| Year |
Citation |
Score |
| 2024 |
Weber JJ, Czisch L, Pereira Sena P, Fath F, Huridou C, Schwarz N, Incebacak Eltemur RD, Würth A, Weishäupl D, Döcker M, Blumenstock G, Martins S, Sequeiros J, Rouleau GA, Jardim LB, ... ... Brice A, et al. The parkin V380L variant is a genetic modifier of Machado-Joseph disease with impact on mitophagy. Acta Neuropathologica. 148: 14. PMID 39088078 DOI: 10.1007/s00401-024-02762-6 |
0.315 |
|
| 2023 |
Tesson C, Bouchetara MS, Ferrien M, Lesage S, Brice A. Identification of a DAGLB Mutation in a Non-Chinese Patient with Parkinson's Disease. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 37431851 DOI: 10.1002/mds.29533 |
0.339 |
|
| 2023 |
Cunha P, Petit E, Coutelier M, Coarelli G, Mariotti C, Faber J, Van Gaalen J, Damasio J, Fleszar Z, Tosi M, Rocca C, De Michele G, Minnerop M, Ewenczyk C, Santorelli FM, ... ... Brice A, et al. Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias. American Journal of Human Genetics. PMID 37301203 DOI: 10.1016/j.ajhg.2023.05.009 |
0.33 |
|
| 2023 |
Khrouf W, Saracino D, Rucheton B, Houot M, Clot F, Rinaldi D, Vitor J, Huynh M, Heng E, Schlemmer D, Pasquier F, Deramecourt V, Auriacombe S, Azuar C, Levy R, ... ... Brice A, ... ... Brice A, ... ... Brice A, et al. Plasma lysosphingolipids in GRN-related diseases: Monitoring lysosomal dysfunction to track disease progression. Neurobiology of Disease. 106108. PMID 37003407 DOI: 10.1016/j.nbd.2023.106108 |
0.315 |
|
| 2022 |
Barbier M, Davoine CS, Petit E, Porché M, Guillot-Noel L, Sayah S, Fauret AL, Neau JP, Guyant-Maréchal L, Deffond D, Tranchant C, Goizet C, Coarelli G, Castrioto A, Klebe S, ... ... Brice A, et al. Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias? Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 36422518 DOI: 10.1016/j.gim.2022.10.009 |
0.306 |
|
| 2022 |
Fevga C, Tesson C, Mascaro AC, Courtin T, van Coller R, Sakka S, Ferraro F, Farhat N, Bardien S, Damak M, Carr J, Ferrien M, Boumeester V, Hundscheid J, Grillenzoni N, ... ... Brice A, et al. PTPA variants and impaired PP2A activity in early-onset parkinsonism with intellectual disability. Brain : a Journal of Neurology. PMID 36073231 DOI: 10.1093/brain/awac326 |
0.325 |
|
| 2021 |
Coutelier M, Jacoupy M, Janer A, Renaud F, Auger N, Saripella GV, Ancien F, Pucci F, Rooman M, Gilis D, Larivière R, Sgarioto N, Valter R, Guillot-Noel L, Le Ber I, ... ... Brice A, et al. NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia. Brain : a Journal of Neurology. PMID 34788392 DOI: 10.1093/brain/awab407 |
0.309 |
|
| 2021 |
Yahia A, Elsayed LEO, Valter R, Hamed AAA, Mohammed IN, Elseed MA, Salih MA, Esteves T, Auger N, Abubaker R, Koko M, Abozar F, Malik H, Adil R, Emad S, ... ... Brice A, et al. Pathogenic Variants in Cause a Novel Psychomotor Developmental Disorder With Spastic Paraplegia. Frontiers in Neurology. 12: 720201. PMID 34489854 DOI: 10.3389/fneur.2021.720201 |
0.328 |
|
| 2021 |
Lai D, Alipanahi B, Fontanillas P, Schwantes-An TH, Aasly J, Alcalay RN, Beecham GW, Berg D, Bressman S, Brice A, Brockman K, Clark L, Cookson M, Das S, Van Deerlin V, et al. Genome-wide association studies of LRRK2 modifiers of Parkinson's disease. Annals of Neurology. PMID 33938021 DOI: 10.1002/ana.26094 |
0.314 |
|
| 2021 |
Lesage S, Mangone G, Tesson C, Bertrand H, Benmahdjoub M, Kesraoui S, Arezki M, Singleton A, Corvol JC, Brice A. Clinical Variability of -Associated Early-Onset Parkinsonism. Frontiers in Neurology. 12: 648457. PMID 33841314 DOI: 10.3389/fneur.2021.648457 |
0.408 |
|
| 2021 |
Méreaux JL, Firanescu C, Coarelli G, Kvarnung M, Rodrigues R, Pegoraro E, Tazir M, Taithe F, Valter R, Huin V, Lidström K, Banneau G, Morais S, Parodi L, Coutelier M, ... ... Brice A, et al. Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations. Neurogenetics. PMID 33486633 DOI: 10.1007/s10048-020-00633-2 |
0.326 |
|
| 2020 |
Elsayed LEO, Mohammed IN, Hamed AAA, Elseed MA, Salih MAM, Yahia A, Abubaker R, Koko M, Abd Allah ASI, Elbashir MI, Ibrahim ME, Brice A, Ahmed AE, Stevanin G. Novel Homozygous Missense Mutation in the Gene in a Large Sudanese Family. Frontiers in Neurology. 11: 569996. PMID 33193012 DOI: 10.3389/fneur.2020.569996 |
0.4 |
|
| 2020 |
Lesage S, Lunati A, Houot M, Romdhan SB, Clot F, Tesson C, Mangone G, Toullec BL, Courtin T, Larcher K, Benmahdjoub M, Arezki M, Bouhouche A, Anheim M, Roze E, ... ... Brice A, et al. Characterization of Recessive Parkinson Disease in a Large Multicenter Study. Annals of Neurology. 88: 843-850. PMID 33045815 DOI: 10.1002/ana.25787 |
0.404 |
|
| 2020 |
Carneiro F, Saracino D, Huin V, Clot F, Delorme C, Méneret A, Thobois S, Cormier F, Corvol JC, Lenglet T, Vidailhet M, Habert MO, Gabelle A, Beaufils É, Mondon K, ... ... Brice A, et al. Isolated parkinsonism is an atypical presentation of GRN and C9orf72 gene mutations. Parkinsonism & Related Disorders. 80: 73-81. PMID 32961397 DOI: 10.1016/j.parkreldis.2020.09.019 |
0.383 |
|
| 2020 |
Lesage S, Houot M, Mangone G, Tesson C, Bertrand H, Forlani S, Anheim M, Brefel-Courbon C, Broussolle E, Thobois S, Damier P, Durif F, Roze E, Tison F, Grabli D, ... ... Brice A, et al. Genetic and Phenotypic Basis of Autosomal Dominant Parkinson's Disease in a Large Multi-Center Cohort. Frontiers in Neurology. 11: 682. PMID 32849182 DOI: 10.3389/Fneur.2020.00682 |
0.489 |
|
| 2020 |
Smaili I, Tesson C, Regragui W, Bertrand H, Rahmani M, Bouslam N, Benomar A, Brice A, Lesage S, Bouhouche A. Gene Panel Sequencing Identifies Novel Pathogenic Mutations in Moroccan Patients with Familial Parkinson Disease. Journal of Molecular Neuroscience : Mn. PMID 32557143 DOI: 10.1007/S12031-020-01635-3 |
0.325 |
|
| 2020 |
Lesage S, Lunati A, Houot M, Romdhan SB, Clot F, Tesson C, Mangone G, Toullec BL, Courtin T, Larcher K, Benmahdjoub M, Arezki M, Bouhouche A, Anheim M, Roze E, ... ... Brice A, et al. Characterization of recessive Parkinson's disease in a large multicenter study. Annals of Neurology. PMID 32472966 DOI: 10.1002/Ana.25787 |
0.499 |
|
| 2020 |
Ihle J, Artaud F, Bekadar S, Mangone G, Sambin S, Mariani LL, Bertrand H, Rascol O, Durif F, Derkinderen P, Scherzer C, Elbaz A, Corvol JC, Corvol JC, ... ... Brice A, ... ... Brice A, et al. Parkinson's disease polygenic risk score is not associated with impulse control disorders: A longitudinal study. Parkinsonism & Related Disorders. 75: 30-33. PMID 32450545 DOI: 10.1016/J.Parkreldis.2020.03.017 |
0.316 |
|
| 2020 |
Sellami L, Rucheton B, Ben Younes I, Camuzat A, Saracino D, Rinaldi D, Epelbaum S, Azuar C, Levy R, Auriacombe S, Hannequin D, Pariente J, Barbier M, Boutoleau-Bretonnière C, Couratier P, ... ... Brice A, et al. Plasma progranulin levels for frontotemporal dementia in clinical practice: a 10-year French experience. Neurobiology of Aging. PMID 32171590 DOI: 10.1016/J.Neurobiolaging.2020.02.014 |
0.408 |
|
| 2019 |
Huin V, Barbier M, Bottani A, Lobrinus JA, Clot F, Lamari F, Chat L, Rucheton B, Fluchère F, Auvin S, Myers P, Gelot A, Camuzat A, Caillaud C, Jornéa L, ... ... Brice A, et al. Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms. Brain : a Journal of Neurology. PMID 31855245 DOI: 10.1093/Brain/Awz377 |
0.394 |
|
| 2019 |
Moore KM, Nicholas J, Grossman M, McMillan CT, Irwin DJ, Massimo L, Van Deerlin VM, Warren JD, Fox NC, Rossor MN, Mead S, Bocchetta M, Boeve BF, Knopman DS, Graff-Radford NR, ... ... Brice A, et al. Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study. The Lancet. Neurology. PMID 31810826 DOI: 10.1016/S1474-4422(19)30394-1 |
0.301 |
|
| 2019 |
Nalls MA, Blauwendraat C, Vallerga CL, Heilbron K, Bandres-Ciga S, Chang D, Tan M, Kia DA, Noyce AJ, Xue A, Bras J, Young E, von Coelln R, Simón-Sánchez J, Schulte C, ... ... Brice A, et al. Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies. The Lancet. Neurology. 18: 1091-1102. PMID 31701892 DOI: 10.1016/S1474-4422(19)30320-5 |
0.333 |
|
| 2019 |
Palencia-Madrid L, Sánchez-Valle R, Fernández de Retana I, Borrego S, Grau-Rivera O, Reñé R, Hernández I, Almenar C, Rossi G, Caroppo P, Redaelli V, Le Ber I, Camuzat A, Brice A, Antonell A, et al. A unique common ancestor introduced P301L mutation in MAPT gene in frontotemporal dementia patients from Barcelona (Baix Llobregat, Spain). Neurobiology of Aging. PMID 31537395 DOI: 10.1016/J.Neurobiolaging.2019.08.015 |
0.471 |
|
| 2019 |
Iwaki H, Blauwendraat C, Leonard HL, Kim JJ, Liu G, Maple-Grødem J, Corvol JC, Pihlstrøm L, van Nimwegen M, Hutten SJ, Nguyen KH, Rick J, Eberly S, Faghri F, Auinger P, ... ... Brice A, et al. Genomewide association study of Parkinson's disease clinical biomarkers in 12 longitudinal patients' cohorts. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 31505070 DOI: 10.1002/Mds.27845 |
0.301 |
|
| 2019 |
Saracino D, Sellami L, Clot F, Camuzat A, Lamari F, Rucheton B, Benyounes I, Roué-Jagot C, Lagarde J, Sarazin M, Jornea L, Forlani S, LeGuern E, Dubois B, Brice A, et al. The missense p.Trp7Arg mutation in GRN gene leads to progranulin haploinsufficiency. Neurobiology of Aging. PMID 31262553 DOI: 10.1016/j.neurobiolaging.2019.06.002 |
0.313 |
|
| 2019 |
Bonello F, Hassoun SM, Mouton-Liger F, Shin YS, Muscat A, Tesson C, Lesage S, Beart PM, Brice A, Krupp J, Corvol JC, Corti O. LRRK2 impairs PINK1/Parkin-dependent mitophagy via its kinase activity: pathologic insights into Parkinson's disease. Human Molecular Genetics. PMID 30629163 DOI: 10.1093/Hmg/Ddz004 |
0.38 |
|
| 2018 |
Book A, Guella I, Candido T, Brice A, Hattori N, Jeon B, Farrer MJ. A Meta-Analysis of α-Synuclein Multiplication in Familial Parkinsonism. Frontiers in Neurology. 9: 1021. PMID 30619023 DOI: 10.3389/fneur.2018.01021 |
0.327 |
|
| 2018 |
Parodi L, Fenu S, Barbier M, Banneau G, Duyckaerts C, Tezenas du Montcel S, Monin ML, Ait Said S, Guegan J, Tallaksen CME, Sablonniere B, Brice A, Stevanin G, Depienne C, Durr A, et al. Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex. Brain : a Journal of Neurology. 141: 3331-3342. PMID 30476002 DOI: 10.1093/Brain/Awy285 |
0.374 |
|
| 2018 |
Cormier-Dequaire F, Bekadar S, Anheim M, Lebbah S, Pelissolo A, Krack P, Lacomblez L, Lhommée E, Castrioto A, Azulay JP, Defebvre L, Kreisler A, Durif F, Marques-Raquel A, Brefel-Courbon C, ... ... Brice A, et al. Suggestive association between OPRM1 and impulse control disorders in Parkinson's disease. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 30444952 DOI: 10.1002/Mds.27519 |
0.341 |
|
| 2018 |
Duchesne A, Vaiman A, Frah M, Floriot S, Legoueix-Rodriguez S, Desmazières A, Fritz S, Beauvallet C, Albaric O, Venot E, Bertaud M, Saintilan R, Guatteo R, Esquerré D, Branchu J, ... ... Brice A, et al. Progressive ataxia of Charolais cattle highlights a role of KIF1C in sustainable myelination. Plos Genetics. 14: e1007550. PMID 30067756 DOI: 10.1371/Journal.Pgen.1007550 |
0.455 |
|
| 2018 |
Blauwendraat C, Reed X, Kia DA, Gan-Or Z, Lesage S, Pihlstrøm L, Guerreiro R, Gibbs JR, Sabir M, Ahmed S, Ding J, Alcalay RN, Hassin-Baer S, Pittman AM, Brooks J, ... ... Brice A, et al. Frequency of Loss of Function Variants in LRRK2 in Parkinson Disease. Jama Neurology. PMID 30039155 DOI: 10.1001/Jamaneurol.2018.1885 |
0.366 |
|
| 2018 |
Saracino D, Clot F, Camuzat A, Anquetil V, Hannequin D, Guyant-Maréchal L, Didic M, Guillot-Noël L, Rinaldi D, Latouche M, Forlani S, Ghassab Y, Coppola C, Di Iorio G, David I, ... ... Brice A, et al. Novel VCP mutations expand the mutational spectrum of frontotemporal dementia. Neurobiology of Aging. PMID 30005904 DOI: 10.1016/j.neurobiolaging.2018.06.037 |
0.382 |
|
| 2018 |
Boutry M, Branchu J, Lustremant C, Pujol C, Pernelle J, Matusiak R, Seyer A, Poirel M, Chu-Van E, Pierga A, Dobrenis K, Puech JP, Caillaud C, Durr A, Brice A, et al. Inhibition of Lysosome Membrane Recycling Causes Accumulation of Gangliosides that Contribute to Neurodegeneration. Cell Reports. 23: 3813-3826. PMID 29949766 DOI: 10.1016/J.Celrep.2018.05.098 |
0.324 |
|
| 2018 |
Corvol JC, Artaud F, Cormier-Dequaire F, Rascol O, Durif F, Derkinderen P, Marques AR, Bourdain F, Brandel JP, Pico F, Lacomblez L, Bonnet C, Brefel-Courbon C, Ory-Magne F, Grabli D, ... ... Brice A, et al. Longitudinal analysis of impulse control disorders in Parkinson disease. Neurology. PMID 29925549 DOI: 10.1212/Wnl.0000000000005816 |
0.313 |
|
| 2018 |
Elsayed LEO, Mohammed IN, Hamed AAA, Elseed MA, Salih MAM, Yahia A, Siddig RA, Amin M, Koko M, Elbashir MI, Ibrahim ME, Brice A, Ahmed AE, Stevanin G. Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family. Bmc Medical Genetics. 19: 72. PMID 29739362 DOI: 10.1186/s12881-018-0592-y |
0.346 |
|
| 2018 |
Mouton-Liger F, Rosazza T, Sepulveda-Diaz J, Ieang A, Hassoun SM, Claire E, Mangone G, Brice A, Michel PP, Corvol JC, Corti O. Parkin deficiency modulates NLRP3 inflammasome activation by attenuating an A20-dependent negative feedback loop. Glia. PMID 29665074 DOI: 10.1002/Glia.23337 |
0.318 |
|
| 2018 |
Bouwkamp CG, Afawi Z, Fattal-Valevski A, Krabbendam IE, Rivetti S, Masalha R, Quadri M, Breedveld GJ, Mandel H, Tailakh MA, Beverloo HB, Stevanin G, Brice A, van IJcken WFJ, Vernooij MW, et al.
homozygous missense mutation associated with complicated hereditary spastic paraplegia. Neurology. Genetics. 4: e223. PMID 29577077 DOI: 10.1212/Nxg.0000000000000223 |
0.349 |
|
| 2018 |
Coutelier M, Hammer MB, Stevanin G, Monin ML, Davoine CS, Mochel F, Labauge P, Ewenczyk C, Ding J, Gibbs JR, Hannequin D, Melki J, Toutain A, Laugel V, Forlani S, ... ... Brice A, et al. Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes. Jama Neurology. PMID 29482223 DOI: 10.1001/Jamaneurol.2017.5121 |
0.618 |
|
| 2018 |
Mendoza-Ferreira N, Coutelier M, Janzen E, Hosseinibarkooie S, Löhr H, Schneider S, Milbradt J, Karakaya M, Riessland M, Pichlo C, Torres-Benito L, Singleton A, Zuchner S, Brice A, Durr A, et al. Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function. Neurology. Genetics. 4: e209. PMID 29379881 DOI: 10.1212/Nxg.0000000000000209 |
0.304 |
|
| 2017 |
Blauwendraat C, Kia DA, Pihlstrøm L, Gan-Or Z, Lesage S, Gibbs JR, Ding J, Alcalay RN, Hassin-Baer S, Pittman AM, Brooks J, Edsall C, Chung SJ, Goldwurm S, Toft M, ... ... Brice A, et al. Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease. Neurobiology of Aging. PMID 29398121 DOI: 10.1016/J.Neurobiolaging.2017.12.012 |
0.312 |
|
| 2017 |
Barbier M, Camuzat A, Houot M, Clot F, Caroppo P, Fournier C, Rinaldi D, Pasquier F, Hannequin D, Pariente J, Larcher K, Brice A, Génin E, et al. Factors influencing the age at onset in familial frontotemporal lobar dementia: Important weight of genetics. Neurology. Genetics. 3: e203. PMID 29264395 DOI: 10.1212/Nxg.0000000000000203 |
0.386 |
|
| 2017 |
Bertrand A, Wen J, Rinaldi D, Houot M, Sayah S, Camuzat A, Fournier C, Fontanella S, Routier A, Couratier P, Pasquier F, Habert MO, Hannequin D, Martinaud O, Caroppo P, ... ... Brice A, et al. Early Cognitive, Structural, and Microstructural Changes in Presymptomatic C9orf72 Carriers Younger Than 40 Years. Jama Neurology. PMID 29197216 DOI: 10.1001/Jamaneurol.2017.4266 |
0.36 |
|
| 2017 |
Bouhouche A, Tesson C, Regragui W, Rahmani M, Drouet V, Tibar H, Souirti Z, Ben El Haj R, Bouslam N, Yahyaoui M, Brice A, Benomar A, Lesage S. Mutation Analysis of Consanguineous Moroccan Patients with Parkinson's Disease Combining Microarray and Gene Panel. Frontiers in Neurology. 8: 567. PMID 29163333 DOI: 10.3389/Fneur.2017.00567 |
0.369 |
|
| 2017 |
Méneret A, Franz EA, Trouillard O, Oliver TC, Zagar Y, Robertson SP, Welniarz Q, Gardner RJM, Gallea C, Srour M, Depienne C, Jasoni CL, Dubacq C, Riant F, Lamy JC, ... ... Brice A, et al. Mutations in the netrin-1 gene cause congenital mirror movements. The Journal of Clinical Investigation. PMID 28945198 DOI: 10.1172/Jci95442 |
0.322 |
|
| 2017 |
Morais S, Raymond L, Mairey M, Coutinho P, Brandão E, Ribeiro P, Loureiro JL, Sequeiros J, Brice A, Alonso I, Stevanin G. Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias. European Journal of Human Genetics : Ejhg. PMID 28832565 DOI: 10.1038/Ejhg.2017.124 |
0.451 |
|
| 2017 |
Lee AJ, Wang Y, Alcalay RN, Mejia-Santana H, Saunders-Pullman R, Bressman S, Corvol JC, Brice A, Lesage S, Mangone G, Tolosa E, Pont-Sunyer C, Vilas D, Schüle B, Kausar F, et al. Penetrance estimate of LRRK2 p.G2019S mutation in individuals of non-Ashkenazi Jewish ancestry. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 28639421 DOI: 10.1002/Mds.27059 |
0.313 |
|
| 2017 |
Liu G, Locascio JJ, Corvol JC, Boot B, Liao Z, Page K, Franco D, Burke K, Jansen IE, Trisini-Lipsanopoulos A, Winder-Rhodes S, Tanner CM, Lang AE, Eberly S, Elbaz A, ... Brice A, et al. Prediction of cognition in Parkinson's disease with a clinical-genetic score: a longitudinal analysis of nine cohorts. The Lancet. Neurology. PMID 28629879 DOI: 10.1016/S1474-4422(17)30122-9 |
0.329 |
|
| 2017 |
Hammer MB, Ding J, Mochel F, Eleuch-Fayache G, Charles P, Coutelier M, Gibbs JR, Arepalli SK, Chong SB, Hernandez DG, Majounie E, Clipman S, Bouhlal Y, Nehdi H, Brice A, et al. SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families. Neuro-Degenerative Diseases. 17: 208-212. PMID 28558379 DOI: 10.1159/000464445 |
0.42 |
|
| 2017 |
Coutelier M, Coarelli G, Monin ML, Konop J, Davoine CS, Tesson C, Valter R, Anheim M, Behin A, Castelnovo G, Charles P, David A, Ewenczyk C, Fradin M, Goizet C, ... ... Brice A, et al. A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies. Brain : a Journal of Neurology. PMID 28444220 DOI: 10.1093/Brain/Awx081 |
0.463 |
|
| 2017 |
Marsh AP, Heron D, Edwards TJ, Quartier A, Galea C, Nava C, Rastetter A, Moutard ML, Anderson V, Bitoun P, Bunt J, Faudet A, Garel C, Gillies G, Gobius I, ... ... Brice A, et al. Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance. Nature Genetics. PMID 28250454 DOI: 10.1038/Ng.3794 |
0.43 |
|
| 2017 |
Branchu J, Boutry M, Sourd L, Depp M, Leone C, Corriger A, Vallucci M, Esteves T, Matusiak R, Dumont M, Muriel MP, Santorelli FM, Brice A, El Hachimi KH, Stevanin G, et al. Loss of spatacsin function alters lysosomal lipid clearance leading to upper and lower motor neuron degeneration. Neurobiology of Disease. PMID 28237315 DOI: 10.1016/J.Nbd.2017.02.007 |
0.306 |
|
| 2017 |
Coarelli G, Diallo A, Thion MS, Rinaldi D, Calvas F, Boukbiza OL, Tataru A, Charles P, Tranchant C, Marelli C, Ewenczyk C, Tchikviladzé M, Monin ML, Carlander B, Anheim M, ... Brice A, et al. Low cancer prevalence in polyglutamine expansion diseases. Neurology. PMID 28202696 DOI: 10.1212/Wnl.0000000000003725 |
0.32 |
|
| 2017 |
Bertrand A, Wen J, Rinaldi D, Camuzat A, Fontanella S, Routier A, Couratier P, Pasquier F, Martinaud O, Durrleman S, Brice A, Colliot O, Ber IL. Accelerated Subcortical Atrophy During Aging In Presymptomatic Carriers Of C9Orf72 Mutation Alzheimers & Dementia. 13. DOI: 10.1016/J.Jalz.2017.06.1580 |
0.382 |
|
| 2016 |
Lubbe SJ, Escott-Price V, Gibbs JR, Nalls MA, Bras J, Price TR, Nicolas A, Jansen IE, Mok KY, Pittman AM, Tomkins JE, Lewis PA, Noyce AJ, Lesage S, Sharma M, ... ... Brice A, et al. Additional Rare Variant Analysis in Parkinson's Disease Cases with and Without Known Pathogenic Mutations: Evidence for Oligogenic Inheritance. Human Molecular Genetics. PMID 27798102 DOI: 10.1093/Hmg/Ddw348 |
0.321 |
|
| 2016 |
Liu G, Boot B, Locascio JJ, Jansen IE, Winder-Rhodes S, Eberly S, Elbaz A, Brice A, Ravina B, van Hilten JJ, Cormier-Dequaire F, Corvol JC, Barker RA, Heutink P, Marinus J, et al. Neuropathic Gaucher's mutations accelerate cognitive decline in Parkinson's. Annals of Neurology. PMID 27717005 DOI: 10.1002/ana.24781 |
0.318 |
|
| 2016 |
de Diego-Balaguer R, Schramm C, Rebeix I, Dupoux E, Durr A, Brice A, Charles P, Cleret de Langavant L, Youssov K, Verny C, Damotte V, Azulay JP, Goizet C, Simonin C, Tranchant C, et al. COMT Val158Met Polymorphism Modulates Huntington's Disease Progression. Plos One. 11: e0161106. PMID 27657697 DOI: 10.1371/Journal.Pone.0161106 |
0.346 |
|
| 2016 |
Elsayed LE, Mohammed IN, Hamed AA, Elseed MA, Johnson A, Mairey M, Mohamed HE, Idris MN, Salih MA, El-Sadig SM, Koko ME, Mohamed AY, Raymond L, Coutelier M, Darios F, ... ... Brice A, et al. Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan. European Journal of Human Genetics : Ejhg. PMID 27601211 DOI: 10.1038/Ejhg.2016.108 |
0.315 |
|
| 2016 |
van Rheenen W, Shatunov A, Dekker AM, McLaughlin RL, Diekstra FP, Pulit SL, van der Spek RA, Võsa U, de Jong S, Robinson MR, Yang J, Fogh I, van Doormaal PT, Tazelaar GH, Koppers M, ... ... Brice A, et al. Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis. Nature Genetics. 48: 1043-8. PMID 27455348 DOI: 10.1038/Ng.3622 |
