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

Ataxia-ocular apraxia 2 (AOA2) was recently identified as a new autosomal recessive ataxia. We have now identified causative mutations in 15 families, which allows us to clinically define this entity by onset between 10 and 22 years, cerebellar atrophy, axonal sensorimotor neuropathy, oculomotor apr...

Full description

Bibliographic Details
Main Authors:	Moreira, M, Klur, S, Watanabe, M, Németh, A, Le Ber, I, Moniz, J, Tranchant, C, Aubourg, P, Tazir, M, Schöls, L, Pandolfo, M, Schulz, J, Pouget, J, Calvas, P, Shizuka-Ikeda, M, Shoji, M, Tanaka, M, Izatt, L, Shaw, C, M'Zahem, A, Dunne, E, Bomont, P, Benhassine, T, Bouslam, N, Stevanin, G
Format:	Journal article
Language:	English
Published:	2004

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

Similar Items