Ataxia with oculomotor apraxia type 2: A clinical and genetic study of 19 patients

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

ADCK3, an Ancestral Kinase, Is Mutated in a Form of Recessive Ataxia Associated with Coenzyme Q10 Deficiency

Clotilde Lagier‐Tourenne, Mériem Tazir, Luís C. López et al. · The American Journal of Human Genetics · 2008 · 316 citations · Full text

Is Mutated, Mendelian Disorder, Genetic Disorder +7

Ataxia with Isolated Vitamin E Deficiency: Heterogeneity of Mutations and Phenotypic Variability in a Large Number of Families

L Cavalier, Karim Ouahchi, Herbert J. Kayden et al. · The American Journal of Human Genetics · 1998 · 305 citations · Full text

Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients

Isabelle Le Ber · Brain · 2004 · 210 citations · Full text

Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative DNA damage

Amila Suraweera, Olivier J. Bécherel, Philip Chen et al. · The Journal of Cell Biology · 2007 · 194 citations · Full text