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;Clot, Fabienne;Méneret, Aurélie;de Sainte Agathe, Jean-Madeleine;Fung, Victor S C;Vidailhet, Marie;Baumann, Matthias;Marquardt, Thorsten;Winkelmann, Juliane;Boesch, Sylvia.Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement..Mov Disord.2022.37.1.137-147

Skorvanek, Matej;Rektorova, Irena;Mandemakers, Wim;Wagner, Matias;Steinfeld, Robert;Orec, Laura;Han, Vladimir;Pavelekova, Petra;Lackova, Alexandra;Kulcsarova, Kristina;Ostrozovicova, Miriam;Gdovinova, Zuzana;Plecko, Barbara;Brunet, Theresa;Berutti, Riccardo;Kuipers, Demy J S;Boumeester, Valerie;Havrankova, Petra;Tijssen, M A J;Kaiyrzhanov, Rauan;Rizig, Mie;Houlden, Henry;Winkelmann, Juliane;Bonifati, Vincenzo;Zech, Michael;Jech, Robert.WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia..Parkinsonism Relat Disord.2022.94.54-61

Neilson, Derek E;Zech, Michael;Hufnagel, Robert B;Slone, Jesse;Wang, Xinjian;Homan, Shelli;Gutzwiller, Lisa M;Leslie, Elizabeth J;Leslie, Nancy D;Xiao, Jianfeng;Hedera, Peter;LeDoux, Mark S;Gebelein, Brian;Wilbert, Friederike;Eckenweiler, Matthias;Winkelmann, Juliane;Gilbert, Donald L;Huang, Taosheng.A Novel Variant of ATP5MC3 Associated with Both Dystonia and Spastic Paraplegia..Mov Disord.2022.37.2.375-383

Xu, Manting;Kopajtich, Robert;Elstner, Matthias;Li, Hua;Liu, Zhimei;Wang, Junling;Prokisch, Holger;Fang, Fang.Identification of a novel m.3955G > A variant in MT-ND1 associated with Leigh syndrome..Mitochondrion.2022.62.13-23

Mirza-Schreiber, Nazanin;Zech, Michael;Wilson, Rory;Brunet, Theresa;Wagner, Matias;Jech, Robert;Boesch, Sylvia;Škorvánek, Matej;Necpál, Ján;Weise, David;Weber, Sandrina;Mollenhauer, Brit;Trenkwalder, Claudia;Maier, Esther M;Borggraefe, Ingo;Vill, Katharina;Hackenberg, Annette;Pilshofer, Veronika;Kotzaeridou, Urania;Schwaibold, Eva Maria Christina;Hoefele, Julia;Waldenberger, Melanie;Gieger, Christian;Peters, Annette;Meitinger, Thomas;Schormair, Barbara;Winkelmann, Juliane;Oexle, Konrad.Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset..Brain.2022.145.2.644-654