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Anzahl der Publikationen: 68

Zeitschriftenartikel

Peymani, Fatemeh; Ebihara, Tomohiro; Smirnov, Dmitrii; Kopajtich, Robert; Ando, Masahiro; Bertini, Enrico ORCID logoORCID: https://orcid.org/0000-0001-9276-4590; Carrozzo, Rosalba ORCID logoORCID: https://orcid.org/0000-0002-3327-4054; Diodato, Daria; Distelmaier, Felix ORCID logoORCID: https://orcid.org/0000-0001-8460-3738; Fang, Fang; Ghezzi, Daniele ORCID logoORCID: https://orcid.org/0000-0002-6564-3766; Hempel, Maja; Iwanicka-Pronicka, Katarzyna; Klopstock, Thomas ORCID logoORCID: https://orcid.org/0000-0003-2805-4652; Stenton, Sarah L.; Lamperti, Costanza; Liu, Zhimei; Murtazina, Aysylu; Okamoto, Yuji; Okazaki, Yasushi; Piekutowska-Abramczuk, Dorota; Rötig, Agnés ORCID logoORCID: https://orcid.org/0000-0003-0589-0703; Ryzhkova, Oxana; Schlein, Christian; Shagina, Olga; Takashima, Hiroshi; Tsygankova, Polina G.; Zech, Michael; Meitinger, Thomas; Shimura, Masaru; Murayama, Kei ORCID logoORCID: https://orcid.org/0000-0002-3923-8636 und Prokisch, Holger ORCID logoORCID: https://orcid.org/0000-0003-2379-6286 (2025): Pleiotropic effects of MORC2 derive from its epigenetic signature. In: Brain, awaf159 [Forthcoming]

Harrer, Philip; Krygier, Magdalena ORCID logoORCID: https://orcid.org/0000-0002-6607-5983; Krenn, Martin ORCID logoORCID: https://orcid.org/0000-0003-3026-3082; Kittke, Volker; Danis, Martin; Krastev, Georgi; Saparov, Alice; Pichon, Virginie; Malbos, Marlène; Scherer, Clarisse; Dzinovic, Ivana; Skorvanek, Matej ORCID logoORCID: https://orcid.org/0000-0001-5497-8715; Kopajtich, Robert; Prokisch, Holger; Silvaieh, Sara; Grisold, Anna; Mazurkiewicz‐Bełdzińska, Maria; Sainte Agathe, Jean‐Madeleine de; Winkelmann, Juliane ORCID logoORCID: https://orcid.org/0000-0002-3074-599X; Necpal, Jan ORCID logoORCID: https://orcid.org/0000-0002-4626-9588; Jech, Robert ORCID logoORCID: https://orcid.org/0000-0002-9732-8947 und Zech, Michael ORCID logoORCID: https://orcid.org/0000-0001-8112-9153 (2025): Expanding the Allelic and Clinical Heterogeneity of Movement Disorders Linked to Defects of Mitochondrial Adenosine Triphosphate Synthase. In: Movement Disorders [Forthcoming]

