| Year |
Citation |
Score |
| 2023 |
Grangeon L, Charbonnier C, Zarea A, Rousseau S, Rovelet-Lecrux A, Bendetowicz D, Lemaitre M, Malrain C, Quillard-Muraine M, Cassinari K, Maltete D, Pariente J, Moreaud O, Magnin E, Cretin B, et al. Phenotype and imaging features associated with APP duplications. Alzheimer's Research & Therapy. 15: 93. PMID 37170141 DOI: 10.1186/s13195-023-01172-2 |
0.605 |
|
| 2022 |
Coursimault J, Rovelet-Lecrux A, Cassinari K, Brischoux-Boucher E, Saugier-Veber P, Goldenberg A, Lecoquierre F, Drouot N, Richard AC, Vera G, Coutant S, Quenez O, Rolain M, Bonnet C, Bronner M, et al. uORF-introducing variants in the 5'UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome. Human Mutation. PMID 35446447 DOI: 10.1002/humu.24384 |
0.309 |
|
| 2022 |
Miguel L, Rovelet-Lecrux A, Chambon P, Joly-Helas G, Rousseau S, Wallon D, Epelbaum S, Frébourg T, Campion D, Nicolas G, Lecourtois M. Generation of 17q21.31 duplication iPSC-derived neurons as a model for primary tauopathies. Stem Cell Research. 61: 102762. PMID 35358831 DOI: 10.1016/j.scr.2022.102762 |
0.799 |
|
| 2022 |
Nicolas G, Sévigny M, Lecoquierre F, Marguet F, Deschênes A, Del Pelaez MC, Feuillette S, Audebrand A, Lecourtois M, Rousseau S, Richard AC, Cassinari K, Deramecourt V, Duyckaerts C, Boland A, ... ... Rovelet-Lecrux A, et al. A postzygotic de novo NCDN mutation identified in a sporadic FTLD patient results in neurochondrin haploinsufficiency and altered FUS granule dynamics. Acta Neuropathologica Communications. 10: 20. PMID 35151370 DOI: 10.1186/s40478-022-01314-x |
0.8 |
|
| 2021 |
Rovelet-Lecrux A, Feuillette S, Miguel L, Schramm C, Pernet S, Quenez O, Ségalas-Milazzo I, Guilhaudis L, Rousseau S, Riou G, Frébourg T, Campion D, Nicolas G, Lecourtois M. Impaired SorLA maturation and trafficking as a new mechanism for SORL1 missense variants in Alzheimer disease. Acta Neuropathologica Communications. 9: 196. PMID 34922638 DOI: 10.1186/s40478-021-01294-4 |
0.767 |
|
| 2021 |
Rochoux Q, Sopkova-de Oliveira Santos J, Marcelli C, Rovelet-Lecrux A, Chevallier V, Dutheil JJ, Leclercq S, Boumédiene K, Baugé C, Aury-Landas J. Description of Joint Alterations Observed in a Family Carrying p.Asn453Ser Variant: Clinical Phenotypes, In Silico Prediction of Functional Impact on Protein and Stability, and Review of the Literature. Biomolecules. 11. PMID 34680093 DOI: 10.3390/biom11101460 |
0.306 |
|
| 2021 |
Grangeon L, Cassinari K, Rousseau S, Croisile B, Formaglio M, Moreaud O, Boutonnat J, Le Meur N, Miné M, Coste T, Pipiras E, Tournier-Lasserve E, Rovelet-Lecrux A, Campion D, Wallon D, et al. Early-Onset Cerebral Amyloid Angiopathy and Alzheimer Disease Related to an APP Locus Triplication. Neurology. Genetics. 7: e609. PMID 34532568 DOI: 10.1212/NXG.0000000000000609 |
0.616 |
|
| 2021 |
Alić I, Goh PA, Murray A, Portelius E, Gkanatsiou E, Gough G, Mok KY, Koschut D, Brunmeir R, Yeap YJ, O'Brien NL, Groet J, Shao X, Havlicek S, Dunn NR, ... ... Rovelet-Lecrux A, et al. Correction: Patient-specific Alzheimer-like pathology in trisomy 21 cerebral organoids reveals BACE2 as a gene dose-sensitive AD suppressor in human brain. Molecular Psychiatry. PMID 34272490 DOI: 10.1038/s41380-021-01206-x |