0.311 |
|
| 2016 |
Papegaey A, Eddarkaoui S, Deramecourt V, Fernandez-Gomez FJ, Pantano P, Obriot H, Machala C, Anquetil V, Camuzat A, Brice A, Maurage CA, Le Ber I, Duyckaerts C, Buée L, Sergeant N, et al. Reduced Tau protein expression is associated with frontotemporal degeneration with progranulin mutation. Acta Neuropathologica Communications. 4: 74. PMID 27435172 DOI: 10.1186/S40478-016-0345-0 |
0.368 |
|
| 2016 |
Mariani LL, Tesson C, Charles P, Cazeneuve C, Hahn V, Youssov K, Freeman L, Grabli D, Roze E, Noël S, Peuvion JN, Bachoud-Levi AC, Brice A, Stevanin G, Durr A. Expanding the Spectrum of Genes Involved in Huntington Disease Using a Combined Clinical and Genetic Approach. Jama Neurology. PMID 27400454 DOI: 10.1001/Jamaneurol.2016.2215 |
0.412 |
|
| 2016 |
Caroppo P, Camuzat A, Guillot-Noel L, Thomas-Antérion C, Couratier P, Wong TH, Teichmann M, Golfier V, Auriacombe S, Belliard S, Laurent B, Lattante S, Millecamps S, Clot F, Dubois B, ... ... Brice A, et al. Defining the spectrum of frontotemporal dementias associated with TARDBP mutations. Neurology. Genetics. 2: e80. PMID 27280171 DOI: 10.1212/Nxg.0000000000000080 |
0.425 |
|
| 2016 |
Gautier CA, Erpapazoglou Z, Mouton-Liger F, Muriel MP, Cormier F, Bigou S, Duffaure S, Girard M, Foret B, Iannielli A, Broccoli V, Dalle C, Bohl D, Michel PP, Corvol JC, ... Brice A, et al. The endoplasmic reticulum-mitochondria interface is perturbed in PARK2 knockout mice and patients with PARK2 mutations. Human Molecular Genetics. PMID 27206984 DOI: 10.1093/Hmg/Ddw148 |
0.37 |
|
| 2016 |
Ameur F, Colliot O, Caroppo P, Ströer S, Dormont D, Brice A, Azuar C, Dubois B, Le Ber I, Bertrand A. White matter lesions in FTLD: distinct phenotypes characterize GRN and C9ORF72 mutations. Neurology. Genetics. 2: e47. PMID 27066584 DOI: 10.1212/Nxg.0000000000000047 |
0.41 |
|
| 2016 |
Denora PS, Smets K, Zolfanelli F, Ceuterick-de Groote C, Casali C, Deconinck T, Sieben A, Gonzales M, Zuchner S, Darios F, Peeters D, Brice A, Malandrini A, De Jonghe P, Santorelli FM, et al. Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions. Brain : a Journal of Neurology. PMID 27016404 DOI: 10.1093/Brain/Aww061 |
0.424 |
|
| 2016 |
Degos B, Toussaint A, Lesage S, Brice A, Vidailhet M, Beldjord C, Catala M. PINK1 and FLNA mutations association: A role for atypical parkinsonism? Parkinsonism & Related Disorders. PMID 26969111 DOI: 10.1016/J.Parkreldis.2016.02.023 |
0.311 |
|
| 2016 |
Lesage S, Drouet V, Majounie E, Deramecourt V, Jacoupy M, Nicolas A, Cormier-Dequaire F, Hassoun SM, Pujol C, Ciura S, Erpapazoglou Z, Usenko T, Maurage CA, Sahbatou M, Liebau S, ... ... Brice A, et al. Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy. American Journal of Human Genetics. 98: 500-13. PMID 26942284 DOI: 10.1016/J.Ajhg.2016.01.014 |
0.426 |
|
| 2016 |
Elsayed LE, Drouet V, Usenko T, Mohammed IN, Hamed AA, Elseed MA, Salih MA, Koko ME, Mohamed AY, Siddig RA, Elbashir MI, Ibrahim ME, Durr A, Stevanin G, Lesage S, ... ... Brice A, et al. A Novel Nonsense Mutation in DNAJC6 Expands the Phenotype of Autosomal-Recessive Juvenile-Onset Parkinson's Disease. Annals of Neurology. 79: 335-7. PMID 26703368 DOI: 10.1002/Ana.24591 |
0.37 |
|
| 2016 |
Hu HH, Kannengiesser C, Lesage S, André J, Mourah S, Michel L, Descamps V, Basset-Seguin N, Bagot M, Bensussan A, Lebbé C, Deschamps L, Saiag P, Leccia MT, Bressac-de-Paillerets B, ... ... Brice A, et al. PARKIN Inactivation Links Parkinson's Disease to Melanoma. Journal of the National Cancer Institute. 108. PMID 26683220 DOI: 10.1093/Jnci/Djv340 |
0.411 |
|
| 2015 |
Caroppo P, Camuzat A, De Septenville A, Couratier P, Lacomblez L, Auriacombe S, Flabeau O, Jornéa L, Blanc F, Sellal F, Cretin B, Meininger V, Fleury MC, Couarch P, Dubois B, ... Brice A, et al. Semantic and nonfluent aphasic variants, secondarily associated with amyotrophic lateral sclerosis, are predominant frontotemporal lobar degeneration phenotypes in TBK1 carriers. Alzheimer's & Dementia (Amsterdam, Netherlands). 1: 481-6. PMID 27239526 DOI: 10.1016/J.Dadm.2015.10.002 |
0.416 |
|
| 2015 |
Lesage S, Bras J, Cormier-Dequaire F, Condroyer C, Nicolas A, Darwent L, Guerreiro R, Majounie E, Federoff M, Heutink P, Wood NW, Gasser T, Hardy J, Tison F, Singleton A, ... Brice A, et al. Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease. Neurology. Genetics. 1: e9. PMID 27066548 DOI: 10.1212/Nxg.0000000000000009 |
0.467 |
|
| 2015 |
Jahic A, Khundadze M, Jaenisch N, Schüle R, Klimpe S, Klebe S, Frahm C, Kassubek J, Stevanin G, Schöls L, Brice A, Hübner CA, Beetz C. The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8. Orphanet Journal of Rare Diseases. 10: 147. PMID 26572744 DOI: 10.1186/s13023-015-0359-x |
0.332 |
|
| 2015 |
Ehrminger M, Leu-Semenescu S, Cormier F, Corvol JC, Vidailhet M, Debellemaniere E, Brice A, Arnulf I. Sleep aspects on video-polysomnography in LRRK2 mutation carriers. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 26468079 DOI: 10.1002/Mds.26412 |
0.35 |
|
| 2015 |
Caroppo P, Habert MO, Durrleman S, Funkiewiez A, Perlbarg V, Hahn V, Bertin H, Gaubert M, Routier A, Hannequin D, Deramecourt V, Pasquier F, Rivaud-Pechoux S, Vercelletto M, Edouart G, ... ... Brice A, et al. Lateral Temporal Lobe: An Early Imaging Marker of the Presymptomatic GRN Disease? Journal of Alzheimer's Disease : Jad. 47: 751-759. PMID 26401709 DOI: 10.3233/Jad-150270 |
0.306 |
|
| 2015 |
Nava C, Rupp J, Boissel JP, Mignot C, Rastetter A, Amiet C, Jacquette A, Dupuits C, Bouteiller D, Keren B, Ruberg M, Faudet A, Doummar D, Philippe A, Périsse D, ... ... Brice A, et al. Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders. Amino Acids. PMID 26215737 DOI: 10.1007/S00726-015-2057-3 |
0.339 |
|
| 2015 |
Coutelier M, Goizet C, Durr A, Habarou F, Morais S, Dionne-Laporte A, Tao F, Konop J, Stoll M, Charles P, Jacoupy M, Matusiak R, Alonso I, Tallaksen C, Mairey M, ... ... Brice A, et al. Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. Brain : a Journal of Neurology. PMID 26026163 DOI: 10.1093/Brain/Awv143 |
0.48 |
|
| 2015 |
Lohmann E, Coquel AS, Honoré A, Gurvit H, Hanagasi H, Emre M, Leutenegger AL, Drouet V, Sahbatou M, Guven G, Erginel-Unaltuna N, Deleuze JF, Lesage S, Brice A. A new F-box protein 7 gene mutation causing typical Parkinson's disease. Movement Disorders : Official Journal of the Movement Disorder Society. 30: 1130-3. PMID 26010069 DOI: 10.1002/Mds.26266 |
0.363 |
|
| 2015 |
Duarri A, Nibbeling E, Fokkens MR, Meijer M, Boddeke E, Lagrange E, Stevanin G, Brice A, Durr A, Verbeek DS. Erratum to: The L450F [Corrected] mutation in KCND3 brings spinocerebellar ataxia and Brugada syndrome closer together. Neurogenetics. 16: 243. PMID 25863969 DOI: 10.1007/S10048-015-0447-Z |
0.385 |
|
| 2015 |
Coutelier M, Stevanin G, Brice A. Genetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing. Journal of Neurology. 262: 2382-95. PMID 25862482 DOI: 10.1007/S00415-015-7725-4 |
0.434 |
|
| 2015 |
Coutelier M, Burglen L, Mundwiller E, Abada-Bendib M, Rodriguez D, Chantot-Bastaraud S, Rougeot C, Cournelle MA, Milh M, Toutain A, Bacq D, Meyer V, Afenjar A, Deleuze JF, Brice A, et al. GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia. Neurology. 84: 1751-9. PMID 25841024 DOI: 10.1212/Wnl.0000000000001524 |
0.46 |
|
| 2015 |
Jobling RK, Assoum M, Gakh O, Blaser S, Raiman JA, Mignot C, Roze E, Dürr A, Brice A, Lévy N, Prasad C, Paton T, Paterson AD, Roslin NM, Marshall CR, et al. PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia. Brain : a Journal of Neurology. 138: 1505-17. PMID 25808372 DOI: 10.1093/Brain/Awv057 |
0.436 |
|
| 2015 |
Rinaldi C, Schmidt T, Situ AJ, Johnson JO, Lee PR, Chen KL, Bott LC, Fadó R, Harmison GH, Parodi S, Grunseich C, Renvoisé B, Biesecker LG, De Michele G, Santorelli FM, ... ... Brice A, et al. Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia. Jama Neurology. 72: 561-70. PMID 25751282 DOI: 10.1001/Jamaneurol.2014.4769 |
0.349 |
|
| 2015 |
Lossos A, Stümpfig C, Stevanin G, Gaussen M, Zimmerman BE, Mundwiller E, Asulin M, Chamma L, Sheffer R, Misk A, Dotan S, Gomori JM, Ponger P, Brice A, Lerer I, et al. Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia. Neurology. 84: 659-67. PMID 25609768 DOI: 10.1212/Wnl.0000000000001270 |
0.422 |
|
| 2015 |
Caroppo P, Belin C, Grabli D, Maillet D, De Septenville A, Migliaccio R, Clot F, Lamari F, Camuzat A, Brice A, Dubois B, Le Ber I. Posterior cortical atrophy as an extreme phenotype of GRN mutations. Jama Neurology. 72: 224-8. PMID 25546130 DOI: 10.1001/Jamaneurol.2014.3308 |
0.454 |
|
| 2015 |
Kalia LV, Lang AE, Hazrati LN, Fujioka S, Wszolek ZK, Dickson DW, Ross OA, Van Deerlin VM, Trojanowski JQ, Hurtig HI, Alcalay RN, Marder KS, Clark LN, Gaig C, Tolosa E, ... ... Brice A, et al. Clinical correlations with Lewy body pathology in LRRK2-related Parkinson disease. Jama Neurology. 72: 100-5. PMID 25401511 DOI: 10.1001/Jamaneurol.2014.2704 |
0.391 |
|
| 2015 |
Tchikviladzé M, Gilleron M, Maisonobe T, Galanaud D, Laforêt P, Durr A, Eymard B, Mochel F, Ogier H, Béhin A, Stojkovic T, Degos B, Gourfinkel-An I, Sedel F, Anheim M, ... ... Brice A, et al. A diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificity. Journal of Neurology, Neurosurgery, and Psychiatry. 86: 646-54. PMID 25118206 DOI: 10.1136/Jnnp-2013-306799 |
0.398 |
|
| 2015 |
Boutoleau-Bretonnière C, Camuzat A, Le Ber I, Bouya-Ahmed K, Guerreiro R, Deruet AL, Evrard C, Bras J, Lamy E, Auffray-Calvier E, Pallardy A, Hardy J, Brice A, Derkinderen P, Vercelletto M. A phenotype of atypical apraxia of speech in a family carrying SQSTM1 mutation. Journal of Alzheimer's Disease : Jad. 43: 625-30. PMID 25114083 DOI: 10.3233/Jad-141512 |
0.472 |
|
| 2015 |
Ehrminger M, Leu S, Cormier F, Corvol J, Brice A, Arnulf I. Le trouble comportemental en sommeil paradoxal est-il un marqueur pré-symptomatique chez les sujets mutés LRRK2 (syndrome parkinsonien juvénile) ? Neurophysiologie Clinique-Clinical Neurophysiology. 12: 52. DOI: 10.1016/J.Msom.2015.01.090 |
0.302 |
|
| 2014 |
Monin ML, Mignot C, De Lonlay P, Héron B, Masurel A, Mathieu-Dramard M, Lenaerts C, Thauvin C, Gérard M, Roze E, Jacquette A, Charles P, de Baracé C, Drouin-Garraud V, Khau Van Kien P, ... ... Brice A, et al. 29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype. Orphanet Journal of Rare Diseases. 9: 207. PMID 25497157 DOI: 10.1186/S13023-014-0207-4 |
0.361 |
|
| 2014 |
Obayashi M, Stevanin G, Synofzik M, Monin ML, Duyckaerts C, Sato N, Streichenberger N, Vighetto A, Desestret V, Tesson C, Wichmann HE, Illig T, Huttenlocher J, Kita Y, Izumi Y, ... ... Brice A, et al. Spinocerebellar ataxia type 36 exists in diverse populations and can be caused by a short hexanucleotide GGCCTG repeat expansion. Journal of Neurology, Neurosurgery, and Psychiatry. PMID 25476002 DOI: 10.1136/Jnnp-2014-309153 |
0.381 |
|
| 2014 |
Bannwarth S, Ait-El-Mkadem S, Chaussenot A, Genin EC, Lacas-Gervais S, Fragaki K, Berg-Alonso L, Kageyama Y, Serre V, Moore D, Verschueren A, Rouzier C, Le Ber I, Augé G, Cochaud C, ... ... Brice A, et al. Reply: Are CHCHD10 mutations indeed associated with familial amyotrophic lateral sclerosis? Brain : a Journal of Neurology. 137: e314. PMID 25348633 DOI: 10.1093/Brain/Awu300 |
0.301 |
|
| 2014 |
Caroppo P, Le Ber I, Camuzat A, Clot F, Naccache L, Lamari F, De Septenville A, Bertrand A, Belliard S, Hannequin D, Colliot O, Brice A. Extensive white matter involvement in patients with frontotemporal lobar degeneration: think progranulin. Jama Neurology. 71: 1562-6. PMID 25317628 DOI: 10.1001/Jamaneurol.2014.1316 |
0.418 |
|
| 2014 |
Tan JY, Vance KW, Varela MA, Sirey T, Watson LM, Curtis HJ, Marinello M, Alves S, Steinkraus BR, Cooper S, Nesterova T, Brockdorff N, Fulga TA, Brice A, Sittler A, et al. Cross-talking noncoding RNAs contribute to cell-specific neurodegeneration in SCA7. Nature Structural & Molecular Biology. 21: 955-61. PMID 25306109 DOI: 10.1038/Nsmb.2902 |
0.365 |
|
| 2014 |
Bannwarth S, Ait-El-Mkadem S, Chaussenot A, Genin EC, Lacas-Gervais S, Fragaki K, Berg-Alonso L, Kageyama Y, Serre V, Moore D, Verschueren A, Rouzier C, Le Ber I, Augé G, Cochaud C, ... ... Brice A, et al. Reply: Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis. Brain : a Journal of Neurology. 137: e312. PMID 25261971 DOI: 10.1093/Brain/Awu267 |
0.331 |
|
| 2014 |
Leblond CS, Nava C, Polge A, Gauthier J, Huguet G, Lumbroso S, Giuliano F, Stordeur C, Depienne C, Mouzat K, Pinto D, Howe J, Lemière N, Durand CM, Guibert J, ... ... Brice A, et al. Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments. Plos Genetics. 10: e1004580. PMID 25188300 DOI: 10.1371/Journal.Pgen.1004580 |
0.343 |
|
| 2014 |
Millecamps S, De Septenville A, Teyssou E, Daniau M, Camuzat A, Albert M, LeGuern E, Galimberti D, Brice A, Marie Y, Le Ber I. Genetic analysis of matrin 3 gene in French amyotrophic lateral sclerosis patients and frontotemporal lobar degeneration with amyotrophic lateral sclerosis patients. Neurobiology of Aging. 35: 2882.e13-5. PMID 25158920 DOI: 10.1016/j.neurobiolaging.2014.07.016 |
0.318 |
|
| 2014 |
Chaussenot A, Le Ber I, Ait-El-Mkadem S, Camuzat A, de Septenville A, Bannwarth S, Genin EC, Serre V, Augé G, Brice A, Pouget J, Paquis-Flucklinger V. Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients. Neurobiology of Aging. 35: 2884.e1-4. PMID 25155093 DOI: 10.1016/j.neurobiolaging.2014.07.022 |
0.341 |
|
| 2014 |
Bannwarth S, Ait-El-Mkadem S, Chaussenot A, Genin EC, Lacas-Gervais S, Fragaki K, Berg-Alonso L, Kageyama Y, Serre V, Moore D, Verschueren A, Rouzier C, Le Ber I, Augé G, Cochaud C, ... ... Brice A, et al. Reply: Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease. Brain : a Journal of Neurology. 137: e310. PMID 25113788 DOI: 10.1093/Brain/Awu228 |
0.3 |
|
| 2014 |
Lattante S, Millecamps S, Stevanin G, Rivaud-Péchoux S, Moigneu C, Camuzat A, Da Barroca S, Mundwiller E, Couarch P, Salachas F, Hannequin D, Meininger V, Pasquier F, Seilhean D, Couratier P, ... ... Brice A, et al. Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders. Neurology. 83: 990-5. PMID 25098532 DOI: 10.1212/Wnl.0000000000000778 |
0.359 |
|
| 2014 |
Lattante S, Le Ber I, Galimberti D, Serpente M, Rivaud-Péchoux S, Camuzat A, Clot F, Fenoglio C, Scarpini E, Brice A, Kabashi E. Defining the association of TMEM106B variants among frontotemporal lobar degeneration patients with GRN mutations and C9orf72 repeat expansions. Neurobiology of Aging. 35: 2658.e1-5. PMID 25085782 DOI: 10.1016/j.neurobiolaging.2014.06.023 |
0.364 |
|
| 2014 |
Di Gregorio E, Borroni B, Giorgio E, Lacerenza D, Ferrero M, Lo Buono N, Ragusa N, Mancini C, Gaussen M, Calcia A, Mitro N, Hoxha E, Mura I, Coviello DA, Moon YA, ... ... Brice A, et al. ELOVL5 mutations cause spinocerebellar ataxia 38. American Journal of Human Genetics. 95: 209-17. PMID 25065913 DOI: 10.1016/J.Ajhg.2014.07.001 |
0.452 |
|
| 2014 |
Mencacci NE, Isaias IU, Reich MM, Ganos C, Plagnol V, Polke JM, Bras J, Hersheson J, Stamelou M, Pittman AM, Noyce AJ, Mok KY, Opladen T, Kunstmann E, Hodecker S, ... ... Brice A, et al. Parkinson's disease in GTP cyclohydrolase 1 mutation carriers. Brain : a Journal of Neurology. 137: 2480-92. PMID 24993959 DOI: 10.1093/Brain/Awu179 |
0.302 |
|
| 2014 |
Bombelli F, Stojkovic T, Dubourg O, Echaniz-Laguna A, Tardieu S, Larcher K, Amati-Bonneau P, Latour P, Vignal O, Cazeneuve C, Brice A, Leguern E. Charcot-marie-tooth disease type 2A: From typical to rare phenotypic and genotypic features Jama Neurology. 71: 1036-1042. PMID 24957169 DOI: 10.1001/Jamaneurol.2014.629 |
0.328 |
|
| 2014 |
Le Ber I, De Septenville A, Guerreiro R, Bras J, Camuzat A, Caroppo P, Lattante S, Couarch P, Kabashi E, Bouya-Ahmed K, Dubois B, Brice A. Homozygous TREM2 mutation in a family with atypical frontotemporal dementia Neurobiology of Aging. 35: 2419e23-2419e25. PMID 24910390 DOI: 10.1016/J.Neurobiolaging.2014.04.010 |
0.449 |
|
| 2014 |
Alves S, Cormier-Dequaire F, Marinello M, Marais T, Muriel M, Beaumatin F, Charbonnier-Beaupel F, Tahiri K, Seilhean D, Hachimi KE, Ruberg M, Stevanin G, Barkats M, Dunnen Wd, Priault M, ... Brice A, et al. The autophagy/lysosome pathway is impaired in SCA7 patients and SCA7 knock-in mice Acta Neuropathologica. 128: 705-722. PMID 24859968 DOI: 10.1007/S00401-014-1289-8 |
0.352 |
|
| 2014 |
Méneret A, Depienne C, Riant F, Trouillard O, Bouteiller D, Cincotta M, Bitoun P, Wickert J, Lagroua I, Westenberger A, Borgheresi A, Doummar D, Romano M, Rossi S, Defebvre L, ... ... Brice A, et al. Congenital mirror movements: mutational analysis of RAD51 and DCC in 26 cases. Neurology. 82: 1999-2002. PMID 24808016 DOI: 10.1212/Wnl.0000000000000477 |
0.349 |
|
| 2014 |
Huguet G, Nava C, Lemière N, Patin E, Laval G, Ey E, Brice A, Leboyer M, Szepetowski P, Gillberg C, Depienne C, Delorme R, Bourgeron T. Heterogeneous pattern of selective pressure for PRRT2 in human populations, but no association with autism spectrum disorders. Plos One. 9: e88600. PMID 24594579 DOI: 10.1371/Journal.Pone.0088600 |
0.303 |
|
| 2014 |
Novarino G, Fenstermaker AG, Zaki MS, Hofree M, Silhavy JL, Heiberg AD, Abdellateef M, Rosti B, Scott E, Mansour L, Masri A, Kayserili H, Al-Aama JY, Abdel-Salam GM, Karminejad A, ... ... Brice A, et al. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science (New York, N.Y.). 343: 506-11. PMID 24482476 DOI: 10.1126/Science.1247363 |
0.429 |
|
| 2014 |
Clot F, Rovelet-Lecrux A, Lamari F, Noël S, Keren B, Camuzat A, Michon A, Jornea L, Laudier B, de Septenville A, Caroppo P, Campion D, Cazeneuve C, Brice A, LeGuern E, et al. Partial deletions of the GRN gene are a cause of frontotemporal lobar degeneration. Neurogenetics. 15: 95-100. PMID 24469240 DOI: 10.1007/S10048-014-0389-X |
0.468 |
|
| 2014 |
Esteves T, Durr A, Mundwiller E, Loureiro JL, Boutry M, Gonzalez MA, Gauthier J, El-Hachimi KH, Depienne C, Muriel MP, Acosta Lebrigio RF, Gaussen M, Noreau A, Speziani F, Dionne-Laporte A, ... ... Brice A, et al. Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia. American Journal of Human Genetics. 94: 268-77. PMID 24388663 DOI: 10.1016/J.Ajhg.2013.12.005 |
0.345 |
|
| 2014 |
Caroppo P, Le Ber I, Clot F, Rivaud-Péchoux S, Camuzat A, De Septenville A, Boutoleau-Bretonnière C, Mourlon V, Sauvée M, Lebouvier T, Bonnet AM, Levy R, Vercelletto M, Brice A. DCTN1 mutation analysis in families with progressive supranuclear palsy-like phenotypes. Jama Neurology. 71: 208-15. PMID 24343258 DOI: 10.1001/Jamaneurol.2013.5100 |
0.445 |
|
| 2014 |
Dor T, Cinnamon Y, Raymond L, Shaag A, Bouslam N, Bouhouche A, Gaussen M, Meyer V, Durr A, Brice A, Benomar A, Stevanin G, Schuelke M, Edvardson S. KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction. Journal of Medical Genetics. 51: 137-42. PMID 24319291 DOI: 10.1136/Jmedgenet-2013-102012 |
0.498 |
|
| 2014 |
Matilla-Dueñas A, Ashizawa T, Brice A, Magri S, McFarland KN, Pandolfo M, Pulst SM, Riess O, Rubinsztein DC, Schmidt J, Schmidt T, Scoles DR, Stevanin G, Taroni F, Underwood BR, et al. Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias. Cerebellum (London, England). 13: 269-302. PMID 24307138 DOI: 10.1007/S12311-013-0539-Y |
0.33 |
|
| 2014 |
Gautier CA, Corti O, Brice A. Mitochondrial dysfunctions in Parkinson's disease. Revue Neurologique. 170: 339-43. PMID 24119854 DOI: 10.1016/J.Neurol.2013.06.003 |
0.388 |
|
| 2014 |
Le Ber I, Van Bortel I, Nicolas G, Bouya-Ahmed K, Camuzat A, Wallon D, De Septenville A, Latouche M, Lattante S, Kabashi E, Jornea L, Hannequin D, Brice A, Auriacombe S, Blanc F, et al. HnRNPA2B1 and hnRNPA1 mutations are rare in patients with "multisystem proteinopathy" and frontotemporal lobar degeneration phenotypes Neurobiology of Aging. 35: 934.e5-934.e6. PMID 24119545 DOI: 10.1016/J.Neurobiolaging.2013.09.016 |
0.496 |
|
| 2014 |
Nava C, Keren B, Mignot C, Rastetter A, Chantot-Bastaraud S, Faudet A, Fonteneau E, Amiet C, Laurent C, Jacquette A, Whalen S, Afenjar A, Périsse D, Doummar D, Dorison N, ... ... Brice A, et al. Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders. European Journal of Human Genetics : Ejhg. 22: 71-8. PMID 23632794 DOI: 10.1038/Ejhg.2013.88 |
0.366 |
|
| 2014 |
Holmans P, Moskvina V, Jones L, Sharma M, Vedernikov A, Buchel F, Saad M, Bras JM, Bettella F, Nicolaou N, Simón-Sánchez J, Mittag F, Gibbs JR, Schulte C, Durr A, ... ... Brice A, et al. A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease [Human Molecular Genetics 22, 5, 2013, 1039-1049] doi:10.1093/hmg/dds492 Human Molecular Genetics. 23: 562. DOI: 10.1093/Hmg/Ddt554 |
0.337 |
|
| 2013 |
