| Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy J Liu, M Aoki, I Illa, C Wu, M Fardeau, C Angelini, C Serrano, ... Nature genetics 20 (1), 31-36, 1998 | 1129 | 1998 |
| VPS35 mutations in Parkinson disease C Vilariño-Güell, C Wider, OA Ross, JC Dachsel, JM Kachergus, ... The American Journal of Human Genetics 89 (1), 162-167, 2011 | 1095 | 2011 |
| The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis YI Yang, A Hentati, HX Deng, O Dabbagh, T Sasaki, M Hirano, WY Hung, ... Nature genetics 29 (2), 160-165, 2001 | 956 | 2001 |
| Ataxia with isolated vitamin E deficiency is caused by mutations in the α–tocopherol transfer protein K Ouahchi, M Arita, H Kayden, F Hentati, MB Hamida, R Sokol, H Arai, ... Nature genetics 9 (2), 141-145, 1995 | 715 | 1995 |
| Mutations in the dystrophin-associated protein γ-sarcoglycan in chromosome 13 muscular dystrophy S Noguchi, EM McNally, KB Othmane, Y Hagiwara, Y Mizuno, M Yoshida, ... Science 270 (5237), 819-822, 1995 | 651 | 1995 |
| Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21 RV Baxter, KB Othmane, JM Rochelle, JE Stajich, C Hulette, ... Nature genetics 30 (1), 21, 2002 | 570* | 2002 |
| The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy P Bomont, L Cavalier, F Blondeau, CB Hamida, S Belal, M Tazir, E Demir, ... Nature genetics 26 (3), 370-374, 2000 | 456 | 2000 |
| Inhibition of LRRK2 kinase activity leads to dephosphorylation of Ser910/Ser935, disruption of 14-3-3 binding and altered cytoplasmic localization N Dzamko, M Deak, F Hentati, AD Reith, AR Prescott, DR Alessi, ... Biochemical Journal 430 (3), 405-413, 2010 | 430 | 2010 |
| 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 | 413 | 2011 |
| DNAJC13 mutations in Parkinson disease C Vilariño-Güell, A Rajput, AJ Milnerwood, B Shah, C Szu-Tu, J Trinh, I Yu, ... Human molecular genetics 23 (7), 1794-1801, 2014 | 371 | 2014 |
| Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia) S Nicole, CS Davoine, H Topaloglu, L Cattolico, D Barral, P Beighton, ... Nature genetics 26 (4), 480-483, 2000 | 349 | 2000 |
| Molecular and Clinical Correlations in Autosomal Dominant Cerebellar Ataxia with Progressive Macular Dystrophy (SCA7) G David, A Dürr, G Stevanin, G Cancel, N Abbas, A Benomar, S Belal, ... Human molecular genetics 7 (2), 165-170, 1998 | 338 | 1998 |
| 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 | 294 | 1997 |
| Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping C Ben Hamida, N Doerflinger, S Belal, C Linder, L Reutenauer, C Dib, ... Nature genetics 5 (2), 195-200, 1993 | 284 | 1993 |
| Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33–q35 A Hentati, K Bejaoui, MA Pericak-Vance, F Hentati, MC Speer, WY Hung, ... Nature genetics 7 (3), 425-428, 1994 | 283 | 1994 |
| Linkage of a commoner form of recessive amyotrophic lateral sclerosis to chromosome 15q15-q22 markers A Hentati, K Ouahchi, MA Pericak-Vance, D Nijhawan, A Ahmad, Y Yang, ... Neurogenetics 2, 55-60, 1998 | 273 | 1998 |
| Shorter telomeres in dystrophic muscle consistent with extensive regeneration in young children S Decary, CB Hamida, V Mouly, JP Barbet, F Hentati, GS Butler-Browne Neuromuscular Disorders 10 (2), 113-120, 2000 | 259 | 2000 |
| Linkage of Tunisian autosomal recessive Duchenne–like muscular dystrophy to the pericentromeric region of chromosome 13q K Ben Othmane, M Ben Hamida, MA Pericak-Vance, C Ben Hamida, ... Nature genetics 2 (4), 315-317, 1992 | 257 | 1992 |
| Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q KB Othmane, F Hentatl, F Lennon, CB Hamida, S Blel, AD Roses, ... Human molecular genetics 2 (10), 1625-1628, 1993 | 246 | 1993 |
| Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping D Hillaire, A Leclerc, S Fauré, H Topaloglu, N Chiannllkulchai, ... Human molecular genetics 3 (9), 1657-1661, 1994 | 243 | 1994 |
Matt FarrerUniversity of FloridaEmail yang diverifikasi di can.ubc.ca