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

Archive ouverte | Tazir, M. | CCSD

International audience. Ataxia with oculo-motor apraxia type 2 (AOA2) is a recently described autosomal recessive cerebellar ataxia (ARCA) caused by mutations in the senataxin gene (SETX). We analysed the phenotypic...

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Archive ouverte | Anheim, Mathieu | CCSD

International audience. Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive disease due to mutations in the senataxin gene, causing progressive cerebellar ataxia with peripheral neuropathy, cerebe...

The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa

Archive ouverte | Richard, P. | CCSD

International audience

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