Igbmc Institut de Genetique et de Biologie Moleculaire et Cellulaire

Top Publications

Top Publications Authored or Co-Authored in "Igbmc Institut de Genetique et de Biologie Moleculaire et Cellulaire"

• Ataxia with isolated vitamin E deficiency is caused by mutations in the α–tocopherol transfer protein

  Nature Genetics, Volume 9, No. 2, Year 1995, Citations 520
• The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy

  Nature Genetics, Volume 26, No. 3, Year 2000, Citations 391
• Molecular and clinical correlations in spinocerebellar ataxia 2: A study of 32 families

  Human Molecular Genetics, Volume 6, No. 5, Year 1997, Citations 263
• In vivo evidence that the stromelysin-3 metalloproteinase contributes in a paracrine manner to epithelial cell malignancy

  Journal of Cell Biology, Volume 140, No. 6, Year 1998, Citations 258
• Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: A clinical and genetic study in 18 patients

  Brain, Volume 127, No. 4, Year 2004, Citations 191