Enza Maria Valente - Publications

Affiliations: 
Neurogenetics Sapienza University of Rome, Roma, Lazio, Italy 

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Year Citation  Score
2016 Roosing S, Romani M, Isrie M, Rosti RO, Micalizzi A, Musaev D, Mazza T, Al-Gazali L, Altunoglu U, Boltshauser E, D'Arrigo S, De Keersmaecker B, Kayserili H, Brandenberger S, Kraoua I, ... ... Valente EM, et al. Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes. Journal of Medical Genetics. PMID 27208211 DOI: 10.1136/jmedgenet-2016-103832  0.48
2016 Torraco A, Bianchi M, Verrigni D, Gelmetti V, Riley L, Niceta M, Martinelli D, Montanari A, Guo Y, Rizza T, Diodato D, Di Nottia M, Lucarelli B, Sorrentino F, Piemonte F, ... ... Valente EM, et al. A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia. Clinical Genetics. PMID 27102574 DOI: 10.1111/cge.12790  0.48
2016 Martella G, Madeo G, Maltese M, Vanni V, Puglisi F, Ferraro E, Schirinzi T, Valente EM, Bonanni L, Shen J, Mandolesi G, Mercuri NB, Bonsi P, Pisani A. Exposure to low-dose rotenone precipitates synaptic plasticity alterations in PINK1 heterozygous knockout mice. Neurobiology of Disease. PMID 26916954 DOI: 10.1016/j.nbd.2015.12.020  0.48
2016 Kraoua I, Romani M, Tonduti D, Benrhouma H, Zorzi G, Zibordi F, Ardissone A, Gouider-Khouja N, Ben Youssef-Turki I, Nardocci N, Valente EM. Elevated aspartate aminotransferase and lactate dehydrogenase levels are a constant finding in PLA2G6-associated neurodegeneration European Journal of Neurology. 23: e24-e25. DOI: 10.1111/ene.12927  0.48
2016 Micalizzi A, Poretti A, Romani M, Ginevrino M, Mazza T, Aiello C, Zanni G, Baumgartner B, Borgatti R, Brockmann K, Camacho A, Cantalupo G, Haeusler M, Hikel C, Klein A, ... ... Valente EM, et al. Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti–Boltshauser syndrome) European Journal of Human Genetics. DOI: 10.1038/ejhg.2016.19  0.48
2016 Petrucci S, Ginevrino M, Valente EM. Phenotypic spectrum of alpha-synuclein mutations: New insights from patients and cellular models Parkinsonism and Related Disorders. 22: S16-S20. DOI: 10.1016/j.parkreldis.2015.08.015  0.48
2016 Micalizzi A, Moroni I, Ginevrino M, Biagini T, Mazza T, Romani M, Valente EM. Very mild features of dysequilibrium syndrome associated with a novel VLDLR missense mutation Neurogenetics. 17: 191-195. DOI: 10.1007/s10048-016-0488-y  0.48
2015 Mormina E, Briguglio M, Morabito R, Arrigo A, Marino S, Di Rosa G, Micalizzi A, Valente EM, Salpietro V, Vinci SL, Longo M, Granata F. A rare case of cerebellar agenesis: a probabilistic Constrained Spherical Deconvolution tractographic study. Brain Imaging and Behavior. PMID 25832852 DOI: 10.1007/s11682-015-9377-5  0.48
2015 Zanellati MC, Monti V, Barzaghi C, Reale C, Nardocci N, Albanese A, Valente EM, Ghezzi D, Garavaglia B. Mitochondrial dysfunction in Parkinson disease: evidence in mutant PARK2 fibroblasts. Frontiers in Genetics. 6: 78. PMID 25815004 DOI: 10.3389/fgene.2015.00078  0.48
2015 Romani M, Mancini F, Micalizzi A, Poretti A, Miccinilli E, Accorsi P, Avola E, Bertini E, Borgatti R, Romaniello R, Ceylaner S, Coppola G, D'Arrigo S, Giordano L, Janecke AR, ... ... Valente EM, et al. Oral-facial-digital syndrome type VI: is C5orf42 really the major gene? Human Genetics. 134: 123-6. PMID 25407461 DOI: 10.1007/s00439-014-1508-3  0.48
2015 Romani M, Kraoua I, Micalizzi A, Klaa H, Benrhouma H, Drissi C, Turki I, Castellana S, Mazza T, Valente EM, Gouider-Khouja N. Infantile and childhood onset PLA2G6-associated neurodegeneration in a large North African cohort European Journal of Neurology. 22: 178-186. PMID 25164370 DOI: 10.1111/ene.12552  0.48
2015 De Rosa P, Marini ES, Gelmetti V, Valente EM. Candidate genes for Parkinson disease: Lessons from pathogenesis Clinica Chimica Acta. 449: 68-76. DOI: 10.1016/j.cca.2015.04.042  0.48
2014 Ricciardi L, Petrucci S, Guidubaldi A, Ialongo T, Serra L, Ferraris A, Spanò B, Bozzali M, Valente EM, Bentivoglio AR. Phenotypic variability of PINK1 expression: 12 Years' clinical follow-up of two Italian families Movement Disorders. 29: 1561-1566. PMID 25164310 DOI: 10.1002/mds.25994  0.48
2014 Beck BB, Phillips JB, Bartram MP, Wegner J, Thoenes M, Pannes A, Sampson J, Heller R, Göbel H, Koerber F, Neugebauer A, Hedergott A, Nürnberg G, Nürnberg P, Thiele H, ... ... Valente EM, et al. Mutation of POC1B in a severe syndromic retinal ciliopathy. Human Mutation. 35: 1153-62. PMID 25044745 DOI: 10.1002/humu.22618  0.48
2014 Romani M, Micalizzi A, Kraoua I, Dotti MT, Cavallin M, Sztriha L, Ruta R, Mancini F, Mazza T, Castellana S, Hanene B, Carluccio MA, Darra F, Máté A, Zimmermann A, ... ... Valente EM, et al. Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome. Orphanet Journal of Rare Diseases. 9: 72. PMID 24886560 DOI: 10.1186/1750-1172-9-72  0.48
2014 Poretti A, Boltshauser E, Valente EM. The molar tooth sign is pathognomonic for joubert syndrome! Pediatric Neurology. 50. PMID 24731480 DOI: 10.1016/j.pediatrneurol.2013.11.003  0.48
2014 Mory A, Dagan E, Shahor I, Mandel H, Illi B, Zolotushko J, Kurolap A, Chechik E, Valente EM, Amselem S, Gershoni-Baruch R. Kohlschutter-tonz syndrome: Clinical and genetic insights gained from 16 cases deriving from a close-knit village in Northern Israel Pediatric Neurology. 50: 421-426. PMID 24630287 DOI: 10.1016/j.pediatrneurol.2014.01.006  0.48
2014 Zanni G, Barresi S, Cohen R, Specchio N, Basel-Vanagaite L, Valente EM, Shuper A, Vigevano F, Bertini E. A novel mutation in the endosomal Na+/H+ exchanger NHE6 (SLC9A6) causes Christianson syndrome with electrical status epilepticus during slow-wave sleep (ESES). Epilepsy Research. 108: 811-5. PMID 24630051 DOI: 10.1016/j.eplepsyres.2014.02.009  0.48
2014 Romani S, Illi B, De Mori R, Savino M, Gleeson JG, Valente EM. The ciliary proteins Meckelin and Jouberin are required for retinoic acid-dependent neural differentiation of mouse embryonic stem cells. Differentiation; Research in Biological Diversity. 87: 134-46. PMID 24613594 DOI: 10.1016/j.diff.2014.02.005  0.48
2014 Bonanni L, Onofrj M, Valente EM, Manzoli L, De Angelis MV, Capasso M, Thomas A. Recurrent and fatal akinetic crisis in genetic-mitochondrial parkinsonisms European Journal of Neurology. 21: 1242-1246. PMID 24471704 DOI: 10.1111/ene.12364  0.48
2014 Lohmann K, Schmidt A, Schillert A, Winkler S, Albanese A, Baas F, Bentivoglio AR, Borngräber F, Brüggemann N, Defazio G, Del Sorbo F, Deuschl G, Edwards MJ, Gasser T, Gómez-Garre P, ... ... Valente EM, et al. Genome-wide association study in musician's dystonia: a risk variant at the arylsulfatase G locus? Movement Disorders : Official Journal of the Movement Disorder Society. 29: 921-7. PMID 24375517 DOI: 10.1002/mds.25791  0.48
