A novel mutation of aprataxin associated with ataxia ocular apraxia type 1: Phenotypical and genotypical characterization
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),Neurology
Reference15 articles.
1. Congenital ocular motor apraxia and cerebellar degeneration—report of two cases;Inoue;Rinsho Shinkeigaku,1971
2. Hereditary motor and sensory neuropathy associated with cerebellar atrophy (HMSNCA): a new disease;Fukuhara;J Neurol Sci,1995
3. Cerebellar ataxia with oculomotor apraxia type I: clinical and genetic studies;Le Ber;Brain,2003
4. Ataxia with oculomotor apraxia type 1 in southern Italy. Late onset and variable phenotype;Criscuolo;Neurology,2004
5. Hereditary motor and sensory neuropathy associated with cerebellar atrophy (HMSNCA): clinical and neuropathological features of a Japanese family;Sekijima;J Neurol Sci,1998
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