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

Michael Zech*, Kishore R. Kumar, Sophie Reining, Janine Reunert, Michel Tchan, Lisa G. Riley, Alexander P. Drew, Robert J. Adam, Riccardo Berutti, Saskia Biskup, Nicolas Derive, Somayeh Bakhtiari, Sheng Chih Jin, Michael C. Kruer, Tanya Bardakjian, Pedro Gonzalez-Alegre, Ignacio J. Keller Sarmiento, Niccolo E. Mencacci, Steven J. Lubbe, Manju A. KurianFabienne Clot, Aurélie Méneret, Jean Madeleine de Sainte Agathe, Victor S.C. Fung, Marie Vidailhet, Matthias Baumann, Thorsten Marquardt, Juliane Winkelmann, Sylvia Boesch

*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

19 Scopus citations

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Biochemistry, Genetics and Molecular Biology