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| Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases L Heidet, S Decramer, A Pawtowski, V Moriniere, F Bandin, ... Clinical Journal of the American Society of Nephrology 5 (6), 1079-1090, 2010 | 308 | 2010 |
| Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families G Cancel, A Dürr, O Didierjean, G Imbert, K Bürk, A Lezin, S Belal, ... Human molecular genetics 6 (5), 709-715, 1997 | 290 | 1997 |
| Huntington’s disease‐like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes G Stevanin, H Fujigasaki, AS Lebre, A Camuzat, C Jeannequin, C Dodé, ... Brain 126 (7), 1599-1603, 2003 | 214 | 2003 |
| The landscape of epilepsy-related GATOR1 variants S Baldassari, F Picard, NE Verbeek, M van Kempen, EH Brilstra, G Lesca, ... Genetics in Medicine 21 (2), 398-408, 2019 | 190 | 2019 |
| Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy L Galmiche, V Serre, M Beinat, Z Assouline, AS Lebre, D Chretien, ... Human mutation 32 (11), 1225-1231, 2011 | 164 | 2011 |
| Natural history of Barth syndrome: a national cohort study of 22 patients C Rigaud, AS Lebre, R Touraine, B Beaupain, C Ottolenghi, A Chabli, ... Orphanet journal of rare diseases 8, 1-13, 2013 | 129 | 2013 |
| SCA12 is a rare locus for autosomal dominant cerebellar ataxia: a study of an Indian family H Fujigasaki, IC Verma, A Camuzat, RL Margolis, C Zander, AS Lebre, ... Annals of Neurology: Official Journal of the American Neurological …, 2001 | 127 | 2001 |
| Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders S Bannwarth, V Procaccio, AS Lebre, C Jardel, A Chaussenot, C Hoarau, ... Journal of medical genetics 50 (10), 704-714, 2013 | 123 | 2013 |
| Epileptic phenotypes in children with respiratory chain disorders S El Sabbagh, AS Lebre, N Bahi‐Buisson, P Delonlay, C Soufflet, ... Epilepsia 51 (7), 1225-1235, 2010 | 117 | 2010 |
| Similarities between spinocerebellar ataxia type 7 (SCA7) cell models and human brain: proteins recruited in inclusions and activation of caspase-3 C Zander, J Takahashi, KH El Hachimi, H Fujigasaki, V Albanese, ... Human molecular genetics 10 (22), 2569-2579, 2001 | 115 | 2001 |
| A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency AS Lebre, M Rio, LF d'Arcier, D Vernerey, P Landrieu, A Slama, C Jardel, ... Journal of medical genetics 48 (1), 16-23, 2011 | 102 | 2011 |
| Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients A Haghighi, TB Haack, M Atiq, H Mottaghi, H Haghighi-Kakhki, RA Bashir, ... Orphanet journal of rare diseases 9, 1-12, 2014 | 91 | 2014 |
| Distribution of ataxin-7 in normal human brain and retina G Cancel, C Duyckaerts, M Holmberg, C Zander, G Yvert, AS Lebre, ... Brain 123 (12), 2519-2530, 2000 | 90 | 2000 |
| Genetics of Usher syndrome: new insights from a meta-analysis G Jouret, C Poirsier, M Spodenkiewicz, C Jaquin, E Gouy, C Arndt, ... Otology & Neurotology 40 (1), 121-129, 2019 | 88 | 2019 |
| Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression C Mignot, E Apartis, A Durr, C Marques Lourenço, P Charles, D Devos, ... Orphanet journal of rare diseases 8, 1-10, 2013 | 82 | 2013 |
| Two populations of neuronal intranuclear inclusions in SCA7 differ in size and promyelocytic leukaemia protein content J Takahashi, H Fujigasaki, C Zander, KH El Hachimi, G Stevanin, A Dürr, ... Brain 125 (7), 1534-1543, 2002 | 72 | 2002 |
| Wiedemann‐Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases S Baer, A Afenjar, T Smol, A Piton, B Gerard, Y Alembik, T Bienvenu, ... Clinical Genetics 94 (1), 141-152, 2018 | 70 | 2018 |
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| NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement E Leshinsky-Silver, AS Lebre, L Minai, A Saada, J Steffann, S Cohen, ... Molecular genetics and metabolism 97 (3), 185-189, 2009 | 67 | 2009 |
