1. Novel heterozygous STUB1 gene mutation causes SCA48 in a Hungarian patient.
- Author
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SZPISJAK, László, SALAMON, András, NÉMETH, Viola L., SZÉPFALUSI, Noémi, MARÓTI, Zoltán, KALMÁR, Tibor, ZIMMERMANN, Aliz, ZÁDORI, Dénes, and KLIVÉNYI, Péter
- Subjects
SPINOCEREBELLAR ataxia ,GENETIC mutation ,GENETIC disorders ,CEREBRAL atrophy ,PROTEIN microarrays ,MOVEMENT disorders - Abstract
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- Published
- 2023
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