Clara Barbot

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

Maria-Ceù Moreira, Sandra Klur, Andrea H. Németh et al. · Nature Genetics · 2004 · 518 citations · Full text

Yeast Rna Helicase, Natural Sciences, Genetics +7

The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin

Maria-Céu Moreira, Clara Barbot, Nobutada Tachi et al. · Nature Genetics · 2001 · 432 citations

Systems Biology, Genetic Disorder, Genetics +7

Neurodegeneration associated with genetic defects in phospholipase A ₂

Allison Gregory, S. K. Westaway, Ida E. Holm et al. · Neurology · 2008 · 263 citations · Full text

Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients

Mathieu Anheim, B. Monga, Marie‐Céline Fleury et al. · Brain · 2009 · 242 citations · Full text

CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium

Ji Eun Lee, Jennifer L. Silhavy, Maha S. Zaki et al. · Nature Genetics · 2012 · 188 citations

Mendelian Disorder, Joubert Syndrome, Genetic Disorder +8