Fournier M, Roux A, Garrigue J, Muriel MP, Blanche P, Lashuel HA, Anderson JP, Barbour R, Huang J, du Montcel ST, Brice A, Corti O. Parkin depletion delays motor decline dose-dependently without overtly affecting neuropathology in α-synuclein transgenic mice. Bmc Neuroscience. 14: 135. PMID 24192137 DOI: 10.1186/1471-2202-14-135 |
0.417 |
|
| 2013 |
Mignot C, Apartis E, Durr A, Marques Lourenço C, Charles P, Devos D, Moreau C, de Lonlay P, Drouot N, Burglen L, Kempf N, Nourisson E, Chantot-Bastaraud S, Lebre AS, Rio M, ... ... Brice A, et al. Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression. Orphanet Journal of Rare Diseases. 8: 173. PMID 24164873 DOI: 10.1186/1750-1172-8-173 |
0.443 |
|
| 2013 |
Le Ber I, Camuzat A, Guerreiro R, Bouya-Ahmed K, Bras J, Nicolas G, Gabelle A, Didic M, De Septenville A, Millecamps S, Lenglet T, Latouche M, Kabashi E, Campion D, Hannequin D, ... ... Brice A, et al. SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis. Jama Neurology. 70: 1403-10. PMID 24042580 DOI: 10.1001/Jamaneurol.2013.3849 |
0.461 |
|
| 2013 |
Trabzuni D, Ryten M, Emmett W, Ramasamy A, Lackner KJ, Zeller T, Walker R, Smith C, Lewis PA, Mamais A, de Silva R, Vandrovcova J, Hernandez D, Nalls MA, ... ... Brice A, et al. Fine-mapping, gene expression and splicing analysis of the disease associated LRRK2 locus. Plos One. 8: e70724. PMID 23967090 DOI: 10.1371/Journal.Pone.0070724 |
0.354 |
|
| 2013 |
Duarri A, Nibbeling E, Fokkens MR, Meijer M, Boddeke E, Lagrange E, Stevanin G, Brice A, Durr A, Verbeek DS. The L450F [Corrected] mutation in KCND3 brings spinocerebellar ataxia and Brugada syndrome closer together. Neurogenetics. 14: 257-8. PMID 23963749 DOI: 10.1007/S10048-013-0370-0 |
0.45 |
|
| 2013 |
Noreau A, Bourassa CV, Szuto A, Levert A, Dobrzeniecka S, Gauthier J, Forlani S, Durr A, Anheim M, Stevanin G, Brice A, Bouchard JP, Dion PA, Dupré N, Rouleau GA. SYNE1 mutations in autosomal recessive cerebellar ataxia. Jama Neurology. 70: 1296-31. PMID 23959263 DOI: 10.1001/Jamaneurol.2013.3268 |
0.474 |
|
| 2013 |
Chaunu MP, Deramecourt V, Buée-Scherrer V, Le Ber I, Brice A, Ehrle N, El Hachimi K, Pluot M, Maurage CA, Bakchine S, Buée L. Juvenile frontotemporal dementia with parkinsonism associated with tau mutation G389R. Journal of Alzheimer's Disease : Jad. 37: 769-76. PMID 23948919 DOI: 10.3233/Jad-130413 |
0.349 |
|
| 2013 |
Moskvina V, Harold D, Russo G, Vedernikov A, Sharma M, Saad M, Holmans P, Bras JM, Bettella F, Keller MF, Nicolaou N, Simón-Sánchez J, Gibbs JR, Schulte C, Durr A, ... ... Brice A, et al. Analysis of genome-wide association studies of Alzheimer disease and of Parkinson disease to determine if these 2 diseases share a common genetic risk. Jama Neurology. 70: 1268-76. PMID 23921447 DOI: 10.1001/Jamaneurol.2013.448 |
0.351 |
|
| 2013 |
Mancini C, Roncaglia P, Brussino A, Stevanin G, Lo Buono N, Krmac H, Maltecca F, Gazzano E, Bartoletti Stella A, Calvaruso MA, Iommarini L, Cagnoli C, Forlani S, Le Ber I, Durr A, ... Brice A, et al. Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways. Bmc Medical Genomics. 6: 22. PMID 23777634 DOI: 10.1186/1755-8794-6-22 |
0.307 |
|
| 2013 |
Lattante S, Le Ber I, Camuzat A, Dayan S, Godard C, Van Bortel I, De Septenville A, Ciura S, Brice A, Kabashi E. TREM2 mutations are rare in a French cohort of patients with frontotemporal dementia. Neurobiology of Aging. 34: 2443.e1-2. PMID 23759145 DOI: 10.1016/J.Neurobiolaging.2013.04.030 |
0.379 |
|
| 2013 |
Mitsui J, Matsukawa T, Ishiura H, Fukuda Y, Ichikawa Y, Date H, Ahsan B, Nakahara Y, Momose Y, Takahashi Y, Iwata A, Goto J, Yamamoto Y, Komata M, Shirahige K, ... ... Brice A, et al. Mutations in COQ2 in familial and sporadic multiple-system atrophy the multiple-system atrophy research collaboration New England Journal of Medicine. 369: 233-244. PMID 23758206 DOI: 10.1056/Nejmoa1212115 |
0.482 |
|
| 2013 |
Boukhris A, Schule R, Loureiro JL, Lourenço CM, Mundwiller E, Gonzalez MA, Charles P, Gauthier J, Rekik I, Acosta Lebrigio RF, Gaussen M, Speziani F, Ferbert A, Feki I, Caballero-Oteyza A, ... ... Brice A, et al. Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia. American Journal of Human Genetics. 93: 118-23. PMID 23746551 DOI: 10.1016/J.Ajhg.2013.05.006 |
0.373 |
|
| 2013 |
Depienne C, Bugiani M, Dupuits C, Galanaud D, Touitou V, Postma N, van Berkel C, Polder E, Tollard E, Darios F, Brice A, de Die-Smulders CE, Vles JS, Vanderver A, Uziel G, et al. Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study. The Lancet. Neurology. 12: 659-68. PMID 23707145 DOI: 10.1016/S1474-4422(13)70053-X |
0.301 |
|
| 2013 |
Serrano-Munuera C, Corral-Juan M, Stevanin G, San Nicolás H, Roig C, Corral J, Campos B, de Jorge L, Morcillo-Suárez C, Navarro A, Forlani S, Durr A, Kulisevsky J, Brice A, Sánchez I, et al. New subtype of spinocerebellar ataxia with altered vertical eye movements mapping to chromosome 1p32. Jama Neurology. 70: 764-71. PMID 23700170 DOI: 10.1001/Jamaneurol.2013.2311 |
0.401 |
|
| 2013 |
Guerreiro R, Kara E, Le Ber I, Bras J, Rohrer JD, Taipa R, Lashley T, Dupuits C, Gurunlian N, Mochel F, Warren JD, Hannequin D, Sedel F, Depienne C, Camuzat A, ... ... Brice A, et al. Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene. Jama Neurology. 70: 875-82. PMID 23649896 DOI: 10.1001/Jamaneurol.2013.698 |
0.478 |
|
| 2013 |
Nalls MA, Duran R, Lopez G, Kurzawa-Akanbi M, McKeith IG, Chinnery PF, Morris CM, Theuns J, Crosiers D, Cras P, Engelborghs S, De Deyn PP, Van Broeckhoven C, Mann DM, Snowden J, ... ... Brice A, et al. A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies. Jama Neurology. 70: 727-35. PMID 23588557 DOI: 10.1001/Jamaneurol.2013.1925 |
0.441 |
|
| 2013 |
Lattante S, Ber IL, Camuzat A, Pariente J, Brice A, Kabashi E. Screening UBQLN-2 in French frontotemporal lobar degeneration and frontotemporal lobar degeneration-amyotrophic lateral sclerosis patients. Neurobiology of Aging. 34. PMID 23582661 DOI: 10.1016/J.Neurobiolaging.2013.03.002 |
0.435 |
|
| 2013 |
Lesage S, Anheim M, Letournel F, Bousset L, Honoré A, Rozas N, Pieri L, Madiona K, Dürr A, Melki R, Verny C, Brice A. G51D α-synuclein mutation causes a novel parkinsonian-pyramidal syndrome. Annals of Neurology. 73: 459-71. PMID 23526723 DOI: 10.1002/Ana.23894 |
0.373 |
|
| 2013 |
Stogmann E, Reinthaler E, Eltawil S, El Etribi MA, Hemeda M, El Nahhas N, Gaber AM, Fouad A, Edris S, Benet-Pages A, Eck SH, Pataraia E, Mei D, Brice A, Lesage S, et al. Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2. Brain : a Journal of Neurology. 136: 1155-60. PMID 23518707 DOI: 10.1093/Brain/Awt068 |
0.442 |
|
| 2013 |
Jezierska J, Stevanin G, Watanabe H, Fokkens MR, Zagnoli F, Kok J, Goas JY, Bertrand P, Robin C, Brice A, Bakalkin G, Durr A, Verbeek DS. Identification and characterization of novel PDYN mutations in dominant cerebellar ataxia cases. Journal of Neurology. 260: 1807-12. PMID 23471613 DOI: 10.1007/S00415-013-6882-6 |
0.43 |
|
| 2013 |
Duplan E, Giaime E, Viotti J, Sévalle J, Corti O, Brice A, Ariga H, Qi L, Checler F, Alves da Costa C. ER-stress-associated functional link between Parkin and DJ-1 via a transcriptional cascade involving the tumor suppressor p53 and the spliced X-box binding protein XBP-1. Journal of Cell Science. 126: 2124-33. PMID 23447676 DOI: 10.1242/Jcs.127340 |
0.312 |
|
| 2013 |
Lesage S, Le Ber I, Condroyer C, Broussolle E, Gabelle A, Thobois S, Pasquier F, Mondon K, Dion PA, Rochefort D, Rouleau GA, Dürr A, Brice A. C9orf72 repeat expansions are a rare genetic cause of parkinsonism. Brain : a Journal of Neurology. 136: 385-91. PMID 23413259 DOI: 10.1093/Brain/Aws357 |
0.338 |
|
| 2013 |
Klebe S, Golmard JL, Nalls MA, Saad M, Singleton AB, Bras JM, Hardy J, Simon-Sanchez J, Heutink P, Kuhlenbäumer G, Charfi R, Klein C, Hagenah J, Gasser T, Wurster I, ... ... Brice A, et al. The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism. Journal of Neurology, Neurosurgery, and Psychiatry. 84: 666-73. PMID 23408064 DOI: 10.1136/Jnnp-2012-304475 |
0.333 |
|
| 2013 |
Martin E, Schüle R, Smets K, Rastetter A, Boukhris A, Loureiro JL, Gonzalez MA, Mundwiller E, Deconinck T, Wessner M, Jornea L, Oteyza AC, Durr A, Martin JJ, Schöls L, ... ... Brice A, et al. Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia. American Journal of Human Genetics. 92: 238-44. PMID 23332916 DOI: 10.1016/J.Ajhg.2012.11.021 |
0.324 |
|
| 2013 |
Le Ber I, Camuzat A, Guillot-Noel L, Hannequin D, Lacomblez L, Golfier V, Puel M, Martinaud O, Deramecourt V, Rivaud-Pechoux S, Millecamps S, Vercelletto M, Couratier P, Sellal F, Pasquier F, ... ... Brice A, et al. C9ORF72 repeat expansions in the frontotemporal dementias spectrum of diseases: a flow-chart for genetic testing. Journal of Alzheimer's Disease : Jad. 34: 485-99. PMID 23254636 DOI: 10.3233/Jad-121456 |
0.447 |
|
| 2013 |
Holmans P, Moskvina V, Jones L, Sharma M, Vedernikov A, Buchel F, Saad M, Sadd M, Bras JM, Bettella F, Nicolaou N, Simón-Sánchez J, Mittag F, Gibbs JR, ... ... Brice A, et al. A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease. Human Molecular Genetics. 22: 1039-49. PMID 23223016 DOI: 10.1093/Hmg/Dds492 |
0.351 |
|
| 2013 |
Corti O, Brice A. Mitochondrial quality control turns out to be the principal suspect in parkin and PINK1-related autosomal recessive Parkinson's disease Current Opinion in Neurobiology. 23: 100-108. PMID 23206589 DOI: 10.1016/J.Conb.2012.11.002 |
0.329 |
|
| 2013 |
Lattante S, Le Ber I, Camuzat A, Brice A, Kabashi E. Mutations in the PFN1 gene are not a common cause in patients with amyotrophic lateral sclerosis and frontotemporal lobar degeneration in France. Neurobiology of Aging. 34: 1709.e1-2. PMID 23182804 DOI: 10.1016/j.neurobiolaging.2012.10.026 |
0.383 |
|
| 2013 |
Collongues N, Depienne C, Boehm N, Echaniz-Laguna A, Samama B, Dürr A, Stevanin G, Leguern E, Brice A, Labauge P, Seze Jd. Novel SPG10 mutation associated with dysautonomia, spinal cord atrophy, and skin biopsy abnormality European Journal of Neurology. 20: 398-401. PMID 22788249 DOI: 10.1111/J.1468-1331.2012.03803.X |
0.36 |
|
| 2013 |
Keller MF, Saad M, Bras J, Bettella F, Nicolaou N, Siḿn-śnchez J, Mittag F, B̈chel F, Sharma M, Gibbs JR, Schulte C, Moskvina V, Durr A, Holmans P, Kilarski LL, ... ... Brice A, et al. Corrigendum to Using genome-wide complex trait analysis to quantify 'missing heritability' in parkinson's disease [Human Molecular Genetics, 21:22 (2012) 4996-5009] doi: 10.1093/hmg/dds335] Human Molecular Genetics. 22: 1696. DOI: 10.1093/Hmg/Ddt030 |
0.317 |
|
| 2013 |
Hamadouche T, Belarbi S, Hecham N, Lesage S, Brice A, Tazir M, Benhassine T. Diagnostic génétique de la forme PARK8 de la maladie de Parkinson en Algérie par recherche de la mutation c 6055G>A (p gly2019ser) dans le gène LRRK2 Revue Neurologique. 169. DOI: 10.1016/J.Neurol.2013.01.291 |
0.33 |
|
| 2013 |
Obayashi M, Ishikawa K, Stevanin G, Synofzik M, Klopstock T, Mizusawa H, Dürr A, Brice A. Spinocerebellar ataxia type 36 (SCA36): Expanding the Genotype and Phenotype Journal of the Neurological Sciences. 333. DOI: 10.1016/J.Jns.2013.07.517 |
0.304 |
|
| 2013 |
Klebe S, Lossos A, Azzedine H, Mundwiller E, Meiner V, Gaussen M, Marelli C, Nawara M, Carpentier W, Meyer V, Raststetter A, Martin E, Orlando L, Gyapay G, El-Hachimi K, ... ... Brice A, et al. KIF1A missense mutations in SPG30: Distinct phenotypes according to the nature of the mutations Basal Ganglia. 3: 66. DOI: 10.1016/J.Baga.2013.01.071 |
0.408 |
|
| 2012 |
Lee YC, Durr A, Majczenko K, Huang YH, Liu YC, Lien CC, Tsai PC, Ichikawa Y, Goto J, Monin ML, Li JZ, Chung MY, Mundwiller E, Shakkottai V, Liu TT, ... ... Brice A, et al. Mutations in KCND3 cause spinocerebellar ataxia type 22. Annals of Neurology. 72: 859-69. PMID 23280837 DOI: 10.1002/Ana.23701 |
0.45 |
|
| 2012 |
Tesson C, Nawara M, Salih MA, Rossignol R, Zaki MS, Al Balwi M, Schule R, Mignot C, Obre E, Bouhouche A, Santorelli FM, Durand CM, Oteyza AC, El-Hachimi KH, Al Drees A, ... ... Brice A, et al. Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia. American Journal of Human Genetics. 91: 1051-64. PMID 23176821 DOI: 10.1016/J.Ajhg.2012.11.001 |
0.42 |
|
| 2012 |
Sharma M, Ioannidis JP, Aasly JO, Annesi G, Brice A, Bertram L, Bozi M, Barcikowska M, Crosiers D, Clarke CE, Facheris MF, Farrer M, Garraux G, Gispert S, Auburger G, et al. A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants. Journal of Medical Genetics. 49: 721-6. PMID 23125461 DOI: 10.1136/Jmedgenet-2012-101155 |
0.319 |
|
| 2012 |
Nava C, Lamari F, Héron D, Mignot C, Rastetter A, Keren B, Cohen D, Faudet A, Bouteiller D, Gilleron M, Jacquette A, Whalen S, Afenjar A, Périsse D, Laurent C, ... ... Brice A, et al. Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE. Translational Psychiatry. 2: e179. PMID 23092983 DOI: 10.1038/Tp.2012.102 |
0.391 |
|
| 2012 |
Apartis E, Blancher A, Meissner WG, Guyant-Maréchal L, Maltête D, De Broucker T, Legrand AP, Bouzenada H, Thanh HT, Sallansonnet-Froment M, Wang A, Tison F, Roué-Jagot C, Sedel F, Charles P, ... ... Brice A, et al. FXTAS: new insights and the need for revised diagnostic criteria. Neurology. 79: 1898-907. PMID 23077007 DOI: 10.1212/Wnl.0B013E318271F7Ff |
0.386 |
|
| 2012 |
Klebe S, Depienne C, Gerber S, Challe G, Anheim M, Charles P, Fedirko E, Lejeune E, Cottineau J, Brusco A, Dollfus H, Chinnery PF, Mancini C, Ferrer X, Sole G, ... ... Brice A, et al. Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy. Brain : a Journal of Neurology. 135: 2980-93. PMID 23065789 DOI: 10.1093/brain/aws240 |
0.429 |
|
| 2012 |
Mochel F, Schiffmann R, Steenweg ME, Akman HO, Wallace M, Sedel F, Laforêt P, Levy R, Powers JM, Demeret S, Maisonobe T, Froissart R, Da Nobrega BB, Fogel BL, Natowicz MR, ... ... Brice A, et al. Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings. Annals of Neurology. 72: 433-41. PMID 23034915 DOI: 10.1002/Ana.23598 |
0.391 |
|
| 2012 |
Martin E, Yanicostas C, Rastetter A, Naini SMA, Maouedj A, Kabashi E, Rivaud-Péchoux S, Brice A, Stevanin G, Soussi-Yanicostas N. Spatacsin and spastizin act in the same pathway required for proper spinal motor neuron axon outgrowth in zebrafish. Neurobiology of Disease. 48: 299-308. PMID 22801083 DOI: 10.1016/J.Nbd.2012.07.003 |
0.384 |
|
| 2012 |
Mittag F, Büchel F, Saad M, Jahn A, Schulte C, Bochdanovits Z, Simón-Sánchez J, Nalls MA, Keller M, Hernandez DG, Gibbs JR, Lesage S, Brice A, Heutink P, Martinez M, et al. Use of support vector machines for disease risk prediction in genome-wide association studies: concerns and opportunities. Human Mutation. 33: 1708-18. PMID 22777693 DOI: 10.1002/Humu.22161 |
0.326 |
|
| 2012 |
Méneret A, Grabli D, Depienne C, Gaudebout C, Picard F, Dürr A, Lagroua I, Bouteiller D, Mignot C, Doummar D, Anheim M, Tranchant C, Burbaud P, Jedynak CP, Gras D, ... ... Brice A, et al. PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population. Neurology. 79: 170-4. PMID 22744660 DOI: 10.1212/Wnl.0B013E31825F06C3 |
0.439 |
|
| 2012 |
Deramecourt V, Lebert F, Maurage CA, Fernandez-Gomez FJ, Dujardin S, Colin M, Sergeant N, Buée-Scherrer V, Clot F, Ber IL, Brice A, Pasquier F, Buée L. Clinical, neuropathological, and biochemical characterization of the novel tau mutation P332S. Journal of Alzheimer's Disease : Jad. 31: 741-9. PMID 22699846 DOI: 10.3233/Jad-2012-120160 |
0.46 |
|
| 2012 |
Thevenon J, Lopez E, Keren B, Heron D, Mignot C, Altuzarra C, Béri-Dexheimer M, Bonnet C, Magnin E, Burglen L, Minot D, Vigneron J, Morle S, Anheim M, Charles P, ... Brice A, et al. Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability. Journal of Medical Genetics. 49: 400-8. PMID 22693284 DOI: 10.1136/Jmedgenet-2012-100856 |
0.444 |
|
| 2012 |
Lesage S, Condroyer C, Klebe S, Lohmann E, Durif F, Damier P, Tison F, Anheim M, Honoré A, Viallet F, Bonnet AM, Ouvrard-Hernandez AM, Vidailhet M, Durr A, Brice A, et al. EIF4G1 in familial Parkinson's disease: pathogenic mutations or rare benign variants? Neurobiology of Aging. 33: 2233.e1-2233.e5. PMID 22658323 DOI: 10.1016/J.Neurobiolaging.2012.05.006 |
0.326 |
|
| 2012 |
Edvardson S, Cinnamon Y, Ta-Shma A, Shaag A, Yim YI, Zenvirt S, Jalas C, Lesage S, Brice A, Taraboulos A, Kaestner KH, Greene LE, Elpeleg O. A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism. Plos One. 7: e36458. PMID 22563501 DOI: 10.1371/Journal.Pone.0036458 |
0.446 |
|
| 2012 |
Lesage S, Condroyer C, Klebe S, Honoré A, Tison F, Brefel-Courbon C, Dürr A, Brice A. Clinical/scientific notes Neurology. 78: 1449-1450. PMID 22517097 DOI: 10.1212/Wnl.0B013E318253D5F2 |
0.502 |
|
| 2012 |
Millecamps S, Boillée S, Le Ber I, Seilhean D, Teyssou E, Giraudeau M, Moigneu C, Vandenberghe N, Danel-Brunaud V, Corcia P, Pradat PF, Le Forestier N, Lacomblez L, Bruneteau G, Camu W, ... Brice A, et al. Phenotype difference between ALS patients with expanded repeats in C9ORF72 and patients with mutations in other ALS-related genes. Journal of Medical Genetics. 49: 258-63. PMID 22499346 DOI: 10.1136/Jmedgenet-2011-100699 |
0.381 |
|
| 2012 |
Tezenas du Montcel S, Charles P, Goizet C, Marelli C, Ribai P, Vincitorio C, Anheim M, Guyant-Maréchal L, Le Bayon A, Vandenberghe N, Tchikviladzé M, Devos D, Le Ber I, N'Guyen K, Cazeneuve C, ... ... Brice A, et al. Factors influencing disease progression in autosomal dominant cerebellar ataxia and spastic paraplegia. Archives of Neurology. 69: 500-8. PMID 22491195 DOI: 10.1001/Archneurol.2011.2713 |
0.335 |
|
| 2012 |
Yger M, Stojkovic T, Tardieu S, Maisonobe T, Brice A, Echaniz-Laguna A, Alembik Y, Girard S, Cazeneuve C, Leguern E, Dubourg O. Characteristics of clinical and electrophysiological pattern of Charcot-Marie-Tooth 4C. Journal of the Peripheral Nervous System : Jpns. 17: 112-22. PMID 22462672 DOI: 10.1111/J.1529-8027.2012.00382.X |
0.314 |
|
| 2012 |
Lill CM, Roehr JT, McQueen MB, Kavvoura FK, Bagade S, Schjeide BM, Schjeide LM, Meissner E, Zauft U, Allen NC, Liu T, Schilling M, Anderson KJ, Beecham G, Berg D, ... ... Brice A, et al. Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database. Plos Genetics. 8: e1002548. PMID 22438815 DOI: 10.1371/Journal.Pgen.1002548 |
0.334 |
|
| 2012 |
Simón-Sánchez J, Kilarski LL, Nalls MA, Martinez M, Schulte C, Holmans P, Gasser T, Hardy J, Singleton AB, Wood NW, Brice A, Heutink P, Williams N, et al. Cooperative genome-wide analysis shows increased homozygosity in early onset Parkinson's disease. Plos One. 7: e28787. PMID 22427796 DOI: 10.1371/Journal.Pone.0028787 |
0.358 |
|
| 2012 |
Anheim M, Mariani LL, Calvas P, Cheuret E, Zagnoli F, Odent S, Seguela C, Marelli C, Fritsch M, Delaunoy JP, Brice A, Dürr A, Koenig M. Exonic deletions of FXN and early-onset Friedreich ataxia. Archives of Neurology. 69: 912-6. PMID 22409940 DOI: 10.1001/Archneurol.2011.834 |
0.394 |
|
| 2012 |
Majounie E, Renton AE, Mok K, Dopper EG, Waite A, Rollinson S, Chiò A, Restagno G, Nicolaou N, Simon-Sanchez J, van Swieten JC, Abramzon Y, Johnson JO, Sendtner M, Pamphlett R, ... ... Brice A, et al. Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. The Lancet. Neurology. 11: 323-30. PMID 22406228 DOI: 10.1016/S1474-4422(12)70043-1 |
0.448 |
|
| 2012 |
Depienne C, Bouteiller D, Méneret A, Billot S, Groppa S, Klebe S, Charbonnier-Beaupel F, Corvol JC, Saraiva JP, Brueggemann N, Bhatia K, Cincotta M, Brochard V, Flamand-Roze C, Carpentier W, ... ... Brice A, et al. RAD51 haploinsufficiency causes congenital mirror movements in humans. American Journal of Human Genetics. 90: 301-7. PMID 22305526 DOI: 10.1016/J.Ajhg.2011.12.002 |
0.406 |
|
| 2012 |
Anheim M, Elbaz A, Lesage S, Durr A, Condroyer C, Viallet F, Pollak P, Bonaïti B, Bonaïti-Pellié C, Brice A. Penetrance of Parkinson disease in glucocerebrosidase gene mutation carriers. Neurology. 78: 417-20. PMID 22282650 DOI: 10.1212/Wnl.0B013E318245F476 |
0.456 |
|
| 2012 |
Klebe S, Lossos A, Azzedine H, Mundwiller E, Sheffer R, Gaussen M, Marelli C, Nawara M, Carpentier W, Meyer V, Rastetter A, Martin E, Bouteiller D, Orlando L, Gyapay G, ... ... Brice A, et al. KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations. European Journal of Human Genetics : Ejhg. 20: 645-9. PMID 22258533 DOI: 10.1038/Ejhg.2011.261 |
0.508 |
|
| 2012 |
Lohmann E, Dursun B, Lesage S, Hanagasi HA, Sevinc G, Honore A, Bilgic B, Gürvit H, Dogu O, Kaleagası H, Babacan G, Yazici J, Erginel-Unaltuna N, Brice A, Emre M. Genetic bases and phenotypes of autosomal recessive Parkinson disease in a Turkish population. European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies. 19: 769-75. PMID 22233331 DOI: 10.1111/J.1468-1331.2011.03639.X |
0.507 |
|
| 2012 |
