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

Maria-Ceù Moreira, Sandra Klur, Andrea H. Németh, +29

Nature Genetics

Yeast Rna HelicaseNatural SciencesGeneticsRna BiologyMolecular Biology +5

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

Maria-Céu Moreira, Clara Barbot, Nobutada Tachi, +12

Nature Genetics

Systems BiologyGenetic DisorderGeneticsProtein GeneticsMolecular Genetics +5

Neurodegeneration associated with genetic defects in phospholipase A ₂

Allison Gregory, S. K. Westaway, Ida E. Holm, +19

Neurology

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, +31

Brain

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

Ji Eun Lee, Jennifer L. Silhavy, Maha S. Zaki, +27

Nature Genetics

Mendelian DisorderJoubert SyndromeGenetic DisorderGeneticsPathology +6

Trinucleotide Repeats in 202 Families With Ataxia

Isabel Silveira, Carlos J. Miranda, Laura Guimarães, +22

Archives of Neurology

Hereditary Ataxia and Spastic Paraplegia in Portugal

Paula Coutinho, Luís Ruano, José Leal Loureiro, +11

JAMA Neurology

Mutations in PNKP Cause Recessive Ataxia with Oculomotor Apraxia Type 4

José Brás, Isabel Alonso, Clara Barbot, +7

The American Journal of Human Genetics

Distinguishing the four genetic causes of jouberts syndrome–related disorders

Enza Maria Valente, Sarah Marsh, Marco Castori, +14

Annals of Neurology

Developmental AnomalyNphp1 GeneDevelopmental BiologyGenetic CausesMendelian Disorder +12

Recessive Ataxia With Ocular Apraxia

Clara Barbot, Paula Coutinho, Rui Chorão, +9

Archives of Neurology