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

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

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

Zech, Michael;Brunet, Theresa;Škorvánek, Matej;Blaschek, Astrid;Vill, Katharina;Hanker, Britta;Hüning, Irina;Haň, Vladimír;Došekova, Petra;Gdovinová, Zuzana;Alhaddad, Bader;Berutti, Riccardo;Strom, Tim M;Růžička, Evžen;Kamsteeg, Erik-Jan;van der Smagt, Jasper J;Wagner, Matias;Jech, Robert;Winkelmann, Juliane
Recessive null-allele variants in MAG associated with spastic ataxia, nystagmus, neuropathy, and dystonia.
Parkinsonism Relat Disord
2020
77
70-75

Singh, Sakshi;Gupta, Aditi;Zech, Michael;Sigafoos, Ashley N;Clark, Karl J;Dincer, Yasemin;Wagner, Matias;Humberson, Jennifer B;Green, Sarah;van Gassen, Koen;Brandt, Tracy;Schnur, Rhonda E;Millan, Francisca;Si, Yue;Mall, Volker;Winkelmann, Juliane;Gavrilova, Ralitza H;Klee, Eric W;Engleman, Kendra;Safina, Nicole P;Slaugh, Rachel;Bryant, Emily M;Tan, Wen-Hann;Granadillo, Jorge;Misra, Sunita N;Schaefer, G Bradley;Towner, Shelley;Brilstra, Eva H;Koeleman, Bobby P C
De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy.
Genet Med
2020
22
8
1413-1417