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Titel:

Candidate variants in TUB are associated with familial tremor.

Dokumenttyp:
Article; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Autor(en):
Sailani, M Reza; Jahanbani, Fereshteh; Abbott, Charles W; Lee, Hayan; Zia, Amin; Rego, Shannon; Winkelmann, Juliane; Hopfner, Franziska; Khan, Tahir N; Katsanis, Nicholas; Müller, Stefanie H; Berg, Daniela; Lyman, Katherine M; Mychajliw, Christian; Deuschl, Günther; Bernstein, Jonathan A; Kuhlenbäumer, Gregor; Snyder, Michael P
Abstract:
Essential tremor (ET) is the most common adult-onset movement disorder. In the present study, we performed whole exome sequencing of a large ET-affected family (10 affected and 6 un-affected family members) and identified a TUB p.V431I variant (rs75594955) segregating in a manner consistent with autosomal-dominant inheritance. Subsequent targeted re-sequencing of TUB in 820 unrelated individuals with sporadic ET and 630 controls revealed significant enrichment of rare nonsynonymous TUB variants...     »
Zeitschriftentitel:
PLoS Genet
Jahr:
2020
Band / Volume:
16
Heft / Issue:
9
Volltext / DOI:
doi:10.1371/journal.pgen.1009010
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/32956375
Print-ISSN:
1553-7390
TUM Einrichtung:
Lehrstuhl für Neurogenetik (Prof. Winkelmann)
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