Ollila, Hanna M;Sharon, Eilon;Lin, Ling;Sinnott-Armstrong, Nasa;Ambati, Aditya;Yogeshwar, Selina M;Hillary, Ryan P;Jolanki, Otto;Faraco, Juliette;Einen, Mali;Luo, Guo;Zhang, Jing;Han, Fang;Yan, Han;Dong, Xiao Song;Li, Jing;Zhang, Jun;Hong, Seung-Chul;Kim, Tae Won;Dauvilliers, Yves;Barateau, Lucie;Lammers, Gert Jan;Fronczek, Rolf;Mayer, Geert;Santamaria, Joan;Arnulf, Isabelle;Knudsen-Heier, Stine;Bredahl, May Kristin Lyamouri;Thorsby, Per Medbøe;Plazzi, Giuseppe;Pizza, Fabio;Moresco, Monica;Crowe, Catherine;Van den Eeden, Stephen K;Lecendreux, Michel;Bourgin, Patrice;Kanbayashi, Takashi;Martínez-Orozco, Francisco J;Peraita-Adrados, Rosa;Benetó, Antonio;Montplaisir, Jacques;Desautels, Alex;Huang, Yu-Shu;Jennum, Poul;Nevsimalova, Sona;Kemlink, David;Iranzo, Alex;Overeem, Sebastiaan;Wierzbicka, Aleksandra;Geisler, Peter;Sonka, Karel;Honda, Makoto;Högl, Birgit;Stefani, Ambra;Coelho, Fernando Morgadinho;Mantovani, Vilma;Feketeova, Eva;Wadelius, Mia;Eriksson, Niclas;Smedje, Hans;Hallberg, Pär;Hesla, Per Egil;Rye, David;Pelin, Zerrin;Ferini-Strambi, Luigi;Bassetti, Claudio L;Mathis, Johannes;Khatami, Ramin;Aran, Adi;Nampoothiri, Sheela;Olsson, Tomas;Kockum, Ingrid;Partinen, Markku;Perola, Markus;Kornum, Birgitte R;Rueger, Sina;Winkelmann, Juliane;Miyagawa, Taku;Toyoda, Hiromi;Khor, Seik-Soon;Shimada, Mihoko;Tokunaga, Katsushi;Rivas, Manuel;Pritchard, Jonathan K;Risch, Neil;Kutalik, Zoltan;O'Hara, Ruth;Hallmayer, Joachim;Ye, Chun Jimmie;Mignot, Emmanuel J
Narcolepsy risk loci outline role of T cell autoimmunity and infectious triggers in narcolepsy.
Nat Commun
2023
14
1

Brugger, Melanie;Zhen, Yan;Caporali, Leonardo;Brech, Andreas;Sorensen, Vigdis;Kopajtich, Robert;Zott, Benedikt;Kreiser, Kornelia;Strobl-Wildemann, Gertrud;Radio, Francesca Clementina;Lauri, Antonella;Carrozzo, Rosalba;Fiorini, Claudio;La Morgia, Chiara;Ziccardi, Lucia;Cordeddu, Viviana;Zampino, Giuseppe;Arelin, Maria;Blechschmidt, Christiane;Prokisch, Holger;Michaelson-Cohen, Rachel;Daum, Hagit;Abou Jamra, Rami;Arzberger, Thomas;Winkelmann, Juliane;Sekulic, Nikolina;Carelli, Valerio;Tartaglia, Marco;Stenmark, Harald;Wagner, Matias
Biallelic variants in the ESCRT-II subunit SNF8 cause either early-onset lethal leukoencephalopathy or childhood onset optic atrophy
Eur J Hum Genet
2023
31 Suppl 1
499-499

Necpál, Ján;Winkelmann, Juliane;Zech, Michael;Jech, Robert
A de novo GRIA3 variant with complex hyperkinetic movement disorder in a girl with developmental delay and self-limited epilepsy.
Parkinsonism Relat Disord
2023
111

Harrer, Philip;Škorvánek, Matej;Kittke, Volker;Dzinovic, Ivana;Borngräber, Friederike;Thomsen, Mirja;Mandel, Vanessa;Svorenova, Tatiana;Ostrozovicova, Miriam;Kulcsarova, Kristina;Berutti, Riccardo;Busch, Hauke;Ott, Fabian;Kopajtich, Robert;Prokisch, Holger;Kumar, Kishore R;Mencacci, Niccolo E;Kurian, Manju A;Di Fonzo, Alessio;Boesch, Sylvia;Kühn, Andrea A;Blümlein, Ulrike;Lohmann, Katja;Haslinger, Bernhard;Weise, David;Jech, Robert;Winkelmann, Juliane;Zech, Michael
Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation Dysfunction.
Mov Disord
2023
38
10
1914-1924

Vollstedt, Eva-Juliane;Schaake, Susen;Lohmann, Katja;Padmanabhan, Shalini;Brice, Alexis;Lesage, Suzanne;Tesson, Christelle;Vidailhet, Marie;Wurster, Isabel;Hentati, Faycel;Mirelman, Anat;Giladi, Nir;Marder, Karen;Waters, Cheryl;Fahn, Stanley;Kasten, Meike;Brüggemann, Norbert;Borsche, Max;Foroud, Tatiana;Tolosa, Eduardo;Garrido, Alicia;Annesi, Grazia;Gagliardi, Monica;Bozi, Maria;Stefanis, Leonidas;Ferreira, Joaquim J;Correia Guedes, Leonor;Avenali, Micol;Petrucci, Simona;Clark, Lorraine;Fedotova, Ekaterina Y;Abramycheva, Natalya Y;Alvarez, Victoria;Menéndez-González, Manuel;Jesús Maestre, Silvia;Gómez-Garre, Pilar;Mir, Pablo;Belin, Andrea Carmine;Ran, Caroline;Lin, Chin-Hsien;Kuo, Ming-Che;Crosiers, David;Wszolek, Zbigniew K;Ross, Owen A;Jankovic, Joseph;Nishioka, Kenya;Funayama, Manabu;Clarimon, Jordi;Williams-Gray, Caroline H;Camacho, Marta;Cornejo-Olivas, Mario;Torres-Ramirez, Luis;Wu, Yih-Ru;Lee-Chen, Guey-Jen;Morgadinho, Ana;Pulkes, Teeratorn;Termsarasab, Pichet;Berg, Daniela;Kuhlenbäumer, Gregor;Kühn, Andrea A;Borngräber, Friederike;de Michele, Giuseppe;De Rosa, Anna;Zimprich, Alexander;Puschmann, Andreas;Mellick, George D;Dorszewska, Jolanta;Carr, Jonathan;Ferese, Rosangela;Gambardella, Stefano;Chase, Bruce;Markopoulou, Katerina;Satake, Wataru;Toda, Tatsushi;Rossi, Malco;Merello, Marcelo;Lynch, Timothy;Olszewska, Diana A;Lim, Shen-Yang;Ahmad-Annuar, Azlina;Tan, Ai Huey;Al-Mubarak, Bashayer;Hanagasi, Hasmet;Koziorowski, Dariusz;Ertan, Sibel;Genç, Gençer;de Carvalho Aguiar, Patricia;Barkhuizen, Melinda;Pimentel, Marcia M G;Saunders-Pullman, Rachel;van de Warrenburg, Bart;Bressman, Susan;Toft, Mathias;Appel-Cresswell, Silke;Lang, Anthony E;Skorvanek, Matej;Boon, Agnita J W;Krüger, Rejko;Sammler, Esther M;Tumas, Vitor;Zhang, Bao-Rong;Garraux, Gaetan;Chung, Sun Ju;Kim, Yun Joong;Winkelmann, Juliane;Sue, Carolyn M;Tan, Eng-King;Damásio, Joana;Klivényi, Péter;Kostic, Vladimir S;Arkadir, David;Martikainen, Mika;Borges, Vanderci;Hertz, Jens Michael;Brighina, Laura;Spitz, Mariana;Suchowersky, Oksana;Riess, Olaf;Das, Parimal;Mollenhauer, Brit;Gatto, Emilia M;Petersen, Maria Skaalum;Hattori, Nobutaka;Wu, Ruey-Meei;Illarioshkin, Sergey N;Valente, Enza Maria;Aasly, Jan O;Aasly, Anna;Alcalay, Roy N;Thaler, Avner;Farrer, Matthew J;Brockmann, Kathrin;Corvol, Jean-Christophe;Klein, Christine
Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort.
Mov Disord
2023
38
2
286-303