2014 Valente EM, Rosti RO, Gibbs E, Gleeson JG. Primary cilia in neurodevelopmental disorders. Nature Reviews. Neurology. 10: 27-36. PMID 24296655 DOI: 10.1038/nrneurol.2013.247  0.48
2014 Madeo G, Schirinzi T, Martella G, Latagliata EC, Puglisi F, Shen J, Valente EM, Federici M, Mercuri NB, Puglisi-Allegra S, Bonsi P, Pisani A. PINK1 heterozygous mutations induce subtle alterations in dopamine-dependent synaptic plasticity. Movement Disorders : Official Journal of the Movement Disorder Society. 29: 41-53. PMID 24167038 DOI: 10.1002/mds.25724  0.48
2014 Thomas S, Wright KJ, Le Corre S, Micalizzi A, Romani M, Abhyankar A, Saada J, Perrault I, Amiel J, Litzler J, Filhol E, Elkhartoufi N, Kwong M, Casanova JL, Boddaert N, ... ... Valente EM, et al. A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium. Human Mutation. 35: 137-46. PMID 24166846 DOI: 10.1002/humu.22470  0.48
2014 Poretti A, Häusler M, Von Moers A, Baumgartner B, Zerres K, Klein A, Aiello C, Moro F, Zanni G, Santorelli FM, Huisman TAGM, Weis J, Valente EM, Bertini E, Boltshauser E. Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: A new disease? Cerebellum. 13: 79-88. PMID 24013853 DOI: 10.1007/s12311-013-0521-8  0.48
2014 Heckman MG, Elbaz A, Soto-Ortolaza AI, Serie DJ, Aasly JO, Annesi G, Auburger G, Bacon JA, Boczarska-Jedynak M, Bozi M, Brighina L, Chartier-Harlin MC, Dardiotis E, Destée A, Ferrarese C, ... ... Valente EM, et al. Protective effect of LRRK2 p.R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variants. Neurobiology of Aging. 35: 266.e5-14. PMID 23962496 DOI: 10.1016/j.neurobiolaging.2013.07.013  0.48
2014 Petrucci S, Arena G, Valente EM. Genetics and Molecular Biology of Parkinson Disease Movement Disorders: Genetics and Models: Second Edition. 243-257. DOI: 10.1016/B978-0-12-405195-9.00015-9  0.32
2014 Petrucci S, Consoli F, Valente EM. Parkinson disease genetics: A “continuum” from mendelian to multifactorial inheritance Current Molecular Medicine. 14: 1079-1088.  0.48
2013 Heckman MG, Soto-Ortolaza AI, Aasly JO, Abahuni N, Annesi G, Bacon JA, Bardien S, Bozi M, Brice A, Brighina L, Carr J, Chartier-Harlin MC, Dardiotis E, Dickson DW, Diehl NN, ... ... Valente EM, et al. Population-specific frequencies for LRRK2 susceptibility variants in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium. Movement Disorders : Official Journal of the Movement Disorder Society. 28: 1740-4. PMID 23913756 DOI: 10.1002/mds.25600  0.48
2013 Guglielmi V, Vattemi G, Gualandi F, Voermans NC, Marini M, Scotton C, Pegoraro E, Oosterhof A, Kósa M, Zádor E, Valente EM, De Grandis D, Neri M, Codemo V, Novelli A, et al. SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers. Molecular Genetics and Metabolism. 110: 162-9. PMID 23911890 DOI: 10.1016/j.ymgme.2013.07.015  0.48
2013 Romani M, Micalizzi A, Valente EM. Joubert syndrome: Congenital cerebellar ataxia with the molar tooth The Lancet Neurology. 12: 894-905. PMID 23870701 DOI: 10.1016/S1474-4422(13)70136-4  0.48
2013 Elia AE, Petrucci S, Fasano A, Guidi M, Valbonesi S, Bernardini L, Consoli F, Ferraris A, Albanese A, Valente EM. Alpha-synuclein gene duplication: marked intrafamilial variability in two novel pedigrees. Movement Disorders : Official Journal of the Movement Disorder Society. 28: 813-7. PMID 23744550 DOI: 10.1002/mds.25518  0.48
2013 Ferraris A, Bernardini L, Sabolic Avramovska V, Zanni G, Loddo S, Sukarova-Angelovska E, Parisi V, Capalbo A, Tumini S, Travaglini L, Mancini F, Duma F, Barresi S, Novelli A, Mercuri E, ... ... Valente EM, et al. Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions. Orphanet Journal of Rare Diseases. 8: 75. PMID 23679990 DOI: 10.1186/1750-1172-8-75  0.48
2013 Carecchio M, Magliozzi M, Copetti M, Ferraris A, Bernardini L, Bonetti M, Defazio G, Edwards MJ, Torrente I, Pellegrini F, Comi C, Bhatia KP, Valente EM. Defining the epsilon-sarcoglycan (SGCE) gene phenotypic signature in myoclonus-dystonia: A reappraisal of genetic testing criteria Movement Disorders. 28: 787-794. PMID 23677909 DOI: 10.1002/mds.25506  0.48
2013 Darbro BW, Mahajan VB, Gakhar L, Skeie JM, Campbell E, Wu S, Bing X, Millen KJ, Dobyns WB, Kessler JA, Jalali A, Cremer J, Segre A, Manak JR, Aldinger KA, ... ... Valente EM, et al. Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant Dandy-Walker malformation and occipital cephaloceles. Human Mutation. 34: 1075-9. PMID 23674478 DOI: 10.1002/humu.22351  0.48
2013 Valente EM, Dallapiccola B, Bertini E. Joubert syndrome and related disorders Handbook of Clinical Neurology. 113: 1879-1888. PMID 23622411 DOI: 10.1016/B978-0-444-59565-2.00058-7  0.48
2013 Arena G, Gelmetti V, Torosantucci L, Vignone D, Lamorte G, De Rosa P, Cilia E, Jonas EA, Valente EM. PINK1 protects against cell death induced by mitochondrial depolarization, by phosphorylating Bcl-xL and impairing its pro-apoptotic cleavage. Cell Death and Differentiation. 20: 920-30. PMID 23519076 DOI: 10.1038/cdd.2013.19  0.48
2013 Kojovic M, Pareés I, Lampreia T, Pienczk-Reclawowicz K, Xiromerisiou G, Rubio-Agusti I, Kramberger M, Carecchio M, Alazami AM, Brancati F, Slawek J, Pirtosek Z, Valente EM, Alkuraya FS, Edwards MJ, et al. The syndrome of deafness-dystonia: clinical and genetic heterogeneity. Movement Disorders : Official Journal of the Movement Disorder Society. 28: 795-803. PMID 23418071 DOI: 10.1002/mds.25394  0.48
2013 Valente EM, Brancati F, Boltshauser E, Dallapiccola B. Clinical utility gene card for: Joubert syndrome - Update 2013 European Journal of Human Genetics. 21: 1185. PMID 23403901 DOI: 10.1038/ejhg.2013.10  0.48
2013 Onofrj M, Varanese S, Bonanni L, Taylor JP, Antonini A, Valente EM, Petrucci S, Stocchi F, Thomas A, Perfetti B. Cohort study of prevalence and phenomenology of tremor in dementia with Lewy bodies. Journal of Neurology. 260: 1731-42. PMID 23400498 DOI: 10.1007/s00415-013-6853-y  0.48
2013 Travaglini L, Brancati F, Silhavy J, Iannicelli M, Nickerson E, Elkhartoufi N, Scott E, Spencer E, Gabriel S, Thomas S, Ben-Zeev B, Bertini E, Boltshauser E, Chaouch M, Cilio MR, ... ... Valente EM, et al. Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. European Journal of Human Genetics : Ejhg. 21: 1074-8. PMID 23386033 DOI: 10.1038/ejhg.2012.305  0.48
