Paediatric and adult recessive ataxias (update 6)
Author:
Publisher
Elsevier BV
Subject
Clinical Neurology,General Medicine,Pediatrics, Perinatology, and Child Health
Reference48 articles.
1. In cis autosomal dominant mutation of senataxin associated with tremor/ataxia syndrome;Bassuk;Neurogenetics,2007
2. Nonprogressive autosomal recessive ataxia maps to chromosome 9q34–9qter in a large consanguineous Lebanese family;Delague;Ann Neurol,2001
3. 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;Eur J Hum Genet,2000
4. A form of inherited cerebellar ataxia with saccadic intrusions, increased speed, sensory neuropathy, and myoclonus;Swartz;Ann N Y Acad Sci,2002
5. New autosomal recessive non-progressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities (CAMOS) maps to chromosome 15q24–q26 in a large consanguineous Lebanese Druze family;Delague;Neurogenetics,2002
Cited by 1 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Epidemiology of Hereditary Ataxias in Spain: Hospital Discharge Registry and Population-Based Mortality Study;Neuroepidemiology;2013
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