Zech, Michael; Dzinovic, Ivana; Skorvanek, Matej; Harrer, Philip; Necpal, Jan; Kopajtich, Robert; Kittke, Volker; Tilch, Erik; Zhao, Chen; Tsoma, Eugenia; Sorrentino, Ugo; Indelicato, Elisabetta ORCID logoORCID: https://orcid.org/0000-0003-0217-8630; Stehr, Antonia; Saparov, Alice; Abela, Lucia; Adamovicova, Miriam; Afenjar, Alexandra; Assmann, Birgit; Baloghova, Janette; Baumann, Matthias; Berutti, Riccardo; Brezna, Zuzana; Brugger, Melanie ORCID logoORCID: https://orcid.org/0000-0002-6920-8550; Brunet, Theresa ORCID logoORCID: https://orcid.org/0000-0002-5183-780X; Cogne, Benjamin; Colangelo, Isabel; Conboy, Erin; Distelmaier, Felix ORCID logoORCID: https://orcid.org/0000-0001-8460-3738; Eckenweiler, Matthias; Garavaglia, Barbara; Geerlof, Arie; Graf, Elisabeth; Hackenberg, Annette; Harvanova, Denisa; Haslinger, Bernhard; Havrankova, Petra; Hoffmann, Georg F.; Janzarik, Wibke G.; Keren, Boris; Kolnikova, Miriam; Kolokotronis, Konstantinos; Kosutzka, Zuzana; Koy, Anne ORCID logoORCID: https://orcid.org/0000-0002-7991-4432; Krenn, Martin; Krygier, Magdalena; Kusikova, Katarina; Maier, Oliver; Meitinger, Thomas; Mertes, Christian; Milenkovic, Ivan; Monfrini, Edoardo ORCID logoORCID: https://orcid.org/0000-0003-4720-9234; Santos Dias Mourao, Andre; Musacchio, Thomas; Nizon, Mathilde; Ostrozovicova, Miriam ORCID logoORCID: https://orcid.org/0000-0003-1519-1535; Pavlov, Martin; Prihodova, Iva; Rektorova, Irena; Romito, Luigi M. ORCID logoORCID: https://orcid.org/0000-0002-6772-1035; Rybanska, Barbora; Sadr-Nabavi, Ariane; Schwenger, Susanne; Shoeibi, Ali; Sitzberger, Alexandra; Smirnov, Dmitrii; Svantnerova, Jana; Tautanova, Raushana; Toelle, Sandra P.; Ulmanova, Olga; Vetrini, Francesco; Vill, Katharina; Wagner, Matias ORCID logoORCID: https://orcid.org/0000-0002-4454-8823; Weise, David; Zorzi, Giovanna; Di Fonzo, Alessio ORCID logoORCID: https://orcid.org/0000-0001-6478-026X; Oexle, Konrad; Berweck, Steffen; Mall, Volker; Boesch, Sylvia; Schormair, Barbara ORCID logoORCID: https://orcid.org/0000-0003-0942-5243; Prokisch, Holger; Jech, Robert und Winkelmann, Juliane (2025): Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia. In: Brain [Forthcoming]

Stehr, Antonia M.; Fischer, Jan; Mirza-Schreiber, Nazanin; Bernardi, Katerina; Porrmann, Joseph; Harrer, Philip; Kaiser, Frank; Jamra, Rami Abou; Winkelmann, Juliane ORCID logoORCID: https://orcid.org/0000-0002-3074-599X; Jech, Robert; Koy, Anne; Oexle, Konrad und Zech, Michael (2025): Variable expressivity of KMT2B variants at codon 2565 in patients with dystonia and developmental disorders. In: Parkinsonism & Related Disorders, Bd. 133, 107319 [PDF, 1MB]

