P644: Spinocerebellar ataxia type 50: Recurrent p.(Gly389Arg) variant highlights a shared molecular mechanism and expands the clinical spectrum

Genetics in Medicine Open 2026 Open access

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Authors: Dandan He, Sho Yano, Samuel Li, Alexander Gary, Amy D. Mook, Hsuan Lu, Sharan R. Srinivasan, Peter K. Todd, Vikram G. Shakkottai, Soma Das
DOI: 10.1016/j.gimo.2026.104134
Cited by: 0

Fields of Study & Subjects

Genetic Neurodegenerative Diseases Hereditary Neurological Disorders Prion Diseases and Protein Misfolding

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
104134–104134
Publication date
1 January 2026
Language
EN