K. Othmane

发表

The gene encoding ganglioside- induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease

J. Gilbert, M. Pericak-Vance, J. Vance, 2001 .

Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation.

L. Kunkel, J. Vance, M. Passos-Bueno, 1996, American journal of human genetics.

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

L. Kunkel, J. Vance, L. Middleton, 1995, Science.

Misclassification and linkage of hereditary sensory and autonomic neuropathy type 1 as Charcot-Marie-Tooth disease, type 2B.

J. Vance, J. Stajich, M. Speer, 1996, American journal of human genetics.

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

J. Gilbert, M. Pericak-Vance, J. Vance, 2002, Nature Genetics.

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

M. Pericak-Vance, A. Roses, A. Bowcock, 1992, Nature Genetics.

Identification of a new locus for autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin on chromosome 11p15.

M. Pericak-Vance, J. Vance, M. Hamida, 1999, Genomics.

Physical and genetic mapping of the CMT4A locus and exclusion of PMP-2 as the defect in CMT4A.

M. Pericak-Vance, J. Vance, M. Hamida, 1995, Genomics.

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

M. Pericak-Vance, J. Vance, M. Hamida, 1993, Human molecular genetics.

Localization of a gene (CMT2A) for autosomal dominant Charcot-Marie-Tooth disease type 2 to chromosome 1p and evidence of genetic heterogeneity.

M. Pericak-Vance, A. Roses, J. Vance, 1993, Genomics.