Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement

Zech, M; Kumar, KR; Reining, S; Reunert, J; Tchan, M; Riley, LG; Drew, AP; Adam, RJ; Berutti, R; Biskup, S; Derive, N; Bakhtiari, S; Jin, SC; Kruer, MC; Bardakjian, T; Gonzalez-Alegre, P; Sarmiento, IJK; Mencacci, NE; Lubbe, SJ; Kurian, MA; Clot, F; Meneret, A; Agathe, JMD; Fung, VSC; Vidailhet, M; Baumann, M; Marquardt, T; Winkelmann, J; Boesch, S

Zech, M (通讯作者)，Deutsch Forschungszentrum Gesundheit & Umwelt Gmb, Helmholtz Zentrum Munchen, Inst Neurogen, Ingolstadter Landstr 1, D-85764 Neuherberg, Germany.

MOVEMENT DISORDERS, 2022; 37 (1): 137

Abstract

Background Monogenic causes of isolated dystonia are heterogeneous. Assembling cohorts of affected individuals sufficiently large to establish new gen......

Full Text Link


Links

期刊讨论 | 中国SCI论文 | 期刊主页 | 投稿经验 | 杂志官网 | 投稿链接 | 作者需知 | PMC链接 | Pubmed全文检索