Hopfner, Franziska;Mueller, Stefanie H;Szymczak, Silke;Junge, Olaf;Tittmann, Lukas;May, Sandra;Lohmann, Katja;Grallert, Harald;Lieb, Wolfgang;Strauch, Konstantin;Müller-Nurasyid, Martina;Berger, Klaus;Schormair, Barbara;Winkelmann, Juliane;Mollenhauer, Brit;Trenkwalder, Claudia;Maetzler, Walter;Berg, Daniela;Kasten, Meike;Klein, Christine;Höglinger, Günter U;Gasser, Thomas;Deuschl, Günther;Franke, André;Krawczak, Michael;Dempfle, Astrid;Kuhlenbäumer, Gregor.Private variants in PRKN are associated with late-onset Parkinson's disease..Parkinsonism Relat Disord.2020.75.24-26

Weber, S.;Zech, M.;Boesch, S.;Winkelmann, J..Recessive CWF19L1 mutations in a family with dystonia-ataxia syndrome.Mov Disord.2020.35 Suppl 1.S574-S574

Necpál, Ján;Zech, Michael;Valachová, Alica;Sedláček, Zdeněk;Bendová, Šárka;Hančárová, Miroslava;Okáľová, Katarína;Winkelmann, Juliane;Jech, Robert.Severe paroxysmal dyskinesias without epilepsy in a RHOBTB2 mutation carrier..Parkinsonism Relat Disord.2020.77.87-88

Zech, Michael;Bardakjian, Tanya M;Stoklosa, Malgorzata;Ploski, Rafal;Jech, Robert;Gonzalez-Alegre, Pedro;Winkelmann, Juliane.A Neurodevelopmental Disorder With Dystonia and Chorea Resulting From Clustering CAMK4 Variants..Mov Disord.2021.36.2.520-521

Hopfner, F.;Mueller, S. M.;Szymczak, S. S.;Junge, O.;Tittmann, L.;May, S.;Lohmann, K.;Grallert, G.;Schormair, B.;Winkelmann, J.;Mollenhauer, B.;Trenkwalder, C.;Maetzler, W.;Berg, D.;Kasten, M.;Klein, C.;Hoeglinger, G.;Gasser, T.;Deuschl, G.;Franke, A.;Krawczak, M.;Dempfle, A.;Kuhlenbaeumer, G..Moderately frequent and private variants in PRKN are associated with late-onset Parkinson's disease.Mov Disord.2020.35 Suppl 1.S198-S199

Steel, Dora;Zech, Michael;Zhao, Chen;Barwick, Katy E S;Burke, Derek;Demailly, Diane;Kumar, Kishore R;Zorzi, Giovanna;Nardocci, Nardo;Kaiyrzhanov, Rauan;Wagner, Matias;Iuso, Arcangela;Berutti, Riccardo;Škorvánek, Matej;Necpál, Ján;Davis, Ryan;Wiethoff, Sarah;Mankad, Kshitij;Sudhakar, Sniya;Ferrini, Arianna;Sharma, Suvasini;Kamsteeg, Erik-Jan;Tijssen, Marina A;Verschuuren, Corien;van Egmond, Martje E;Flowers, Joanna M;McEntagart, Meriel;Tucci, Arianna;Coubes, Philippe;Bustos, Bernabe I;Gonzalez-Latapi, Paulina;Tisch, Stephen;Darveniza, Paul;Gorman, Kathleen M;Peall, Kathryn J;Bötzel, Kai;Koch, Jan C;Kmieć, Tomasz;Plecko, Barbara;Boesch, Sylvia;Haslinger, Bernhard;Jech, Robert;Garavaglia, Barbara;Wood, Nick;Houlden, Henry;Gissen, Paul;Lubbe, Steven J;Sue, Carolyn M;Cif, Laura;Mencacci, Niccolò E;Anderson, Glenn;Kurian, Manju A;Winkelmann, Juliane.Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities..Ann Neurol.2020.88.5.867-877

Hopfner, Franziska;Mueller, Stefanie H;Szymczak, Silke;Junge, Olaf;Tittmann, Lukas;May, Sandra;Lohmann, Katja;Grallert, Harald;Lieb, Wolfgang;Strauch, Konstantin;Müller-Nurasyid, Martina;Berger, Klaus;Schormair, Barbara;Winkelmann, Juliane;Mollenhauer, Brit;Trenkwalder, Claudia;Maetzler, Walter;Berg, Daniela;Kasten, Meike;Klein, Christine;Höglinger, Günter U;Gasser, Thomas;Deuschl, Günther;Franke, André;Krawczak, Michael;Dempfle, Astrid;Kuhlenbäumer, Gregor.Rare Variants in Specific Lysosomal Genes Are Associated With Parkinson's Disease..Mov Disord.2020.35.7.1245-1248

Salminen, Aaro V;Schandra, Nathalie;Schormair, Barbara;Oexle, Konrad;Winkelmann, Juliane.Therapeutic effectiveness of thalidomide in a patient with treatment-resistant restless legs syndrome..J Clin Sleep Med.2020.16.10.1815-1817

Brunet, Theresa;McWalter, Kirsty;Mayerhanser, Katharina;Anbouba, Grace M;Armstrong-Javors, Amy;Bader, Ingrid;Baugh, Evan;Begtrup, Amber;Bupp, Caleb P;Callewaert, Bert L;Cereda, Anna;Cousin, Margot A;Jimenez, Juan C Del Rey;Demmer, Laurie;Dsouza, Nikita R;Fleischer, Nicole;Gavrilova, Ralitza H;Ghate, Sumedha;Graf, Elisabeth;Green, Andrew;Green, Sarah R;Iascone, Maria;Kdissa, Ameni;Klee, Dirk;Klee, Eric W;Lancaster, Emily;Lindstrom, Kristin;Mayr, Johannes A;McEntagart, Meriel;Meeks, Naomi J L;Mittag, Dana;Moore, Harrison;Olsen, Anne K;Ortiz, Damara;Parsons, Gretchen;Pena, Loren D M;Person, Richard E;Punj, Sumit;Ramos-Rivera, Gonzalo Alonso;Sacoto, Maria J Guillen;Bradley Schaefer, G;Schnur, Rhonda E;Scott, Tiana M;Scott, Daryl A;Serbinski, Carolyn R;Shashi, Vandana;Siu, Victoria M;Stadheim, Barbro Fossøy;Sullivan, Jennifer A;Švantnerová, Jana;Velsher, Lea;Wargowski, David S;Wentzensen, Ingrid M;Wieczorek, Dagmar;Winkelmann, Juliane;Yap, Patrick;Zech, Michael;Zimmermann, Michael T;Meitinger, Thomas;Distelmaier, Felix;Wagner, Matias.Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder..Genet Med.2021.23.2.384-395

Sailani, M Reza;Jahanbani, Fereshteh;Abbott, Charles W;Lee, Hayan;Zia, Amin;Rego, Shannon;Winkelmann, Juliane;Hopfner, Franziska;Khan, Tahir N;Katsanis, Nicholas;Müller, Stefanie H;Berg, Daniela;Lyman, Katherine M;Mychajliw, Christian;Deuschl, Günther;Bernstein, Jonathan A;Kuhlenbäumer, Gregor;Snyder, Michael P.Candidate variants in TUB are associated with familial tremor..PLoS Genet.2020.16.9