Barbot, Clara

Top Publications

Top Publications Authored or Co-Authored by "Barbot, Clara"

• Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2

  Nature Genetics, Volume 36, No. 3, Year 2004, Citations 473
• Ataxia with oculomotor apraxia type 2: Clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients

  Brain, Volume 132, No. 10, Year 2009, Citations 218
• CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium

  Nature Genetics, Volume 44, No. 2, Year 2012, Citations 169
• CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

  American Journal of Human Genetics, Volume 81, No. 1, Year 2007, Citations 145
• Distinguishing the four genetic causes of Jouberts syndrome-related disorders

  Annals of Neurology, Volume 57, No. 4, Year 2005, Citations 102