2013 Quattrocchi CC, Zanni G, Napolitano A, Longo D, Cordelli DM, Barresi S, Randisi F, Valente EM, Verdolotti T, Genovese E, Specchio N, Vitiello G, Spiegel R, Bertini E, Bernardi B. Conventional magnetic resonance imaging and diffusion tensor imaging studies in children with novel GPR56 mutations: further delineation of a cobblestone-like phenotype. Neurogenetics. 14: 77-83. PMID 23274687 DOI: 10.1007/s10048-012-0352-7  0.48
2013 Sheerin UM, Stamelou M, Charlesworth G, Shiner T, Spacey S, Valente EM, Wood NW, Bhatia KP. Migraine with aura as the predominant phenotype in a family with a PRRT2 mutation Journal of Neurology. 260: 656-660. PMID 23180180 DOI: 10.1007/s00415-012-6747-4  0.48
2013 Castellana S, Romani M, Valente EM, Mazza T. A solid quality-control analysis of AB solid short-read sequencing data Briefings in Bioinformatics. 14: 684-695. PMID 22877770 DOI: 10.1093/bib/bbs048  0.48
2013 Stefani A, Marzetti F, Pierantozzi M, Petrucci S, Olivola E, Galati S, Bassi MS, Imbriani P, Valente EM, Pastore FS. Successful subthalamic stimulation, but levodopa-induced dystonia, in a genetic Parkinson's disease Neurological Sciences. 34: 383-386. PMID 22437494 DOI: 10.1007/s10072-012-1014-0  0.48
2013 Petrucci S, Valente EM. Genetic issues in the diagnosis of dystonias Frontiers in Neurology. 4. DOI: 10.3389/fneur.2013.00034  0.48
2013 Petrucci S, Valente EM. Novel genes and novel pathogenetic mechanisms in adult-onset primary dystonia Movement Disorders. 28: 440. DOI: 10.1002/mds.25412  0.48
2012 Lenzi P, Marongiu R, Falleni A, Gelmetti V, Busceti CL, Michiorri S, Valente EM, Fornai F. A subcellular analysis of genetic modulation of PINK1 on mitochondrial alterations, autophagy and cell death. Archives Italiennes De Biologie. 150: 194-217. PMID 23165879  0.48
2012 Gardiner AR, Bhatia KP, Stamelou M, Dale RC, Kurian MA, Schneider SA, Wali GM, Counihan T, Schapira AH, Spacey SD, Valente EM, Silveira-Moriyama L, Teive HA, Raskin S, Sander JW, et al. PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine. Neurology. 79: 2115-21. PMID 23077024 DOI: 10.1212/WNL.0b013e3182752c5a  0.48
2012 Palada V, Stiern S, Glöckle N, Gómez-Garre P, Carrillo F, Mir P, Szczaluba K, Tinazzi M, Ajena D, Romani M, Valente EM, Müller U, Bauer P, Riess O, Ott T, et al. Lack of sequence variations in THAP1 gene and THAP1-binding sites in TOR1A promoter of DYT1 patients. Movement Disorders : Official Journal of the Movement Disorder Society. 27: 917. PMID 22508326 DOI: 10.1002/mds.24974  0.48
2012 Mory A, Dagan E, Illi B, Duquesnoy P, Mordechai S, Shahor I, Romani S, Hawash-Moustafa N, Mandel H, Valente EM, Amselem S, Gershoni-Baruch R. A nonsense mutation in the human homolog of drosophila rogdi causes Kohlschutter-Tonz syndrome American Journal of Human Genetics. 90: 708-714. PMID 22482807 DOI: 10.1016/j.ajhg.2012.03.005  0.48
2012 Del Sorbo F, Brancati F, De Joanna G, Valente EM, Lauria G, Albanese A. Primary focal hyperhidrosis in a new family not linked to known loci Dermatology. 223: 335-342. PMID 22237135 DOI: 10.1159/000334936  0.48
2012 Poretti A, Vitiello G, Hennekam RC, Arrigoni F, Bertini E, Borgatti R, Brancati F, D'Arrigo S, Faravelli F, Giordano L, Huisman TA, Iannicelli M, Kluger G, Kyllerman M, Landgren M, ... ... Valente EM, et al. Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI. Orphanet Journal of Rare Diseases. 7: 4. PMID 22236771 DOI: 10.1186/1750-1172-7-4  0.48
2012 Valente EM, Arena G, Torosantucci L, Gelmetti V. Molecular pathways in sporadic PD Parkinsonism and Related Disorders. 18. PMID 22166460  0.48
2012 Terracciano A, Renaldo F, Zanni G, D'Amico A, Pastore A, Barresi S, Valente EM, Piemonte F, Tozzi G, Carrozzo R, Valeriani M, Boldrini R, Mercuri E, Santorelli FM, Bertini E. The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children European Journal of Paediatric Neurology. 16: 248-256. PMID 21873089 DOI: 10.1016/j.ejpn.2011.07.016  0.48
2011 Chartier-Harlin MC, Dachsel JC, Vilariño-Güell C, Lincoln SJ, Leprêtre F, Hulihan MM, Kachergus J, Milnerwood AJ, Tapia L, Song MS, Le Rhun E, Mutez E, Larvor L, Duflot A, Vanbesien-Mailliot C, ... ... Valente EM, et al. Translation initiator EIF4G1 mutations in familial Parkinson disease. American Journal of Human Genetics. 89: 398-406. PMID 21907011 DOI: 10.1016/j.ajhg.2011.08.009  0.48
2011 Ross OA, Soto-Ortolaza AI, Heckman MG, Aasly JO, Abahuni N, Annesi G, Bacon JA, Bardien S, Bozi M, Brice A, Brighina L, Van Broeckhoven C, Carr J, Chartier-Harlin MC, Dardiotis E, ... ... Valente EM, et al. Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study. The Lancet. Neurology. 10: 898-908. PMID 21885347 DOI: 10.1016/S1474-4422(11)70175-2  0.48
2011 Briguglio M, Pinelli L, Giordano L, Ferraris A, German E, Micheletti S, Severino M, Bernardini L, Loddo S, Tortorella G, Ormitti F, Gasparotti R, Rossi A, Valente EM. Pontine tegmental cap dysplasia: Developmental and cognitive outcome in three adolescent patients Orphanet Journal of Rare Diseases. 6. PMID 21651769 DOI: 10.1186/1750-1172-6-36  0.48
2011 Zanni G, Barresi S, Travaglini L, Bernardini L, Rizza T, Digilio MC, Mercuri E, Cianfarani S, Valeriani M, Ferraris A, Da Sacco L, Novelli A, Valente EM, Dallapiccola B, Bertini ES. FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy-Walker malformation carrying a de novo 8p deletion Neurogenetics. 12: 241-245. PMID 21484435 DOI: 10.1007/s10048-011-0283-8  0.48
2011 Elbaz A, Ross OA, Ioannidis JP, Soto-Ortolaza AI, Moisan F, Aasly J, Annesi G, Bozi M, Brighina L, Chartier-Harlin MC, Destée A, Ferrarese C, Ferraris A, Gibson JM, Gispert S, ... ... Valente EM, et al. Independent and joint effects of the MAPT and SNCA genes in Parkinson disease. Annals of Neurology. 69: 778-92. PMID 21391235 DOI: 10.1002/ana.22321  0.48
2011 Lo HP, Bertini E, Mirabella M, Domazetovska A, Dale RC, Petrini S, D'Amico A, Valente EM, Barresi R, Roberts M, Tozzi G, Tasca G, Cooper ST, Straub V, North KN. Mosaic caveolin-3 expression in acquired rippling muscle disease without evidence of myasthenia gravis or acetylcholine receptor autoantibodies. Neuromuscular Disorders : Nmd. 21: 194-203. PMID 21295981 DOI: 10.1016/j.nmd.2010.11.015  0.48
2011 Modoni A, D'Amico A, Dallapiccola B, Mereu ML, Merlini L, Pagliarani S, Pisaneschi E, Silvestri G, Torrente I, Valente EM, Lo Monaco M. Low-rate repetitive nerve stimulation protocol in an Italian cohort of patients affected by recessive myotonia congenita. Journal of Clinical Neurophysiology : Official Publication of the American Electroencephalographic Society. 28: 39-44. PMID 21221019 DOI: 10.1097/WNP.0b013e31820510d7  0.48
2011 Valente EM, Albanese A. "Gluing" phenotypes together: The case of GLUT1 Neurology. 77: 934-935. DOI: 10.1212/WNL.0b013e31822cfcf6  0.48
