Genetics and genomic medicine in Tunisia

Mutations in the Dystrophin-Associated Protein γ-Sarcoglycan in Chromosome 13 Muscular Dystrophy

S. Noguchi, Elizabeth M. McNally, Kamel Ben Othmane et al. · Science · 1995 · 510 citations

Medicine, Genetics, Molecular Genetics +15

The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene

Dominique Weil, Polonca Küssel, Stéphane Blanchard et al. · Nature Genetics · 1997 · 427 citations

Life Sciences, Genetics, Molecular Genetics +13

The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy

Pascale Bomont, L Cavalier, F Blondeau et al. · Nature Genetics · 2000 · 413 citations

Life Sciences, Genetics, Neuroscience +12

Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21

Rachel V. Baxter, Kamel Ben Othmane, Julie M. Rochelle et al. · Nature Genetics · 2001 · 369 citations

Life Sciences, Genetics, Neuroscience +10

Mutations in MTMR13, a New Pseudophosphatase Homologue of MTMR2 and Sbf1, in Two Families with an Autosomal Recessive Demyelinating Form of Charcot-Marie-Tooth Disease Associated with Early-Onset Glaucoma

Hamid Azzedine, Alessandra Bolino, T. Taïeb et al. · The American Journal of Human Genetics · 2003 · 302 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13