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| Hereditary Early-Onset Parkinson's Disease Caused by Mutations in PINK1 EM Valente, PM Abou-Sleiman, V Caputo, MMK Muqit, K Harvey, ... Science 304 (5674), 1158-1160, 2004 | 4098 | 2004 |
| An SCN9A channelopathy causes congenital inability to experience pain JJ Cox, F Reimann, AK Nicholas, G Thornton, E Roberts, K Springell, ... Nature 444 (7121), 894-898, 2006 | 1860 | 2006 |
| Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36 EM Valente, AR Bentivoglio, PH Dixon, A Ferraris, T Ialongo, M Frontali, ... The American Journal of Human Genetics 68 (4), 895-900, 2001 | 672 | 2001 |
| PINK1 mutations are associated with sporadic early‐onset parkinsonism EM Valente, S Salvi, T Ialongo, R Marongiu, AE Elia, V Caputo, L Romito, ... Annals of neurology 56 (3), 336-341, 2004 | 645 | 2004 |
| Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1 YJ Crow, DS Chase, J Lowenstein Schmidt, M Szynkiewicz, GMA Forte, ... American journal of medical genetics Part A 167 (2), 296-312, 2015 | 557 | 2015 |
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| Neurophysiological classification and sensitivity in 500 carpal tunnel syndrome hands L Padua, M LoMonaco, B Gregori, EM Valente, R Padua, P Tonali Acta Neurologica Scandinavica 96 (4), 211-217, 1997 | 553 | 1997 |
| Joubert Syndrome and related disorders F Brancati, B Dallapiccola, EM Valente Orphanet journal of rare diseases 5, 1-10, 2010 | 518 | 2010 |
| Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome EM Valente, JL Silhavy, F Brancati, G Barrano, SR Krishnaswami, ... Nature genetics 38 (6), 623-625, 2006 | 504 | 2006 |
| Clinical and molecular phenotype of Aicardi-Goutieres syndrome G Rice, T Patrick, R Parmar, CF Taylor, A Aeby, J Aicardi, R Artuch, ... The American Journal of Human Genetics 81 (4), 713-725, 2007 | 464 | 2007 |
| Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast‐flow vascular anomalies are caused by RASA1 mutations N Revencu, LM Boon, JB Mulliken, O Enjolras, MR Cordisco, PE Burrows, ... Human mutation 29 (7), 959-965, 2008 | 442 | 2008 |
| Motile and non‐motile cilia in human pathology: from function to phenotypes HM Mitchison, EM Valente The Journal of pathology 241 (2), 294-309, 2017 | 419 | 2017 |
| Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies SL Bielas, JL Silhavy, F Brancati, MV Kisseleva, L Al-Gazali, L Sztriha, ... Nature genetics 41 (9), 1032-1036, 2009 | 417 | 2009 |
| Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome V Cantagrel, JL Silhavy, SL Bielas, D Swistun, SE Marsh, JY Bertrand, ... The American Journal of Human Genetics 83 (2), 170-179, 2008 | 412 | 2008 |
| Joubert syndrome: congenital cerebellar ataxia with the molar tooth M Romani, A Micalizzi, EM Valente The Lancet Neurology 12 (9), 894-905, 2013 | 397 | 2013 |
| Translation initiator EIF4G1 mutations in familial Parkinson disease MC Chartier-Harlin, JC Dachsel, C Vilariño-Güell, SJ Lincoln, F Leprêtre, ... The American Journal of Human Genetics 89 (3), 398-406, 2011 | 392 | 2011 |
| Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case–control study OA Ross, AI Soto-Ortolaza, MG Heckman, JO Aasly, N Abahuni, G Annesi, ... The Lancet Neurology 10 (10), 898-908, 2011 | 338 | 2011 |
| Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes EM Valente, CV Logan, S Mougou-Zerelli, JH Lee, JL Silhavy, F Brancati, ... Nature genetics 42 (7), 619-625, 2010 | 323 | 2010 |
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