Les ataxies cérébelleuses autosomiques récessives avec apraxie oculomotrice
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),Neurology
Reference51 articles.
1. Ataxia-ocular motor apraxia: a syndrome mimicking ataxia-telangiectasia;Aicardi;Ann Neurol,1988
2. Aprataxin gene mutations in Tunisian families;Amouri;Neurology,2004
3. Recessive ataxia with ocular apraxia: review of 22 Portuguese patients;Barbot;Arch Neurol,2001
4. Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33-34, and with hearing impairment and optic atrophy to 6p21-23;Bomont;Europ J Hum Genet,2000
5. ATM mutations on distinct SNP and STR haplotypes in ataxia-telangiectasia patients of differing ethnicities reveal ancestral founder effects;Campbell;Hum Mut,2003
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