Associated Papers
SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20.
Bryant D et al.
Human Molecular Genetics, 2018
Autosomal recessive spinocerebellar ataxia 20: Report of a new patient and review of literature.
Shukla A et al.
European Journal of Medical Genetics, 2017
Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome.
Thomas AC et al.
American Journal of Human Genetics, 2014
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