Prevalence of Carriers of Intermediate and Pathological Polyglutamine Disease–Associated Alleles Among Large Population-Based Cohorts

IMPORTANCE: Nine hereditary neurodegenerative diseases are known as polyglutamine diseases, including Huntington disease, 6 spinocerebellar ataxias (SCAs) (SCA1, SCA2, SCA3, SCA6, SCA7, and SCA17), dentatorubral-pallidoluysion atrophy, and spinal bulbar muscular atrophy. OBJECTIVE: To determine the...

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Enregistré dans:
Détails bibliographiques
Publié dans:JAMA Neurol
Auteurs principaux: Gardiner, Sarah L., Boogaard, Merel W., Trompet, Stella, de Mutsert, Renée, Rosendaal, Frits R., Gussekloo, Jacobijn, Jukema, J. Wouter, Roos, Raymund A. C., Aziz, N. Ahmad
Format: Artigo
Langue:Inglês
Publié: American Medical Association 2019
Sujets:
Original Investigation
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6563569/
https://ncbi.nlm.nih.gov/pubmed/30933216
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/jamaneurol.2019.0423
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