Barbagiovanni, Giulia;Germain, Pierre-Luc;Zech, Michael;Atashpaz, Sina;Lo Riso, Pietro;D'Antonio-Chronowska, Agnieszka;Tenderini, Erika;Caiazzo, Massimiliano;Boesch, Sylvia;Jech, Robert;Haslinger, Bernhard;Broccoli, Vania;Stewart, Adrian Francis;Winkelmann, Juliane;Testa, Giuseppe
KMT2B Is Selectively Required for Neuronal Transdifferentiation, and Its Loss Exposes Dystonia Candidate Genes.
Cell Rep
2018
25
4
988-1001

Schormair, B.;Kemlink, D.;Mollenhauer, B.;Fiala, O.;Machetanz, G.;Roth, J.;Berutti, R.;Strom, T. M.;Haslinger, B.;Trenkwalder, C.;Zahorakova, D.;Martasek, P.;Ruzicka, E.;Winkelmann, J.
Diagnostic exome sequencing in early-onset Parkinson's disease confirms VPS13C as a rare cause of autosomal-recessive Parkinson's disease.
Clin Genet
2018
93
3
603-612

Pottier, Cyril;Zhou, Xiaolai;Perkerson, Ralph B;Baker, Matt;Jenkins, Gregory D;Serie, Daniel J;Ghidoni, Roberta;Benussi, Luisa;Binetti, Giuliano;López de Munain, Adolfo;Zulaica, Miren;Moreno, Fermin;Le Ber, Isabelle;Pasquier, Florence;Hannequin, Didier;Sánchez-Valle, Raquel;Antonell, Anna;Lladó, Albert;Parsons, Tammee M;Finch, NiCole A;Finger, Elizabeth C;Lippa, Carol F;Huey, Edward D;Neumann, Manuela;Heutink, Peter;Synofzik, Matthis;Wilke, Carlo;Rissman, Robert A;Slawek, Jaroslaw;Sitek, Emilia;Johannsen, Peter;Nielsen, Jørgen E;Ren, Yingxue;van Blitterswijk, Marka;DeJesus-Hernandez, Mariely;Christopher, Elizabeth;Murray, Melissa E;Bieniek, Kevin F;Evers, Bret M;Ferrari, Camilla;Rollinson, Sara;Richardson, Anna;Scarpini, Elio;Fumagalli, Giorgio G;Padovani, Alessandro;Hardy, John;Momeni, Parastoo;Ferrari, Raffaele;Frangipane, Francesca;Maletta, Raffaele;Anfossi, Maria;Gallo, Maura;Petrucelli, Leonard;Suh, Eunran;Lopez, Oscar L;Wong, Tsz H;van Rooij, Jeroen G J;Seelaar, Harro;Mead, Simon;Caselli, Richard J;Reiman, Eric M;Noel Sabbagh, Marwan;Kjolby, Mads;Nykjaer, Anders;Karydas, Anna M;Boxer, Adam L;Grinberg, Lea T;Grafman, Jordan;Spina, Salvatore;Oblak, Adrian;Mesulam, M-Marsel;Weintraub, Sandra;Geula, Changiz;Hodges, John R;Piguet, Olivier;Brooks, William S;Irwin, David J;Trojanowski, John Q;Lee, Edward B;Josephs, Keith A;Parisi, Joseph E;Ertekin-Taner, Nilüfer;Knopman, David S;Nacmias, Benedetta;Piaceri, Irene;Bagnoli, Silvia;Sorbi, Sandro;Gearing, Marla;Glass, Jonathan;Beach, Thomas G;Black, Sandra E;Masellis, Mario;Rogaeva, Ekaterina;Vonsattel, Jean-Paul;Honig, Lawrence S;Kofler, Julia;Bruni, Amalia C;Snowden, Julie;Mann, David;Pickering-Brown, Stuart;Diehl-Schmid, Janine;Winkelmann, Juliane;Galimberti, Daniela;Graff, Caroline;Öijerstedt, Linn;Troakes, Claire;Al-Sarraj, Safa;Cruchaga, Carlos;Cairns, Nigel J;Rohrer, Jonathan D;Halliday, Glenda M;Kwok, John B;Van Swieten, John C;White, Charles L;Ghetti, Bernardino;Murell, Jill R;Mackenzie, Ian R A;Hsiung, Ging-Yuek R;Borroni, Barbara;Rossi, Giacomina;Tagliavini, Fabrizio;Wszolek, Zbigniew K;Petersen, Ronald C;Bigio, Eileen H;Grossman, Murray;Van Deerlin, Vivianna M;Seeley, William W;Miller, Bruce L;Graff-Radford, Neill R;Boeve, Bradley F;Dickson, Dennis W;Biernacka, Joanna M;Rademakers, Rosa
Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.
Lancet Neurol
2018
17
6
548-558

