Christiane Ben Hamida

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 · 410 citations

Neuroregeneration, Molecular Neuroscience, Giant Axonal Neuropathy +11

Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia)

Sophie Nicole, Claire-Sophie Davoine, Haluk Topaloğlu et al. · Nature Genetics · 2000 · 296 citations

Schwartz-jampel Syndrome, Surgical Pathology, Histopathology +9

Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping

Christiane Ben Hamida, Nathalie Doerflinger, Samir Belal et al. · Nature Genetics · 1993 · 210 citations

Mendelian Disorder, Genetic Disorder, Medicine +6

Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q

Kamel Ben Othmane, F. Hentatl, Felicia Lennon et al. · Human Molecular Genetics · 1993 · 177 citations

Linkage of Tunisian autosomal recessive Duchenne–like muscular dystrophy to the pericentromeric region of chromosome 13q

Kamel Ben Othmane, Mongi Ben Hamida, Margaret A. Pericak‐Vance et al. · Nature Genetics · 1992 · 175 citations

Chromosome Dynamics, Developmental Biology, Mendelian Disorder +9