Associated Papers
Exploring the Genetic Variations Underlying SNX14-Linked Autosomal Recessive Spinocerebellar Ataxia Type 20: A Case Series of 17 Patients From a Single Center in the Omani Population and Review of Literature.
Al Shamsi B et al.
American Journal of Medical Genetics. Part A, 2025
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
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.
Akizu N et al.
Nature Genetics, 2015
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