Blackburn, Patrick R.; Ebstein, Frédéric; Hsieh, Tzung‐Chien; Motta, Marialetizia; Radio, Francesca Clementina; Herkert, Johanna C.; Rinne, Tuula; Thiffault, Isabelle; Rapp, Michele; Alders, Mariel; Maas, Saskia; Gerard, Bénédicte; Smol, Thomas; Vincent‐Delorme, Catherine; Cogné, Benjamin; Isidor, Bertrand; Vincent, Marie; Bachmann‐Gagescu, Ruxandra; Rauch, Anita; Joset, Pascal; Ferrero, Giovanni Battista; Ciolfi, Andrea; Husson, Thomas; Guerrot, Anne‐Marie; Bacino, Carlos; Macmurdo, Colleen; Thompson, Stephanie S.; Rosenfeld, Jill A.; Faivre, Laurence; Mau‐Them, Frederic Tran; Deb, Wallid; Vignard, Virginie; Agrawal, Pankaj B.; Madden, Jill A.; Goldenberg, Alice; Lecoquierre, François; Zech, Michael; Prokisch, Holger ORCID logoORCID: https://orcid.org/0000-0003-2379-6286; Necpál, Ján; Jech, Robert; Winkelmann, Juliane ORCID logoORCID: https://orcid.org/0000-0002-3074-599X; Koprušáková, Monika Turčanová; Konstantopoulou, Vassiliki; Younce, John R.; Shinawi, Marwan ORCID logoORCID: https://orcid.org/0000-0003-1329-4100; Mighton, Chloe; Fung, Charlotte; Morel, Chantal F.; Lerner‐Ellis, Jordan; DiTroia, Stephanie; Barth, Magalie; Bonneau, Dominique; Krapels, Ingrid; Stegmann, Alexander P.A.; Schoot, Vyne van der; Brunet, Theresa ORCID logoORCID: https://orcid.org/0000-0002-5183-780X; Bußmann, Cornelia; Mignot, Cyril; Zampino, Giuseppe; Wortmann, Saskia B.; Mayr, Johannes A.; Feichtinger, René G.; Courtin, Thomas; Ravelli, Claudia; Keren, Boris; Ziegler, Alban; Hasadsri, Linda; Pichurin, Pavel N.; Klee, Eric W.; Grand, Katheryn; Sanchez‐Lara, Pedro A.; Krüger, Elke; Bézieau, Stéphane; Klinkhammer, Hannah; Krawitz, Peter Michael; Eichler, Evan E.; Tartaglia, Marco ORCID logoORCID: https://orcid.org/0000-0001-7736-9672; Küry, Sébastien und Wang, Tianyun ORCID logoORCID: https://orcid.org/0000-0002-5179-087X (2025): Loss‐of‐Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder. In: Annals of Neurology, Bd. 97, Nr. 1: S. 76-89

Indelicato, Elisabetta; Boesch, Sylvia; Havrankova, Petra; Prihodova, Iva; Winkelmann, Juliane; Jech, Robert und Zech, Michael (2024): SOXopathies and dystonia: Consolidation of a recurrent association. In: Parkinsonism & Related Disorders, Bd. 119, 105960

Zech, Michael und Winkelmann, Juliane (2024): Next-generation sequencing and bioinformatics in rare movement disorders. In: Nature Reviews Neurology, Bd. 20, Nr. 2: S. 114-126 [PDF, 355kB]

Sorrentino, Ugo; Boesch, Sylvia; Doummar, Diane; Ravelli, Claudia; Serranova, Tereza; Indelicato, Elisabetta; Winkelmann, Juliane; Burglen, Lydie; Jech, Robert und Zech, Michael (2024): CHD8-related disorders redefined: an expanding spectrum of dystonic phenotypes. In: Journal of Neurology, Bd. 271, Nr. 5: S. 2859-2865 [PDF, 467kB]

Indelicato, Elisabetta; Romito, Luigi Michele; Harrer, Philip; Andreasi, Nico Golfre; Colangelo, Isabel; Kopajtich, Robert; Winkelmann, Juliane; Prokisch, Holger; Garavaglia, Barbara und Zech, Michael (2024): Genome Aggregation Database Version 4-New Challenges of Variant Analysis in Movement Disorders. In: Movement Disorders [PDF, 210kB]

Indelicato, Elisabetta; Boesch, Sylvia; Mencacci, Niccolo; Ghezzi, Daniele; Prokisch, Holger; Winkelmann, Juliane und Zech, Michael (2024): Dystonia in ATP Synthase Defects: Reconnecting Mitochondria and Dopamine. In: Movement Disorders, Bd. 39, Nr. 1: S. 29-35 [PDF, 408kB]

Indelicato, Elisabetta; Schlieben, Lea D.; Stenton, Sarah L.; Boesch, Sylvia; Skorvanek, Matej; Necpal, Jan; Jech, Robert; Winkelmann, Juliane; Prokisch, Holger und Zech, Michael (2024): Dystonia and mitochondrial disease: the movement disorder connection revisited in 900 genetically diagnosed patients. In: Journal of Neurology [Forthcoming] [PDF, 584kB]