0.34 |
|
| 2021 |
Wallon D, Boluda S, Rovelet-Lecrux A, Thierry M, Lagarde J, Miguel L, Lecourtois M, Bonnevalle A, Sarazin M, Bottlaender M, Mula M, Marty S, Nakamura N, Schramm C, Sellal F, et al. Clinical and neuropathological diversity of tauopathy in MAPT duplication carriers. Acta Neuropathologica. PMID 34095977 DOI: 10.1007/s00401-021-02320-4 |
0.783 |
|
| 2021 |
Gelpi E, Aldecoa I, Lopez-Villegas D, Abellan-Vidal MT, Mercadel-Fañanas P, Fortea J, Roser R, Estrella M, Gomez-Anson B, Molina-Porcel L, Ximelis T, Borrego S, Antonell A, Rovelet-Lecrux A, Klotz S, et al. Atypical astroglial pTDP-43 pathology in astroglial predominant tauopathy. Neuropathology and Applied Neurobiology. PMID 33730418 DOI: 10.1111/nan.12707 |
0.322 |
|
| 2020 |
Alić I, Goh PA, Murray A, Portelius E, Gkanatsiou E, Gough G, Mok KY, Koschut D, Brunmeir R, Yeap YJ, O'Brien NL, Groet J, Shao X, Havlicek S, Dunn NR, ... ... Rovelet-Lecrux A, et al. Patient-specific Alzheimer-like pathology in trisomy 21 cerebral organoids reveals BACE2 as a gene dose-sensitive AD suppressor in human brain. Molecular Psychiatry. PMID 32647257 DOI: 10.1038/S41380-020-0806-5 |
0.509 |
|
| 2020 |
Quenez O, Cassinari K, Coutant S, Lecoquierre F, Le Guennec K, Rousseau S, Richard AC, Vasseur S, Bouvignies E, Bou J, Lienard G, Manase S, Fourneaux S, Drouot N, Nguyen-Viet V, ... ... Rovelet-Lecrux A, et al. Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation. European Journal of Human Genetics : Ejhg. PMID 32591635 DOI: 10.1038/S41431-020-0672-2 |
0.508 |
|
| 2020 |
Cassinari K, Rovelet-Lecrux A, Tury S, Quenez O, Richard AC, Charbonnier C, Olaso R, Boland A, Deleuze JF, Besancenot JF, Delpont B, Pouliquen D, Lecoquierre F, Chambon P, Thauvin-Robinet C, et al. Haploinsufficiency of the Primary Familial Brain Calcification Gene SLC20A2 Mediated by Disruption of a Regulatory Element. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 32506582 DOI: 10.1002/Mds.28090 |
0.569 |
|
| 2019 |
Miguel L, Rovelet-Lecrux A, Feyeux M, Frebourg T, Nassoy P, Campion D, Lecourtois M. Detection of all adult Tau isoforms in a 3D culture model of iPSC-derived neurons. Stem Cell Research. 40: 101541. PMID 31522011 DOI: 10.1016/J.Scr.2019.101541 |
0.761 |
|
| 2019 |
Lacour M, Quenez O, Rovelet-Lecrux A, Salomon B, Rousseau S, Richard AC, Quillard-Muraine M, Pasquier F, Rollin-Sillaire A, Martinaud O, Zarea A, de la Sayette V, Boutoleau-Bretonniere C, Etcharry-Bouyx F, Chauviré V, et al. Causative Mutations and Genetic Risk Factors in Sporadic Early Onset Alzheimer's Disease Before 51 Years. Journal of Alzheimer's Disease : Jad. PMID 31381512 DOI: 10.3233/Jad-190193 |
0.677 |
|
| 2019 |