Millecamps S, Corcia P, Cazeneuve C, Boillée S, Seilhean D, Danel-Brunaud V, Vandenberghe N, Pradat PF, Le Forestier N, Lacomblez L, Bruneteau G, Camu W, Brice A, Meininger V, LeGuern E, et al. Mutations in UBQLN2 are rare in French amyotrophic lateral sclerosis. Neurobiology of Aging. 33: 839.e1-3. PMID 22169395 DOI: 10.1016/J.Neurobiolaging.2011.11.010 |
0.331 |
|
| 2012 |
Lesage S, Brice A. Role of mendelian genes in "sporadic" Parkinson's disease. Parkinsonism & Related Disorders. 18: S66-70. PMID 22166458 DOI: 10.1016/S1353-8020(11)70022-0 |
0.403 |
|
| 2012 |
Koht J, Stevanin G, Durr A, Mundwiller E, Brice A, Tallaksen CME. SCA14 in Norway, two families with autosomal dominant cerebellar ataxia and a novel mutation in the PRKCG gene. Acta Neurologica Scandinavica. 125: 116-122. PMID 21434874 DOI: 10.1111/J.1600-0404.2011.01504.X |
0.497 |
|
| 2012 |
Collongues N, Depienne C, Boehm N, Echaniz-Laguna A, Samama B, Durr A, Stevanin G, Leguern E, Brice A, Labauge P, Seze JD. Novel SPG10 Mutation Associated with Hereditary Spastic Paraplegia and Dysautonomia (P05.194) Neurology. 78. DOI: 10.1212/Wnl.78.1_Meetingabstracts.P05.194 |
0.419 |
|
| 2012 |
Ber IL, Camuzat A, Hannequin D, Lacomblez L, Couratier P, Guillot-Noel L, Habert MO, Seilhean D, Golfier V, Puel M, Martinaud O, Deramecourt V, Vercelletto M, Sellal F, Pasquier F, ... ... Brice A, et al. Fréquence et phénotypes associés aux mutations du gène c9orf72 dans une cohorte française de patients atteints de DLFT Revue Neurologique. 168. DOI: 10.1016/J.Neurol.2012.01.510 |
0.379 |
|
| 2012 |
Collongues N, Depienne C, Boehm N, Echaniz-Laguna A, Brice A, Labauge P, Seze JD. Nouvelle mutation SPG10 associée à une atrophie médullaire, une dysautonomie et des anomalies à la biopsie cutanée Revue Neurologique. 168. DOI: 10.1016/J.Neurol.2012.01.032 |
0.336 |
|
| 2011 |
Depienne C, Brice A. Unlocking the genetics of paroxysmal kinesigenic dyskinesia Brain. 134: 3431-3434. PMID 22171352 DOI: 10.1093/Brain/Awr319 |
0.365 |
|
| 2011 |
Ishikawa K, Dürr A, Klopstock T, Müller S, De Toffol B, Vidailhet M, Vighetto A, Marelli C, Wichmann HE, Illig T, Niimi Y, Sato N, Amino T, Stevanin G, Brice A, et al. Pentanucleotide repeats at the spinocerebellar ataxia type 31 (SCA31) locus in Caucasians. Neurology. 77: 1853-5. PMID 22049201 DOI: 10.1212/Wnl.0B013E3182377E3A |
0.422 |
|
| 2011 |
Corti O, Lesage S, Brice A. What genetics tells us about the causes and mechanisms of Parkinson's disease. Physiological Reviews. 91: 1161-218. PMID 22013209 DOI: 10.1152/Physrev.00022.2010 |
0.393 |
|
| 2011 |
Hanagasi HA, Lohmann E, Dursun B, Honoré A, Lesage S, Dogu O, Kaleagasi H, Aydın O, Gürvit H, Erginel-Unaltuna N, Brice A, Emre M. LRRK2 mutations are uncommon in Turkey. European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies. 18: e137. PMID 21914047 DOI: 10.1111/J.1468-1331.2011.03471.X |
0.4 |
|
| 2011 |
Rodrigues GR, Walker RH, Bader B, Danek A, Brice A, Cazeneuve C, Russaouen O, Lopes-Cendes I, Marques Jr W, Tumas V. Clinical and genetic analysis of 29 Brazilian patients with Huntington's disease-like phenotype. Arquivos De Neuro-Psiquiatria. 69: 419-23. PMID 21755114 DOI: 10.1590/S0004-282X2011000400002 |
0.437 |
|
| 2011 |
Bardien S, Lesage S, Brice A, Carr J. Genetic characteristics of leucine-rich repeat kinase 2 (LRRK2) associated Parkinson's disease Parkinsonism and Related Disorders. 17: 501-508. PMID 21641266 DOI: 10.1016/J.Parkreldis.2010.11.008 |
0.304 |
|
| 2011 |
Goizet C, Depienne C, Benard G, Boukhris A, Mundwiller E, Solé G, Coupry I, Pilliod J, Martin-Négrier ML, Fedirko E, Forlani S, Cazeneuve C, Hannequin D, Charles P, Feki I, ... ... Brice A, et al. REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction. Human Mutation. 32: 1118-27. PMID 21618648 DOI: 10.1002/Humu.21542 |
0.468 |
|
| 2011 |
Marelli C, van de Leemput J, Johnson JO, Tison F, Thauvin-Robinet C, Picard F, Tranchant C, Hernandez DG, Huttin B, Boulliat J, Sangla I, Marescaux C, Brique S, Dollfus H, Arepalli S, ... ... Brice A, et al. SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia. Archives of Neurology. 68: 637-43. PMID 21555639 DOI: 10.1001/Archneurol.2011.81 |
0.425 |
|
| 2011 |
Marelli C, Cazeneuve C, Brice A, Stevanin G, Dürr A. Autosomal dominant cerebellar ataxias. Revue Neurologique. 167: 385-400. PMID 21546047 DOI: 10.1016/J.Neurol.2011.01.015 |
0.466 |
|
| 2011 |
Murmu RP, Martin E, Rastetter A, Esteves T, Muriel MP, El Hachimi KH, Denora PS, Dauphin A, Fernandez JC, Duyckaerts C, Brice A, Darios F, Stevanin G. Cellular distribution and subcellular localization of spatacsin and spastizin, two proteins involved in hereditary spastic paraplegia. Molecular and Cellular Neurosciences. 47: 191-202. PMID 21545838 DOI: 10.1016/J.Mcn.2011.04.004 |
0.311 |
|
| 2011 |
Assami S, Azzedine H, Nouioua S, Mundwiller E, Mahoui S, Makri S, Djemai M, Grid D, Brice A, Hamadouche T, Stevanin G, Tazir M. Pantothenate kinase-associated neurodegeneration: clinical description of 10 patients and identification of new mutations. Movement Disorders. 26: 1777-1779. PMID 21442655 DOI: 10.1002/Mds.23648 |
0.381 |
|
| 2011 |
Lesage S, Condroyer C, Hecham N, Anheim M, Belarbi S, Lohman E, Viallet F, Pollak P, Abada M, Dürr A, Tazir M, Brice A. Mutations in the glucocerebrosidase gene confer a risk for Parkinson disease in North Africa. Neurology. 76: 301-3. PMID 21242499 DOI: 10.1212/Wnl.0B013E318207B01E |
0.452 |
|
| 2011 |
Depienne C, Cincotta M, Billot S, Bouteiller D, Groppa S, Brochard V, Flamand C, Hubsch C, Meunier S, Giovannelli F, Klebe S, Corvol JC, Vidailhet M, Brice A, Roze E. A novel DCC mutation and genetic heterogeneity in congenital mirror movements Neurology. 76: 260-264. PMID 21242494 DOI: 10.1212/Wnl.0B013E318207B1E0 |
0.441 |
|
| 2011 |
Millecamps S, Boillée S, Chabrol E, Camu W, Cazeneuve C, Salachas F, Pradat PF, Danel-Brunaud V, Vandenberghe N, Corcia P, Le Forestier N, Lacomblez L, Bruneteau G, Seilhean D, Brice A, et al. Screening of OPTN in French familial amyotrophic lateral sclerosis. Neurobiology of Aging. 32: 557.e11-3. PMID 21220178 DOI: 10.1016/J.Neurobiolaging.2010.11.005 |
0.314 |
|
| 2011 |
Broustal O, Camuzat A, Guillot-Noël L, Guy N, Millecamps S, Deffond D, Lacomblez L, Golfier V, Hannequin D, Salachas F, Camu W, Didic M, Dubois B, Meininger V, Le Ber I, ... Brice A, et al. FUS mutations in frontotemporal lobar degeneration with amyotrophic lateral sclerosis. Journal of Alzheimer's Disease : Jad. 22: 765-9. PMID 21158017 |
0.326 |
|
| 2011 |
Marelli C, Amati-Bonneau P, Reynier P, Layet V, Layet A, Stevanin G, Brissaud E, Bonneau D, Durr A, Brice A. Heterozygous OPA1 mutations in Behr syndrome. Brain. 134: 169170. PMID 21112924 DOI: 10.1093/Brain/Awq306 |
0.394 |
|
| 2011 |
Clot F, Grabli D, Burbaud P, Aya M, Derkinderen P, Defebvre L, Damier P, Krystkowiak P, Pollak P, Leguern E, San C, Camuzat A, Roze E, Vidailhet M, Durr A, ... Brice A, et al. Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype. Neurogenetics. 12: 87-9. PMID 21110056 DOI: 10.1007/S10048-010-0264-3 |
0.42 |
|
| 2011 |
Saad M, Lesage S, Saint-Pierre A, Corvol JC, Zelenika D, Lambert JC, Vidailhet M, Mellick GD, Lohmann E, Durif F, Pollak P, Damier P, Tison F, Silburn PA, Tzourio C, ... ... Brice A, et al. Genome-wide association study confirms BST1 and suggests a locus on 12q24 as the risk loci for Parkinson's disease in the European population. Human Molecular Genetics. 20: 615-27. PMID 21084426 DOI: 10.1093/Hmg/Ddq497 |
0.323 |
|
| 2011 |
Lesage S, Anheim M, Condroyer C, Pollak P, Durif F, Dupuits C, Viallet F, Lohmann E, Corvol JC, Honoré A, Rivaud S, Vidailhet M, Dürr A, Brice A. Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease. Human Molecular Genetics. 20: 202-10. PMID 20947659 DOI: 10.1093/Hmg/Ddq454 |
0.368 |
|
| 2011 |
Takahashi-Fujigasaki J, Breidert T, Fujigasaki H, Duyckaerts C, Camonis JH, Brice A, Lebre AS. Amyloid precursor-like protein 2 cleavage contributes to neuronal intranuclear inclusions and cytotoxicity in spinocerebellar ataxia-7 (SCA7). Neurobiology of Disease. 41: 33-42. PMID 20732423 DOI: 10.1016/J.Nbd.2010.08.016 |
0.358 |
|
| 2011 |
Cousin E, Macé S, Rocher C, Dib C, Muzard G, Hannequin D, Pradier L, Deleuze JF, Génin E, Brice A, Campion D. No replication of genetic association between candidate polymorphisms and Alzheimer's disease. Neurobiology of Aging. 32: 1443-51. PMID 19889475 DOI: 10.1016/J.Neurobiolaging.2009.09.004 |
0.373 |
|
| 2011 |
Serrano-Munuera C, Corral-Juan M, Corra J, Nicolás HS, Jorge LD, Roig C, Tesson C, Forlani S, Mundwiller E, Carpentier W, Sánchez I, Durr A, Stevanin G, Brice A, Martinez M, et al. Autosomal dominant late onset ataxia linked to a new locus: Last but not least F1000research. 2. DOI: 10.7490/F1000Research.1522.1 |
0.362 |
|
| 2010 |
Vermeer S, Hoischen A, Meijer RP, Gilissen C, Neveling K, Wieskamp N, de Brouwer A, Koenig M, Anheim M, Assoum M, Drouot N, Todorovic S, Milic-Rasic V, Lochmüller H, Stevanin G, ... ... Brice A, et al. Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia. American Journal of Human Genetics. 87: 813-9. PMID 21092923 DOI: 10.1016/J.Ajhg.2010.10.015 |
0.47 |
|
| 2010 |
Belarbi S, Hecham N, Lesage S, Kediha MI, Smail N, Benhassine T, Ysmail-Dahlouk F, Lohman E, Benhabyles B, Hamadouche T, Assami S, Brice A, Tazir M. LRRK2 G2019S mutation in Parkinson's disease: a neuropsychological and neuropsychiatric study in a large Algerian cohort. Parkinsonism & Related Disorders. 16: 676-9. PMID 20933457 DOI: 10.1016/J.Parkreldis.2010.09.003 |
0.396 |
|
| 2010 |
Troiano AR, Elbaz A, Lohmann E, Belarbi S, Vidailhet M, Bonnet AM, Lesage S, Pollak P, Cazeneuve C, Borg M, Feingold J, Dürr A, Tazir M, Brice A. Low disease risk in relatives of north african lrrk2 Parkinson disease patients. Neurology. 75: 1118-9. PMID 20855856 DOI: 10.1212/Wnl.0B013E3181F39A2E |
0.407 |
|
| 2010 |
Cagnoli C, Stevanin G, Brussino A, Barberis M, Mancini C, Margolis RL, Holmes SE, Nobili M, Forlani S, Padovan S, Pappi P, Zaros C, Leber I, Ribai P, Pugliese L, ... ... Brice A, et al. Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias. Human Mutation. 31: 1117-24. PMID 20725928 DOI: 10.1002/Humu.21342 |
0.423 |
|
| 2010 |
Vitte J, Traver S, Maués De Paula A, Lesage S, Rovelli G, Corti O, Duyckaerts C, Brice A. Leucine-rich repeat kinase 2 is associated with the endoplasmic reticulum in dopaminergic neurons and accumulates in the core of Lewy bodies in Parkinson disease. Journal of Neuropathology and Experimental Neurology. 69: 959-72. PMID 20720502 DOI: 10.1097/Nen.0B013E3181Efc01C |
0.757 |
|
| 2010 |
Bauer P, Stevanin G, Beetz C, Synofzik M, Schmitz-Hübsch T, Wüllner U, Berthier E, Ollagnon-Roman E, Riess O, Forlani S, Mundwiller E, Durr A, Schöls L, Brice A. Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindreds. Journal of Neurology, Neurosurgery, and Psychiatry. 81: 1229-32. PMID 20667868 DOI: 10.1136/Jnnp.2009.202150 |
0.481 |
|
| 2010 |
Ghanim M, Guillot-Noel L, Pasquier F, Jornea L, Deramecourt V, Dubois B, Ber IL, Brice A, Ftd, Mnd. CHMP2B mutations are rare in French families with frontotemporal lobar degeneration. Journal of Neurology. 257: 2032-2036. PMID 20625756 DOI: 10.1007/S00415-010-5655-8 |
0.462 |
|
| 2010 |
S?abicki M, Theis M, Krastev DB, Samsonov S, Mundwiller E, Junqueira M, Paszkowski-Rogacz M, Teyra J, Heninger AK, Poser I, Prieur F, Truchetto J, Confavreux C, Marelli C, Durr A, ... ... Brice A, et al. A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia. Plos Biology. 8: e1000408. PMID 20613862 DOI: 10.1371/Journal.Pbio.1000408 |
0.347 |
|
| 2010 |
Mitsui J, Takahashi Y, Goto J, Tomiyama H, Ishikawa S, Yoshino H, Minami N, Smith DI, Lesage S, Aburatani H, Nishino I, Brice A, Hattori N, Tsuji S. Mechanisms of genomic instabilities underlying two common fragile-site-associated loci, PARK2 and DMD, in germ cell and cancer cell lines. American Journal of Human Genetics. 87: 75-89. PMID 20598272 DOI: 10.1016/J.Ajhg.2010.06.006 |
0.325 |
|
| 2010 |
Boukhris A, Feki I, Elleuch N, Miladi MI, Boland-Augé A, Truchetto J, Mundwiller E, Jezequel N, Zelenika D, Mhiri C, Brice A, Stevanin G. A new locus (SPG46) maps to 9p21.2-q21.12 in a Tunisian family with a complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum. Neurogenetics. 11: 441-448. PMID 20593214 DOI: 10.1007/S10048-010-0249-2 |
0.437 |
|
| 2010 |
Millecamps S, Salachas F, Cazeneuve C, Gordon P, Bricka B, Camuzat A, Guillot-Noël L, Russaouen O, Bruneteau G, Pradat PF, Le Forestier N, Vandenberghe N, Danel-Brunaud V, Guy N, Thauvin-Robinet C, ... ... Brice A, et al. SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations. Journal of Medical Genetics. 47: 554-60. PMID 20577002 DOI: 10.1136/Jmg.2010.077180 |
0.437 |
|
| 2010 |
Keyser RJ, Lesage S, Brice A, Carr J, Bardien S. Assessing the prevalence of PINK1 genetic variants in South African patients diagnosed with early- and late-onset Parkinson's disease Biochemical and Biophysical Research Communications. 398: 125-129. PMID 20558144 DOI: 10.1016/J.Bbrc.2010.06.049 |
0.378 |
|
| 2010 |
Bardien S, Marsberg A, Keyser R, Lombard D, Lesage S, Brice A, Carr J. LRRK2 G2019S mutation: Frequency and haplotype data in South African Parkinson's disease patients Journal of Neural Transmission. 117: 847-853. PMID 20544233 DOI: 10.1007/S00702-010-0423-6 |
0.34 |
|
| 2010 |
Millecamps S, Da Barroca S, Cazeneuve C, Salachas F, Pradat PF, Danel-Brunaud V, Vandenberghe N, Lacomblez L, Le Forestier N, Bruneteau G, Camu W, Brice A, Meininger V, LeGuern E. Questioning on the role of D amino acid oxidase in familial amyotrophic lateral sclerosis. Proceedings of the National Academy of Sciences of the United States of America. 107: E107; author reply E. PMID 20538972 DOI: 10.1073/Pnas.1006190107 |
0.412 |
|
| 2010 |
Schlipf NA, Beetz C, Schüle R, Stevanin G, Erichsen AK, Forlani S, Zaros C, Karle K, Klebe S, Klimpe S, Durr A, Otto S, Tallaksen CM, Riess O, Brice A, et al. A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42). European Journal of Human Genetics : Ejhg. 18: 1065-7. PMID 20461110 DOI: 10.1038/ejhg.2010.68 |
0.375 |
|
| 2010 |
Lambert JC, Grenier-Boley B, Chouraki V, Heath S, Zelenika D, Fievet N, Hannequin D, Pasquier F, Hanon O, Brice A, Epelbaum J, Berr C, Dartigues JF, Tzourio C, Campion D, et al. Implication of the immune system in Alzheimer's disease: evidence from genome-wide pathway analysis. Journal of Alzheimer's Disease : Jad. 20: 1107-18. PMID 20413860 DOI: 10.3233/Jad-2010-100018 |
0.316 |
|
| 2010 |
Lesage S, Patin E, Condroyer C, Leutenegger AL, Lohmann E, Giladi N, Bar-Shira A, Belarbi S, Hecham N, Pollak P, Ouvrard-Hernandez AM, Bardien S, Carr J, Benhassine T, Tomiyama H, ... ... Brice A, et al. Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans. Human Molecular Genetics. 19: 1998-2004. PMID 20197411 DOI: 10.1093/Hmg/Ddq081 |
0.454 |
|
| 2010 |
Debs R, Depienne C, Rastetter A, Bellanger A, Degos B, Galanaud D, Keren B, Lyon-Caen O, Brice A, Sedel F. Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations. Archives of Neurology. 67: 126-30. PMID 20065143 DOI: 10.1001/Archneurol.2009.293 |
0.427 |
|
| 2010 |
Lesage S, Condroyer C, Lohman E, Troiano A, Tison F, Viallet F, Damier P, Tranchant C, Vidhaillet M, Ouvrard-Hernandez AM, Dürr A, Brice A. Follow-up study of the GIGYF2 gene in French families with Parkinson's disease. Neurobiology of Aging. 31: 1069-71; discussion . PMID 20004041 DOI: 10.1016/J.Neurobiolaging.2009.06.008 |
0.309 |
|
| 2010 |
Figueroa KP, Minassian NA, Stevanin G, Waters M, Garibyan V, Forlani S, Strzelczyk A, Bürk K, Brice A, Dürr A, Papazian DM, Pulst SM. KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients. Human Mutation. 31: 191-6. PMID 19953606 DOI: 10.1002/Humu.21165 |
0.436 |
|
| 2010 |
Janer A, Werner A, Takahashi-Fujigasaki J, Daret A, Fujigasaki H, Takada K, Duyckaerts C, Brice A, Dejean A, Sittler A. SUMOylation attenuates the aggregation propensity and cellular toxicity of the polyglutamine expanded ataxin-7. Human Molecular Genetics. 19: 181-95. PMID 19843541 DOI: 10.1093/Hmg/Ddp478 |
0.358 |
|
| 2010 |
Evangelou E, Maraganore DM, Annesi G, Brighina L, Brice A, Elbaz A, Ferrarese C, Hadjigeorgiou GM, Krueger R, Lambert JC, Lesage S, Markopoulou K, Mellick GD, Meeus B, Pedersen NL, et al. Non-replication of association for six polymorphisms from meta-analysis of genome-wide association studies of Parkinson's disease: large-scale collaborative study. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 153: 220-8. PMID 19475631 DOI: 10.1002/Ajmg.B.30980 |
0.304 |
|
| 2010 |
Broustal O, Camuzat A, Guillot-Noël L, Guy N, Millecamps S, Deffond D, Lacomblez L, Golfier V, Hannequin D, Salachas F, Camu W, Didic M, Dubois B, Meininger V, Ber IL, ... Brice A, et al. FUS Mutations in Frontotemporal Lobar Degeneration with Amyotrophic Lateral Sclerosis Journal of Alzheimer's Disease. 22: 765-769. DOI: 10.3233/Jad-2010-100837 |
0.437 |
|
| 2009 |
Corti O, Fournier M, Brice A. Neurodegeneration in Parkinson's disease: genetics enlightens physiopathology. Journal of Neural Transmission. Supplementum. 215-21. PMID 20411780 DOI: 10.1007/978-3-211-92660-4_17 |
0.435 |
|
| 2009 |
Pirkevi C, Lesage S, Brice A, BaÅŸak AN. From genes to proteins in mendelian Parkinson's disease: an overview. Anatomical Record (Hoboken, N.J. : 2007). 292: 1893-901. PMID 19943343 DOI: 10.1002/Ar.20968 |
0.385 |
|
| 2009 |
Goizet C, Boukhris A, Maltete D, Guyant-Maréchal L, Truchetto J, Mundwiller E, Hanein S, Jonveaux P, Roelens F, Loureiro J, Godet E, Forlani S, Melki J, Auer-Grumbach M, Fernandez JC, ... ... Brice A, et al. SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum Neurology. 73: 1111-1119. PMID 19805727 DOI: 10.1212/Wnl.0B013E3181Bacf59 |
0.698 |
|
| 2009 |
da Costa CA, Sunyach C, Giaime E, West A, Corti O, Brice A, Safe S, Abou-Sleiman PM, Wood NW, Takahashi H, Goldberg MS, Shen J, Checler F. Transcriptional repression of p53 by parkin and impairment by mutations associated with autosomal recessive juvenile Parkinson's disease. Nature Cell Biology. 11: 1370-5. PMID 19801972 DOI: 10.1038/Ncb1981 |
0.409 |
|
| 2009 |
Al-Chalabi A, Dürr A, Wood NW, Parkinson MH, Camuzat A, Hulot JS, Morrison KE, Renton A, Sussmuth SD, Landwehrmeyer BG, Ludolph A, Agid Y, Brice A, Leigh PN, Bensimon G, et al. Genetic variants of the alpha-synuclein gene SNCA are associated with multiple system atrophy. Plos One. 4: e7114. PMID 19771175 DOI: 10.1371/Journal.Pone.0007114 |
0.322 |
|
| 2009 |
Fournier M, Vitte J, Garrigue J, Langui D, Dullin JP, Saurini F, Hanoun N, Perez-Diaz F, Cornilleau F, Joubert C, Ardila-Osorio H, Traver S, Duchateau R, Goujet-Zalc C, Paleologou K, ... ... Brice A, et al. Parkin deficiency delays motor decline and disease manifestation in a mouse model of synucleinopathy. Plos One. 4: e6629. PMID 19680561 DOI: 10.1371/Journal.Pone.0006629 |
0.726 |
|
| 2009 |
Ribeiro MJ, Thobois S, Lohmann E, du Montcel ST, Lesage S, Pelissolo A, Dubois B, Mallet L, Pollak P, Agid Y, Broussolle E, Brice A, Remy P. A multitracer dopaminergic PET study of young-onset parkinsonian patients with and without parkin gene mutations. Journal of Nuclear Medicine : Official Publication, Society of Nuclear Medicine. 50: 1244-50. PMID 19617340 DOI: 10.2967/Jnumed.109.063529 |
0.356 |
|
| 2009 |
Muriel MP, Dauphin A, Namekawa M, Gervais A, Brice A, Ruberg M. Atlastin-1, the dynamin-like GTPase responsible for spastic paraplegia SPG3A, remodels lipid membranes and may form tubules and vesicles in the endoplasmic reticulum. Journal of Neurochemistry. 110: 1607-16. PMID 19573020 DOI: 10.1111/J.1471-4159.2009.06258.X |
0.325 |
|
| 2009 |
Clot F, Grabli D, Cazeneuve C, Roze E, Castelnau P, Chabrol B, Landrieu P, Nguyen K, Ponsot G, Abada M, Doummar D, Damier P, Gil R, Thobois S, Ward AJ, ... ... Brice A, et al. Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia Brain. 132: 1753-1763. PMID 19491146 DOI: 10.1093/Brain/Awp084 |
0.327 |
|
| 2009 |
Goizet C, Boukhris A, Durr A, Beetz C, Truchetto J, Tesson C, Tsaousidou M, Forlani S, Guyant-Maréchal L, Fontaine B, Guimarães J, Isidor B, Chazouillères O, Wendum D, Grid D, ... ... Brice A, et al. CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5. Brain. 132: 1589-1600. PMID 19439420 DOI: 10.1093/Brain/Awp073 |
0.48 |
|
| 2009 |
Le Ber I, Camuzat A, Berger E, Hannequin D, Laquerrière A, Golfier V, Seilhean D, Viennet G, Couratier P, Verpillat P, Heath S, Camu W, Martinaud O, Lacomblez L, Vercelletto M, ... ... Brice A, et al. Chromosome 9p-linked families with frontotemporal dementia associated with motor neuron disease. Neurology. 72: 1669-76. PMID 19433740 DOI: 10.1212/Wnl.0B013E3181A55F1C |