Sorrentino, Ugo ORCID logoORCID: https://orcid.org/0000-0001-8139-6198; Romito, Luigi M. ORCID logoORCID: https://orcid.org/0000-0002-6772-1035; Garavaglia, Barbara ORCID logoORCID: https://orcid.org/0000-0003-4323-9145; Fichera, Mario ORCID logoORCID: https://orcid.org/0000-0002-9609-3787; Colangelo, Isabel ORCID logoORCID: https://orcid.org/0000-0001-6402-9417; Prokisch, Holger ORCID logoORCID: https://orcid.org/0000-0003-2379-6286; Winkelmann, Juliane ORCID logoORCID: https://orcid.org/0000-0002-3074-599X; Necpal, Jan ORCID logoORCID: https://orcid.org/0000-0002-4626-9588; Jech, Robert ORCID logoORCID: https://orcid.org/0000-0002-9732-8947 und Zech, Michael ORCID logoORCID: https://orcid.org/0000-0001-8112-9153 (2024): Myoclonus and Dystonia as Recurrent Presenting Features in Patients with the SCA21-Associated TMEM240 p.Pro170Leu Variant. In: Tremor and Other Hyperkinetic Movements, Bd. 14, Nr. 1, 16: S. 1-9 [PDF, 2MB]

Badmann, Susann; Castrop, Florian; Brugger, Melanie; Winkelmann, Juliane ORCID logoORCID: https://orcid.org/0000-0002-3074-599X und Zech, Michael ORCID logoORCID: https://orcid.org/0000-0001-8112-9153 (2024): Adult‐Onset Parkinsonism as Late Manifestation of HIVEP2‐Associated Developmental Disorder. In: Movement Disorders Clinical Practice, Bd. 11, Nr. 9: S. 1163-1165 [PDF, 350kB]

Laabs, Björn‐Hergen ORCID logoORCID: https://orcid.org/0000-0002-9265-5738; Lohmann, Katja; Vollstedt, Eva‐Juliane; Reinberger, Tobias; Nuxoll, Lisa‐Marie ORCID logoORCID: https://orcid.org/0000-0003-0167-6638; Kilic‐Berkmen, Gamze ORCID logoORCID: https://orcid.org/0000-0002-9156-5706; Perlmutter, Joel S.; Loens, Sebastian ORCID logoORCID: https://orcid.org/0000-0003-3067-5239; Cruchaga, Carlos ORCID logoORCID: https://orcid.org/0000-0002-0276-2899; Franke, Andre; Dobricic, Valerija ORCID logoORCID: https://orcid.org/0000-0001-8559-1097; Hinrichs, Frauke; Grözinger, Anne; Altenmüller, Eckart; Bellows, Steven; Boesch, Sylvia; Bressman, Susan B.; Duque, Kevin R.; Espay, Alberto J. ORCID logoORCID: https://orcid.org/0000-0002-3389-136X; Ferbert, Andreas; Feuerstein, Jeanne S. ORCID logoORCID: https://orcid.org/0000-0002-7701-3120; Frank, Samuel ORCID logoORCID: https://orcid.org/0000-0002-1866-162X; Gasser, Thomas; Haslinger, Bernhard ORCID logoORCID: https://orcid.org/0000-0002-5513-1839; Jech, Robert ORCID logoORCID: https://orcid.org/0000-0002-9732-8947; Kaiser, Frank; Kamm, Christoph ORCID logoORCID: https://orcid.org/0000-0002-7618-2336; Kollewe, Katja; Kühn, Andrea A.; LeDoux, Mark S.; Lohmann, Ebba; Mahajan, Abhimanyu ORCID logoORCID: https://orcid.org/0000-0001-8807-6672; Münchau, Alexander ORCID logoORCID: https://orcid.org/0000-0002-3219-2284; Multhaupt‐Buell, Trisha; Pantelyat, Alexander ORCID logoORCID: https://orcid.org/0000-0002-6427-7485; Pirio Richardson, Sarah E.; Raymond, Deborah; Reich, Stephen G.; Saunders Pullman, Rachel ORCID logoORCID: https://orcid.org/0000-0001-8132-8806; Schormair, Barbara ORCID logoORCID: https://orcid.org/0000-0003-0942-5243; Sharma, Nutan; Sichani, Azadeh Hamzehei; Simonyan, Kristina ORCID logoORCID: https://orcid.org/0000-0001-7444-0437; Volkmann, Jens; Wagle Shukla, Aparna; Winkelmann, Juliane ORCID logoORCID: https://orcid.org/0000-0002-3074-599X; Wright, Laura J.; Zech, Michael ORCID logoORCID: https://orcid.org/0000-0001-8112-9153; Zeuner, Kirsten E.; Zittel, Simone ORCID logoORCID: https://orcid.org/0000-0002-3767-6376; Kasten, Meike; Sun, Yan V.; Bäumer, Tobias; Brüggemann, Norbert ORCID logoORCID: https://orcid.org/0000-0001-5969-6899; Ozelius, Laurie J.; Jinnah, Hyder A.; Klein, Christine und König, Inke R. ORCID logoORCID: https://orcid.org/0000-0003-0504-6465 (2024): Genetic Risk Factors in Isolated Dystonia Escape Genome‐Wide Association Studies. In: Movement Disorders, Bd. 39, Nr. 11: S. 2110-2116 [PDF, 856kB]