Cassinari K, Quenez O, Joly-Hélas G, Beaussire L, Le Meur N, Castelain M, Goldenberg A, Guerrot AM, Brehin AC, Deleuze JF, Boland A, Rovelet-Lecrux A, Campion D, Saugier-Veber P, Gruchy N, et al. A Simple, Universal, and Cost-Efficient Digital PCR Method for the Targeted Analysis of Copy Number Variations. Clinical Chemistry. PMID 31292136 DOI: 10.1373/Clinchem.2019.304246 |
0.519 |
|
| 2019 |
Grangeon L, Wallon D, Charbonnier C, Quenez O, Richard AC, Rousseau S, Budowski C, Lebouvier T, Corbille AG, Vidailhet M, Méneret A, Roze E, Anheim M, Tranchant C, Favrole P, ... ... Rovelet-Lecrux A, et al. Biallelic MYORG mutation carriers exhibit primary brain calcification with a distinct phenotype. Brain : a Journal of Neurology. PMID 31009047 DOI: 10.1093/Brain/Awz095 |
0.614 |
|
| 2019 |
Auboyer L, Monzo C, Wallon D, Rovelet-Lecrux A, Gabelle A, Gazagne I, Cacheux V, Lehmann S, Crozet C. Generation of induced pluripotent stem cells (iPSCs) IRMBi002-A from an Alzheimer's disease patient carrying a D694N mutation in the APP gene. Stem Cell Research. 37: 101438. PMID 31004935 DOI: 10.1016/J.Scr.2019.101438 |
0.451 |
|
| 2019 |
Boscher E, Husson T, Quenez O, Laquerrière A, Marguet F, Cassinari K, Wallon D, Martinaud O, Charbonnier C, Nicolas G, Deleuze JF, Boland A, Lathrop M, Frébourg T, ... ... Rovelet-Lecrux A, et al. Copy Number Variants in miR-138 as a Potential Risk Factor for Early-Onset Alzheimer's Disease. Journal of Alzheimer's Disease : Jad. PMID 30909216 DOI: 10.3233/Jad-180940 |
0.585 |
|
| 2019 |
Auboyer L, Monzo C, Wallon D, Rovelet-Lecrux A, Gabelle A, Gazagne I, Cacheux V, Lehmann S, Crozet C. Generation of induced pluripotent stem cells (IRMBi001-A) from an Alzheimer's disease patient carrying a G217D mutation in the PSEN1 gene. Stem Cell Research. 34: 101381. PMID 30677723 DOI: 10.1016/J.Scr.2018.101381 |
0.432 |
|
| 2017 |
Le Guennec K, Veugelen S, Quenez O, Szaruga M, Rousseau S, Nicolas G, Wallon D, Fluchere F, Frébourg T, De Strooper B, Campion D, Chávez-Gutiérrez L, Rovelet-Lecrux A. Deletion of exons 9 and 10 of the Presenilin 1 gene in a patient with Early-onset Alzheimer Disease generates longer amyloid seeds. Neurobiology of Disease. PMID 28461250 DOI: 10.1016/J.Nbd.2017.04.020 |
0.68 |
|
| 2017 |
Lanoiselée HM, Nicolas G, Wallon D, Rovelet-Lecrux A, Lacour M, Rousseau S, Richard AC, Pasquier F, Rollin-Sillaire A, Martinaud O, Quillard-Muraine M, de la Sayette V, Boutoleau-Bretonniere C, Etcharry-Bouyx F, Chauviré V, et al. APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases. Plos Medicine. 14: e1002270. PMID 28350801 DOI: 10.1371/Journal.Pmed.1002270 |
0.689 |
|
| 2017 |
Murray A, Goh P, Yeap Y, Startin C, Hamburg S, Hithersay R, d'Souza H, Mok K, Rovelet-Lecrux A, Wallon D, Choolani M, Chan J, Botte A, Potier M, Augustine G, et al. Genetic Dissection Of Severity And Onset Modulators For Alzheimer’S Pathology In Down Syndrome Using Cellular Systems Alzheimers & Dementia. 13. DOI: 10.1016/J.Jalz.2017.06.1380 |
0.308 |
|
| 2016 |
