SNX14

Publications

Sait H et al. Autosomal recessive spinocerebellar ataxia-20 due to a novel SNX14 variant in an Indian girl. Am J Med Genet A. 2022;188(6):1909-14. PMID: 35195341.

Shukla A et al. Autosomal recessive spinocerebellar ataxia 20: Report of a new patient and review of literature. Eur J Med Genet. 2017;60(2):118-23. PMID: 27913285.

Thomas AC et al. Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome. Am J Hum Genet. 2014;95(5):611-21. PMID: 25439728.

Akizu N et al. Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction. Nat Genet. 2015;47(5):528-34. PMID: 25848753.

Al-Hashmi N et al. Exome Sequencing Identifies a Novel Sorting Nexin 14 Gene Mutation Causing Cerebellar Atrophy and Intellectual Disability. Case Rep Genet. 2018;2018:6737938. PMID: 30473892.

Maia N et al. Two Compound Heterozygous Variants in SNX14 Cause Stereotypies and Dystonia in Autosomal Recessive Spinocerebellar Ataxia 20. Front Genet. 2020;11:1038. PMID: 33193593.