Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia
Author:
Funder
Helse Sør-Øst RHF
Norges Forskningsråd
Publisher
Public Library of Science (PLoS)
Subject
Multidisciplinary
Reference45 articles.
1. Classification of the hereditary ataxias and paraplegias;AE Harding;Lancet,1983
2. Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study;AK Erichsen;Brain,2009
3. Genetics and pathogenesis of inherited ataxias and spastic paraplegias;C Espinos;Adv Exp Med Biol,2009
4. Hereditary spastic paraplegia: clinical-genetic characteristics and evolving molecular mechanisms;T Lo Giudice;Exp Neurol,2014
5. Genetic cerebellar ataxias;E Storey;Semin Neurol,2014
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