Le Guennec K, Quenez O, Nicolas G, Wallon D, Rousseau S, Richard AC, Alexander J, Paschou P, Charbonnier C, Bellenguez C, Grenier-Boley B, Lechner D, Bihoreau MT, Olaso R, Boland A, ... ... Rovelet-Lecrux A, et al. 17q21.31 duplication causes prominent tau-related dementia with increased MAPT expression. Molecular Psychiatry. PMID 27956742 DOI: 10.1038/Mp.2016.226 |
0.661 |
|
| 2016 |
Sellal F, Wallon D, Martinez-Almoyna L, Marelli C, Dhar A, Oesterlé H, Rovelet-Lecrux A, Rousseau S, Kourkoulis CE, Rosand J, DiPucchio ZY, Frosch M, Gombert C, Audoin B, Mine M, et al. APP Mutations in Cerebral Amyloid Angiopathy with or without Cortical Calcifications: Report of Three Families and a Literature Review. Journal of Alzheimer's Disease : Jad. PMID 27858710 DOI: 10.3233/Jad-160709 |
0.652 |
|
| 2016 |
Zarea A, Charbonnier C, Rovelet-Lecrux A, Nicolas G, Rousseau S, Borden A, Pariente J, Le Ber I, Pasquier F, Formaglio M, Martinaud O, Rollin-Sillaire A, Sarazin M, Croisile B, Boutoleau-Bretonnière C, et al. Seizures in dominantly inherited Alzheimer disease. Neurology. PMID 27466472 DOI: 10.1212/Wnl.0000000000003048 |
0.589 |
|
| 2016 |
David S, Ferreira J, Quenez O, Rovelet-Lecrux A, Richard AC, Vérin M, Jurici S, Le Ber I, Boland A, Deleuze JF, Frebourg T, Mendes de Oliveira JR, Hannequin D, Campion D, Nicolas G. Identification of partial SLC20A2 deletions in primary brain calcification using whole-exome sequencing. European Journal of Human Genetics : Ejhg. PMID 27245298 DOI: 10.1038/Ejhg.2016.50 |
0.591 |
|
| 2016 |
Le Guennec K, Nicolas G, Quenez O, Charbonnier C, Wallon D, Bellenguez C, Grenier-Boley B, Rousseau S, Richard AC, Rovelet-Lecrux A, Bacq D, Garnier JG, Olaso R, Boland A, Meyer V, et al. ABCA7 rare variants and Alzheimer disease risk. Neurology. PMID 27037229 DOI: 10.1212/Wnl.0000000000002627 |
0.631 |
|
| 2016 |
Campion D, Pottier C, Nicolas G, Le Guennec K, Rovelet-Lecrux A. Alzheimer disease: modeling an Aβ-centered biological network. Molecular Psychiatry. PMID 27021818 DOI: 10.1038/Mp.2016.38 |
0.662 |
|
| 2016 |
Richard AC, Rovelet-Lecrux A, Delaby E, Charbonnier C, Thiruvahindrapuram B, Hatchwell E, Eis PS, Afenjar A, Dussardier BG, Scherer SW, Betancur C, Campion D. The 22q11 PRODH/DGCR6 deletion is frequent in hyperprolinemic subjects but is not a strong risk factor for ASD. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. PMID 26978485 DOI: 10.1002/Ajmg.B.32416 |
0.571 |
|
| 2016 |
Richard AC, Rovelet-Lecrux A, Delaby E, Charbonnier C, Thiruvahindrapuram B, Hatchwell E, Eis PS, Afenjar A, Dussardier BG, Scherer SW, Betancur C, Campion D. The 22q11 PRODH/DGCR6 deletion is frequent in hyperprolinemic subjects but is not a strong risk factor for ASD American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics. DOI: 10.1002/ajmg.b.32416 |
0.419 |
|
| 2015 |
Nicolas G, Charbonnier C, Wallon D, Quenez O, Bellenguez C, Grenier-Boley B, Rousseau S, Richard AC, Rovelet-Lecrux A, Le Guennec K, Bacq D, Garnier JG, Olaso R, Boland A, Meyer V, et al. SORL1 rare variants: a major risk factor for familial early-onset Alzheimer's disease. Molecular Psychiatry. PMID 26303663 DOI: 10.1038/Mp.2015.121 |
