학술논문
'학술논문'
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Academic Journal
Schierling, Tobias; Tosi, Beatrice; Eisenhardt, Clara; Reining, Sophie; Daniliuc, Constantin G.; Brenker, Christoph; Strünker, Timo; Wünsch, Bernhard
ACS Pharmacology & Translational Science; 1/13/2023, Vol. 6 Issue 1, p115-127, 13p
Academic Journal
Zech, Michael; Kumar, Kishore R.; Reining, Sophie; Reunert, Janine; Tchan, Michel; Riley, Lisa G.; Drew, Alexander P.; Adam, Robert J.; Berutti, Riccardo; Biskup, Saskia; Derive, Nicolas; Bakhtiari, Somayeh; Jin, Sheng Chih; Kruer, Michael C.; Bardakjian, Tanya; Gonzalez‐Alegre, Pedro; Keller Sarmiento, Ignacio J.; Mencacci, Niccolo E.; Lubbe, Steven J.; Kurian, Manju A.
Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement
Academic Journal
Zech, Michael; Kumar, Kishore R.; Reining, Sophie; Reunert, Janine; Tchan, Michel; Riley, Lisa G.; Drew, Alexander P.; Adam, Robert J.; Berutti, Riccardo; Biskup, Saskia; Derive, Nicolas; Bakhtiari, Somayeh; Jin, Sheng Chih; Kruer, Michael C.; Bardakjian, Tanya; Gonzalez-Alegre, Pedro; Sarmiento, Ignacio J. Keller; Mencacci, Niccolo E.; Lubbe, Steven J.; Kurian, Manju A.; Clot, Fabienne; Meneret, Aurelie; Agathe, Jean-Madeleine de Sainte; Fung, Victor S. C.; Vidailhet, Marie; Baumann, Matthias; Marquardt, Thorsten; Winkelmann, Juliane; Boesch, Sylvia
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[AR] Reining, Sophie
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