2010 Valente EM, Logan CV, Mougou-Zerelli S, Lee JH, Silhavy JL, Brancati F, Iannicelli M, Travaglini L, Romani S, Illi B, Adams M, Szymanska K, Mazzotta A, Lee JE, Tolentino JC, et al. Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nature Genetics. 42: 619-25. PMID 20512146 DOI: 10.1038/ng.594  0.48
2010 Iannicelli M, Brancati F, Mougou-Zerelli S, Mazzotta A, Thomas S, Elkhartoufi N, Travaglini L, Gomes C, Ardissino GL, Bertini E, Boltshauser E, Castorina P, D'Arrigo S, Fischetto R, Leroy B, ... ... Valente EM, et al. Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. Human Mutation. 31: E1319-31. PMID 20232449 DOI: 10.1002/humu.21239  0.48
2010 Louie CM, Caridi G, Lopes VS, Brancati F, Kispert A, Lancaster MA, Schlossman AM, Otto EA, Leitges M, Gröne HJ, Lopez I, Gudiseva HV, O'Toole JF, Vallespin E, Ayyagari R, ... ... Valente EM, et al. AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis. Nature Genetics. 42: 175-80. PMID 20081859 DOI: 10.1038/ng.519  0.48
2010 Michiorri S, Gelmetti V, Giarda E, Lombardi F, Romano F, Marongiu R, Nerini-Molteni S, Sale P, Vago R, Arena G, Torosantucci L, Cassina L, Russo MA, Dallapiccola B, Valente EM, et al. The Parkinson-associated protein PINK1 interacts with Beclin1 and promotes autophagy. Cell Death and Differentiation. 17: 962-74. PMID 20057503 DOI: 10.1038/cdd.2009.200  0.48
2010 Walter M, Bonin M, Pullman RS, Valente EM, Loi M, Gambarin M, Raymond D, Tinazzi M, Kamm C, Glöckle N, Poths S, Gasser T, Bressman SB, Klein C, Ozelius LJ, et al. Expression profiling in peripheral blood reveals signature for penetrance in DYT1 dystonia Neurobiology of Disease. 38: 192-200. PMID 20053375 DOI: 10.1016/j.nbd.2009.12.019  0.48
2010 Sturm V, Leiba H, Menke MN, Valente EM, Poretti A, Landau K, Boltshauser E. Ophthalmological findings in Joubert syndrome. Eye (London, England). 24: 222-5. PMID 19461662 DOI: 10.1038/eye.2009.116  0.48
2010 Valente EM, Albanese A. Advances in the genetics of primary torsion dystonia F1000 Biology Reports. 2. DOI: 10.3410/B2-41  0.48
2009 Poretti A, Dietrich Alber F, Brancati F, Dallapiccola B, Valente EM, Boltshauser E. Normal cognitive functions in Joubert syndrome Neuropediatrics. 40: 287-290. PMID 20446224 DOI: 10.1055/s-0030-1249630  0.48
2009 Bonetti M, Barzaghi C, Brancati F, Ferraris A, Bellacchio E, Giovanetti A, Ialongo T, Zorzi G, Piano C, Petracca M, Albanese A, Nardocci N, Dallapiccola B, Bentivoglio AR, Garavaglia B, ... Valente EM, et al. Mutation screening of the DYT6/THAP1 gene in Italy. Movement Disorders : Official Journal of the Movement Disorder Society. 24: 2424-7. PMID 19908325 DOI: 10.1002/mds.22861  0.48
2009 Ferraris A, Ialongo T, Passali GC, Pellecchia MT, Brusa L, Laruffa M, Guidubaldi A, Paludetti G, Albanese A, Barone P, Dallapiccola B, Valente EM, Bentivoglio AR. Olfactory dysfunction in Parkinsonism caused by PINK1 mutations. Movement Disorders : Official Journal of the Movement Disorder Society. 24: 2350-7. PMID 19890973 DOI: 10.1002/mds.22816  0.48
2009 Mougou-Zerelli S, Thomas S, Szenker E, Audollent S, Elkhartoufi N, Babarit C, Romano S, Salomon R, Amiel J, Esculpavit C, Gonzales M, Escudier E, Leheup B, Loget P, Odent S, ... ... Valente EM, et al. CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation. Human Mutation. 30: 1574-82. PMID 19777577 DOI: 10.1002/humu.21116  0.48
2009 Travaglini L, Brancati F, Attie-Bitach T, Audollent S, Bertini E, Kaplan J, Perrault I, Iannicelli M, Mancuso B, Rigoli L, Rozet JM, Swistun D, Tolentino J, Dallapiccola B, Gleeson JG, ... Valente EM, et al. Expanding CEP290 mutational spectrum in ciliopathies. American Journal of Medical Genetics. Part A. 149: 2173-80. PMID 19764032 DOI: 10.1002/ajmg.a.33025  0.48
2009 Bielas SL, Silhavy JL, Brancati F, Kisseleva MV, Al-Gazali L, Sztriha L, Bayoumi RA, Zaki MS, Abdel-Aleem A, Rosti RO, Kayserili H, Swistun D, Scott LC, Bertini E, Boltshauser E, ... ... Valente EM, et al. Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. Nature Genetics. 41: 1032-6. PMID 19668216 DOI: 10.1038/ng.423  0.48
2009 Bonetti M, Ferraris A, Petracca M, Bentivoglio AR, Dallapiccola B, Valente EM. GIGYF2 variants are not associated with Parkinson's disease in Italy. Movement Disorders : Official Journal of the Movement Disorder Society. 24: 1867-8; author reply. PMID 19562763 DOI: 10.1002/mds.22640  0.48
2009 Giordano L, Vignoli A, Pinelli L, Brancati F, Accorsi P, Faravelli F, Gasparotti R, Granata T, Giaccone G, Inverardi F, Frassoni C, Dallapiccola B, Valente EM, Spreafico R. Joubert syndrome with bilateral polymicrogyria: clinical and neuropathological findings in two brothers. American Journal of Medical Genetics. Part A. 149: 1511-5. PMID 19533793 DOI: 10.1002/ajmg.a.32936  0.48
2009 Martino D, Muglia M, Abbruzzese G, Berardelli A, Girlanda P, Liguori M, Livrea P, Quattrone A, Roselli F, Sprovieri T, Valente EM, Defazio G. Brain-derived neurotrophic factor and risk for primary adult-onset cranial-cervical dystonia. European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies. 16: 949-52. PMID 19473353 DOI: 10.1111/j.1468-1331.2009.02633.x  0.48
2009 Defazio G, Matarin M, Peckham EL, Martino D, Valente EM, Singleton A, Crawley A, Aniello MS, Brancati F, Abbruzzese G, Girlanda P, Livrea P, Hallett M, Berardelli A. The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm. Movement Disorders : Official Journal of the Movement Disorder Society. 24: 613-6. PMID 19202559 DOI: 10.1002/mds.22471  0.48
2009 Marongiu R, Spencer B, Crews L, Adame A, Patrick C, Trejo M, Dallapiccola B, Valente EM, Masliah E. Mutant Pink1 induces mitochondrial dysfunction in a neuronal cell model of Parkinson's disease by disturbing calcium flux. Journal of Neurochemistry. 108: 1561-74. PMID 19166511 DOI: 10.1111/j.1471-4159.2009.05932.x  0.48
2009 Brancati F, Iannicelli M, Travaglini L, Mazzotta A, Bertini E, Boltshauser E, D'Arrigo S, Emma F, Fazzi E, Gallizzi R, Gentile M, Loncarevic D, Mejaski-Bosnjak V, Pantaleoni C, Rigoli L, ... ... Valente EM, et al. MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. Human Mutation. 30: E432-42. PMID 19058225 DOI: 10.1002/humu.20924  0.48
2009 Valente EM, Michiorri S, Arena G, Gelmetti V. PINK1: One protein, multiple neuroprotective functions Future Neurology. 4: 575-590. DOI: 10.2217/fnl.09.39  0.48
2009 Ferraris A, Valente EM, Bentivoglio AR. Prevalence and phenotypic spectrum of PINK1 mutations in Parkinson's disease European Neurological Review. 4: 40-43.  0.48
