Isabelle Le Ber

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

Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration

Giovanni Stévanin, Hamid Azzedine, Paola S. Denora et al. · Brain · 2007 · 246 citations

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

Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies

Isabelle Le Ber · Brain · 2003 · 237 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