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Titel:

Rare variants in LRRK1 and Parkinson's disease.

Dokumenttyp:
Journal Article; Article
Autor(en):
Schulte, Eva C; Ellwanger, Daniel C; Dihanich, Sybille; Manzoni, Claudia; Stangl, Katrin; Schormair, Barbara; Graf, Elisabeth; Eck, Sebastian; Mollenhauer, Brit; Haubenberger, Dietrich; Pirker, Walter; Zimprich, Alexander; Brücke, Thomas; Lichtner, Peter; Peters, Annette; Gieger, Christian; Trenkwalder, Claudia; Mewes, Hans-Werner; Meitinger, Thomas; Lewis, Patrick A; Klünemann, Hans H; Winkelmann, Juliane
Abstract:
Approximately 20 % of individuals with Parkinson's disease (PD) report a positive family history. Yet, a large portion of causal and disease-modifying variants is still unknown. We used exome sequencing in two affected individuals from a family with late-onset PD to identify 15 potentially causal variants. Segregation analysis and frequency assessment in 862 PD cases and 1,014 ethnically matched controls highlighted variants in EEF1D and LRRK1 as the best candidates. Mutation screening of the co...     »
Zeitschriftentitel:
Neurogenetics
Jahr:
2014
Band / Volume:
15
Heft / Issue:
1
Seitenangaben Beitrag:
49-57
Sprache:
eng
Volltext / DOI:
doi:10.1007/s10048-013-0383-8
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/24241507
Print-ISSN:
1364-6745
TUM Einrichtung:
Institut für Humangenetik; Neurologische Klinik und Poliklinik
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