2008 Valente EM, Ferraris A, Dallapiccola B. Genetic testing for paediatric neurological disorders The Lancet Neurology. 7: 1113-1126. PMID 19007736 DOI: 10.1016/S1474-4422(08)70257-6  0.48
2008 Koukouni V, Valente EM, Cordivari C, Bhatia KP, Quinn NP. Unusual familial presentation of epsilon-sarcoglycan gene mutation with falls and writer's cramp Movement Disorders. 23: 1913-1915. PMID 18702114 DOI: 10.1002/mds.21935  0.48
2008 Cantagrel V, Silhavy JL, Bielas SL, Swistun D, Marsh SE, Bertrand JY, Audollent S, Attié-Bitach T, Holden KR, Dobyns WB, Traver D, Al-Gazali L, Ali BR, Lindner TH, Caspary T, ... ... Valente EM, et al. Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. American Journal of Human Genetics. 83: 170-9. PMID 18674751 DOI: 10.1016/j.ajhg.2008.06.023  0.48
2008 Fiorio M, Valente EM, Gambarin M, Bentivoglio AR, Ialongo T, Albanese A, Barone P, Pellecchia MT, Brancati F, Moretto G, Fiaschi A, Tinazzi M. Subclinical sensory abnormalities in unaffected PINK1 heterozygotes Journal of Neurology. 255: 1372-1377. PMID 18584234 DOI: 10.1007/s00415-008-0923-6  0.48
2008 Fiorio M, Gambarin M, Defazio G, Valente EM, Stanzani C, Moretto G, Loi M, Soliveri P, Nardocci N, Albanese A, Fiaschi A, Tinazzi M. Impaired body movement representation in DYT1 mutation carriers Clinical Neurophysiology. 119: 1864-1869. PMID 18571468 DOI: 10.1016/j.clinph.2008.04.292  0.48
2008 Revencu N, Boon LM, Mulliken JB, Enjolras O, Cordisco MR, Burrows PE, Clapuyt P, Hammer F, Dubois J, Baselga E, Brancati F, Carder R, Quintal JM, Dallapiccola B, Fischer G, ... ... Valente EM, et al. Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. Human Mutation. 29: 959-65. PMID 18446851 DOI: 10.1002/humu.20746  0.48
2008 Marongiu R, Ferraris A, Ialongo T, Michiorri S, Soleti F, Ferrari F, Elia AE, Ghezzi D, Albanese A, Altavista MC, Antonini A, Barone P, Brusa L, Cortelli P, Martinelli P, ... ... Valente EM, et al. PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum. Human Mutation. 29: 565. PMID 18330912 DOI: 10.1002/humu.20719  0.48
2008 Gelmetti V, Ferraris A, Brusa L, Romano F, Lombardi F, Barzaghi C, Stanzione P, Garavaglia B, Dallapiccola B, Valente EM. Late onset sporadic Parkinson's disease caused by PINK1 mutations: clinical and functional study. Movement Disorders : Official Journal of the Movement Disorder Society. 23: 881-5. PMID 18307263 DOI: 10.1002/mds.21960  0.48
2008 Valente EM, Brancati F, Dallapiccola B. Genotypes and phenotypes of Joubert syndrome and related disorders European Journal of Medical Genetics. 51: 1-23. PMID 18164675 DOI: 10.1016/j.ejmg.2007.11.003  0.48
2007 Scarciolla O, Brancati F, Valente EM, Ferraris A, De Angelis MV, Valbonesi S, Garavaglia B, Uncini A, Palka G, Stuppia L, Dallapiccola B. Multiplex ligation-dependent probe amplification assay for simultaneous detection of Parkinson's disease gene rearrangements Movement Disorders. 22: 2274-2278. PMID 17914726 DOI: 10.1002/mds.21532  0.48
2007 Poretti A, Boltshauser E, Loenneker T, Valente EM, Brancati F, Il'Yasov K, Huisman TAGM. Diffusion tensor imaging in Joubert syndrome American Journal of Neuroradiology. 28: 1929-1933. PMID 17898198 DOI: 10.3174/ajnr.A0703  0.48
2007 Simonelli F, Ziviello C, Testa F, Rossi S, Fazzi E, Bianchi PE, Fossarello M, Signorini S, Bertone C, Galantuomo S, Brancati F, Valente EM, Ciccodicola A, Rinaldi E, Auricchio A, et al. Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. Investigative Ophthalmology & Visual Science. 48: 4284-90. PMID 17724218 DOI: 10.1167/iovs.07-0068  0.48
2007 Valente EM, Ferraris A. Heterozygous mutations in genes causing parkinsonism: monogenic disorders go complex Lancet Neurology. 6: 576-578. PMID 17582354 DOI: 10.1016/S1474-4422(07)70158-8  0.48
2007 Brancati F, Barrano G, Silhavy JL, Marsh SE, Travaglini L, Bielas SL, Amorini M, Zablocka D, Kayserili H, Al-Gazali L, Bertini E, Boltshauser E, D'Hooghe M, Fazzi E, Fenerci EY, ... ... Valente EM, et al. CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. American Journal of Human Genetics. 81: 104-13. PMID 17564967 DOI: 10.1086/519026  0.48
2007 Galli M, Cimolin V, Valente EM, Crivellini M, Ialongo T, Albertini G. Computerized gait analysis of botulinum toxin treatment in children with cerebral palsy Disability and Rehabilitation. 29: 659-664. PMID 17453987 DOI: 10.1080/09638280600948136  0.48
2007 Marongiu R, Brancati F, Antonini A, Ialongo T, Ceccarini C, Scarciolla O, Capalbo A, Benti R, Pezzoli G, Dallapiccola B, Goldwurm S, Valente EM. Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum. Human Mutation. 28: 98. PMID 17154281 DOI: 10.1002/humu.9472  0.48
2007 Clarimon J, Brancati F, Peckham E, Valente EM, Dallapiccola B, Abruzzese G, Girlanda P, Defazio G, Berardelli A, Hallett M, Singleton AB. Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm. Movement Disorders : Official Journal of the Movement Disorder Society. 22: 162-6. PMID 17133500 DOI: 10.1002/mds.21182  0.48
2007 Fiorio M, Gambarin M, Valente EM, Liberini P, Loi M, Cossu G, Moretto G, Bhatia KP, Defazio G, Aglioti SM, Fiaschi A, Tinazzi M. Defective temporal processing of sensory stimuli in DYT1 mutation carriers: a new endophenotype of dystonia? Brain : a Journal of Neurology. 130: 134-42. PMID 17105745 DOI: 10.1093/brain/awl283  0.48
2007 Valente EM, Brancati F, Dallapiccola B. The expanding joubert spectrum Neuroradiology Journal. 20: 421-425.  0.48
2006 Cox JJ, Reimann F, Nicholas AK, Thornton G, Roberts E, Springell K, Karbani G, Jafri H, Mannan J, Raashid Y, Al-Gazali L, Hamamy H, Valente EM, Gorman S, Williams R, et al. An SCN9A channelopathy causes congenital inability to experience pain. Nature. 444: 894-8. PMID 17167479 DOI: 10.1038/nature05413  0.48
2006 Caridi G, Dagnino M, Rossi A, Valente EM, Bertini E, Fazzi E, Emma F, Murer L, Verrina E, Ghiggeri GM. Nephronophthisis type 1 deletion syndrome with neurological symptoms: Prevalence and significance of the association Kidney International. 70: 1342-1347. PMID 16900087 DOI: 10.1038/sj.ki.5001768  0.48
2006 Gambarin M, Valente EM, Liberini P, Barrano G, Bonizzato A, Padovani A, Moretto G, Fiorio M, Dallapiccola B, Smania N, Fiashi A, Tinazzi M. Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia Movement Disorders. 21: 1782-1784. PMID 16874761 DOI: 10.1002/mds.21056  0.48
2006 Criscuolo C, Volpe G, De Rosa A, Varrone A, Marongiu R, Mancini P, Salvatore E, Dallapiccola B, Filla A, Valente EM, De Michele G. PINK1 homozygous W437X mutation in a patient with apparent dominant transmission of parkinsonism. Movement Disorders : Official Journal of the Movement Disorder Society. 21: 1265-7. PMID 16700027 DOI: 10.1002/mds.20933  0.48