Stehr, Antonia M. ORCID logoORCID: https://orcid.org/0000-0001-9932-5187; Koeglsperger, Thomas ORCID logoORCID: https://orcid.org/0000-0001-6101-0323; Jacob, Maureen; Rhodio, Valerio; Winkelmann, Juliane ORCID logoORCID: https://orcid.org/0000-0002-3074-599X; Hopfner, Franziska ORCID logoORCID: https://orcid.org/0000-0001-6524-0281 und Zech, Michael ORCID logoORCID: https://orcid.org/0000-0001-8112-9153 (2024): Tremor-Dominant Movement Disorder in ANKRD11- Associated KBG Syndrome. In: Tremor and Other Hyperkinetic Movements, Bd. 14, Nr. 1, 48 [PDF, 1MB]

Harrer, Philip; Schalk, Audrey; Shimura, Masaru; Baer, Sarah; Calmels, Nadege; Spitz, Marie Aude; Warde, Marie-Therese Abi; Schaefer, Elise; Kittke, Volker M. Sc; Dincer, Yasemin; Wagner, Matias; Dzinovic, Ivana; Berutti, Riccardo; Sato, Tatsuharu; Shirakawa, Toshihiko; Okazaki, Yasushi; Murayama, Kei; Oexle, Konrad; Prokisch, Holger; Mall, Volker; Melcak, Ivo; Winkelmann, Juliane und Zech, Michael (2023): Recessive NUP54 Variants Underlie Early-Onset Dystonia with Striatal Lesions. In: Annals of Neurology, Bd. 93, Nr. 2: S. 330-335 [PDF, 1MB]

Dzinovic, Ivana; Graf, Elisabeth; Brugger, Melanie; Berutti, Riccardo; Prihodova, Iva; Blaschek, Astrid; Winkelmann, Juliane; Jech, Robert; Vill, Katharina und Zech, Michael (2023): Challenges in Establishing the Diagnosis of PRRT2-Related Dystonia: Recurrent Pathogenic Variants in a Homopolymeric Stretch. In: Movement Disorders Clinical Practice, Bd. 10, Nr. 7: S. 1159-1161 [PDF, 562kB]

Indelicato, Elisabetta; Boesch, Sylvia; Baumgartner, Manuela; Plecko, Barbara; Winkelmann, Juliane und Zech, Michael (2023): Confirmation of a Causal Role for SHQ1 Variants in Early Infantile-Onset Recessive Dystonia. In: Movement Disorders, Bd. 38, Nr. 2: S. 355-357 [PDF, 127kB]

Harrer, Philip; Skorvanek, Matej; Kittke, Volker; Dzinovic, Ivana; Borngraeber, 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; Kuehn, Andrea A.; Bluemlein, Ulrike; Lohmann, Katja; Haslinger, Bernhard; Weise, David; Jech, Robert; Winkelmann, Juliane und Zech, Michael (2023): Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation Dysfunction. In: Movement Disorders, Bd. 38, Nr. 10: S. 1914-1924 [PDF, 1MB]

