Hentati Fayçal
Hentati Fayçal
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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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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