Oexle, Konrad;Winkelmann, Juliane
Common Grounds for Family Maladies.
Neuron
2018
98
4
671-672

Mueller, S. H.;Girard, S. L.;Hopfner, F.;Merner, N. D.;Bourassa, C. V.;Lorenz, D.;Clark, L. N.;Tittmann, L.;Soto-Ortolaza, A. I.;Klebe, S.;Hallett, M.;Schneider, S. A.;Hodgkinson, C. A.;Lieb, W.;Franke, A.;Wszolek, Z. K.;Pendziwiat, M.;Lorenzo-Betancor, O.;Poewe, W.;Ortega-Cubero, S.;Seppi, K.;Rajput, A.;Hussl, A.;Rajput, A. H.;Berg, D.;Dion, P. A.;Wurster, I.;Shulman, J. M.;Srulijes, K.;Haubenberger, D.;Pastor, P.;Vilarino-Guell, C.;Postuma, R. B.;Bernard, G.;Ladwig, K.;Dupre, N.;Jankovic, J.;Strauch, K.;Panisset, M.;Winkelmann, J.;Testa, C. M.;Reischl, E.;Zeuner, K. E.;Ross, O. A.;Arzberger, T.;Chouinard, S.;Deuschl, G.;Louis, E. D.;Kuhlenbaumer, G.;Rouleau, G. A.
Genome-wide association study in essential tremor identifies three new loci
Eur J Hum Genet
2018
26
388-389

Salminen, Aaro V;Winkelmann, Juliane
Restless Legs Syndrome and Other Movement Disorders of Sleep-Treatment Update.
Curr Treat Options Neurol
2018
20
12

Trenkwalder, Claudia;Allen, Richard;Högl, Birgit;Clemens, Stefan;Patton, Stephanie;Schormair, Barbara;Winkelmann, Juliane
Comorbidities, treatment, and pathophysiology in restless legs syndrome.
Lancet Neurol
2018
17
11
994-1005

Winkelmann, Juliane;Allen, Richard P;Högl, Birgit;Inoue, Yuichi;Oertel, Wolfgang;Salminen, Aaro V;Winkelman, John W;Trenkwalder, Claudia;Sampaio, Cristina
Treatment of restless legs syndrome: Evidence-based review and implications for clinical practice (Revised 2017)§.
Mov Disord
2018
33
7
1077-1091

Bartl, M;Winkelmann, J;Hogl, B;Paulus, W;Trenkwalder, C
[Frequent neurological diseases associated with the restless legs syndrome].
Nervenarzt
2018
89
10
1156-1164

Zech, Michael;Lam, Daniel D;Weber, Sandrina;Berutti, Riccardo;Poláková, Kamila;Havránková, Petra;Fečíková, Anna;Strom, Tim M;Ruzicka, Evzen;Jech, Robert;Winkelmann, Juliane
A unique de novo gain-of-function variant in CAMK4 associated with intellectual disability and hyperkinetic movement disorder.
Cold Spring Harb Mol Case Stud
2018
4
6