Poggio, Elena; Barazzuol, Lucia; Salmaso, Andrea; Milani, Celeste; Deligiannopoulou, Adamantia; Cazorla, Angeles Garcia; Jang, Se Song; Julia-Palacios, Natalia; Keren, Boris; Kopajtich, Robert; Lynch, Sally Ann; Mignot, Cyril; Moorwood, Catherine; Neuhofer, Christiane; Nigro, Vincenzo; Oostra, Anna; Prokisch, Holger; Saillour, Virginie; Schuermans, Nika; Torella, Annalaura; Verloo, Patrick; Yazbeck, Elise; Zollino, Marcella; Jech, Robert; Winkelmann, Juliane; Necpal, Jan; Cali, Tito; Brini, Marisa und Zech, Michael (2023): ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures. In: Genetics in Medicine, Bd. 25, Nr. 12, 100971

Seyedtaghia, Mohammad Reza; Soudyab, Mohammad; Shariati, Mohammad; Esfehani, Reza Jafarzadeh; Vafadar, Shabnam; Shalaei, Neda; Nouri, Vahid; Zech, Michael; Winkelmann, Juliane; Shoeibi, Ali und Sadr-Nabavi, Ariane (2023): Copy number analysis from whole-exome sequencing data revealed a novel homozygous deletion in PARK7 leads to severe early-onset Parkinson's disease. In: Heliyon, Bd. 9, Nr. 4, e15393 [PDF, 3MB]

Necpal, Jan; Winkelmann, Juliane; Zech, Michael und Jech, Robert (2023): A de novo GRIA3 variant with complex hyperkinetic movement disorder in a girl with developmental delay and self-limited epilepsy. In: Parkinsonism & Related Disorders, Bd. 111, 105437

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.; Sacoto, Maria J. Guillen; 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. und Weaver, K. Nicole (2023): POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies. In: American Journal of Human Genetics, Bd. 110, Nr. 5: S. 809-825

Oexle, Konrad; Zech, Michael; Stuehn, Lara G.; Siegert, Sandy; Brunet, Theresa; Schmidt, Wolfgang M.; Wagner, Matias; Schmidt, Axel; Engels, Hartmut; Tilch, Erik; Monestier, Olivier; Destree, Anne; Hanker, Britta; Boesch, Sylvia; Jech, Robert; Berutti, Riccardo; Kaiser, Frank; Haslinger, Bernhard; Haack, Tobias B.; Garavaglia, Barbara; Krawitz, Peter; Winkelmann, Juliane und Mirza-Schreiber, Nazanin (2023): Episignature analysis of moderate effects and mosaics. In: European Journal of Human Genetics, Bd. 31, Nr. 9: S. 1032-1039 [PDF, 1MB]

Nasca, Alessia; Mencacci, Niccolo E.; Invernizzi, Federica; Zech, Michael; Sarmiento, Ignacio J. Keller; Legati, Andrea; Frascarelli, Chiara; Bustos, Bernabe; Romito, Luigi M.; Krainc, Dimitri; Winkelmann, Juliane; Carecchio, Miryam; Nardocci, Nardo; Zorzi, Giovanna; Prokisch, Holger; Lubbe, Steven J.; Garavaglia, Barbara und Ghezzi, Daniele (2023): Variants in ATP5F1B are associated with dominantly inherited dystonia. In: Brain, Bd. 146, Nr. 7: S. 2730-2738 [PDF, 913kB]

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. und Huang, Taosheng (2022): A Novel Variant of ATP5MC3 Associated with Both Dystonia and Spastic Paraplegia. In: Movement Disorders, Bd. 37, Nr. 2: S. 375-383 [PDF, 427kB]

Skorvanek, Matej; Jech, Robert; Winkelmann, Juliane und Zech, Michael (2022): Progressive choreodystonia in X-linked hyper-IgM immunodeficiency: a rare but recurrent presentation. In: Annals of Clinical and Translational Neurology, Bd. 9, Nr. 4: S. 577-581 [PDF, 214kB]