Dzinovic, Ivana;Graf, Elisabeth;Brugger, Melanie;Berutti, Riccardo;Příhodová, Iva;Blaschek, Astrid;Winkelmann, Juliane;Jech, Robert;Vill, Katharina;Zech, Michael
Challenges in Establishing the Diagnosis of PRRT2-Related Dystonia: Recurrent Pathogenic Variants in a Homopolymeric Stretch.
Mov Disord Clin Pract
2023
10
7
1159-1161

Dzinovic, Ivana;Boesch, Sylvia;Skorvanek, Matej;Necpal, Jan;Svantnerova, Jana;Pavelekova, Petra;Havrankova, Petra;Tsoma, Eugenia;Indelicato, Elisabetta;Runkel, Eva;Held, Valentin;Weise, David;Janzarik, Wibke;Eckenweiler, Matthias;Berweck, Steffen;Mall, Volker;Haslinger, Bernhard;Jech, Robert;Winkelmann, Juliane;Zech, Michael
Genetic overlap between dystonia and other neurologic disorders: a study of 1,100 exomes
Eur J Hum Genet
2023
31 Suppl 1
467-468

Oexle, Konrad;Zech, Michael;Stühn, Lara G;Siegert, Sandy;Brunet, Theresa;Schmidt, Wolfgang M;Wagner, Matias;Schmidt, Axel;Engels, Hartmut;Tilch, Erik;Monestier, Olivier;Destrėe, Anne;Hanker, Britta;Boesch, Sylvia;Jech, Robert;Berutti, Riccardo;Kaiser, Frank;Haslinger, Bernhard;Haack, Tobias B;Garavaglia, Barbara;Krawitz, Peter;Winkelmann, Juliane;Mirza-Schreiber, Nazanin
Episignature analysis of moderate effects and mosaics.
Eur J Hum Genet
2023
31
9
1032-1039

Smallwood, Kelly;Watt, Kristin E N;Ide, Satoru;Baltrunaite, Kristina;Brunswick, Chad;Inskeep, Katherine;Capannari, Corrine;Adam, Margaret P;Begtrup, Amber;Bertola, Debora R;Demmer, Laurie;Demo, Erin;Devinsky, Orrin;Gallagher, Emily R;Guillen Sacoto, Maria J;Jech, Robert;Keren, Boris;Kussmann, Jennifer;Ladda, Roger;Lansdon, Lisa A;Lunke, Sebastian;Mardy, Anne;McWalters, Kirsty;Person, Richard;Raiti, Laura;Saitoh, Noriko;Saunders, Carol J;Schnur, Rhonda;Skorvanek, Matej;Sell, Susan L;Slavotinek, Anne;Sullivan, Bonnie R;Stark, Zornitza;Symonds, Joseph D;Wenger, Tara;Weber, Sacha;Whalen, Sandra;White, Susan M;Winkelmann, Juliane;Zech, Michael;Zeidler, Shimriet;Maeshima, Kazuhiro;Stottmann, Rolf W;Trainor, Paul A;Weaver, K Nicole
POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies.
Am J Hum Genet
2023
110
5
809-825

Nasca, Alessia;Mencacci, Niccolò E;Invernizzi, Federica;Zech, Michael;Keller Sarmiento, Ignacio J;Legati, Andrea;Frascarelli, Chiara;Bustos, Bernabe I;Romito, Luigi M;Krainc, Dimitri;Winkelmann, Juliane;Carecchio, Miryam;Nardocci, Nardo;Zorzi, Giovanna;Prokisch, Holger;Lubbe, Steven J;Garavaglia, Barbara;Ghezzi, Daniele
Variants in ATP5F1B are associated with dominantly inherited dystonia.
Brain
2023
146
7
2730-2738

Grofik, M;Cibulka, M;Olekšakova, J;Turčanova Koprušakova, M;Galanda, T;Necpal, J;Jungova, P;Kurča, E;Winkelmann, J;Zech, M;Jech, R
Correction: A case of novel DYT6 dystonia variant with serious complications after deep brain stimulation therapy: a case report.
BMC Neurol
2022
22
1

Grofik, M;Cibulka, M;Olekšáková, J;Turčanová Koprušáková, M;Galanda, T;Necpál, J;Jungová, P;Kurča, E;Winkelmann, J;Zech, M;Jech, R
A case of novel DYT6 dystonia variant with serious complications after deep brain stimulation therapy: a case report.
BMC Neurol
2022
22
1