0.383 |
|
| 2009 |
Benajiba L, Le Ber I, Camuzat A, Lacoste M, Thomas-Anterion C, Couratier P, Legallic S, Salachas F, Hannequin D, Decousus M, Lacomblez L, Guedj E, Golfier V, Camu W, Dubois B, ... ... Brice A, et al. TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration. Annals of Neurology. 65: 470-3. PMID 19350673 DOI: 10.1002/Ana.21612 |
0.467 |
|
| 2009 |
Lesage S, Brice A. Parkinson's disease: From monogenic forms to genetic susceptibility factors Human Molecular Genetics. 18. PMID 19297401 DOI: 10.1093/Hmg/Ddp012 |
0.433 |
|
| 2009 |
Rovelet-Lecrux A, Lecourtois M, Thomas-Anterion C, Le Ber I, Brice A, Frebourg T, Hannequin D, Campion D. Partial deletion of the MAPT gene: a novel mechanism of FTDP-17. Human Mutation. 30: E591-602. PMID 19263483 DOI: 10.1002/Humu.20979 |
0.309 |
|
| 2009 |
Frédéric MY, Clot F, Blanchard A, Dhaenens CM, Lesca G, Cif L, Dürr A, Vidailhet M, Sablonniere B, Calender A, Martinez M, Molinari N, Brice A, Claustres M, Tuffery-Giraud S, et al. The p.Asp216His TOR1A allele effect is not found in the French population Movement Disorders. 24: 919-921. PMID 19260107 DOI: 10.1002/Mds.22407 |
0.39 |
|
| 2009 |
Anheim M, Lagier-Tourenne C, Stevanin G, Fleury M, Durr A, Namer IJ, Denora P, Brice A, Mandel JL, Koenig M, Tranchant C. SPG11 spastic paraplegia. A new cause of juvenile parkinsonism. Journal of Neurology. 256: 104-8. PMID 19224311 DOI: 10.1007/S00415-009-0083-3 |
0.479 |
|
| 2009 |
Cazeneuve C, Sân C, Ibrahim SA, Mukhtar MM, Kheir MM, Leguern E, Brice A, Salih MA. A new complex homozygous large rearrangement of the PINK1 gene in a Sudanese family with early onset Parkinson's disease. Neurogenetics. 10: 265-70. PMID 19214605 DOI: 10.1007/S10048-009-0174-4 |
0.406 |
|
| 2009 |
Depienne C, Bouteiller D, Keren B, Cheuret E, Poirier K, Trouillard O, Benyahia B, Quelin C, Carpentier W, Julia S, Afenjar A, Gautier A, Rivier F, Meyer S, Berquin P, ... ... Brice A, et al. Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. Plos Genetics. 5: e1000381. PMID 19214208 DOI: 10.1371/Journal.Pgen.1000381 |
0.339 |
|
| 2009 |
Pirkevi C, Lesage S, Condroyer C, Tomiyama H, Hattori N, Ertan S, Brice A, BaÅŸak AN. A LRRK2 G2019S mutation carrier from Turkey shares the Japanese haplotype. Neurogenetics. 10: 271-3. PMID 19172321 DOI: 10.1007/S10048-009-0173-5 |
0.429 |
|
| 2009 |
Mochel F, Sedel F, Vanderver A, Engelke UF, Barritault J, Yang BZ, Kulkarni B, Adams DR, Clot F, Ding JH, Kaneski CR, Verheijen FW, Smits BW, Seguin F, Brice A, et al. Cerebellar ataxia with elevated cerebrospinal free sialic acid (CAFSA). Brain : a Journal of Neurology. 132: 801-9. PMID 19153153 DOI: 10.1093/Brain/Awn355 |
0.35 |
|
| 2009 |
Ibáñez P, Lesage S, Janin S, Lohmann E, Durif F, Destée A, Bonnet AM, Brefel-Courbon C, Heath S, Zelenika D, Agid Y, Dürr A, Brice A. Alpha-synuclein gene rearrangements in dominantly inherited parkinsonism: frequency, phenotype, and mechanisms. Archives of Neurology. 66: 102-8. PMID 19139307 DOI: 10.1001/Archneurol.2008.555 |
0.473 |
|
| 2009 |
Denora PS, Schlesinger D, Casali C, Kok F, Tessa A, Boukhris A, Azzedine H, Dotti MT, Bruno C, Truchetto J, Biancheri R, Fedirko E, Di Rocco M, Bueno C, Malandrini A, ... ... Brice A, et al. Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion. Human Mutation. 30: E500-19. PMID 19105190 DOI: 10.1002/Humu.20945 |
0.474 |
|
| 2009 |
Lorenz D, Klebe S, Stevanin G, Thier S, Nebel A, Feingold J, Frederiksen H, Denis E, Christensen K, Schreiber S, Brice A, Deuschl G, Dürr A. Dopamine receptor D3 gene and essential tremor in large series of German, Danish and French patients. European Journal of Human Genetics : Ejhg. 17: 766-73. PMID 19092771 DOI: 10.1038/Ejhg.2008.243 |
0.38 |
|
| 2009 |
Denora PS, Muglia M, Casali C, Truchetto J, Silvestri G, Messina D, Boukrhis A, Magariello A, Modoni A, Masciullo M, Malandrini A, Morelli M, Leva MFd, Villanova M, Giugni E, ... ... Brice A, et al. Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population. Journal of the Neurological Sciences. 277: 22-25. PMID 19084844 DOI: 10.1016/J.Jns.2008.09.039 |
0.486 |
|
| 2009 |
Lohmann E, Thobois S, Lesage S, Broussolle E, du Montcel ST, Ribeiro MJ, Remy P, Pelissolo A, Dubois B, Mallet L, Pollak P, Agid Y, Brice A. A multidisciplinary study of patients with early-onset PD with and without parkin mutations. Neurology. 72: 110-6. PMID 18987353 DOI: 10.1212/01.Wnl.0000327098.86861.D4 |
0.454 |
|
| 2009 |
Goizet C, Boukhris A, Mundwiller E, Tallaksen C, Forlani S, Toutain A, Carriere N, Paquis V, Depienne C, Durr A, Stevanin G, Brice A. Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10 Human Mutation. 30. PMID 18853458 DOI: 10.1002/Humu.20920 |
0.494 |
|
| 2009 |
Lohmann E, Leclere L, De Anna F, Lesage S, Dubois B, Agid Y, Dürr A, Brice A. A clinical, neuropsychological and olfactory evaluation of a large family with LRRK2 mutations. Parkinsonism & Related Disorders. 15: 273-6. PMID 18718805 DOI: 10.1016/J.Parkreldis.2008.06.008 |
0.446 |
|
| 2009 |
Boukhris A, Feki I, Elleuch N, Miladi MI, Forlani S, Belal S, Brice A, Mhiri C, Stavanin G. FP31-WE-04 Complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum: a new locus and further genetic heterogeneity Journal of the Neurological Sciences. 285. DOI: 10.1016/S0022-510X(09)70432-0 |
0.33 |
|
| 2008 |
Lesage S, Belarbi S, Troiano A, Condroyer C, Hecham N, Pollak P, Lohman E, Benhassine T, Ysmail-Dahlouk F, Dürr A, Tazir M, Brice A. Is the common LRRK2 G2019S mutation related to dyskinesias in North African Parkinson disease? Neurology. 71: 1550-2. PMID 18981379 DOI: 10.1212/01.Wnl.0000338460.89796.06 |
0.403 |
|
| 2008 |
Rodrigues GG, Walker RH, Brice A, Cazeneuve C, Russaouen O, Teive HA, Munhoz RP, Becker N, Raskin S, Werneck LC, Junior WM, Tumas V. Huntington's disease-like 2 in Brazil--report of 4 patients. Movement Disorders : Official Journal of the Movement Disorder Society. 23: 2244-7. PMID 18816802 DOI: 10.1002/Mds.22223 |
0.446 |
|
| 2008 |
Stevanin G, Ruberg M, Brice A. Recent advances in the genetics of spastic paraplegias Current Neurology and Neuroscience Reports. 8: 198-210. PMID 18541115 DOI: 10.1007/S11910-008-0032-Z |
0.364 |
|
| 2008 |
Healy DG, Falchi M, O'Sullivan SS, Bonifati V, Durr A, Bressman S, Brice A, Aasly J, Zabetian CP, Goldwurm S, Ferreira JJ, Tolosa E, Kay DM, Klein C, Williams DR, et al. Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study. The Lancet. Neurology. 7: 583-90. PMID 18539534 DOI: 10.1016/S1474-4422(08)70117-0 |
0.417 |
|
| 2008 |
Rovelet-Lecrux A, Deramecourt V, Legallic S, Maurage CA, Le Ber I, Brice A, Lambert JC, Frébourg T, Hannequin D, Pasquier F, Campion D. Deletion of the progranulin gene in patients with frontotemporal lobar degeneration or Parkinson disease. Neurobiology of Disease. 31: 41-5. PMID 18479928 DOI: 10.1016/J.Nbd.2008.03.004 |
0.501 |
|
| 2008 |
Erichsen AK, Stevanin G, Denora P, Brice A, Tallaksen CME. SPG11--the most common type of recessive spastic paraplegia in Norway? Acta Neurologica Scandinavica. 117: 46-50. PMID 18439221 DOI: 10.1111/J.1600-0404.2008.01031.X |
0.447 |
|
| 2008 |
Hanein S, Martin E, Boukhris A, Byrne P, Goizet C, Hamri A, Benomar A, Lossos A, Denora P, Fernandez J, Elleuch N, Forlani S, Durr A, Feki I, Hutchinson M, ... ... Brice A, et al. Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome. American Journal of Human Genetics. 82: 992-1002. PMID 18394578 DOI: 10.1016/J.Ajhg.2008.03.004 |
0.443 |
|
| 2008 |
Roze E, Apartis E, Clot F, Dorison N, Thobois S, Guyant-Marechal L, Tranchant C, Damier P, Doummar D, Bahi-Buisson N, André-Obadia N, Maltete D, Echaniz-Laguna A, Pereon Y, Beaugendre Y, ... ... Brice A, et al. Myoclonus-dystonia: clinical and electrophysiologic pattern related to SGCE mutations. Neurology. 70: 1010-6. PMID 18362280 DOI: 10.1212/01.Wnl.0000297516.98574.C0 |
0.422 |
|
| 2008 |
Lautier C, Goldwurm S, Dürr A, Giovannone B, Tsiaras WG, Pezzoli G, Brice A, Smith RJ. Mutations in the GIGYF2 (TNRC15) gene at the PARK11 locus in familial Parkinson disease. American Journal of Human Genetics. 82: 822-33. PMID 18358451 DOI: 10.1016/j.ajhg.2008.01.015 |
0.327 |
|
| 2008 |
Boukhris A, Stevanin G, Feki I, Denis E, Elleuch N, Miladi MI, Truchetto J, Denora P, Belal S, Mhiri C, Brice A. Hereditary spastic paraplegia with mental impairment and thin corpus callosum in Tunisia: SPG11, SPG15, and further genetic heterogeneity. Jama Neurology. 65: 393-402. PMID 18332254 DOI: 10.1001/Archneur.65.3.393 |
0.443 |
|
| 2008 |
Frédéric MY, Clot F, Cif L, Blanchard A, Dürr A, Vuillaume I, Lesca G, Kreisler A, Davin C, Besnard T, Rousset F, Thorel D, Saquet C, Mechin D, Ozelius L, ... ... Brice A, et al. Is the early-onset torsion dystonia (EOTD) linked to TOR1A gene as frequent as expected in France? Neurogenetics. 9: 143-50. PMID 18322712 DOI: 10.1007/S10048-008-0123-7 |
0.487 |
|
| 2008 |
Chapuis J, Hannequin D, Pasquier F, Bentham P, Brice A, Leber I, Frebourg T, Deleuze JF, Cousin E, Thaker U, Amouyel P, Mann D, Lendon C, Campion D, Lambert JC. Association study of the GAB2 gene with the risk of developing Alzheimer's disease. Neurobiology of Disease. 30: 103-6. PMID 18272374 DOI: 10.1016/J.Nbd.2007.12.006 |
0.307 |
|
| 2008 |
Le Ber I, Camuzat A, Hannequin D, Pasquier F, Guedj E, Rovelet-Lecrux A, Hahn-Barma V, van der Zee J, Clot F, Bakchine S, Puel M, Ghanim M, Lacomblez L, Mikol J, Deramecourt V, ... ... Brice A, et al. Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study. Brain : a Journal of Neurology. 131: 732-46. PMID 18245784 DOI: 10.1093/Brain/Awn012 |
0.401 |
|
| 2008 |
Lohmann E, Welter ML, Fraix V, Krack P, Lesage S, Laine S, Tanguy ML, Houeto JL, Mesnage V, Pollak P, Durr A, Agid Y, Brice A. Are parkin patients particularly suited for deep-brain stimulation? Movement Disorders : Official Journal of the Movement Disorder Society. 23: 740-3. PMID 18228569 DOI: 10.1002/Mds.21903 |
0.408 |
|
| 2008 |
Boukhris A, Feki I, Denis E, Miladi MI, Brice A, Mhiri C, Stevanin G. Spastic paraplegia 15: Linkage and clinical description of three Tunisian families Movement Disorders. 23: 429-433. PMID 18098276 DOI: 10.1002/Mds.21848 |
0.431 |
|
| 2008 |
Stevanin G, Azzedine H, Denora P, Boukhris A, Tazir M, Lossos A, Rosa AL, Lerer I, Hamri A, Alegria P, Loureiro J, Tada M, Hannequin D, Anheim M, Goizet C, ... ... Brice A, et al. Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration. Brain : a Journal of Neurology. 131: 772-84. PMID 18079167 DOI: 10.1093/Brain/Awm293 |
0.48 |
|
| 2008 |
Ribaï P, Depienne C, Fedirko E, Jothy A, Viveweger C, Hahn-Barma V, Brice A, Durr A. Mental deficiency in three families with SPG4 spastic paraplegia. European Journal of Human Genetics. 16: 97-104. PMID 17957230 DOI: 10.1038/Sj.Ejhg.5201922 |
0.461 |
|
| 2007 |
Stevanin G, Brice A. Spinocerebellar Ataxia 17 (Sca17) And Huntington'S Disease-Like 4 (Hdl4) The Cerebellum. 7: 170-178. PMID 18418687 DOI: 10.1007/S12311-008-0016-1 |
0.456 |
|
| 2007 |
Depienne C, Stevanin G, Brice A, Durr A. Hereditary spastic paraplegias: an update Current Opinion in Neurology. 20: 674-680. PMID 17992088 DOI: 10.1097/Wco.0B013E3282F190Ba |
0.341 |
|
| 2007 |
Martins S, Calafell F, Gaspar C, Wong VC, Silveira I, Nicholson GA, Brunt ER, Tranebjaerg L, Stevanin G, Hsieh M, Soong BW, Loureiro L, Dürr A, Tsuji S, Watanabe M, ... ... Brice A, et al. Asian origin for the worldwide-spread mutational event in Machado-Joseph disease. Archives of Neurology. 64: 1502-8. PMID 17923634 DOI: 10.1001/Archneur.64.10.1502 |
0.466 |
|
| 2007 |
Gourfinkel-An I, Duyckaerts C, Camuzat A, Meyrignac C, Sonderegger P, Baulac M, Brice A. Clinical and neuropathologic study of a French family with a mutation in the neuroserpin gene. Neurology. 69: 79-83. PMID 17606885 DOI: 10.1212/01.Wnl.0000265052.99144.B5 |
0.454 |
|
| 2007 |
Hanein S, Dürr A, Ribai P, Forlani S, Leutenegger A, Nelson I, Babron M, Elleuch N, Depienne C, Charon C, Brice A, Stevanin G. A novel locus for autosomal dominant “uncomplicated” hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3 Human Genetics. 122: 261-273. PMID 17605047 DOI: 10.1007/S00439-007-0396-1 |
0.427 |
|
| 2007 |
Depienne C, Fedirko E, Faucheux JM, Forlani S, Bricka B, Goizet C, Lesourd S, Stevanin G, Ruberg M, Durr A, Brice A. A de novo SPAST mutation leading to somatic mosaicism is associated with a later age at onset in HSP. Neurogenetics. 8: 231-3. PMID 17597328 DOI: 10.1007/s10048-007-0090-4 |
0.354 |
|
| 2007 |
Lesage S, Leclere L, Lohmann E, Borg M, Ruberg M, Dürr A, Brice A, Agid Y, Bonnet AM, Broussolle E, Damier P, Destée A, Durif F, Martinez M, Penet C, et al. Frequency of the LRRK2 G2019S mutation in siblings with Parkinson's disease Neurodegenerative Diseases. 4: 195-198. PMID 17596714 DOI: 10.1159/000101844 |
0.466 |
|
| 2007 |
Gaillard N, Castelnovo G, Brice A, Labauge P. Une crampe de l’écrivain associée à une ataxie spinocérébelleuse de type 7 Revue Neurologique. 163: 589-591. PMID 17571027 DOI: 10.1016/S0035-3787(07)90465-8 |
0.341 |
|
| 2007 |
Charles P, Camuzat A, Benammar N, Sellal F, Destée A, Bonnet AM, Lesage S, Le Ber I, Stevanin G, Dürr A, Brice A, Agid Y, Borg M, Broussolle E, Damier P, et al. Are interrupted SCA2 CAG repeat expansions responsible for parkinsonism? Neurology. 69: 1970-1975. PMID 17568014 DOI: 10.1212/01.Wnl.0000269323.21969.Db |
0.493 |
|
| 2007 |
Klebe S, Faivre L, Forlani S, Dussert C, Tourbah A, Brice A, Stevanin G, Durr A. Another mutation in cysteine 131 in protein kinase Cγ as a cause of spinocerebellar ataxia type 14 Jama Neurology. 64: 913-914. PMID 17562946 DOI: 10.1001/Archneur.64.6.913 |
0.36 |
|
| 2007 |
Ribaï P, Nguyen K, Hahn-Barma V, Gourfinkel-An I, Vidailhet M, Legout A, Dodé C, Brice A, Dürr A. Psychiatric and cognitive difficulties as indicators of juvenile huntington disease onset in 29 patients. Archives of Neurology. 64: 813-9. PMID 17562929 DOI: 10.1001/Archneur.64.6.813 |
0.382 |
|
| 2007 |
Joch M, Ase AR, Chen CX, MacDonald PA, Kontogiannea M, Corera AT, Brice A, Séguéla P, Fon EA. Parkin-mediated monoubiquitination of the PDZ protein PICK1 regulates the activity of acid-sensing ion channels. Molecular Biology of the Cell. 18: 3105-18. PMID 17553932 DOI: 10.1091/Mbc.E05-11-1027 |
0.345 |
|
| 2007 |
Stevanin G, Paternotte C, Coutinho P, Klebe S, Elleuch N, Loureiro JL, Denis E, Cruz VT, Dürr A, Prud'homme JF, Weissenbach J, Brice A, Hazan J. A new locus for autosomal recessive spastic paraplegia (SPG32) on chromosome 14q12-q21. Neurology. 68: 1837-40. PMID 17515546 DOI: 10.1212/01.Wnl.0000262043.53386.22 |
0.365 |
|
| 2007 |
Klebe S, Durr A, Bouslam N, Grid D, Paternotte C, Depienne C, Hanein S, Bouhouche A, Elleuch N, Azzedine H, Poea-Guyon S, Forlani S, Denis E, Charon C, Hazan J, ... Brice A, et al. Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical description. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 144: 854-61. PMID 17503452 DOI: 10.1002/Ajmg.B.30518 |
0.46 |
|
| 2007 |
Le Ber I, van der Zee J, Hannequin D, Gijselinck I, Campion D, Puel M, Laquerrière A, De Pooter T, Camuzat A, Van den Broeck M, Dubois B, Sellal F, Lacomblez L, Vercelletto M, Thomas-Antérion C, ... ... Brice A, et al. Progranulin null mutations in both sporadic and familial frontotemporal dementia. Human Mutation. 28: 846-55. PMID 17436289 DOI: 10.1002/Humu.20520 |
0.498 |
|
| 2007 |
Ribaï P, Pousset F, Tanguy ML, Rivaud-Pechoux S, Le Ber I, Gasparini F, Charles P, Béraud AS, Schmitt M, Koenig M, Mallet A, Brice A, Dürr A. Neurological, cardiological, and oculomotor progression in 104 patients with Friedreich ataxia during long-term follow-up. Archives of Neurology. 64: 558-64. PMID 17420319 DOI: 10.1001/Archneur.64.4.558 |
0.385 |
|
| 2007 |
Clark LN, Haamer E, Mejia-Santana H, Harris J, Lesage S, Durr A, Bs SJ, Hedrich K, Louis ED, Cote LJ, Andrews H, Fahn S, Waters C, Ford B, Frucht S, ... ... Brice A, et al. Construction and validation of a Parkinson's disease mutation genotyping array for the Parkin gene. Movement Disorders : Official Journal of the Movement Disorder Society. 22: 932-7. PMID 17415800 DOI: 10.1002/Mds.21419 |
0.501 |
|
| 2007 |
Lesage S, Janin S, Lohmann E, Leutenegger AL, Leclere L, Viallet F, Pollak P, Durif F, Thobois S, Layet V, Vidailhet M, Agid Y, Dürr A, Brice A, et al. LRRK2 exon 41 mutations in sporadic Parkinson disease in Europeans. Archives of Neurology. 64: 425-30. PMID 17353388 DOI: 10.1001/Archneur.64.3.425 |
0.474 |
|
| 2007 |
van der Zee J, Le Ber I, Maurer-Stroh S, Engelborghs S, Gijselinck I, Camuzat A, Brouwers N, Vandenberghe R, Sleegers K, Hannequin D, Dermaut B, Schymkowitz J, Campion D, Santens P, Martin JJ, ... ... Brice A, et al. Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia. Human Mutation. 28: 416. PMID 17345602 DOI: 10.1002/Humu.9484 |
0.442 |
|
| 2007 |
Latouche M, Lasbleiz C, Martin E, Monnier V, Debeir T, Mouatt-Prigent A, Muriel MP, Morel L, Ruberg M, Brice A, Stevanin G, Tricoire H. A conditional pan-neuronal Drosophila model of spinocerebellar ataxia 7 with a reversible adult phenotype suitable for identifying modifier genes. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 27: 2483-92. PMID 17344386 DOI: 10.1523/Jneurosci.5453-06.2007 |
0.314 |
|
| 2007 |
Guyant-Maréchal L, Rovelet-Lecrux A, Goumidi L, Cousin E, Hannequin D, Raux G, Penet C, Ricard S, Macé S, Amouyel P, Deleuze JF, Frebourg T, Brice A, Lambert JC, Campion D. Variations in the APP gene promoter region and risk of Alzheimer disease. Neurology. 68: 684-7. PMID 17325276 DOI: 10.1212/01.Wnl.0000255938.33739.46 |
0.337 |
|
| 2007 |
Stevanin G, Santorelli FM, Azzedine H, Coutinho P, Chomilier J, Denora PS, Martin E, Ouvrard-Hernandez AM, Tessa A, Bouslam N, Lossos A, Charles P, Loureiro JL, Elleuch N, Confavreux C, ... ... Brice A, et al. Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. Nature Genetics. 39: 366-72. PMID 17322883 DOI: 10.1038/ng1980 |
0.378 |
|
| 2007 |
Namekawa M, Muriel MP, Janer A, Latouche M, Dauphin A, Debeir T, Martin E, Duyckaerts C, Prigent A, Depienne C, Sittler A, Brice A, Ruberg M. Mutations in the SPG3A gene encoding the GTPase atlastin interfere with vesicle trafficking in the ER/Golgi interface and Golgi morphogenesis. Molecular and Cellular Neurosciences. 35: 1-13. PMID 17321752 DOI: 10.1016/J.Mcn.2007.01.012 |
0.398 |
|
| 2007 |
Baba Y, Baker MC, Le Ber I, Brice A, Maeck L, Kohlhase J, Yasuda M, Stoppe G, Bugiani O, Sperfeld AD, Tsuboi Y, Uitti RJ, Farrer MJ, Ghetti B, Hutton ML, et al. Clinical and genetic features of families with frontotemporal dementia and parkinsonism linked to chromosome 17 with a P301S tau mutation. Journal of Neural Transmission (Vienna, Austria : 1996). 114: 947-50. PMID 17318302 DOI: 10.1007/S00702-007-0632-9 |
0.45 |
|
| 2007 |
Bouslam N, Bouhouche A, Benomar A, Hanein S, Klebe S, Azzedine H, Giandomenico SD, Boland-Augé A, Santorelli FM, Durr A, Brice A, Yahyaoui M, Stevanin G. A novel locus for autosomal recessive spastic ataxia on chromosome 17p Human Genetics. 121: 413-420. PMID 17273843 DOI: 10.1007/S00439-007-0328-0 |
0.468 |
|
| 2007 |
Ber IL, Dubourg O, Benoist JF, Jardel C, Mochel F, Koenig M, Brice A, Lombès A, Dürr A. Muscle coenzyme Q10 deficiencies in ataxia with oculomotor apraxia 1 Neurology. 68: 295-297. PMID 17242337 DOI: 10.1212/01.Wnl.0000252366.10731.43 |
0.399 |
|
| 2007 |
Grünewald A, Breedveld GJ, Lohmann-Hedrich K, Rohé CF, König IR, Hagenah J, Vanacore N, Meco G, Antonini A, Goldwurm S, Lesage S, Dürr A, Binkofski F, Siebner H, Münchau A, ... Brice A, et al. Biological effects of the PINK1 c.1366C>T mutation: implications in Parkinson disease pathogenesis. Neurogenetics. 8: 103-9. PMID 17219214 DOI: 10.1007/S10048-006-0072-Y |
0.301 |
|
| 2007 |
Klebe S, Lacour A, Durr A, Stojkovic T, Depienne C, Forlani S, Poea-Guyon S, Vuillaume I, Sablonniere B, Vermersch P, Brice A, Stevanin G. NIPA1 (SPG6) mutations are a rare cause of autosomal dominant spastic paraplegia in Europe Neurogenetics. 8: 155-157. PMID 17205300 DOI: 10.1007/S10048-006-0074-9 |
0.421 |
|
| 2007 |
Depienne C, Fedirko E, Forlani S, Cazeneuve C, Ribaï P, Feki I, Tallaksen C, Nguyen K, Stankoff B, Ruberg M, Stevanin G, Durr A, Brice A. Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia. Journal of Medical Genetics. 44: 281-4. PMID 17098887 DOI: 10.1136/Jmg.2006.046425 |
0.336 |
|
| 2007 |
Huynh DP, Nguyen DT, Pulst-Korenberg JB, Brice A, Pulst SM. Parkin is an E3 ubiquitin-ligase for normal and mutant ataxin-2 and prevents ataxin-2-induced cell death. Experimental Neurology. 203: 531-41. PMID 17097639 DOI: 10.1016/J.Expneurol.2006.09.009 |
0.324 |
|
