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Fine‐mapping of SNCA in REM sleep behavior disorder and overt synucleinopathies
Annals of Neurology ( IF 8.1 ) Pub Date : 2020-04-01 , DOI: 10.1002/ana.25687
Lynne Krohn 1, 2 , Richard Y J Wu 1, 3 , Karl Heilbron 4 , Jennifer A Ruskey 2, 5 , Sandra B Laurent 2, 5 , Cornelis Blauwendraat 6 , Armaghan Alam 1, 2 , Isabelle Arnulf 7 , Michele T M Hu 8, 9 , Yves Dauvilliers 10 , Birgit Högl 11 , Mathias Toft 12, 13 , Kari Anne Bjørnarå 12 , Ambra Stefani 11 , Evi Holzknecht 11 , Christelle Charley Monaca 14 , Beatriz Abril 15 , Giuseppe Plazzi 16, 17 , Elena Antelmi 16, 17 , Luigi Ferini-Strambi 18 , Peter Young 19 , Anna Heidbreder 19 , Valérie Cochen De Cock 20, 21 , Brit Mollenhauer 22, 23 , Friederike Sixel-Döring 22, 23 , Claudia Trenkwalder 22, 23 , Karel Sonka 24 , David Kemlink 24 , Michela Figorilli 25 , Monica Puligheddu 25 , Femke Dijkstra 26, 27 , Mineke Viaene 26, 27 , Wolfang Oertel 28 , Marco Toffoli 29, 30 , Gian Luigi Gigli 31, 32 , Mariarosaria Valente 29, 31 , Jean-François Gagnon 33, 34 , Mike A Nalls 35 , Andrew B Singleton 6 , 4 , Alex Desautels 33, 36 , Jacques Y Montplaisir 33, 37 , Paul Cannon 4 , Owen A Ross 38 , Bradley F Boeve 39 , Nicolas Dupré 40, 41 , Edward A Fon 2, 5 , Ronald B Postuma 2, 5, 33 , Lasse Pihlstrøm 12 , Guy A Rouleau 1, 2, 5 , Ziv Gan-Or 1, 2, 5
Affiliation  

Rapid eye movement sleep behavior disorder (RBD) is a prodromal synucleinopathy, as >80% will eventually convert to overt synucleinopathy. We performed an in‐depth analysis of the SNCA locus to identify RBD‐specific risk variants.

中文翻译:

SNCA 在 REM 睡眠行为障碍和明显突触核蛋白病中的精细定位

快速眼动睡眠行为障碍 (RBD) 是一种前驱性突触核蛋白病,因为 >80% 最终会转变为明显的突触核蛋白病。我们对 SNCA 基因座进行了深入分析,以确定 RBD 特定的风险变异。
更新日期:2020-04-01
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