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Titel:

Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study.

Dokumenttyp:
journal article
Autor(en):
Hensman Moss, Davina J; Pardiñas, Antonio F; Langbehn, Douglas; Lo, Kitty; Leavitt, Blair R; Roos, Raymund; Durr, Alexandra; Mead, Simon; TRACK-HD investigators; REGISTRY investigators; Holmans, Peter; Jones, Lesley; Tabrizi, Sarah J; Coleman, A; Santos, R Dar; Decolongon, J; Sturrock, A; Bardinet, E; Ret, C Jauff; Justo, D; Lehericy, S; Marelli, C; Nigaud, K; Valabrègue, R; van den Bogaard, Sja; Dumas, E M; van der Grond, J; t'Hart, E P; Jurgens, C; Witjes-Ane, M-N; Arran, N; Callaghan, J; Stop...     »
Abstract:
Huntington's disease is caused by a CAG repeat expansion in the huntingtin gene, HTT. Age at onset has been used as a quantitative phenotype in genetic analysis looking for Huntington's disease modifiers, but is hard to define and not always available. Therefore, we aimed to generate a novel measure of disease progression and to identify genetic markers associated with this progression measure.We generated a progression score on the basis of principal component analysis of prospectively acquired...     »
Zeitschriftentitel:
Lancet Neurol
Jahr:
2017
Band / Volume:
16
Heft / Issue:
9
Seitenangaben Beitrag:
701-711
Sprache:
eng
Volltext / DOI:
doi:10.1016/S1474-4422(17)30161-8
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/28642124
Print-ISSN:
1474-4422
TUM Einrichtung:
Lehrstuhl für Neurogenetik (Fr. Prof. Winkelmann)
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