| 2007 |
Schüpbach M, Lohmann E, Anheim M, Lesage S, Czernecki V, Yaici S, Worbe Y, Charles P, Welter ML, Pollak P, Dürr A, Agid Y, Brice A. Subthalamic nucleus stimulation is efficacious in patients with Parkinsonism and LRRK2 mutations. Movement Disorders : Official Journal of the Movement Disorder Society. 22: 119-22. PMID 17080443 DOI: 10.1002/Mds.21178 |
0.416 |
|
| 2007 |
Lesage S, Magali P, Lohmann E, Lacomblez L, Teive H, Janin S, Cousin PY, Dürr A, Brice A, Agid Y, Bonnet AM, Borg M, Broussolle E, Damier P, Destée A, et al. Deletion of the parkin and PACRG gene promoter in early-onset parkinsonism Human Mutation. 28: 27-32. PMID 17068781 DOI: 10.1002/Humu.20436 |
0.464 |
|
| 2007 |
Lesage S, Dürr A, Brice A. LRRK2: a link between familial and sporadic Parkinson's disease? Pathologie Biologie. 55: 107-110. PMID 16884863 DOI: 10.1016/J.Patbio.2006.06.001 |
0.395 |
|
| 2007 |
Costa CAd, Giaime E, Corti O, Brice A, West A, Shen J, Goldberg M, Checler F. 2.109 A novel function of parkin as a transcriptional repressor of the oncogene p53 and its impairment by familial associated Parkinson's disease mutations Parkinsonism & Related Disorders. 13. DOI: 10.1016/S1353-8020(08)70601-1 |
0.449 |
|
| 2007 |
Riccioppo G, Tumas V, Marques W, Bader B, Danek A, Cazeneuve C, Brice A, Walker R. 1.309 Clinical and molecular studies of patients screened for Huntington's disease in a movement disorders clinic from Brazil Parkinsonism & Related Disorders. 13: S79. DOI: 10.1016/S1353-8020(08)70544-3 |
0.314 |
|
| 2007 |
Le Ber I, Camuzat A, Hannequin D, Pasquier F, van der Zee J, Campion D, Puel M, Laquerrière A, Sellal F, Lacomblez L, Vercelletto M, Thomas-Antérion C, Michel B, Golfier V, Didic M, ... ... Brice A, ... ... Brice A, et al. Mutations du gène de la progranuline dans les démences frontotemporales : fréquence, spectre mutationnel et phénotypes associés Revue Neurologique. 163: 207-208. DOI: 10.1016/S0035-3787(07)90896-6 |
0.324 |
|
| 2007 |
Klebe S, Lacour A, Durr A, Stojkovic T, Depienne C, Forlani S, Poca-Guyon S, Vuillaume I, Sablonniere B, Vermersch P, Brice A, Stevanin G. M - 10 Mutations du gène NIPA1 (SPG6) : une cause rare de paraparésie spastique héréditaire en Europe Revue Neurologique. 163: 114. DOI: 10.1016/S0035-3787(07)90706-7 |
0.353 |
|
| 2007 |
Corti O, Brice A. Of Parkin and Parkinson's: light and dark sides of a multifaceted E3 ubiquitin–protein ligase Drug Discovery Today: Disease Mechanisms. 4: 121-127. DOI: 10.1016/J.Ddmec.2007.11.002 |
0.435 |
|
| 2006 |
Ber IL, Clot F, Vercueil L, Camuzat A, Viémont M, Benamar N, Liège PD, Ouvrard-Hernandez AM, Pollak P, Stevanin G, Brice A, Dürr A. Predominant dystonia with marked cerebellar atrophy A rare phenotype in familial dystonia Neurology. 67: 1769-1773. PMID 17130408 DOI: 10.1212/01.Wnl.0000244484.60489.50 |
0.461 |
|
| 2006 |
Le Ber I, Guedj E, Gabelle A, Verpillat P, Volteau M, Thomas-Anterion C, Decousus M, Hannequin D, Véra P, Lacomblez L, Camuzat A, Didic M, Puel M, Lotterie JA, Golfier V, ... ... Brice A, et al. Demographic, neurological and behavioural characteristics and brain perfusion SPECT in frontal variant of frontotemporal dementia Brain. 129: 3051-3065. PMID 17071924 DOI: 10.1093/Brain/Awl288 |
0.32 |
|
| 2006 |
Brice A. [What can we learn from genes responsible for familial forms of Parkinson's disease?]. Bulletin De L'AcadéMie Nationale De MéDecine. 190: 485-96; discussion 4. PMID 17001874 |
0.322 |
|
| 2006 |
Leutenegger AL, Salih MA, Ibáñez P, Mukhtar MM, Lesage S, Arabi A, Lohmann E, Dürr A, Ahmed AE, Brice A. Juvenile-onset Parkinsonism as a result of the first mutation in the adenosine triphosphate orientation domain of PINK1. Archives of Neurology. 63: 1257-61. PMID 16966503 DOI: 10.1001/Archneur.63.9.1257 |
0.336 |
|
| 2006 |
Ishihara L, Warren L, Gibson R, Amouri R, Lesage S, Dürr A, Tazir M, Wszolek ZK, Uitti RJ, Nichols WC, Griffith A, Hattori N, Leppert D, Watts R, Zabetian CP, ... ... Brice A, et al. Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutations. Archives of Neurology. 63: 1250-4. PMID 16966502 DOI: 10.1001/Archneur.63.9.1250 |
0.369 |
|
| 2006 |
Pineda-Trujillo N, Apergi M, Moreno S, Arias W, Lesage S, Franco A, Sepulveda-Falla D, Cano D, Buriticá O, Pineda D, Uribe CS, de Yebenes JG, Lees AJ, Brice A, Bedoya G, et al. A genetic cluster of early onset Parkinson's disease in a Colombian population. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 141: 885-9. PMID 16941654 DOI: 10.1002/Ajmg.B.30375 |
0.449 |
|
| 2006 |
Azzedine H, Ravise N, Verny C, Gabreëls-Festen AAWM, Lammens MMY, Grid D, Vallat JM, Durosier G, Senderek J, Nouioua S, Hamadouche T, Bouhouche A, Guilbot A, Stendel C, Ruberg M, ... Brice A, et al. Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations Neurology. 67: 602-606. PMID 16924012 DOI: 10.1212/01.Wnl.0000230225.19797.93 |
0.498 |
|
| 2006 |
Soufir N, Gerard B, Portela M, Brice A, Liboutet M, Saiag P, Descamps V, Kerob D, Wolkenstein P, Gorin I, Lebbe C, Dupin N, Crickx B, Basset-Seguin N, Grandchamp B. PTCH mutations and deletions in patients with typical nevoid basal cell carcinoma syndrome and in patients with a suspected genetic predisposition to basal cell carcinoma: a French study. British Journal of Cancer. 95: 548-53. PMID 16909134 DOI: 10.1038/Sj.Bjc.6603303 |
0.462 |
|
| 2006 |
Fallon L, Bélanger CM, Corera AT, Kontogiannea M, Regan-Klapisz E, Moreau F, Voortman J, Haber M, Rouleau G, Thorarinsdottir T, Brice A, van Bergen En Henegouwen PM, Fon EA. A regulated interaction with the UIM protein Eps15 implicates parkin in EGF receptor trafficking and PI(3)K-Akt signalling. Nature Cell Biology. 8: 834-42. PMID 16862145 DOI: 10.1038/Ncb1441 |
0.333 |
|
| 2006 |
Dubourg O, Azzedine H, Verny C, Durosier G, Birouk N, Gouider R, Salih M, Bouhouche A, Thiam A, Grid D, Mayer M, Ruberg M, Tazir M, Brice A, LeGuern E. Autosomal-recessive forms of demyelinating charcot-marie-tooth disease Neuromolecular Medicine. 8: 75-85. PMID 16775368 DOI: 10.1385/Nmm:8:1-2:75 |
0.439 |
|
| 2006 |
Dubourg O, Azzedine H, Yaou RB, Pouget J, Barois A, Meininger V, Bouteiller D, Ruberg M, Brice A, LeGuern E. The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V. Neurology. 66: 1721-1726. PMID 16769947 DOI: 10.1212/01.Wnl.0000218304.02715.04 |
0.453 |
|
| 2006 |
Hampe C, Ardila-Osorio H, Fournier M, Brice A, Corti O. Biochemical analysis of Parkinson's disease-causing variants of Parkin, an E3 ubiquitin-protein ligase with monoubiquitylation capacity. Human Molecular Genetics. 15: 2059-75. PMID 16714300 DOI: 10.1093/Hmg/Ddl131 |
0.414 |
|
| 2006 |
Stevanin G, Montagna G, Azzedine H, Valente EM, Durr A, Scarano V, Bouslam N, Cassandrini D, Denora PS, Criscuolo C, Belarbi S, Orlacchio A, Jonveaux P, Silvestri G, Hernandez AM, ... ... Brice A, et al. Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity. Neurogenetics. 7: 149-56. PMID 16699786 DOI: 10.1007/S10048-006-0044-2 |
0.455 |
|
| 2006 |
Lossos A, Stevanin G, Meiner V, Argov Z, Bouslam N, Newman JP, Gomori JM, Klebe S, Lerer I, Elleuch N, Silverstein S, Durr A, Abramsky O, Ben-Nariah Z, Brice A. Hereditary spastic paraplegia with thin corpus callosum: reduction of the SPG11 interval and evidence for further genetic heterogeneity. Archives of Neurology. 63: 756-60. PMID 16682547 DOI: 10.1001/Archneur.63.5.756 |
0.412 |
|
| 2006 |
Unschuld PG, Dächsel J, Darios F, Kohlmann A, Casademunt E, Lehmann-Horn K, Dichgans M, Ruberg M, Brice A, Gasser T, Lücking CB. Parkin Modulates Gene Expression in Control and Ceramide-Treated PC12 Cells Molecular Biology Reports. 33: 13-32. PMID 16636914 DOI: 10.1007/S11033-005-3961-5 |
0.325 |
|
| 2006 |
Namekawa M, Nelson I, Ribai P, Dürr A, Denis E, Stevanin G, Ruberg M, Brice A. A founder effect and mutational hot spots may contribute to the most frequent mutations in the SPG3A gene. Neurogenetics. 7: 131-132. PMID 16612642 DOI: 10.1007/S10048-006-0028-2 |
0.424 |
|
| 2006 |
Elleuch N, Depienne C, Benomar A, Hernandez AM, Ferrer X, Fontaine B, Grid D, Tallaksen CM, Zemmouri R, Stevanin G, Durr A, Brice A. Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia. Neurology. 66: 654-9. PMID 16534102 DOI: 10.1212/01.Wnl.0000201185.91110.15 |
0.494 |
|
| 2006 |
Rosa AD, Volpe G, Marcantonio L, Santoro L, Brice A, Filla A, Perretti A, Michele GD. Neurophysiological evidence of corticospinal tract abnormality in patients with Parkin mutations Journal of Neurology. 253: 275-279. PMID 16502212 DOI: 10.1007/S00415-006-0096-0 |
0.453 |
|
| 2006 |
Waters MF, Minassian NA, Stevanin G, Figueroa KP, Bannister JP, Nolte D, Mock AF, Evidente VG, Fee DB, Müller U, Dürr A, Brice A, Papazian DM, Pulst SM. Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes. Nature Genetics. 38: 447-51. PMID 16501573 DOI: 10.1038/Ng1758 |
0.347 |
|
| 2006 |
Lesage S, Dürr A, Tazir M, Lohmann E, Leutenegger AL, Janin S, Pollak P, Brice A. LRRK2 G2019S as a cause of Parkinson's disease in North African Arabs [13] New England Journal of Medicine. 354: 422-423. PMID 16436781 DOI: 10.1056/Nejmc055540 |
0.348 |
|
| 2006 |
Klebe S, Azzedine H, Durr A, Bastien P, Bouslam N, Elleuch N, Forlani S, Charon C, Koenig M, Melki J, Brice A, Stevanin G. Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3. Brain : a Journal of Neurology. 129: 1456-62. PMID 16434418 DOI: 10.1093/Brain/Awl012 |
0.659 |
|
| 2006 |
Ikeda Y, Dick KA, Weatherspoon MR, Gincel D, Armbrust KR, Dalton JC, Stevanin G, Dürr A, Zühlke C, Bürk K, Clark HB, Brice A, Rothstein JD, Schut LJ, Day JW, et al. Spectrin mutations cause spinocerebellar ataxia type 5. Nature Genetics. 38: 184-90. PMID 16429157 DOI: 10.1038/Ng1728 |
0.382 |
|
| 2006 |
Namekawa M, Ribai P, Nelson I, Forlani S, Fellmann F, Goizet C, Depienne C, Stevanin G, Ruberg M, Dürr A, Brice A. SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years Neurology. 66: 112-114. PMID 16401858 DOI: 10.1212/01.Wnl.0000191390.20564.8E |
0.458 |
|
| 2006 |
Ibáñez P, Lesage S, Lohmann E, Thobois S, De Michele G, Borg M, Agid Y, Dürr A, Brice A. Mutational analysis of the PINK1 gene in early-onset parkinsonism in Europe and North Africa. Brain : a Journal of Neurology. 129: 686-94. PMID 16401616 DOI: 10.1093/Brain/Awl005 |
0.423 |
|
| 2006 |
Rovelet-Lecrux A, Hannequin D, Raux G, Le Meur N, Laquerrière A, Vital A, Dumanchin C, Feuillette S, Brice A, Vercelletto M, Dubas F, Frebourg T, Campion D. APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy. Nature Genetics. 38: 24-6. PMID 16369530 DOI: 10.1038/Ng1718 |
0.334 |
|
| 2006 |
Unschuld PG, Dächsel J, Darios F, Kohlmann A, Casademunt E, Lehmann-Horn K, Dichgans M, Ruberg M, Brice A, Gasser T, Lücking CB. Parkin modulates gene expression in control and ceramide-treated PC12 cells Aktuelle Neurologie. 33: 320. DOI: 10.1055/S-2006-953145 |
0.328 |
|
| 2006 |
Giandomenico SD, Santorelli FM, Criscuolo C, Mariotti C, Simonati A, Greco GS, Brice A, Durr A, Filla A, Stevanin G, Bertini E. Sacs Mutations In Autosomal Recessive Spastic Ataxias Neuropediatrics. 37. DOI: 10.1055/S-2006-945713 |
0.425 |
|
| 2006 |
Rademakers R, Sleegers K, Pals P, Nuytemans K, Lohmann E, Durr A, Engelborghs S, Pooter Td, Broeck MVd, Pickut B, Cruts M, Deyn PD, Farrer M, Brice A, Broeckhoven CV. P3-159: MAPT H1 subhaplotyping in european PD association samples implicates tau splicing in early-onset parkinson’s disease susceptibility Alzheimers & Dementia. 2. DOI: 10.1016/J.Jalz.2006.05.1427 |
0.326 |
|
| 2005 |
Sharma M, Mueller JC, Zimprich A, Lichtner P, Hofer A, Leitner P, Maass S, Berg D, Dürr A, Bonifati V, Michele GD, Oostra B, Brice A, Wood NW, Muller-Myhsok B, et al. The sepiapterin reductase gene region reveals association in the PARK3 locus: analysis of familial and sporadic Parkinson’s disease in European populations Journal of Medical Genetics. 43: 557-562. PMID 16443856 DOI: 10.1136/Jmg.2005.039149 |
0.414 |
|
| 2005 |
Lesage S, Leutenegger AL, Brice A. LRRK2: A gene belonging to the ROCO family is implicated in the Parkinson's disease Medecine/Sciences. 21: 1015-1017. PMID 16324633 DOI: 10.1051/Medsci/200521121015 |
0.309 |
|
| 2005 |
Brice A. Genetics of Parkinson's disease: LRRK2 on the rise. Brain. 128: 2760-2762. PMID 16311269 DOI: 10.1093/Brain/Awh676 |
0.359 |
|
| 2005 |
Lesage S, Ibanez P, Lohmann E, Pollak P, Tison F, Tazir M, Leutenegger AL, Guimaraes J, Bonnet AM, Agid Y, Dürr A, Brice A. G2019S LRRK2 mutation in French and North African families with Parkinson's disease. Annals of Neurology. 58: 784-7. PMID 16240353 DOI: 10.1002/Ana.20636 |
0.453 |
|
| 2005 |
Montcel STD, Clot F, Vidailhet M, Roze E, Damier P, Jedynak CP, Camuzat A, Lagueny A, Vercueil L, Doummar D, Guyant-Marechal L, Houeto JL, Ponsot G, Thobois S, Cournelle MA, ... ... Brice A, et al. Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes Journal of Medical Genetics. 43: 394-400. PMID 16227522 DOI: 10.1136/Jmg.2005.036780 |
0.431 |
|
| 2005 |
Klebe S, Durr A, Rentschler A, Hahn-Barma V, Abele M, Bouslam N, Schöls L, Jedynak P, Forlani S, Denis E, Dussert C, Agid Y, Bauer P, Globas C, Wüllner U, ... Brice A, et al. New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14. Annals of Neurology. 58: 720-9. PMID 16193476 DOI: 10.1002/Ana.20628 |
0.504 |
|
| 2005 |
Lesage S, Leutenegger AL, Ibanez P, Janin S, Lohmann E, Dürr A, Brice A. LRRK2 haplotype analyses in European and North African families with Parkinson disease: A common founder for the G2019S mutation dating from the 13th century [2] American Journal of Human Genetics. 77: 330-332. PMID 16145815 DOI: 10.1086/432422 |
0.453 |
|
| 2005 |
Ber IL, Brice A, Dürr A. New autosomal recessive cerebellar ataxias with oculomotor apraxia. Current Neurology and Neuroscience Reports. 5: 411-417. PMID 16131425 DOI: 10.1007/S11910-005-0066-4 |
0.414 |
|
| 2005 |
Raux G, Guyant-Maréchal L, Martin C, Bou J, Penet C, Brice A, Hannequin D, Frebourg T, Campion D. Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: An update Journal of Medical Genetics. 42: 793-795. PMID 16033913 DOI: 10.1136/Jmg.2005.033456 |
0.441 |
|
| 2005 |
Naïmi M, Tardieu S, Depienne C, Ruberg M, Brice A, Dubourg O, LeGuern E. Detection of genomic rearrangements by DHPLC: a prospective study of 90 patients with inherited peripheral neuropathies associated with 17p11.2 rearrangements. American Journal of Medical Genetics Part A. 136: 136-139. PMID 15940694 DOI: 10.1002/Ajmg.A.30790 |
0.369 |
|
| 2005 |
Martinez M, Brice A, Vaughan JR, Zimprich A, Breteler MM, Meco G, Filla A, Farrer MJ, Bétard C, Singleton A, Hardy J, De Michele G, Bonifati V, Oostra BA, Gasser T, et al. Apolipoprotein E4 is probably responsible for the chromosome 19 linkage peak for Parkinson's disease. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 136: 72-4. PMID 15924299 DOI: 10.1002/Ajmg.B.30196 |
0.339 |
|
| 2005 |
Stevanin G, Broussolle E, Streichenberger N, Kopp N, Brice A, Durr A. Spinocerebellar ataxia with sensory neuropathy (SCA25). The Cerebellum. 4: 58-61. PMID 15895562 DOI: 10.1080/14734220510007932 |
0.359 |
|
| 2005 |
Stevanin G, Durr A, Benammar N, Brice A. Spinocerebellar ataxia with mental retardation (SCA13). The Cerebellum. 4: 43-46. PMID 15895558 DOI: 10.1080/14734220510007923 |
0.35 |
|
| 2005 |
Baba Y, Tsuboi Y, Baker MC, Uitti RJ, Hutton ML, Dickson DW, Farrer M, Putzke JD, Woodruff BK, Ghetti B, Murrell JR, Boeve BF, Petersen RC, Verpillat P, Brice A, et al. The effect of tau genotype on clinical features in FTDP-17. Parkinsonism & Related Disorders. 11: 205-8. PMID 15878580 DOI: 10.1016/J.Parkreldis.2005.01.003 |
0.37 |
|
| 2005 |
Colin E, Régulier E, Perrin V, Dürr A, Brice A, Aebischer P, Déglon N, Humbert S, Saudou F. Akt is altered in an animal model of Huntington's disease and in patients. The European Journal of Neuroscience. 21: 1478-88. PMID 15845076 DOI: 10.1111/J.1460-9568.2005.03985.X |
0.351 |
|
| 2005 |
Ochsner F, Ber IL, Said G, Moreira M-, Michel P, Koenig M, Dürr A, Brice A, Kuntzer T. Amyotrophie de type Charcot-Marie-Tooth associée à une ataxie cérébelleuse autosomique récessive révélatrice d’une mutation du gène de l’aprataxine Revue Neurologique. 161: 331-336. PMID 15800456 DOI: 10.1016/S0035-3787(05)85041-6 |
0.302 |
|
| 2005 |
Bouslam N, Benomar A, Azzedine H, Bouhouche A, Namekawa M, Klebe S, Charon C, Durr A, Ruberg M, Brice A, Yahyaoui M, Stevanin G. Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28). Annals of Neurology. 57: 567-571. PMID 15786464 DOI: 10.1002/Ana.20416 |
0.451 |
|
| 2005 |
Corti O, Hampe C, Darios F, Ibanez P, Ruberg M, Brice A. Parkinson's disease: from causes to mechanisms. Comptes Rendus Biologies. 328: 131-142. PMID 15770999 DOI: 10.1016/J.Crvi.2004.10.009 |
0.379 |
|
| 2005 |
van de Warrenburg BP, Hendriks H, Dürr A, van Zuijlen MC, Stevanin G, Camuzat A, Sinke RJ, Brice A, Kremer BP. Age at onset variance analysis in spinocerebellar ataxias: a study in a Dutch-French cohort. Annals of Neurology. 57: 505-12. PMID 15747371 DOI: 10.1002/Ana.20424 |
0.33 |
|
| 2005 |
Macé S, Cousin E, Ricard S, Génin E, Spanakis E, Lafargue-Soubigou C, Génin B, Fournel R, Roche S, Haussy G, Massey F, Soubigou S, Bréfort G, Benoit P, Brice A, et al. ABCA2 is a strong genetic risk factor for early-onset Alzheimer's disease Neurobiology of Disease. 18: 119-125. PMID 15649702 DOI: 10.1016/J.Nbd.2004.09.011 |
0.301 |
|
| 2005 |
Prestel J, Sharma M, Leitner P, Zimprich A, Vaughan JR, Dürr A, Bonifati V, De Michele G, Hanagasi HA, Farrer M, Hofer A, Asmus F, Volpe G, Meco G, Brice A, et al. PARK11 is not linked with Parkinson's disease in European families. European Journal of Human Genetics : Ejhg. 13: 193-7. PMID 15523496 DOI: 10.1038/Sj.Ejhg.5201317 |
0.4 |
|
| 2005 |
Lesage S, Ibanez P, Lohmann E, Agid Y, Dürr A, Brice A. The G2019SLRRK2 Mutation in Autosomal Dominant European and North African Parkinson’s Disease is Frequent and its Penetrance is Age-Dependant LBS.003 Neurology. 64: 1826-1826. DOI: 10.1212/Wnl.64.10.1826-B |
0.321 |
|
| 2004 |
Varrone A, Pellecchia MT, Amboni M, Sansone V, Salvatore E, Ghezzi D, Garavaglia B, Brice A, Brunetti A, Bonavita V, De Michele G, Salvatore M, Pappatà S, Barone P. Imaging of dopaminergic dysfunction with [123I]FP-CIT SPECT in early-onset parkin disease. Neurology. 63: 2097-103. PMID 15596756 DOI: 10.1212/01.Wnl.0000145765.19094.94 |
0.443 |
|
| 2004 |
Dürr A, Camuzat A, Colin E, Tallaksen C, Hannequin D, Coutinho P, Fontaine B, Rossi A, Gil R, Rousselle C, Ruberg M, Stevanin G, Brice A. Atlastin1 Mutations Are Frequent in Young-Onset Autosomal Dominant Spastic Paraplegia Jama Neurology. 61: 1867-1872. PMID 15596607 DOI: 10.1001/Archneur.61.12.1867 |
0.495 |
|
| 2004 |
Martinez M, Brice A, Vaughan JR, Zimprich A, Breteler MM, Meco G, Filla A, Farrer MJ, Bétard C, Hardy J, De Michele G, Bonifati V, Oostra B, Gasser T, Wood NW, et al. Genome-wide scan linkage analysis for Parkinson's disease: the European genetic study of Parkinson's disease. Journal of Medical Genetics. 41: 900-7. PMID 15591275 DOI: 10.1136/Jmg.2004.022632 |
0.343 |
|
| 2004 |
Abel A, Fonknechten N, Hofer A, Dürr A, Cruaud C, Voit T, Weissenbach J, Brice A, Klimpe S, Auburger G, Hazan J. Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A. Neurogenetics. 5: 239-43. PMID 15517445 DOI: 10.1007/S10048-004-0191-2 |
0.479 |
|
| 2004 |
Ibáñez P, Bonnet AM, Débarges B, Lohmann E, Tison F, Pollak P, Agid Y, Dürr A, Brice A. Causal relation between alpha-synuclein gene duplication and familial Parkinson's disease. Lancet. 364: 1169-71. PMID 15451225 DOI: 10.1016/S0140-6736(04)17104-3 |
0.448 |
|
| 2004 |
Stevanin G, Durr A, Dussert C, Penet C, Brice A. Mutations in the FGF14 gene are not a major cause of spinocerebellar ataxia in Caucasians. Neurology. 63: 936-936. PMID 15365159 DOI: 10.1212/01.Wnl.0000137020.30604.1E |
0.472 |
|
| 2004 |
Stevanin G, Hahn V, Lohmann E, Bouslam N, Gouttard M, Soumphonphakdy C, Welter M, Ollagnon-Roman E, Lemainque A, Ruberg M, Brice A, Durr A. Mutation in the Catalytic Domain of Protein Kinase C γ and Extension of the Phenotype Associated With Spinocerebellar Ataxia Type 14 Jama Neurology. 61: 1242-1248. PMID 15313841 DOI: 10.1001/Archneur.61.8.1242 |
0.502 |
|
| 2004 |
Ibáñez P, Lohmann E, Pollak P, Durif F, Tranchant C, Agid Y, Dürr A, Brice A. Absence of NR4A2 exon 1 mutations in 108 families with autosomal dominant Parkinson disease. Neurology. 62: 2133-4. PMID 15184637 DOI: 10.1212/01.Wnl.0000127496.23198.75 |
0.494 |
|
| 2004 |
Seilhean D, Takahashi J, El Hachimi KH, Fujigasaki H, Lebre AS, Biancalana V, Dürr A, Salachas F, Hogenhuis J, de Thé H, Hauw JJ, Meininger V, Brice A, Duyckaerts C. Amyotrophic lateral sclerosis with neuronal intranuclear protein inclusions. Acta Neuropathologica. 108: 81-7. PMID 15114487 DOI: 10.1007/S00401-004-0855-X |
0.301 |
|
| 2004 |
Gourfinkel-An I, Baulac S, Nabbout R, Ruberg M, Baulac M, Brice A, LeGuern E. Monogenic idiopathic epilepsies. Lancet Neurology. 3: 209-218. PMID 15039033 DOI: 10.1016/S1474-4422(04)00706-9 |
0.366 |
|
| 2004 |
Le Ber I, Bouslam N, Rivaud-Péchoux S, Guimarães J, Benomar A, Chamayou C, Goizet C, Moreira MC, Klur S, Yahyaoui M, Agid Y, Koenig M, Stevanin G, Brice A, Dürr A. Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients. Brain : a Journal of Neurology. 127: 759-67. PMID 14736755 DOI: 10.1093/Brain/Awh080 |
0.422 |
|
| 2004 |
Stevanin G, Bouslam N, Thobois S, Azzedine H, Ravaux L, Boland A, Schalling M, Broussolle E, Dürr A, Brice A. Spinocerebellar ataxia with sensory neuropathy (SCA25) maps to chromosome 2p. Annals of Neurology. 55: 97-104. PMID 14705117 DOI: 10.1002/Ana.10798 |
0.487 |
|
| 2003 |
Gu WJ, Corti O, Araujo F, Hampe C, Jacquier S, Lücking CB, Abbas N, Duyckaerts C, Rooney T, Pradier L, Ruberg M, Brice A. The C289G and C418R missense mutations cause rapid sequestration of human Parkin into insoluble aggregates. Neurobiology of Disease. 14: 357-64. PMID 14678753 DOI: 10.1016/J.Nbd.2003.08.011 |
0.427 |
|
| 2003 |
Cousin E, Hannequin D, Macé S, Dubois B, Ricard S, Génin E, Brun C, Chansac C, Pradier L, Frebourg T, Brice A, Campion D, Deleuze JF. No replication of the association between the Nicastrin gene and familial early-onset Alzheimer's disease Neuroscience Letters. 353: 153-155. PMID 14664923 DOI: 10.1016/S0304-3940(03)01105-4 |
0.351 |
|
| 2003 |
Nabbout R, Kozlovski A, Gennaro E, Bahi-Buisson N, Zara F, Chiron C, Bianchi A, Brice A, Leguern E, Dulac O. Absence of mutations in major GEFS+ genes in myoclonic astatic epilepsy. Epilepsy Research. 56: 127-133. PMID 14642997 DOI: 10.1016/J.Eplepsyres.2003.08.007 |
0.369 |
|
| 2003 |
Ibáñez P, De Michele G, Bonifati V, Lohmann E, Thobois S, Pollak P, Agid Y, Heutink P, Dürr A, Brice A. Screening for DJ-1 mutations in early onset autosomal recessive parkinsonism. Neurology. 61: 1429-31. PMID 14638971 DOI: 10.1212/01.Wnl.0000094121.48373.Fd |
0.49 |
|
| 2003 |
Bonifati V, Rizzu P, Squitieri F, Krieger E, Vanacore N, Swieten JCv, Brice A, Duijn CMv, Oostra B, Meco G, Heutink P. DJ-1( PARK7), a novel gene for autosomal recessive, early onset parkinsonism. Neurological Sciences. 24: 159-160. PMID 14598065 DOI: 10.1007/S10072-003-0108-0 |
0.481 |
|
| 2003 |
Sibbing D, Asmus F, König IR, Tezenas du Montcel S, Vidailhet M, Sangla S, Oertel WH, Brice A, Ziegler A, Gasser T, Bandmann O. Candidate gene studies in focal dystonia. Neurology. 61: 1097-101. PMID 14581671 DOI: 10.1212/01.Wnl.0000090560.20641.Ab |
0.386 |
|
| 2003 |
Lebre A-, Brice A. Spinocerebellar ataxia 7 (SCA7). Cytogenetic and Genome Research. 100: 154-163. PMID 14526176 DOI: 10.1159/000072850 |
0.384 |
|
| 2003 |
Le Ber I, Moreira MC, Rivaud-Péchoux S, Chamayou C, Ochsner F, Kuntzer T, Tardieu M, Saïd G, Habert MO, Demarquay G, Tannier C, Beis JM, Brice A, Koenig M, Dürr A. Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies. Brain : a Journal of Neurology. 126: 2761-72. PMID 14506070 DOI: 10.1093/Brain/Awg283 |
0.478 |
|
| 2003 |
Lücking CB, Chesneau V, Lohmann E, Verpillat P, Dulac C, Bonnet AM, Gasparini F, Agid Y, Dürr A, Brice A. Coding polymorphisms in the parkin gene and susceptibility to Parkinson disease. Archives of Neurology. 60: 1253-6. PMID 12975291 DOI: 10.1001/Archneur.60.9.1253 |
0.379 |
|
| 2003 |
Gourfinkel-An I, Parain K, Hartmann A, Mangiarini L, Brice A, Bates G, Hirsch EC. Changes in GAD67 mRNA expression evidenced by in situ hybridization in the brain of R6/2 transgenic mice. Journal of Neurochemistry. 86: 1369-1378. PMID 12950446 DOI: 10.1046/J.1471-4159.2003.01916.X |
0.304 |
|
| 2003 |
Tallaksen CME, Guichart-Gomez E, Verpillat P, Hahn-Barma V, Ruberg M, Fontaine B, Brice A, Dubois B, Dürr A. Subtle cognitive impairment but no dementia in patients with spastin mutations. Jama Neurology. 60: 1113-1118. PMID 12925368 DOI: 10.1001/Archneur.60.8.1113 |
0.389 |
|
| 2003 |
Ber IL, Camuzat A, Castelnovo G, Azulay J, Genton P, Gastaut J, Broglin D, Labauge P, Brice A, Dürr A. Prevalence of dentatorubral-pallidoluysian atrophy in a large series of white patients with cerebellar ataxia. Jama Neurology. 60: 1097-1099. PMID 12925365 DOI: 10.1001/Archneur.60.8.1097 |
0.431 |
|
| 2003 |
Lohmann E, Periquet M, Bonifati V, Wood NW, De Michele G, Bonnet AM, Fraix V, Broussolle E, Horstink MW, Vidailhet M, Verpillat P, Gasser T, Nicholl D, Teive H, Raskin S, ... ... Brice A, et al. How much phenotypic variation can be attributed to parkin genotype? Annals of Neurology. 54: 176-85. PMID 12891670 DOI: 10.1002/Ana.10613 |
0.471 |
|
| 2003 |
Illarioshkin SN, Periquet M, Rawal N, Lücking CB, Zagorovskaya TB, Slominsky PA, Miloserdova OV, Markova ED, Limborska SA, Ivanova-Smolenskaya IA, Brice A. Mutation analysis of the parkin gene in Russian families with autosomal recessive juvenile parkinsonism. Movement Disorders : Official Journal of the Movement Disorder Society. 18: 914-9. PMID 12889082 DOI: 10.1002/Mds.10467 |
0.509 |
|
| 2003 |
Corti O, Brice A. « La maladie de Parkinson : que nous apprennent les gènes responsables des formes familiales? » M S-Medecine Sciences. 19: 613-619. PMID 12836396 DOI: 10.1051/Medsci/2003195613 |
0.316 |
|
| 2003 |
Stevanin G, Fujigasaki H, Lebre AS, Camuzat A, Jeannequin C, Dode C, Takahashi J, San C, Bellance R, Brice A, Durr A. Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes. Brain : a Journal of Neurology. 126: 1599-603. PMID 12805114 DOI: 10.1093/brain/awg155 |
0.329 |
|
| 2003 |
Corti O, Hampe C, Koutnikova H, Darios F, Jacquier S, Prigent A, Robinson JC, Pradier L, Ruberg M, Mirande M, Hirsch E, Rooney T, Fournier A, Brice A. The p38 subunit of the aminoacyl-tRNA synthetase complex is a Parkin substrate: linking protein biosynthesis and neurodegeneration. Human Molecular Genetics. 12: 1427-37. PMID 12783850 DOI: 10.1093/Hmg/Ddg159 |
0.4 |
|
| 2003 |
Periquet M, Latouche M, Lohmann E, Rawal N, De Michele G, Ricard S, Teive H, Fraix V, Vidailhet M, Nicholl D, Barone P, Wood NW, Raskin S, Deleuze JF, Agid Y, ... ... Brice A, et al. Parkin mutations are frequent in patients with isolated early-onset parkinsonism. Brain : a Journal of Neurology. 126: 1271-8. PMID 12764050 DOI: 10.1093/Brain/Awg136 |
0.381 |
|
| 2003 |
Thobois S, Ribeiro MJ, Lohmann E, Dürr A, Pollak P, Rascol O, Guillouet S, Chapoy E, Costes N, Agid Y, Remy P, Brice A, Broussolle E. Young-onset Parkinson disease with and without parkin gene mutations: a fluorodopa F 18 positron emission tomography study. Archives of Neurology. 60: 713-8. PMID 12756135 DOI: 10.1001/Archneur.60.5.713 |
0.388 |
|
| 2003 |
Cousin E, Hannequin D, Ricard S, Macé S, Génin E, Chansac C, Brice A, Dubois B, Frebourg T, Mercken L, Benavides J, Pradier L, Campion D, Deleuze JF. A risk for early-onset Alzheimer's disease associated with the APBB1 gene (FE65) intron 13 polymorphism Neuroscience Letters. 342: 5-8. PMID 12727304 DOI: 10.1016/S0304-3940(03)00225-8 |
0.372 |
|
| 2003 |
Rawal N, Periquet M, Lohmann E, Lücking CB, Teive HA, Ambrosio G, Raskin S, Lincoln S, Hattori N, Guimaraes J, Horstink MW, Dos Santos Bele W, Brousolle E, Destée A, Mizuno Y, ... ... Brice A, et al. New parkin mutations and atypical phenotypes in families with autosomal recessive parkinsonism. Neurology. 60: 1378-81. PMID 12707451 DOI: 10.1212/01.Wnl.0000056167.89221.Be |
0.497 |
|
| 2003 |
Birouk N, Azzedine H, Dubourg O, Muriel M, Benomar A, Hamadouche T, Maisonobe T, Ouazzani R, Brice A, Yahyaoui M, Chkili T, Guern EL. Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene. Jama Neurology. 60: 598-604. PMID 12707075 DOI: 10.1001/Archneur.60.4.598 |
0.469 |
|
| 2003 |
Azzedine H, Bolino A, Taïeb T, Birouk N, Di Duca M, Bouhouche A, Benamou S, Mrabet A, Hammadouche T, Chkili T, Gouider R, Ravazzolo R, Brice A, Laporte J, LeGuern E. Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma. American Journal of Human Genetics. 72: 1141-53. PMID 12687498 DOI: 10.1086/375034 |
0.469 |
|
| 2003 |
Ravisé N, Dubourg O, Tardieu S, Aurias F, Mercadiel M, Coullin P, Ruberg M, Catala M, Lesourd S, Brice A, LeGuern E. Rapid detection of 17p11.2 rearrangements by FISH without cell culture (direct FISH, DFISH): a prospective study of 130 patients with inherited peripheral neuropathies. American Journal of Medical Genetics Part A. 118: 43-48. PMID 12605439 DOI: 10.1002/Ajmg.A.10190 |
0.355 |
|
| 2003 |
Darios F, Corti O, Lücking CB, Hampe C, Muriel MP, Abbas N, Gu WJ, Hirsch EC, Rooney T, Ruberg M, Brice A. Parkin prevents mitochondrial swelling and cytochrome c release in mitochondria-dependent cell death. Human Molecular Genetics. 12: 517-26. PMID 12588799 DOI: 10.1093/Hmg/Ddg044 |
0.316 |
|
| 2003 |
Lücking CB, Brice A. Semiquantitative PCR for the detection of exon rearrangements in the Parkin gene. Methods of Molecular Biology. 217: 13-26. PMID 12491917 DOI: 10.1385/1-59259-330-5:13 |
0.449 |
|
| 2003 |
Azzedine H, Ruberg M, Ente D, Gilardeau C, Périé S, Wechsler B, Brice A, LeGuern E, Dubourg O. Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene. Neuromuscular Disorders. 13: 341-346. DOI: 10.1016/S0960-8966(02)00281-X |
0.461 |
|
| 2002 |
Stevanin G, Dürr A, Brice A. Spinocerebellar ataxias caused by polyglutamine expansions. Advances in Experimental Medicine and Biology. 516: 47-77. PMID 12611435 DOI: 10.1007/978-1-4615-0117-6_3 |
0.433 |
|
| 2002 |
Valente EM, Brancati F, Caputo V, Graham EA, Davis MB, Ferraris A, Breteler MM, Gasser T, Bonifati V, Bentivoglio AR, De Michele G, Dürr A, Cortelli P, Filla A, Meco G, ... ... Brice A, et al. PARK6 is a common cause of familial parkinsonism. Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. 23: S117-8. PMID 12548371 DOI: 10.1007/S100720200097 |
0.416 |
|
| 2002 |
Verpillat P, Ricard S, Hannequin D, Dubois B, Bou J, Camuzat A, Pradier L, Frebourg T, Brice A, Clerget-Darpoux F, Deleuze JF, Campion D, Belliard S, Didic M, Golfier V, et al. Is the saitohin gene involved in neurodegenerative diseases? Annals of Neurology. 52: 829-832. PMID 12447938 DOI: 10.1002/Ana.10384 |
0.386 |
|
| 2002 |
Bonifati V, Rizzu P, van Baren MJ, Schaap O, Breedveld GJ, Krieger E, Dekker MC, Squitieri F, Ibanez P, Joosse M, van Dongen JW, Vanacore N, van Swieten JC, Brice A, Meco G, et al. Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science (New York, N.Y.). 299: 256-9. PMID 12446870 DOI: 10.1126/SCIENCE.1077209 |
0.334 |
|
| 2002 |
Nabbout R, Prud'homme JF, Herman A, Feingold J, Brice A, Dulac O, LeGuern E. A locus for simple pure febrile seizures maps to chromosome 6q22-q24. Brain : a Journal of Neurology. 125: 2668-80. PMID 12429594 DOI: 10.1093/Brain/Awf281 |
0.384 |
|
| 2002 |
Rawal N, Periquet M, Dürr A, de Michele G, Bonifati V, Teive HA, Raskin S, Guimaraes J, Agid Y, Brice A. Exclusion of the Nurr1 gene in autosomal recessive Parkinson's disease. Journal of Neurology. 249: 1127-9. PMID 12420720 DOI: 10.1007/S00415-002-0757-6 |
0.403 |
|
| 2002 |
Asmus F, Zimprich A, Tezenas Du Montcel S, Kabus C, Deuschl G, Kupsch A, Ziemann U, Castro M, Kühn AA, Strom TM, Vidailhet M, Bhatia KP, Dürr A, Wood NW, Brice A, et al. Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype. Annals of Neurology. 52: 489-92. PMID 12325078 DOI: 10.1002/Ana.10325 |
0.439 |
|
| 2002 |
Lansbury PT, Brice A. Genetics of Parkinson's disease and biochemical studies of implicated gene products. Current Opinion in Cell Biology. 14: 653-60. PMID 12231362 DOI: 10.1016/S0955-0674(02)00377-0 |
0.406 |
|
| 2002 |
Boussaha M, Hannequin D, Verpillat P, Brice A, Frebourg T, Campion D. Polymorphisms of insulin degrading enzyme gene are not associated with Alzheimer's disease Neuroscience Letters. 329: 121-123. PMID 12161276 DOI: 10.1016/S0304-3940(02)00586-4 |
0.333 |
|
| 2002 |
Borie C, Gasparini F, Verpillat P, Bonnet AM, Agid Y, Hetet G, Brice A, Dürr A, Grandchamp B. Association study between iron-related genes polymorphisms and Parkinson's disease. Journal of Neurology. 249: 801-4. PMID 12140659 DOI: 10.1007/S00415-002-0704-6 |
0.35 |
|
| 2002 |
Corti O, Brice A. [Parkin, alpha-synuclein and other molecular aspects of Parkinson's disease]. Journal De La Societe De Biologie. 196: 95-10. PMID 12134640 |
0.381 |
|
| 2002 |
Aleman TS, Cideciyan AV, Volpe NJ, Stevanin G, Brice A, Jacobson SG. Spinocerebellar ataxia type 7 (SCA7) shows a cone-rod dystrophy phenotype. Experimental Eye Research. 74: 737-745. PMID 12126946 DOI: 10.1006/Exer.2002.1169 |
0.375 |
|
| 2002 |
West A, Periquet M, Lincoln S, Lücking CB, Nicholl D, Bonifati V, Rawal N, Gasser T, Lohmann E, Deleuze JF, Maraganore D, Levey A, Wood N, Dürr A, Hardy J, ... Brice A, et al. Complex relationship between Parkin mutations and Parkinson disease. American Journal of Medical Genetics. 114: 584-91. PMID 12116199 DOI: 10.1002/Ajmg.10525 |
0.47 |
|
| 2002 |
Verpillat P, Camuzat A, Hannequin D, Thomas-Anterion C, Puel M, Belliard S, Dubois B, Didic M, Lacomblez L, Moreaud O, Golfier V, Campion D, Brice A, Clerget-Darpoux F. Apolipoprotein E gene in frontotemporal dementia: An association study and meta-analysis European Journal of Human Genetics. 10: 399-405. PMID 12107813 DOI: 10.1038/Sj.Ejhg.5200820 |
0.36 |
|
| 2002 |
Takahashi J, Fujigasaki H, Zander C, El Hachimi KH, Stevanin G, Dürr A, Lebre AS, Yvert G, Trottier Y, de Thé H, Hauw JJ, Duyckaerts C, Brice A. Two populations of neuronal intranuclear inclusions in SCA7 differ in size and promyelocytic leukaemia protein content. Brain : a Journal of Neurology. 125: 1534-43. PMID 12077003 DOI: 10.1093/Brain/Awf154 |
0.309 |
|
| 2002 |
Lansbury PT, Brice A. Genetics of Parkinson's disease and biochemical studies of implicated gene products. Current Opinion in Genetics & Development. 12: 299-306. PMID 12076673 DOI: 10.1016/S0959-437X(02)00302-7 |
0.406 |
|
| 2002 |
Verpillat P, Camuzat A, Hannequin D, Thomas-Anterion C, Puel M, Belliard S, Dubois B, Didic M, Michel BF, Lacomblez L, Moreaud O, Sellal F, Golfier V, Campion D, Clerget-Darpoux F, ... Brice A, et al. Association between the extended tau haplotype and frontotemporal dementia Archives of Neurology. 59: 935-939. PMID 12056929 DOI: 10.1001/Archneur.59.6.935 |
0.427 |
|
| 2002 |
Labauge P, Amer LO, Simonetta-Moreau M, Attané F, Tannier C, Clanet M, Castelnovo G, An-Gourfinkel I, Agid Y, Brice A, Ducros A, LeGuern E. Absence of linkage to 8q24 in a European family with familial adult myoclonic epilepsy (FAME). Neurology. 58: 941-4. PMID 11914412 DOI: 10.1212/Wnl.58.6.941 |
0.365 |
|
| 2002 |
Caparros-Lefebvre D, Sergeant N, Lees A, Camuzat A, Daniel S, Lannuzel A, Brice A, Tolosa E, Delacourte A, Duyckaerts C. Guadeloupean parkinsonism: a cluster of progressive supranuclear palsy-like tauopathy. Brain : a Journal of Neurology. 125: 801-11. PMID 11912113 DOI: 10.1093/Brain/Awf086 |
0.404 |
|
| 2002 |
Gourfinkel-An I, Vila M, Faucheux B, Duyckaerts C, Viallet F, Hauw JJ, Brice A, Agid Y, Hirsch EC. Metabolic changes in the basal ganglia of patients with Huntington's disease: an in situ hybridization study of cytochrome oxidase subunit I mRNA. Journal of Neurochemistry. 80: 466-76. PMID 11905993 DOI: 10.1046/J.0022-3042.2001.00734.X |
0.314 |
|
| 2002 |
Hansen JJ, Dürr A, Cournu-Rebeix I, Georgopoulos C, Ang D, Nielsen MN, Davoine CS, Brice A, Fontaine B, Gregersen N, Bross P. Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60. American Journal of Human Genetics. 70: 1328-1332. PMID 11898127 DOI: 10.1086/339935 |
0.453 |
|
| 2002 |
Horstink MWIM, Warrenburg BPCvd, Lammens MMY, Brice A. Parkin gene related neuronal multisystem disorder Journal of Neurology, Neurosurgery, and Psychiatry. 72: 419-420. PMID 11861718 DOI: 10.1136/Jnnp.72.3.419 |
0.417 |
|
| 2002 |
Philippe A, Guilloud-Bataille M, Martinez M, Gillberg C, RÃ¥stam M, Sponheim E, Coleman M, Zappella M, Aschauer H, Penet C, Feingold J, Brice A, Leboyer M. Analysis of ten candidate genes in autism by association and linkage. American Journal of Medical Genetics. 114: 125-8. PMID 11857571 DOI: 10.1002/Ajmg.10041 |
0.367 |
|
| 2002 |
Jacquemont ML, Campion D, Hahn V, Tallaksen C, Frebourg T, Brice A, Durr A. Spastic paraparesis and atypical dementia caused by PSEN1 mutation (P264L), responsible for Alzheimer's disease Journal of Medical Genetics. 39: E2. PMID 11836371 DOI: 10.1136/Jmg.39.2.E2 |
0.455 |
|
| 2002 |
Valente EM, Brancati F, Ferraris A, Graham EA, Davis MB, Breteler MM, Gasser T, Bonifati V, Bentivoglio AR, De Michele G, Dürr A, Cortelli P, Wassilowsky D, Harhangi BS, Rawal N, ... ... Brice A, et al. PARK6-linked parkinsonism occurs in several European families. Annals of Neurology. 51: 14-8. PMID 11782979 DOI: 10.1002/Ana.10053 |
0.456 |
|
| 2002 |
Holmes SE, O'Hearn E, Rosenblatt A, Callahan C, Hwang HS, Ingersoll-Ashworth RG, Fleisher A, Stevanin G, Brice A, Potter NT, Ross CA, Margolis RL. Erratum: A CTG trinucleotide repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2 (Nature Genetics (2001) 29 (377-378)) Nature Genetics. 30. DOI: 10.1038/Ng0102-123A |
0.394 |
|
| 2002 |
Illarioshkin SN, Rakhmonov RA, Ivanova-Smolenskaya IA, Brice A, Markova ED, Miklina NI, Klyushnikov SA, Limborska SA. Molecular genetic analysis of essential tremor Russian Journal of Genetics. 38: 1704. DOI: 10.1023/A:1021608426596 |
0.423 |
|
| 2001 |
Zander C, Takahashi J, El Hachimi KH, Fujigasaki H, Albanese V, Lebre AS, Stevanin G, Duyckaerts C, Brice A. Similarities between spinocerebellar ataxia type 7 (SCA7) cell models and human brain: proteins recruited in inclusions and activation of caspase-3. Human Molecular Genetics. 10: 2569-79. PMID 11709544 DOI: 10.1093/Hmg/10.22.2569 |
0.303 |
|
| 2001 |
Holmes SE, O'Hearn E, Rosenblatt A, Callahan C, Hwang HS, Ingersoll-Ashworth RG, Fleisher A, Stevanin G, Brice A, Potter NT, Ross CA, Margolis RL. A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2. Nature Genetics. 29: 377-8. PMID 11694876 DOI: 10.1038/Ng760 |
0.38 |
|
| 2001 |
Dubourg O, Tardieu S, Birouk N, Gouider R, Léger JM, Maisonobe T, Brice A, Bouche P, LeGuern E. Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease. Brain. 124: 1958-1967. PMID 11571214 DOI: 10.1093/Brain/124.10.1958 |
0.4 |
|
| 2001 |
Bonifati V, Lücking C, Fabrizio E, Periquet M, Meco G, Brice A. Three parkin gene mutations in a sibship with autosomal recessive early onset parkinsonism. Journal of Neurology, Neurosurgery, and Psychiatry. 71: 531-534. PMID 11561042 DOI: 10.1136/Jnnp.71.4.531 |
0.484 |
|
| 2001 |
Lücking CB, Bonifati V, Periquet M, Vanacore N, Brice A, Meco G. Pseudo-dominant inheritance and exon 2 triplication in a family with parkin gene mutations. Neurology. 57: 924-927. PMID 11552035 DOI: 10.1212/Wnl.57.5.924 |
0.486 |
|
| 2001 |
Bonifati V, De Michele G, Lücking CB, Dürr A, Fabrizio E, Ambrosio G, Vanacore N, De Mari M, Marconi R, Capus L, Breteler MM, Gasser T, Oostra B, Wood N, Agid Y, ... ... Brice A, et al. The parkin gene and its phenotype. Italian PD Genetics Study Group, French PD Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease. Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. 22: 51-2. PMID 11487197 DOI: 10.1007/S100720170042 |
0.484 |
|
| 2001 |
Tallaksen CMe, Dürr A, Brice A. Recent advances in hereditary spastic paraplegia. Current Opinion in Neurology. 14: 457-463. PMID 11470961 DOI: 10.1097/00019052-200108000-00005 |
0.427 |
|
| 2001 |
Verpillat P, Bouley S, Campion D, Hannequin D, Dubois B, Belliard S, Puel M, Thomas-Antérion C, Agid Y, Brice A, Clerget-Darpoux F. Use of haplotype information to test involvement of the LRP gene in Alzheimer's disease in the French population. European Journal of Human Genetics : Ejhg. 9: 464-8. PMID 11436129 DOI: 10.1038/Sj.Ejhg.5200644 |
0.324 |
|
| 2001 |
Baulac S, Picard F, Herman A, Feingold J, Genin E, Hirsch E, Prud'homme JF, Baulac M, Brice A, LeGuern E. Evidence for digenic inheritance in a family with both febrile convulsions and temporal lobe epilepsy implicating chromosomes 18qter and 1q25-q31. Annals of Neurology. 49: 786-92. PMID 11409431 DOI: 10.1002/Ana.1014 |
0.349 |
|
| 2001 |
Dubourg O, Tardieu S, Birouk N, Gouider R, Léger JM, Maisonobe T, Brice A, Bouche P, LeGuern E. The frequency of 17p11.2 duplication and Connexin 32 mutations in 282 Charcot-Marie-Tooth families in relation to the mode of inheritance and motor nerve conduction velocity Neuromuscular Disorders. 11: 458-463. PMID 11404117 DOI: 10.1016/S0960-8966(00)00222-4 |
0.415 |
|
| 2001 |
