Chkili, Taïeb

Top Publications

Top Publications Authored or Co-Authored by "Chkili, Taïeb"

• 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

  American Journal of Human Genetics, Volume 72, No. 5, Year 2003, Citations 278
• Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7)

  Human Molecular Genetics, Volume 7, No. 2, Year 1998, Citations 275
• The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12–p21.1

  Nature Genetics, Volume 10, No. 1, Year 1995, Citations 155
• Mutation in the epsilon subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct5) gene causes autosomal recessive mutilating sensory neuropathy with spastic paraplegia

  Journal of Medical Genetics, Volume 43, No. 5, Year 2006, Citations 112
• A locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 1q21.2-q21.3

  American Journal of Human Genetics, Volume 65, No. 3, Year 1999, Citations 93