0.453 |
|
| 2015 |
Nicolas G, Wallon D, Charbonnier C, Quenez O, Rousseau S, Richard AC, Rovelet-Lecrux A, Coutant S, Le Guennec K, Bacq D, Garnier JG, Olaso R, Boland A, Meyer V, Deleuze JF, et al. Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons. European Journal of Human Genetics : Ejhg. PMID 26242991 DOI: 10.1038/Ejhg.2015.173 |
0.665 |
|
| 2015 |
Rovelet-Lecrux A, Charbonnier C, Wallon D, Nicolas G, Seaman MN, Pottier C, Breusegem SY, Mathur PP, Jenardhanan P, Le Guennec K, Mukadam AS, Quenez O, Coutant S, Rousseau S, Richard AC, et al. De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease. Molecular Psychiatry. PMID 26194182 DOI: 10.1038/Mp.2015.100 |
0.677 |
|
| 2015 |
Nicolas G, Wallon D, Goupil C, Richard AC, Pottier C, Dorval V, Sarov-Rivière M, Riant F, Hervé D, Amouyel P, Guerchet M, Ndamba-Bandzouzi B, Mbelesso P, Dartigues JF, Lambert JC, ... ... Rovelet-Lecrux A, et al. Mutation in the 3'untranslated region of APP as a genetic determinant of cerebral amyloid angiopathy. European Journal of Human Genetics : Ejhg. PMID 25828868 DOI: 10.1038/Ejhg.2015.61 |
0.649 |
|
| 2014 |
Shinohara M, Fujioka S, Murray ME, Wojtas A, Baker M, Rovelet-Lecrux A, Rademakers R, Das P, Parisi JE, Graff-Radford NR, Petersen RC, Dickson DW, Bu G. Regional distribution of synaptic markers and APP correlate with distinct clinicopathological features in sporadic and familial Alzheimer's disease. Brain : a Journal of Neurology. 137: 1533-49. PMID 24625695 DOI: 10.1093/Brain/Awu046 |
0.496 |
|
| 2014 |
Nicolas G, Rovelet-Lecrux A, Pottier C, Martinaud O, Wallon D, Vernier L, Landemore G, Chapon F, Prieto-Morin C, Tournier-Lasserve E, Frébourg T, Campion D, Hannequin D. PDGFB partial deletion: a new, rare mechanism causing brain calcification with leukoencephalopathy. Journal of Molecular Neuroscience : Mn. 53: 171-5. PMID 24604296 DOI: 10.1007/S12031-014-0265-Z |
0.625 |
|
| 2014 |
Nicolas G, Jacquin A, Thauvin-Robinet C, Rovelet-Lecrux A, Rouaud O, Pottier C, Aubriot-Lorton MH, Rousseau S, Wallon D, Duvillard C, Béjot Y, Frébourg T, Giroud M, Campion D, Hannequin D. A de novo nonsense PDGFB mutation causing idiopathic basal ganglia calcification with laryngeal dystonia. European Journal of Human Genetics : Ejhg. 22: 1236-8. PMID 24518837 DOI: 10.1038/Ejhg.2014.9 |
0.563 |
|
| 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 |
0.607 |
|
| 2014 |
Wallon D, Rovelet-Lecrux A, Pasquier F, Le Ber I, Paquet C, Campion D, Hannequin D. Génétique de la maladie d’Alzheimer sporadique avant 50ans Revue Neurologique. 170: A196-A197. DOI: 10.1016/J.Neurol.2014.01.525 |
0.448 |
|
| 2013 |
Nicolas G, Pottier C, Charbonnier C, Guyant-Maréchal L, Le Ber I, Pariente J, Labauge P, Ayrignac X, Defebvre L, Maltête D, Martinaud O, Lefaucheur R, Guillin O, Wallon D, Chaumette B, ... ... Rovelet-Lecrux A, et al. Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification. Brain : a Journal of Neurology. 136: 3395-407. PMID 24065723 DOI: 10.1093/Brain/Awt255 |
0.588 |
|