Zech, Michael; Kopajtich, Robert; Steinbruecker, Katja; Bris, Celine; Gueguen, Naig; Feichtinger, Rene G.; Achleitner, Melanie T.; Duzkale, Neslihan; Perivier, 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 und Prokisch, Holger (2022): Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes. In: Annals of Neurology, Bd. 91, Nr. 2: S. 225-237 [PDF, 1MB]

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 und Zech, Michael (2022): Genetic overlap between dystonia and other neurologic disorders: A study of 1,100 exomes. In: Parkinsonism & Related Disorders, Bd. 102: S. 1-6

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; Sarmiento, Ignacio J. Keller; Mencacci, Niccolo E.; Lubbe, Steven J.; Kurian, Manju A.; Clot, Fabienne; Meneret, Aurelie; Agathe, Jean-Madeleine de Sainte; Fung, Victor S. C.; Vidailhet, Marie; Baumann, Matthias; Marquardt, Thorsten; Winkelmann, Juliane und Boesch, Sylvia (2022): Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement. In: Movement Disorders, Bd. 37, Nr. 1: S. 137-147 [PDF, 689kB]

Skorvanek, Matej; Baloghova, Janette; Kulcsarova, Kristina; Winkelmann, Juliane; Jech, Robert; Ostrozovicova, Miriam und Zech, Michael (2022): Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders: More Common than Expected. In: Movement Disorders, Bd. 37, Nr. 11: S. 2323-2324

Lam, Daniel D.; Williams, Rhiannan H.; Lujan, Ernesto; Tanabe, Koji; Huber, Georg; Saw, Nay Lui; Merl-Pham, Juliane; Salminen, Aaro; Lohse, David; Spendiff, Sally; Plastini, Melanie J.; Zech, Michael; Lochmueller, Hanns; Geerlof, Arie; Hauck, Stefanie M.; Shamloo, Mehrdad; Wemig, Marius und Winkelmann, Juliane (2022): Collagen VI regulates motor circuit plasticity and motor performance by cannabinoid modulation. In: Journal of Neuroscience, Bd. 42, Nr. 8 [PDF, 7MB]

Soudyab, Mohammad; Shariati, Mohammad; Esfehani, Reza Jafarzadeh; Shalaei, Neda; Vafadar, Shabnam; Nouri, Vahid; Zech, Michael; Winkelmann, Juliane; Shoeibi, Ali und Sadr-Nabavi, Ariane (2022): Whole-Exome Sequencing Study of Consanguineous Parkinson's Disease Families and Related Phenotypes: Report of Twelve Novel Variants. In: Journal of Molecular Neuroscience, Bd. 72, Nr. 12: S. 2486-2496

Harrer, Philip; Leppmeier, Verena; Berger, Andrea; Demund, Simone; Winkelmann, Juliane; Berweck, Steffen und Zech, Michael (2022): 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). In: European Journal of Medical Genetics, Bd. 65, Nr. 11, 104635

Dzinovic, Ivana; Winkelmann, Juliane und Zech, Michael (2022): Genetic intersection between dystonia and neurodevelopmental disorders: Insights from genomic sequencing. In: Parkinsonism & Related Disorders, Bd. 102: S. 131-140

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 und Jech, Robert (2022): WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia. In: Parkinsonism & Related Disorders, Bd. 94: S. 54-61

Svorenova, Tatiana; Romito, Luigi M.; Colangelo, Isabel; Han, Vladimir; Jech, Robert; Prokisch, Holger; Winkelmann, Juliane; Skorvanek, Matej; Garavaglia, Barbara und Zech, Michael (2022): Dystonia as a prominent feature of TCF20-associated neurodevelopmental disorder: Expanding the phenotype. In: Parkinsonism & Related Disorders, Bd. 102: S. 89-91

Garavaglia, Barbara; Vallian, Sadeq; Romito, Luigi M.; Straccia, Giulia; Capecci, Marianna; Invernizzi, Federica; Andrenelli, Elisa; Kazemi, Arezu; Boesch, Sylvia; Kopajtich, