Mandel, Jean Louis

Top Publications

Top Publications Authored or Co-Authored by "Mandel, Jean Louis"

• Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion

  Nature Genetics, Volume 17, No. 1, Year 1997, Citations 753
• 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
• ADCK3, an Ancestral Kinase, Is Mutated in a Form of Recessive Ataxia Associated with Coenzyme Q10 Deficiency

  American Journal of Human Genetics, Volume 82, No. 3, Year 2008, Citations 301
• BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

  Nature Genetics, Volume 38, No. 5, Year 2006, Citations 300
• Molecular and clinical correlations in spinocerebellar ataxia 2: A study of 32 families

  Human Molecular Genetics, Volume 6, No. 5, Year 1997, Citations 263