| 2013 |
Pottier C, Wallon D, Rousseau S, Rovelet-Lecrux A, Richard AC, Rollin-Sillaire A, Frebourg T, Campion D, Hannequin D. TREM2 R47H variant as a risk factor for early-onset Alzheimer's disease. Journal of Alzheimer's Disease : Jad. 35: 45-9. PMID 23380991 DOI: 10.3233/Jad-122311 |
0.643 |
|
| 2013 |
Nicolas G, Pottier C, Maltête D, Coutant S, Rovelet-Lecrux A, Legallic S, Rousseau S, Vaschalde Y, Guyant-Maréchal L, Augustin J, Martinaud O, Defebvre L, Krystkowiak P, Pariente J, Clanet M, et al. Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification. Neurology. 80: 181-7. PMID 23255827 DOI: 10.1212/Wnl.0B013E31827Ccf34 |
0.565 |
|
| 2012 |
Rovelet-Lecrux A, Campion D. Copy number variations involving the microtubule-associated protein tau in human diseases. Biochemical Society Transactions. 40: 672-6. PMID 22817714 DOI: 10.1042/Bst20120045 |
0.623 |
|
| 2012 |
Wallon D, Rovelet-Lecrux A, Deramecourt V, Pariente J, Auriacombe S, Le Ber I, Schraen S, Pasquier F, Campion D, Hannequin D. Definite behavioral variant of frontotemporal dementia with C9ORF72 expansions despite positive Alzheimer's disease cerebrospinal fluid biomarkers. Journal of Alzheimer's Disease : Jad. 32: 19-22. PMID 22766732 DOI: 10.3233/Jad-2012-120877 |
0.643 |
|
| 2012 |
Wallon D, Rousseau S, Rovelet-Lecrux A, Quillard-Muraine M, Guyant-Maréchal L, Martinaud O, Pariente J, Puel M, Rollin-Sillaire A, Pasquier F, Le Ber I, Sarazin M, Croisile B, Boutoleau-Bretonnière C, Thomas-Antérion C, et al. The French series of autosomal dominant early onset Alzheimer's disease cases: mutation spectrum and cerebrospinal fluid biomarkers. Journal of Alzheimer's Disease : Jad. 30: 847-56. PMID 22475797 DOI: 10.3233/Jad-2012-120172 |
0.646 |
|
| 2012 |
Pottier C, Hannequin D, Coutant S, Rovelet-Lecrux A, Wallon D, Rousseau S, Legallic S, Paquet C, Bombois S, Pariente J, Thomas-Anterion C, Michon A, Croisile B, Etcharry-Bouyx F, Berr C, et al. High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease. Molecular Psychiatry. 17: 875-9. PMID 22472873 DOI: 10.1038/mp.2012.15 |
0.394 |
|
| 2012 |
Rovelet-Lecrux A, Legallic S, Wallon D, Flaman JM, Martinaud O, Bombois S, Rollin-Sillaire A, Michon A, Le Ber I, Pariente J, Puel M, Paquet C, Croisile B, Thomas-Antérion C, Vercelletto M, et al. A genome-wide study reveals rare CNVs exclusive to extreme phenotypes of Alzheimer disease. European Journal of Human Genetics : Ejhg. 20: 613-7. PMID 22166940 DOI: 10.1038/Ejhg.2011.225 |
0.69 |
|
| 2012 |
Wallon D, Pottier C, Rovelet-Lecrux A, Maltête D, Jurici S, Hannequin D, Campion D. Expression du gène APP au niveau des lymphocytes périphériques dans la maladie d’Alzheimer Revue Neurologique. 168: A11-A12. DOI: 10.1016/J.Neurol.2012.01.024 |
0.48 |
|
| 2012 |
Wallon D, Rovelet-Lecrux A, Rousseau S, Martinaud O, Pottier C, Rollin A, Pasquier F, Le Ber I, Dubois B, Pariente J, Paquet C, Croisile B, Thomas-Anterion C, Campion D, Hannequin D. P4-097: Alzheimer's disease with age of onset less than 50 years: Genetic determinisms in sporadic cases Alzheimer's & Dementia. 8: P666-P667. DOI: 10.1016/J.Jalz.2012.05.1799 |