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, 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  0.48
2006 Valente EM, Silhavy JL, Brancati F, Barrano G, Krishnaswami SR, Castori M, Lancaster MA, Boltshauser E, Boccone L, Al-Gazali L, Fazzi E, Signorini S, Louie CM, Bellacchio E, et al. Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. Nature Genetics. 38: 623-5. PMID 16682970 DOI: 10.1038/ng1805  0.48
2006 Marongiu R, Ghezzi D, Ialongo T, Soleti F, Elia A, Cavone S, Albanese A, Altavista MC, Barone P, Brusa L, Cortelli P, Petrozzi L, Scaglione C, Stanzione P, Tinazzi M, ... ... Valente EM, et al. Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's disease. Movement Disorders : Official Journal of the Movement Disorder Society. 21: 1232-5. PMID 16622859 DOI: 10.1002/mds.20890  0.48
2006 Valente EM, Brancati F, Silhavy JL, Castori M, Marsh SE, Barrano G, Bertini E, Boltshauser E, Zaki MS, Abdel-Aleem A, Abdel-Salam GM, Bellacchio E, Battini R, Cruse RP, Dobyns WB, et al. AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. Annals of Neurology. 59: 527-34. PMID 16453322 DOI: 10.1002/ana.20749  0.48
2006 Defazio G, Martino D, Aniello MS, Masi G, Abbruzzese G, Lamberti S, Valente EM, Brancati F, Livrea P, Berardelli A. A family study on primary blepharospasm. Journal of Neurology, Neurosurgery, and Psychiatry. 77: 252-4. PMID 16421132 DOI: 10.1136/jnnp.2005.068007  0.48
2005 Silvestri L, Caputo V, Bellacchio E, Atorino L, Dallapiccola B, Valente EM, Casari G. Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism Human Molecular Genetics. 14: 3477-3492. PMID 16207731 DOI: 10.1093/hmg/ddi377  0.48
2005 Castori M, Valente EM, Clementi M, Tormene AP, Brancati F, Caputo V, Dallapiccola B. A novel locus for autosomal dominant cone and cone-rod dystrophies maps to the 6p gene cluster of retinal dystrophies. Investigative Ophthalmology & Visual Science. 46: 3539-44. PMID 16186331 DOI: 10.1167/iovs.05-0331  0.48
2005 Pedrini E, De Luca A, Valente EM, Maini V, Capponcelli S, Mordenti M, Mingarelli R, Sangiorgi L, Dallapiccola B. Novel EXT1 and EXT2 mutations identified by DHPLC in Italian patients with multiple osteochondromas Human Mutation.. 26: 280. PMID 16088908  0.48
2005 Albanese A, Valente EM, Romito LM, Bellacchio E, Elia AE, Dallapiccola B. The PINK1 phenotype can be indistinguishable from idiopathic Parkinson disease. Neurology. 64: 1958-60. PMID 15955954 DOI: 10.1212/01.WNL.0000163999.72864.FD  0.48
2005 Pellecchia MT, Valente EM, Cif L, Salvi S, Albanese A, Scarano V, Bonuccelli U, Bentivoglio AR, D'Amico A, Marelli C, Di Giorgio A, Coubes P, Barone P, Dallapiccola B. The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration Neurology. 64: 1810-1812. PMID 15911822 DOI: 10.1212/01.WNL.0000161843.52641.EC  0.48
2005 Castelnau P, Cif L, Valente EM, Vayssiere N, Hemm S, Gannau A, DiGiorgio A, Coubes P. Pallidal stimulation improves pantothenate kinase-associated neurodegeneration Annals of Neurology. 57: 738-741. PMID 15852393 DOI: 10.1002/ana.20457  0.48
2005 Valente EM, Marsh SE, Castori M, Dixon-Salazar T, Bertini E, Al-Gazali L, Messer J, Barbot C, Woods CG, Boltshauser E, Al-Tawari AA, Salpietro CD, Kayserili H, Sztriha L, Gribaa M, et al. Distinguishing the four genetic causes of Jouberts syndrome-related disorders. Annals of Neurology. 57: 513-9. PMID 15786477 DOI: 10.1002/ana.20422  0.48
2005 Valente EM, Edwards MJ, Mir P, DiGiorgio A, Salvi S, Davis M, Russo N, Bozi M, Kim HT, Pennisi G, Quinn N, Dallapiccola B, Bhatia KP. The epsilon-sarcoglycan gene in myoclonic syndromes. Neurology. 64: 737-9. PMID 15728306 DOI: 10.1212/01.WNL.0000151979.68010.9B  0.48
2005 Castori M, Valente EM, Donati MA, Salvi S, Fazzi E, Procopio E, Galluccio T, Emma F, Dallapiccola B, Bertini E. NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders Journal of Medical Genetics.. 42. PMID 15689444  0.48
2005 Fabbrini G, Brancati F, Vacca L, Valente EM, Nemeth A, Meesaq A, Sykes N, Dallapiccola B, Berardelli A. A novel family with an unusual early-onset generalized dystonia. Movement Disorders : Official Journal of the Movement Disorder Society. 20: 81-6. PMID 15390042 DOI: 10.1002/mds.20267  0.48
2004 Whone AL, Von Spiczak S, Edwards M, Valente EM, Hammers A, Bhatia KP, Brooks DJ. Opioid binding in DYT1 primary torsion dystonia: An 11C-diprenorphine PET study Movement Disorders. 19: 1498-1503. PMID 15390064 DOI: 10.1002/mds.20238  0.48
2004 Valente EM, Salvi S, Ialongo T, Marongiu R, Elia AE, Caputo V, Romito L, Albanese A, Dallapiccola B, Bentivoglio AR. PINK1 mutations are associated with sporadic early-onset parkinsonism. Annals of Neurology. 56: 336-41. PMID 15349860 DOI: 10.1002/ana.20256  0.48
2004 Woods CG, Valente EM, Bond J, Roberts E. A new method for autozygosity mapping using single nucleotide polymorphisms (SNPs) and EXCLUDEAR Journal of Medical Genetics. 41: e101. PMID 15286161  0.48
2004 Cif L, Valente EM, Hemm S, Coubes C, Vayssiere N, Serrat S, Di Giorgio A, Coubes P. Deep brain stimulation in myoclonus-dystonia syndrome Movement Disorders. 19: 724-727. PMID 15197720 DOI: 10.1002/mds.20030  0.48
2004 Valente EM, Abou-Sleiman PM, Caputo V, Muqit MM, Harvey K, Gispert S, Ali Z, Del Turco D, Bentivoglio AR, Healy DG, Albanese A, Nussbaum R, González-Maldonado R, Deller T, Salvi S, et al. Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science (New York, N.Y.). 304: 1158-60. PMID 15087508 DOI: 10.1126/science.1096284  0.48
2004 Novelli A, Valente EM, Bernardini L, Ceccarini C, Sinibaldi L, Caputo V, Cavalli P, Dallapiccola B. Autosomal dominant Brody disease cosegragates with a chromosomal (2;7)(p11.2;p12.1) trranslocation in an Italian family European Journal of Human Genetics. 12: 579-583. PMID 15083169 DOI: 10.1038/sj.ejhg.5201200  0.48
2004 Brancati F, Valente EM, Sarkozy A, Fehèr J, Castori M, Del Duca P, Mingarelli R, Pizzuti A, Dallapiccola B. A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13 Journal of Medical Genetics. 41: 188-192. PMID 14985379  0.48
2004 Bentivoglio AR, Ialongo T, Contarino MF, Valente EM, Albanese A. Phenotypic characterization of DYT13 primary torsion dystonia. Movement Disorders : Official Journal of the Movement Disorder Society. 19: 200-6. PMID 14978677 DOI: 10.1002/mds.10634  0.48
2004 Casali C, Valente EM, Bertini E, Montagna G, Criscuolo C, De Michele G, Villanova M, Damiano M, Pierallini A, Brancati F, Scarano V, Tessa A, Cricchi F, Grieco GS, Muglia M, et al. Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum. Neurology. 62: 262-8. PMID 14745065  0.48
