Heterozygous STUB1 missense variants cause ataxia, cognitive decline, and STUB1 mislocalization

OBJECTIVE: To identify the genetic cause of autosomal dominant ataxia complicated by behavioral abnormalities, cognitive decline, and autism in 2 families and to characterize brain neuropathologic signatures of dominant STUB1-related ataxia and investigate the effects of pathogenic variants on STUB1...

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Pubblicato in:Neurol Genet
Autori principali: Chen, Dong-Hui, Latimer, Caitlin, Yagi, Mayumi, Ndugga-Kabuye, Mesaki Kenneth, Heigham, Elyana, Jayadev, Suman, Meabon, James S., Gomez, Christopher M., Keene, C. Dirk, Cook, David G., Raskind, Wendy H., Bird, Thomas D.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Wolters Kluwer 2020
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7073456/
https://ncbi.nlm.nih.gov/pubmed/32211513
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000397
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