Senataxin, the yeast Sen1p orthologue: characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron disease - PubMed (original) (raw)

Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients.

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SETX (senataxin), the helicase mutated in AOA2 and ALS4, functions in autophagy regulation.

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