2004 Healy DG, Abou-Sleiman PM, Valente EM, Gilks WP, Bhatia K, Quinn N, Lees AJ, Wood NW. DJ-1 mutations in Parkinson's disease Journal of Neurology, Neurosurgery and Psychiatry. 75: 144-145. PMID 14707326  0.48
2004 Bentivoglio AR, Elia AE, Filippini G, Valente EM, Fasano A, Albanese A. Clinical presentation and progression of sporadic and familial primary torsion dystonia in Italy. Advances in Neurology. 94: 171-8. PMID 14509671  0.48
2003 Brancati F, Valente EM, Tadini G, Caputo V, Di Benedetto A, Gelmetti C, Dallapiccola B. Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary malformation on chromosome 5q14 Journal of Medical Genetics. 40: 849-853. PMID 14627680  0.48
2003 Valente EM, Misbahuddin A, Brancati F, Placzek MR, Garavaglia B, Salvi S, Nemeth A, Shaw-Smith C, Nardocci N, Bentivoglio AR, Berardelli A, Eleopra R, Dallapiccola B, Warner TT. Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: evidence for genetic heterogeneity. Movement Disorders : Official Journal of the Movement Disorder Society. 18: 1047-51. PMID 14502674 DOI: 10.1002/mds.10476  0.48
2003 Brancati F, Valente EM, Davies NP, Sarkozy A, Sweeney MG, LoMonaco M, Pizzuti A, Hanna MG, Dallapiccola B. Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: Broadening the clinical spectrum associated with the T704M mutation in SCN4A Journal of Neurology, Neurosurgery and Psychiatry. 74: 1339-1341. PMID 12933953 DOI: 10.1136/jnnp.74.9.1339  0.48
2003 Valente EM, Salpietro DC, Brancati F, Bertini E, Galluccio T, Tortorella G, Briuglia S, Dallapiccola B. Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation American Journal of Human Genetics. 73: 663-670. PMID 12908130 DOI: 10.1086/378241  0.48
2003 Brancati F, Valente EM, Castori M, Vanacore N, Sessa M, Galardi G, Berardelli A, Bentivoglio AR, Defazio G, Girlanda P, Abbruzzese G, Albanese A, Dallapiccola B. Role of the dopamine D5 receptor (DRD5) as a susceptibility gene for cervical dystonia. Journal of Neurology, Neurosurgery, and Psychiatry. 74: 665-6. PMID 12700316 DOI: 10.1136/jnnp.74.5.665  0.48
2003 Lesca G, Eymard-Pierre E, Santorelli FM, Cusmai R, Di Capua M, Valente EM, Attia-Sobol J, Plauchu H, Leuzzi V, Ponzone A, Boespflug-Tanguy O, Bertini E. Infantile ascending hereditary spastic paralysis (IAHSP): Clinical features in 11 families Neurology. 60: 674-682. PMID 12601111  0.48
2003 Defazio G, Brancati F, Valente EM, Caputo V, Pizzuti A, Martino D, Abbruzzese G, Livrea P, Berardelli A, Dallapiccola B. Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene. Movement Disorders : Official Journal of the Movement Disorder Society. 18: 207-12. PMID 12539217 DOI: 10.1002/mds.10314  0.48
2003 Valente EM. Update on the genetics of dystonia Giornale Di Neuropsicofarmacologia. 25: 60-62.  0.48
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, 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  0.48
2002 Khan NL, Valente EM, Bentivoglio AR, Wood NW, Albanese A, Brooks DJ, Piccini P. Clinical and subclinical dopaminergic dysfunction in PARK6-linked parkinsonism: An 18F-dopa PET study Annals of Neurology. 52: 849-853. PMID 12447943 DOI: 10.1002/ana.10417  0.48
2002 Bentivoglio AR, Loi M, Valente EM, Ialongo T, Tonali P, Albanese A. Phenotypic variability of DYT1-PTD: does the clinical spectrum include psychogenic dystonia? Movement Disorders : Official Journal of the Movement Disorder Society. 17: 1058-63. PMID 12360559 DOI: 10.1002/mds.10236  0.48
2002 Spacey SD, Valente EM, Wali GM, Warner TT, Jarman PR, Schapira AH, Dixon PH, Davis MB, Bhatia KP, Wood NW. Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: evidence for a third EKD gene. Movement Disorders : Official Journal of the Movement Disorder Society. 17: 717-25. PMID 12210861 DOI: 10.1002/mds.10126  0.48
2002 Valente EM, Brancati F, Caputo V, Bertini E, Patrono C, Costanti D, Dallapiccola B. Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34 Annals of Neurology. 51: 681-685. PMID 12112072 DOI: 10.1002/ana.10204  0.48
2002 Brancati F, Defazio G, Caputo V, Valente EM, Pizzuti A, Livrea P, Berardelli A, Dallapiccola B. Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia. Movement Disorders : Official Journal of the Movement Disorder Society. 17: 392-7. PMID 11921130 DOI: 10.1002/mds.10077  0.48
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, et al. PARK6-linked parkinsonism occurs in several European families. Annals of Neurology. 51: 14-8. PMID 11782979 DOI: 10.1002/ana.10053  0.48
2001 Bentivoglio AR, Cortelli P, Valente EM, Ialongo T, Ferraris A, Elia A, Montagna P, Albanese A. Phenotypic characterisation of autosomal recessive PARK6-linked parkinsonism in three unrelated Italian families Movement Disorders. 16: 999-1006. PMID 11748730 DOI: 10.1002/mds.10034  0.48
2001 Valente EM, Bentivoglio AR, Cassetta E, Dixon PH, Davis MB, Ferraris A, Ialongo T, Frontali M, Wood NW, Albanese A. Identification of a novel primary torsion dystonia locus (DYT13) on chromosome 1p36 in an Italian family with cranial-cervical or upper limb onset. Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. 22: 95-6. PMID 11487218 DOI: 10.1007/s100720170063  0.48
2001 Valente EM, Bentivoglio AR, Cassetta E, Dixon PH, Davis MB, Ferraris A, Ialongo T, Frontali M, Wood NW, Albanese A. DYT13, a novel primary torsion dystonia locus, maps to chromosome 1p36.13--36.32 in an Italian family with cranial-cervical or upper limb onset. Annals of Neurology. 49: 362-6. PMID 11261511 DOI: 10.1002/ana.73  0.48
2001 Valente EM, Bentivoglio AR, Dixon PH, Ferraris A, Lalongo T, Frontali M, Albanese A, Wood NW. Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36 American Journal of Human Genetics. 68: 895-900. PMID 11254447 DOI: 10.1086/319522  0.48
2000 HanaÄŸasi HA, Kaptanoglu G, Sahin HA, Emre M. The use of NMDA antagonist memantine in drug-resistant dyskinesias resulting from L-dopa. Movement Disorders : Official Journal of the Movement Disorder Society. 15: 1016-7. PMID 11009218 DOI: 10.1002/1531-8257(200009)15:5<1016::AID-MDS1042>3.0.CO;2-J  0.48
2000 Valente EM, Spacey SD, Wali GM, Bhatia KP, Dixon PH, Wood NW, Davis MB. A second paroxysmal kinesigenic choreoathetosis locus (EKD2) mapping on 16q13-q22.1 indicates a family of genes which give rise to paroxysmal disorders on human chromosome 16. Brain : a Journal of Neurology. 123: 2040-5. PMID 11004121  0.48
2000 Münchau A, Valente EM, Shahidi GA, Eunson LH, Hanna MG, Quinn NP, Schapira AHV, Wood NW, Bhatia KP. A new family with paroxysmal exercise induced dystonia and migraine: A clinical and genetic study Journal of Neurology Neurosurgery and Psychiatry. 68: 609-614. PMID 10766892 DOI: 10.1136/jnnp.68.5.609  0.48
