Articles with "stub1 variants" as a keyword



Photo from wikipedia

Correspondence on “Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment” by Roux et al.

Sign Up to like & get
recommendations!
Published in 2021 at "Genetics in Medicine"

DOI: 10.1038/s41436-021-01104-1

Abstract: With great interest, we read the publication by Roux et al. about the occurrence of STUB1 variants in mostly dominant cerebellar ataxias. We here provide data on heterozygous STUB1 variants observed in 46 patients in… read more here.

Keywords: cause; stub1; age; ataxia patients ... See more keywords