Lebre AS, Jamot L, Takahashi J, Spassky N, Leprince C, Ravisé N, Zander C, Fujigasaki H, Kussel-Andermann P, Duyckaerts C, Camonis JH, Brice A. Ataxin-7 interacts with a Cbl-associated protein that it recruits into neuronal intranuclear inclusions. Human Molecular Genetics. 10: 1201-13. PMID 11371513 DOI: 10.1093/Hmg/10.11.1201 |
0.369 |
|
| 2001 |
Vidailhet M, Tassin J, Durif F, Nivelon-Chevallier A, Agid Y, Brice A, Dürr A. A major locus for several phenotypes of myoclonus--dystonia on chromosome 7q. Neurology. 56: 1213-6. PMID 11342690 DOI: 10.1212/Wnl.56.9.1213 |
0.347 |
|
| 2001 |
Baulac S, Huberfeld G, Gourfinkel-An I, Mitropoulou G, Beranger A, Prud'homme JF, Baulac M, Brice A, Bruzzone R, LeGuern E. First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene. Nature Genetics. 28: 46-8. PMID 11326274 DOI: 10.1038/Ng0501-46 |
0.369 |
|
| 2001 |
Zarate-Lagunes M, Gu WJ, Blanchard V, Francois C, Muriel MP, Mouatt-Prigent A, Bonici B, Parent A, Hartmann A, Yelnik J, Boehme GA, Pradier L, Moussaoui S, Faucheux B, Raisman-Vozari R, ... ... Brice A, et al. Parkin immunoreactivity in the brain of human and non-human primates: an immunohistochemical analysis in normal conditions and in Parkinsonian syndromes. The Journal of Comparative Neurology. 432: 184-96. PMID 11241385 DOI: 10.1002/Cne.1096 |
0.362 |
|
| 2001 |
van de Warrenburg BP, Lammens M, Lücking CB, Denèfle P, Wesseling P, Booij J, Praamstra P, Quinn N, Brice A, Horstink MW. Clinical and pathologic abnormalities in a family with parkinsonism and parkin gene mutations. Neurology. 56: 555-7. PMID 11222808 DOI: 10.1212/Wnl.56.4.555 |
0.475 |
|
| 2001 |
Fujigasaki H, Verma IC, Camuzat A, Margolis RL, Zander C, Lebre AS, Jamot L, Saxena R, Anand I, Holmes SE, Ross CA, Dürr A, Brice A. SCA12 is a rare locus for autosomal dominant cerebellar ataxia: a study of an Indian family. Annals of Neurology. 49: 117-21. PMID 11198281 DOI: 10.1002/1531-8249(200101)49:1<117::Aid-Ana19>3.0.Co;2-G |
0.432 |
|
| 2001 |
Periquet M, Lücking C, Vaughan J, Bonifati V, Dürr A, De Michele G, Horstink M, Farrer M, Illarioshkin SN, Pollak P, Borg M, Brefel-Courbon C, Denefle P, Meco G, Gasser T, ... ... Brice A, et al. Origin of the mutations in the parkin gene in Europe: exon rearrangements are independent recurrent events, whereas point mutations may result from Founder effects. American Journal of Human Genetics. 68: 617-26. PMID 11179010 DOI: 10.1086/318791 |
0.487 |
|
| 2001 |
Gaspar C, Lopes-Cendes I, Hayes S, Goto J, Arvidsson K, Dias A, Silveira I, Maciel P, Coutinho P, Lima M, Zhou YX, Soong BW, Watanabe M, Giunti P, Stevanin G, ... ... Brice A, et al. Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study. American Journal of Human Genetics. 68: 523-8. PMID 11133357 DOI: 10.1086/318184 |
0.471 |
|
| 2000 |
Illarioshkin SN, Ivanova-Smolenskaya IA, Markova ED, Zagorovskaya TB, Brice A. Lack of α-synuclein gene mutations in families with autosomal dominant Parkinson's disease in Russia Journal of Neurology. 247: 968-969. PMID 11200692 DOI: 10.1007/S004150070056 |
0.468 |
|
| 2000 |
Raux G, Gantier R, Thomas-Anterion C, Boulliat J, Verpillat P, Hannequin D, Brice A, Frebourg T, Campion D. Dementia with prominent frontotemporal features associated with L113P presenilin 1 mutation Neurology. 55: 1577-1578. PMID 11094121 DOI: 10.1212/Wnl.55.10.1577 |
0.389 |
|
| 2000 |
Dubourg O, Barhoumi C, Azzedine H, Birouk N, Brice A, Bouche P, Leguern E. Phenotypic and genetic study of a family with hereditary sensory neuropathy and prominent weakness. Muscle & Nerve. 23: 1508-1514. PMID 11003785 DOI: 10.1002/1097-4598(200010)23:10<1508::Aid-Mus6>3.0.Co;2-D |
0.344 |
|
| 2000 |
Durr A, Brice A. Clinical and genetic aspects of spinocerebellar degeneration. Current Opinion in Neurology. 13: 407-413. PMID 10970057 DOI: 10.1097/00019052-200008000-00007 |
0.46 |
|
| 2000 |
Raux G, Gantier R, Martin C, Pothin Y, Brice A, Frebourg T, Campion D. A novel presenilin 1 missense mutation (L153V) segregating with early-onset autosomal dominant Alzheimer's disease. Human Mutation. 16: 95. PMID 10874324 DOI: 10.1002/1098-1004(200007)16:1<95::Aid-Humu28>3.0.Co;2-H |
0.452 |
|
| 2000 |
Tassin J, Dürr A, Bonnet AM, Gil R, Vidailhet M, Lücking CB, Goas JY, Durif F, Abada M, Echenne B, Motte J, Lagueny A, Lacomblez L, Jedynak P, Bartholomé B, ... ... Brice A, et al. Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations? Brain : a Journal of Neurology. 123: 1112-21. PMID 10825351 DOI: 10.1093/Brain/123.6.1112 |
0.482 |
|
| 2000 |
Herman-Bert A, Stevanin G, Netter J, Rascol O, Brassat D, Calvas P, Camuzat A, Yuan Q, Schalling M, Dürr A, Brice A. Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardation. American Journal of Human Genetics. 67: 229-235. PMID 10820125 DOI: 10.1086/302958 |
0.365 |
|
| 2000 |
Escayg A, MacDonald BT, Meisler MH, Baulac S, Huberfeld G, An-Gourfinkel I, Brice A, LeGuern E, Moulard B, Chaigne D, Buresi C, Malafosse A. Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nature Genetics. 24: 343-5. PMID 10742094 DOI: 10.1038/74159 |
0.384 |
|
| 2000 |
Dubourg O, Mouton P, Brice A, LeGuern E, Bouche P. Guidelines for diagnosis of hereditary neuropathy with liability to pressure palsies. Neuromuscular Disorders. 10: 206-208. PMID 10734269 DOI: 10.1016/S0960-8966(99)00103-0 |
0.368 |
|
| 2000 |
Brassat D, Camuzat A, Vidailhet M, Feki I, Jedynak P, Klap P, Agid Y, Dürr A, Brice A. Frequency of the DYT1 mutation in primary torsion dystonia without family history. Archives of Neurology. 57: 333-5. PMID 10714658 DOI: 10.1001/Archneur.57.3.333 |
0.483 |
|
| 2000 |
Stevanin G, Dürr A, Brice A. Clinical and molecular advances in autosomal dominant cerebellar ataxias: from genotype to phenotype and physiopathology. European Journal of Human Genetics. 8: 4-18. PMID 10713882 DOI: 10.1038/Sj.Ejhg.5200403 |
0.407 |
|
| 2000 |
Stevanin G, Herman A, Dürr A, Jodice C, Frontali M, Agid Y, Brice A. Are (CTG)n expansions at the SCA8 locus rare polymorphisms? Nature Genetics. 24: 213; author reply 21. PMID 10700167 DOI: 10.1038/73408 |
0.309 |
|
| 2000 |
Fonknechten N, Mavel D, Byrne P, Davoine CS, Cruaud C, Bönsch D, Boentsch D, Samson D, Coutinho P, Hutchinson M, McMonagle P, Burgunder JM, Tartaglione A, Heinzlef O, Feki I, ... ... Brice A, et al. Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia. Human Molecular Genetics. 9: 637-44. PMID 10699187 DOI: 10.1093/Hmg/9.4.637 |
0.45 |
|
| 2000 |
Salih MAM, Maisonobe T, Kabiraj M, Al Rayess M, Al-Turaiki MHS, Akbar M, Tahan A, Urtizberea JA, Grid D, Hamadouche T, Guilbot A, Brice A, Leguern E. Autosomal recessive hereditary neuropathy with focally folded myelin sheaths and linked to chromosome 11q23: A distinct and homogeneous entity Neuromuscular Disorders. 10: 10-15. PMID 10677858 DOI: 10.1016/S0960-8966(99)00057-7 |
0.354 |
|
| 2000 |
Fontaine B, Davoine C, Dürr A, Paternotte C, Feki I, Weissenbach J, Hazan J, Brice A. A New Locus for Autosomal Dominant Pure Spastic Paraplegia, on Chromosome 2q24-q34 American Journal of Human Genetics. 66: 702-707. PMID 10677329 DOI: 10.1086/302776 |
0.375 |
|
| 2000 |
Zander C, Yuan Q-, Lindblad K, Stevanin G, Dürr A, Davoine C-, Hazan J, Fontaine B, Brice A, Schalling M. No evidence for long CAG/CTG repeats in families with spastic paraplegia linked to chromosome 2p21-24 Neuroscience Letters. 279: 41-44. PMID 10670783 DOI: 10.1016/S0304-3940(99)00946-5 |
0.426 |
|
| 2000 |
Dürr A, Lücking C, Brice A. La maladie de Parkinson due aux mutations de la parkine. M S-Medecine Sciences. 16: 1112-1115. DOI: 10.4267/10608/1535 |
0.396 |
|
| 2000 |
Verpillat P, Bouley S, Hannequin D, Belliard S, Puel M, Campion D, Clerget-Darpoux F, Brice A. Genetic association between Alzheimer's disease and the low density lipoprotein receptor-related protein gene in the French population Neurobiology of Aging. 21: 64. DOI: 10.1016/S0197-4580(00)82510-5 |
0.328 |
|
| 2000 |
Verpillat P, Bouley S, Hannequin D, Belliard S, Puel M, Campion D, Clerget-Darpoux F, Brice A. Genetic association between alpha 2-macroglobulin gene and Alzheimer's disease in the French population Neurobiology of Aging. 21: 173. DOI: 10.1016/S0197-4580(00)82117-X |
0.34 |
|
| 2000 |
Verpillat P, Bouley S, Hannequin D, Belliard S, Puel M, Thomas-Anterion C, Dubois B, Agid Y, Campion D, Clerget-Darpoux F, Brice A. α2-Macroglobulin gene and Alzheimer's disease: Confirmation of association by haplotypes analyses Annals of Neurology. 48: 400-402. DOI: 10.1002/1531-8249(200009)48:3<400::Aid-Ana22>3.0.Co;2-L |
0.342 |
|
| 2000 |
Camuzat A, Verpillat P, Dubois B, Penet C, Agid Y, Brice A, Moreaud O, Puel M, Clerget-Darpoux F, Kinter J, Kozlov S, Berger P, Sonderegger P, Raux G, Campion C, et al. Mutations in the neuroserpin gene are rare in familial dementia Annals of Neurology. 47: 688-688. DOI: 10.1002/1531-8249(200005)47:5<688::Aid-Ana31>3.0.Co;2-0 |
0.446 |
|
| 1999 |
Hazan J, Fonknechten N, Mavel D, Paternotte C, Samson D, Artiguenave F, Davoine CS, Cruaud C, Dürr A, Wincker P, Brottier P, Cattolico L, Barbe V, Burgunder JM, Prud'homme JF, ... Brice A, et al. Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. Nature Genetics. 23: 296-303. PMID 10610178 DOI: 10.1038/15472 |
0.422 |
|
| 1999 |
Stevanin G, David G, Dürr A, Giunti P, Benomar A, Abada-Bendib M, Lee MS, Agid Y, Brice A. Multiple origins of the spinocerebellar ataxia 7 (SCA7) mutation revealed by linkage disequilibrium studies with closely flanking markers, including an intragenic polymorphism (G3145TG/A3145TG). European Journal of Human Genetics : Ejhg. 7: 889-96. PMID 10602364 DOI: 10.1038/Sj.Ejhg.5200392 |
0.427 |
|
| 1999 |
Guilbot A, Ravisé N, Bouhouche A, Coullin P, Birouk N, Maisonobe T, Kuntzer T, Vial C, Grid D, Brice A, LeGuern E. Genetic, cytogenetic and physical refinement of the autosomal recessive CMT linked to 5q31-q33: exclusion of candidate genes including EGR1. European Journal of Human Genetics. 7: 849-859. PMID 10602360 DOI: 10.1038/Sj.Ejhg.5200382 |
0.352 |
|
| 1999 |
Lopes J, Tardieu S, Silander K, Blair I, Vandenberghe A, Palau F, Ruberg M, Brice A, LeGuern E. Homologous DNA Exchanges in Humans Can Be Explained by the Yeast Double-Strand Break Repair Model: A Study of 17p11.2 Rearrangements Associated with CMT1A and HNPP Human Molecular Genetics. 8: 2285-2292. PMID 10545609 DOI: 10.1093/Hmg/8.12.2285 |
0.302 |
|
| 1999 |
Bürk K, Fetter M, Abele M, Laccone F, Brice A, Dichgans J, Klockgether T. Autosomal dominant cerebellar ataxia type I: oculomotor abnormalities in families with SCA1, SCA2, and SCA3. Journal of Neurology. 246: 789-97. PMID 10525976 DOI: 10.1007/S004150050456 |
0.39 |
|
| 1999 |
Stevanin G, Herman A, Brice A, Dürr A. Clinical and MRI findings in spinocerebellar ataxia type 5. Neurology. 53: 1355-1355. PMID 10522902 DOI: 10.1212/Wnl.53.6.1355 |
0.379 |
|
| 1999 |
Hazan J, Davoine C, Mavel D, Fonknechten N, Paternotte C, Fizames C, Cruaud C, Samson D, Muselet D, Vega-Czarny N, Brice A, Gyapay G, Heilig R, Fontaine B, Weissenbach J. A fine integrated map of the SPG4 locus excludes an expanded CAG repeat in chromosome 2p-linked autosomal dominant spastic paraplegia. Genomics. 60: 309-319. PMID 10493830 DOI: 10.1006/Geno.1999.5932 |
0.373 |
|
| 1999 |
Baulac S, Gourfinkel-An I, Picard F, Rosenberg-Bourgin M, Prud'homme JF, Baulac M, Brice A, LeGuern E. A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33. American Journal of Human Genetics. 65: 1078-85. PMID 10486327 DOI: 10.1086/302593 |
0.322 |
|
| 1999 |
Brassat D, Durr A, Agid Y, Brice A. [Genetics of Parkinson disease]. La Revue De Mã©Decine Interne / Fondã©E ... Par La Sociã©Tã© Nationale Francaise De Mã©Decine Interne. 20: 709-14. PMID 10480176 DOI: 10.1016/S0248-8663(99)80493-7 |
0.305 |
|
| 1999 |
Harhangi BS, Farrer MJ, Lincoln S, Bonifati V, Meco G, Michele GD, Brice A, Dürr A, Martinez M, Gasser T, Bereznai B, Vaughan JR, Wood NW, Hardy J, Oostra BA, et al. The Ile93Met mutation in the ubiquitin carboxy-terminal-hydrolase-L1 gene is not observed in European cases with familial Parkinson's disease Neuroscience Letters. 270: 1-4. PMID 10454131 DOI: 10.1016/S0304-3940(99)00465-6 |
0.444 |
|
| 1999 |
Bouhouche A, Benomar A, Birouk N, Mularoni A, Meggouh F, Tassin J, Grid D, Vandenberghe A, Yahyaoui M, Chkili T, Brice A, LeGuern E. A locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 1q21.2-q21.3. American Journal of Human Genetics. 65: 722-727. PMID 10441578 DOI: 10.1086/302542 |
0.362 |
|
| 1999 |
Campion D, Dumanchin C, Hannequin D, Dubois B, Belliard S, Puel M, Thomas-Anterion C, Michon A, Martin C, Charbonnier F, Raux G, Camuzat A, Penet C, Mesnage V, Martinez M, ... ... Brice A, et al. Early-onset autosomal dominant Alzheimer disease: Prevalence, genetic heterogeneity, and mutation spectrum American Journal of Human Genetics. 65: 664-670. PMID 10441572 DOI: 10.1086/302553 |
0.484 |
|
| 1999 |
Allard J, Barron S, Trottier S, Cervera P, Daumas-Duport C, Leguern E, Brice A, Schwartz JC, Sokoloff P. Edg-2 in myelin-forming cells: isoforms, genomic mapping, and exclusion in Charcot-Marie-Tooth disease. Glia. 26: 176-85. PMID 10384882 DOI: 10.1002/(Sici)1098-1136(199904)26:2<176::Aid-Glia8>3.0.Co;2-K |
0.355 |
|
| 1999 |
Ring HZ, Chang H, Guilbot A, Brice A, LeGuern E, Francke U. The human neuregulin-2 (NRG2) gene: cloning, mapping and evaluation as a candidate for the autosomal recessive form of Charcot-Marie-Tooth disease linked to 5q. Human Genetics. 104: 326-32. PMID 10369162 DOI: 10.1007/S004390050961 |
0.429 |
|
| 1999 |
Kubis N, Dürr A, Gugenheim M, Chneiweiss H, Mazzetti P, Brice A, Bouche P. Polyneuropathy in autosomal dominant cerebellar ataxias: phenotype-genotype correlation. Muscle & Nerve. 22: 712-717. PMID 10366224 DOI: 10.1002/(Sici)1097-4598(199906)22:6<712::Aid-Mus7>3.0.Co;2-0 |
0.354 |
|
| 1999 |
Giunti P, Stevanin G, Worth PF, David G, Brice A, Wood NW. Molecular and clinical study of 18 families with ADCA type II: evidence for genetic heterogeneity and de novo mutation. American Journal of Human Genetics. 64: 1594-1603. PMID 10330346 DOI: 10.1086/302406 |
0.478 |
|
| 1999 |
Mouton P, Tardieu S, Gouider R, Birouk N, Maisonobe T, Dubourg O, Brice A, LeGuern E, Bouche P. Spectrum of clinical and electrophysiologic features in HNPP patients with the 17p11.2 deletion Neurology. 52: 1440-1440. PMID 10227632 DOI: 10.1212/Wnl.52.7.1440 |
0.319 |
|
| 1999 |
Philippe A, Martinez M, Guilloud-Bataille M, Gillberg C, RÃ¥stam M, Sponheim E, Coleman M, Zappella M, Aschauer H, Van Maldergem L, Penet C, Feingold J, Brice A, Leboyer M, van Malldergerme L. Genome-wide scan for autism susceptibility genes. Paris Autism Research International Sibpair Study. Human Molecular Genetics. 8: 805-12. PMID 10196369 DOI: 10.1093/Hmg/8.5.805 |
0.323 |
|
| 1999 |
Ancolio K, Dumanchin C, Barelli H, Warter JM, Brice A, Campion D, Frébourg T, Checler F. Unusual phenotypic alteration of beta amyloid precursor protein (betaAPP) maturation by a new Val-715 --> Met betaAPP-770 mutation responsible for probable early-onset Alzheimer's disease. Proceedings of the National Academy of Sciences of the United States of America. 96: 4119-24. PMID 10097173 DOI: 10.1073/Pnas.96.7.4119 |
0.346 |
|
| 1999 |
Sabbagh N, Brice A, Marez D, Dürr A, Legrand M, Lo Guidice JM, Destée A, Agid Y, Broly F. CYP2D6 polymorphism and Parkinson's disease susceptibility. Movement Disorders : Official Journal of the Movement Disorder Society. 14: 230-6. PMID 10091614 DOI: 10.1002/1531-8257(199903)14:2<230::Aid-Mds1005>3.0.Co;2-6 |
0.416 |
|
| 1999 |
Trottier Y, Cancel G, An-Gourfinkel I, Lutz Y, Weber C, Brice A, Hirsch E, Mandel JL. Heterogeneous intracellular localization and expression of ataxin-3. Neurobiology of Disease. 5: 335-47. PMID 10069576 DOI: 10.1006/Nbdi.1998.0208 |
0.325 |
|
| 1999 |
Lebre AS, Durr A, Jedynak P, Ponsot G, Vidailhet M, Agid Y, Brice A. DYT1 mutation in French families with idiopathic torsion dystonia. Brain : a Journal of Neurology. 122: 41-5. PMID 10050893 DOI: 10.1093/Brain/122.1.41 |
0.458 |
|
| 1999 |
Cossée M, Dürr A, Schmitt M, Dahl N, Trouillas P, Allinson P, Kostrzewa M, Nivelon-Chevallier A, Gustavson KH, Kohlschütter A, Müller U, Mandel JL, Brice A, Koenig M, Cavalcanti F, et al. Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes. Annals of Neurology. 45: 200-6. PMID 9989622 DOI: 10.1002/1531-8249(199902)45:2<200::Aid-Ana10>3.0.Co;2-U |
0.466 |
|
| 1999 |
Didierjean O, Cancel G, Stevanin G, Dürr A, Bürk K, Benomar A, Lezin A, Belal S, Abada-Bendid M, Klockgether T, Brice A. Linkage disequilibrium at the SCA2 locus Journal of Medical Genetics. 36: 415-417. DOI: 10.1136/Jmg.36.5.415 |
0.481 |
|
| 1999 |
Dürr A, Hahn-Barma V, Brice A, Pêcheux C, Dodé C, Feingold J. Homozygosity in Huntington’s disease Journal of Medical Genetics. 36: 172-173. DOI: 10.1136/Jmg.36.2.172 |
0.397 |
|
| 1998 |
Picard F, Tassin J, Vidailhet M, Marescaux C, Picard F, Agid Y, Brice A. Autosomal dominant paroxysmal kinesigenic choreoathetosis: a clinical and genetic study of two families. Journal of Neurology, Neurosurgery, and Psychiatry. 65: 955-6. PMID 9854993 DOI: 10.1136/Jnnp.65.6.955 |
0.388 |
|
| 1998 |
Klockgether T, Skalej M, Wedekind D, Luft AR, Welte D, Schulz JB, Abele M, Bürk K, Laccone F, Brice A, Dichgans J. Autosomal dominant cerebellar ataxia type I. MRI-based volumetry of posterior fossa structures and basal ganglia in spinocerebellar ataxia types 1, 2 and 3. Brain : a Journal of Neurology. 121: 1687-93. PMID 9762957 DOI: 10.1093/Brain/121.9.1687 |
0.377 |
|
| 1998 |
Takano H, Cancel G, Ikeuchi T, Lorenzetti D, Mawad R, Stevanin G, Didierjean O, Dürr A, Oyake M, Shimohata T, Sasaki R, Koide R, Igarashi S, Hayashi S, Takiyama Y, ... ... Brice A, et al. Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations. American Journal of Human Genetics. 63: 1060-6. PMID 9758625 DOI: 10.1086/302067 |
0.357 |
|
| 1998 |
Brice A. Unstable mutations and neurodegenerative disorders Journal of Neurology. 245: 505-510. PMID 9747913 DOI: 10.1007/S004150050234 |
0.393 |
|
| 1998 |
Dumanchin C, Camuzat A, Campion D, Verpillat P, Hannequin D, Dubois B, Saugier-Veber P, Martin C, Penet C, Charbonnier F, Agid Y, Frebourg T, Brice A. Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonism. Human Molecular Genetics. 7: 1825-9. PMID 9736786 DOI: 10.1093/Hmg/7.11.1825 |
0.497 |
|
| 1998 |
Stevanin G, Giunti P, David G, Belal S, Dürr A, Ruberg M, Wood N, Brice A. De Novo Expansion of Intermediate Alleles in Spinocerebellar Ataxia 7 Human Molecular Genetics. 7: 1809-1813. PMID 9736784 DOI: 10.1093/Hmg/7.11.1809 |
0.485 |
|
| 1998 |
Dumanchin C, Brice A, Campion D, Hannequin D, Martin C, Moreau V, Agid Y, Martinez M, Clerget-Darpoux F, Frebourg T. De novo presenilin 1 mutations are rare in clinically sporadic, early onset Alzheimer's disease cases. French Alzheimer's Disease Study Group. Journal of Medical Genetics. 35: 672-3. PMID 9719376 DOI: 10.1136/Jmg.35.8.672 |
0.47 |
|
| 1998 |
Vaughan J, Durr A, Tassin J, Bereznai B, Gasser T, Bonifati V, De Michele G, Fabrizio E, Volpe G, Bandmann O, Johnson WG, Golbe LI, Breteler M, Meco G, Agid Y, ... Brice A, et al. The alpha-synuclein Ala53Thr mutation is not a common cause of familial Parkinson's disease: a study of 230 European cases. European Consortium on Genetic Susceptibility in Parkinson's Disease. Annals of Neurology. 44: 270-3. PMID 9708553 DOI: 10.1002/Ana.410440221 |
0.478 |
|
| 1998 |
Gourfinkel-An I, Cancel G, Duyckaerts C, Faucheux B, Hauw JJ, Trottier Y, Brice A, Agid Y, Hirsch EC. Neuronal distribution of intranuclear inclusions in Huntington's disease with adult onset. Neuroreport. 9: 1823-6. PMID 9665608 DOI: 10.1097/00001756-199806010-00028 |
0.429 |
|
| 1998 |
Tassin J, Dürr A, de Broucker T, Abbas N, Bonifati V, De Michele G, Bonnet AM, Broussolle E, Pollak P, Vidailhet M, De Mari M, Marconi R, Medjbeur S, Filla A, Meco G, ... ... Brice A, et al. Chromosome 6-linked autosomal recessive early-onset Parkinsonism: linkage in European and Algerian families, extension of the clinical spectrum, and evidence of a small homozygous deletion in one family. The French Parkinson's Disease Genetics Study Group, and the European Consortium on Genetic Susceptibility in Parkinson's Disease. American Journal of Human Genetics. 63: 88-94. PMID 9634531 DOI: 10.1086/301934 |
0.435 |
|
| 1998 |
Martinez M, Campion D, Brice A, Hannequin D, Dubois B, Didierjean O, Michon A, Thomas-Anterion C, Puel M, Frebourg T, Agid Y, Clerget-Darpoux F. Apolipoprotein E epsilon4 allele and familial aggregation of Alzheimer disease. Archives of Neurology. 55: 810-6. PMID 9626772 DOI: 10.1001/Archneur.55.6.810 |
0.312 |
|
| Show low-probability matches. |