2000 Albanese A, Bentivoglio AR, Del Grosso N, Cassetta E, Frontali M, Valente EM, Tonali P. Phenotype variability of dystonia in monozygotic twins Journal of Neurology. 247: 148-150. PMID 10751123  0.48
1999 Valente EM, Povey S, Warner TT, Wood NW, Davis MB. Detailed haplotype analysis in Ashkenazi Jewish and non-Jewish British dystonic patients carrying the GAG deletion in the DYT1 gene: evidence for a limited number of founder mutations. Annals of Human Genetics. 63: 1-8. PMID 10738516 DOI: 10.1017/S0003480099007265  0.48
1999 Cassetta E, Del Grosso N, Bentivoglio AR, Valente EM, Frontali M, Albanese A. Italian family with cranial cervical dystonia: Clinical and genetic study Movement Disorders. 14: 820-825. PMID 10495044 DOI: 10.1002/1531-8257(199909)14:5<820::AID-MDS1015>3.0.CO;2-I  0.48
1999 Jarman PR, del Grosso N, Valente EM, Leube B, Cassetta E, Bentivoglio AR, Waddy HM, Uitti RJ, Maraganore DM, Albanese A, Frontali M, Auburger G, Bressman SB, Wood NW, Nygaard TG. Primary torsion dystonia: the search for genes is not over. Journal of Neurology, Neurosurgery, and Psychiatry. 67: 395-7. PMID 10449567  0.48
1998 Bandmann O, Valente EM, Holmans P, Surtees RAH, Walters JH, Wevers RA, Marsden CD, Wood NW. Dopa-responsive dystonia: A clinical and molecular genetic study Annals of Neurology. 44: 649-656. PMID 9778264 DOI: 10.1002/ana.410440411  0.48
1998 Valente EM, Bentivoglio AR, Albanese A. The genetic basis of movement disorders Schweizer Archiv Fur Neurologie Und Psychiatrie. 149: 157-162.  0.48
1997 Padua L, LoMonaco M, Gregori B, Valente EM, Padua R, Tonali P. Neurophysiological classification and sensitivity in 500 carpal tunnel syndrome hands Acta Neurologica Scandinavica. 96: 211-217. PMID 9325471  0.48
1997 LoMonaco M, Padua L, Gregori B, Valente EM, Tonali P. Ulnar innervation of the thenar eminence with preservation of median innervation of first lumbrical muscle. Muscle & Nerve. 20: 629-630. PMID 9140377  0.48
1996 Padua L, LoMonaco M, Padua R, Gregori B, Valente EM, Tonali P. Suprascapular nerve entrapment. Neurophysiological localization in 6 cases Acta Orthopaedica Scandinavica. 67: 482-484. PMID 8948255  0.48
1996 Padua L, LoMonaco M, Aulisa L, Tamburrelli F, Valente EM, Padua R, Gregori B, Tonali P. Surgical prognosis in carpal tunnel syndrome: Usefulness of a preoperative neurophysiological assessment Acta Neurologica Scandinavica. 94: 343-346. PMID 8947287  0.48
1996 Lomonaco M, Milone M, Valente EM, Padua L, Tonali P. Low-rate nerve stimulation during regional ischemia in the diagnosis of muscle glycogenosis Muscle and Nerve. 19: 1523-1529. PMID 8941265  0.48
1996 Padua L, LoMonaco M, Gregori B, Valente EM, Tonali P. Double-peaked potential in the neurophysiological evaluation of carpal tunnel syndrome. Muscle & Nerve. 19: 679-680. PMID 8618577  0.48
1996 Padua L, Lo Monaco M, Valente EM, Tonali PA. A useful electrophysiologic parameter for diagnosis of carpal tunnel syndrome Muscle and Nerve. 19: 48-53. PMID 8538669 DOI: 10.1002/(SICI)1097-4598(199601)19:1<48::AID-MUS6>3.0.CO;2-8  0.48
Low-probability matches
2016 Li C, Jensen VL, Park K, Kennedy J, Garcia-Gonzalo FR, Romani M, De Mori R, Bruel AL, Gaillard D, Doray B, Lopez E, Rivière JB, Faivre L, Thauvin-Robinet C, Reiter JF, ... ... Valente EM, et al. MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone. Plos Biology. 14: e1002416. PMID 26982032 DOI: 10.1371/journal.pbio.1002416  0.2
2016 Zhang S, Malik Sharif S, Chen YC, Valente EM, Ahmed M, Sheridan E, Bennett C, Woods G. Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain. Journal of Medical Genetics. PMID 26975306 DOI: 10.1136/jmedgenet-2015-103646  0.2
2015 Gagliardi C, Brenna V, Romaniello R, Arrigoni F, Tavano A, Romani M, Valente EM, Borgatti R. Cognitive rehabilitation in a child with Joubert Syndrome: Developmental trends and adaptive changes in a single case report. Research in Developmental Disabilities. 47: 375-84. PMID 26489806 DOI: 10.1016/j.ridd.2015.09.013  0.2
2015 Di Giacopo R, Cianetti L, Caputo V, La Torraca I, Piemonte F, Ciolfi A, Petrucci S, Carta C, Mariotti P, Leuzzi V, Valente EM, D'Amico A, Bentivoglio A, Bertini E, Tartaglia M, et al. Protracted late infantile ceroid lipofuscinosis due to TPP1 mutations: Clinical, molecular and biochemical characterization in three sibs Journal of the Neurological Sciences. 356: 65-71. PMID 26143525 DOI: 10.1016/j.jns.2015.05.021  0.2
2015 Roosing S, Hofree M, Kim S, Scott E, Copeland B, Romani M, Silhavy JL, Rosti RO, Schroth J, Mazza T, Miccinilli E, Zaki MS, Swoboda KJ, Milisa-Drautz J, Dobyns WB, ... ... Valente EM, et al. Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. Elife. 4. PMID 26026149 DOI: 10.7554/eLife.06602  0.2
2015 Chen YC, Auer-Grumbach M, Matsukawa S, Zitzelsberger M, Themistocleous AC, Strom TM, Samara C, Moore AW, Cho LT, Young GT, Weiss C, Schabhüttl M, Stucka R, Schmid AB, Parman Y, ... ... Valente EM, et al. Transcriptional regulator PRDM12 is essential for human pain perception. Nature Genetics. 47: 803-8. PMID 26005867 DOI: 10.1038/ng.3308  0.2
2014 Theuns J, Verstraeten A, Sleegers K, Wauters E, Gijselinck I, Smolders S, Crosiers D, Corsmit E, Elinck E, Sharma M, Krüger R, Lesage S, Brice A, Chung SJ, Kim MJ, ... ... Valente EM, et al. Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease. Neurology. 83: 1906-13. PMID 25326098 DOI: 10.1212/WNL.0000000000001012  0.2
2012 Lee JH, Silhavy JL, Lee JE, Al-Gazali L, Thomas S, Davis EE, Bielas SL, Hill KJ, Iannicelli M, Brancati F, Gabriel SB, Russ C, Logan CV, Sharif SM, Bennett CP, ... ... Valente EM, et al. Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. Science (New York, N.Y.). 335: 966-9. PMID 22282472 DOI: 10.1126/science.1213506  0.2
2012 Lee JE, Silhavy JL, Zaki MS, Schroth J, Bielas SL, Marsh SE, Olvera J, Brancati F, Iannicelli M, Ikegami K, Schlossman AM, Merriman B, Attié-Bitach T, Logan CV, Glass IA, ... ... Valente EM, et al. CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. Nature Genetics. 44: 193-9. PMID 22246503 DOI: 10.1038/ng.1078  0.2
2015 Carelli V, Musumeci O, Caporali L, Zanna C, La Morgia C, Del Dotto V, Porcelli AM, Rugolo M, Valentino ML, Iommarini L, Maresca A, Barboni P, Carbonelli M, Trombetta C, Valente EM, et al. Syndromic parkinsonism and dementia associated with OPA1 missense mutations Annals of Neurology. 78: 21-38. PMID 25820230 DOI: 10.1002/ana.24410  0.01
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