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A Novel Homozygous Variant of SETX Causes Ataxia with Oculomotor Apraxia Type 2

BACKGROUND AND PURPOSE: Autosomal recessive cerebellar ataxias constitute a highly heterogeneous group of neurodegenerative disorders. This study was carried out to determine the clinical and genetic causes of ataxia in two families from Pakistan. METHODS: Detailed clinical investigations were carri...

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Detalhes bibliográficos
Publicado no:J Clin Neurol
Main Authors: Tariq, Huma, Imran, Rashid, Naz, Sadaf
Formato: Artigo
Idioma:Inglês
Publicado em: Korean Neurological Association 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6172491/
https://ncbi.nlm.nih.gov/pubmed/30198223
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3988/jcn.2018.14.4.498
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