0.588 |
|
| 2011 |
Wallon D, Rovelet-Lecrux A, Martinaud O, Legallic S, Pottier C, Bombois S, Mackowiak M, Pasquier F, Michon A, Leber I, Dubois B, Pariente J, Paquet C, Croisile B, Thomas-Anterion C, et al. Genetics of early-onset Alzheimer disease in France Alzheimers & Dementia. 7. DOI: 10.1016/J.Jalz.2011.05.552 |
0.611 |
|
| 2010 |
Rovelet-Lecrux A, Hannequin D, Guillin O, Legallic S, Jurici S, Wallon D, Frebourg T, Campion D. Frontotemporal dementia phenotype associated with MAPT gene duplication. Journal of Alzheimer's Disease : Jad. 21: 897-902. PMID 20634582 DOI: 10.3233/Jad-2010-100441 |
0.635 |
|
| 2009 |
Rademakers R, Rovelet-Lecrux A. Recent insights into the molecular genetics of dementia. Trends in Neurosciences. 32: 451-61. PMID 19640594 DOI: 10.1016/J.Tins.2009.05.005 |
0.525 |
|
| 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 |
0.579 |
|
| 2009 |
Finch N, Baker M, Crook R, Swanson K, Kuntz K, Surtees R, Bisceglio G, Rovelet-Lecrux A, Boeve B, Petersen RC, Dickson DW, Younkin SG, Deramecourt V, Crook J, Graff-Radford NR, et al. Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members. Brain : a Journal of Neurology. 132: 583-91. PMID 19158106 DOI: 10.1093/Brain/Awn352 |
0.448 |
|
| 2009 |
Wallon D, Jurici S, Guyant-Maréchal L, Martinaud O, Laquerrière A, Rovelet-Lecrux A, Legallic S, Martin C, Bou J, Duyckaerts C, Le Ber I, Dubois B, Pasquier F, Hannequin D, Campion D. O1-1 Etat actuel des investigations dans les formes monogéniques de maladie d’Alzheimer du sujet jeune Revue Neurologique. 165: 37. DOI: 10.1016/S0035-3787(09)72584-6 |
0.515 |
|
| 2008 |
Guyant-Marechal I, Berger E, Laquerrière A, Rovelet-Lecrux A, Viennet G, Frebourg T, Rumbach L, Campion D, Hannequin D. Intrafamilial diversity of phenotype associated with app duplication. Neurology. 71: 1925-6. PMID 19047566 DOI: 10.1212/01.Wnl.0000339400.64213.56 |
0.624 |
|
| 2008 |
Dreses-Werringloer U, Lambert JC, Vingtdeux V, Zhao H, Vais H, Siebert A, Jain A, Koppel J, Rovelet-Lecrux A, Hannequin D, Pasquier F, Galimberti D, Scarpini E, Mann D, Lendon C, et al. A polymorphism in CALHM1 influences Ca2+ homeostasis, Abeta levels, and Alzheimer's disease risk. Cell. 133: 1149-61. PMID 18585350 DOI: 10.1016/J.Cell.2008.05.048 |
0.625 |
|
| 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 |
0.626 |
|
| 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, 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 |
0.633 |
|
| 2007 |
Rovelet-Lecrux A, Frebourg T, Tuominen H, Majamaa K, Campion D, Remes AM. APP locus duplication in a Finnish family with dementia and intracerebral haemorrhage. Journal of Neurology, Neurosurgery, and Psychiatry. 78: 1158-9. PMID 17442758 DOI: 10.1136/Jnnp.2006.113514 |
0.692 |
|
| 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 |
0.786 |
|
| 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 |
0.762 |
|
| Show low-probability matches. |