Ataxia and Parkinsonism in a Woman With a VCP Variant and Long-Normal Repeats in the SCA2 Allele.

Autor: Kirby AE; Department of Neurological Sciences (A.E.K., K.K.), Rush University Medical Center, Chicago, IL; and Division of Genetics and Genomic Medicine (V.K.), Department of Pediatrics, University of California, Irvine., Kimonis V; Department of Neurological Sciences (A.E.K., K.K.), Rush University Medical Center, Chicago, IL; and Division of Genetics and Genomic Medicine (V.K.), Department of Pediatrics, University of California, Irvine., Kompoliti K; Department of Neurological Sciences (A.E.K., K.K.), Rush University Medical Center, Chicago, IL; and Division of Genetics and Genomic Medicine (V.K.), Department of Pediatrics, University of California, Irvine.
Jazyk: angličtina
Zdroj: Neurology. Genetics [Neurol Genet] 2021 Jul 07; Vol. 7 (4), pp. e595. Date of Electronic Publication: 2021 Jul 07 (Print Publication: 2021).
DOI: 10.1212/NXG.0000000000000595
Databáze: MEDLINE