Harrer, P.;Folberth, J.;Zhao, C.;Schormair, B.;Tilch, E.;Gieger, C.;Peters, A.;Oexle, K.;Schwaninger, M.;Winkelmann, J.
METHYLGLYOXAL - A CENTRAL METABOLIC FACTOR IN RESTLESS LEGS SYNDROME?
Sleep Med
2022
100 Suppl 1
S231-S231

Neuser, Sonja;Brechmann, Barbara;Heimer, Gali;Brosse, Ines;Schubert, Susanna;O'Grady, Lauren;Zech, Michael;Srivastava, Siddharth;Sweetser, David A.;Dincer, Yasemin;Mall, Volker;Winkelmann, Juliane;Behrends, Christian;Darras, Basil T.;Graham, Robert J.;Jayakar, Parul;Byrne, Barry;El Bar-Aluma, Bat;Haberman, Yael;Szeinberg, Amir;Aldhalaan, Hesham M.;Hashem, Mais;Tenaiji, Amal A.;Ibrahim, Shahnaz;Khan, Fatima;Houlden, Henry;Ramakumaran, Vijayalakshmi S.;Pagnamenta, Alistair T.;Posey, Jennifer E.;Lupski, James R.;Tan, Wen-Hann;ElGhazali, Gehad;Herman, Isabella;Munoz, Tatiana;Repetto, Gabriela M.;Seitz, Angelika;Krumbiegel, Mandy;Poli, M. Cecilia;Kini, Usha;Efthymiou, Stephanie;Meiler, Jens;Maroofian, Reza;Alkur-Aya, Fowzan S.;Abou Jamra, Rami;Ben Zeev, Bruria;Ebrahimi-Fakhari, Darius;Popp, Bernt
Beyond founder and truncting variants in TECPR2-associated disorder
Eur J Hum Genet
2022
30 Suppl 1
SUPPL 1
254-255

Zech, Michael;Kopajtich, Robert;Steinbrücker, Katja;Bris, Céline;Gueguen, Naig;Feichtinger, René G;Achleitner, Melanie T;Duzkale, Neslihan;Périvier, Maximilien;Koch, Johannes;Engelhardt, Harald;Freisinger, Peter;Wagner, Matias;Brunet, Theresa;Berutti, Riccardo;Smirnov, Dmitrii;Navaratnarajah, Tharsini;Rodenburg, Richard J T;Pais, Lynn S;Austin-Tse, Christina;O'Leary, Melanie;Boesch, Sylvia;Jech, Robert;Bakhtiari, Somayeh;Jin, Sheng Chih;Wilbert, Friederike;Kruer, Michael C;Wortmann, Saskia B;Eckenweiler, Matthias;Mayr, Johannes A;Distelmaier, Felix;Steinfeld, Robert;Winkelmann, Juliane;Prokisch, Holger
Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes.
Ann Neurol
2022
91
2
225-237

Harrer, Philip;Leppmeier, Verena;Berger, Andrea;Demund, Simone;Winkelmann, Juliane;Berweck, Steffen;Zech, Michael
A de novo BCL11B variant case manifesting with dystonic movement disorder regarding the article "BCL11B-related disorder in two canadian children: Expanding the clinical phenotype (Prasad et al., 2020).".
Eur J Med Genet
2022
65
11

Dzinovic, Ivana;Winkelmann, Juliane;Zech, Michael
Genetic intersection between dystonia and neurodevelopmental disorders: Insights from genomic sequencing.
Parkinsonism Relat Disord
2022
102
131-140

Indelicato, Elisabetta;Boesch, Sylvia;Baumgartner, Manuela;Plecko, Barbara;Winkelmann, Juliane;Zech, Michael
Confirmation of a Causal Role for SHQ1 Variants in Early Infantile-Onset Recessive Dystonia.
Mov Disord
2023
38
2
355-357

Skorvanek, Matej;Baloghova, Janette;Kulcsarova, Kristina;Winkelmann, Juliane;Jech, Robert;Ostrozovicova, Miriam;Zech, Michael
Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders: More Common than Expected.
Mov Disord
2022
37
11
2323-2324

Škorvánek, Matej;Jech, Robert;Winkelmann, Juliane;Zech, Michael
Progressive choreodystonia in X-linked hyper-IgM immunodeficiency: a rare but recurrent presentation.
Ann Clin Transl Neurol
2022
9
4
577-581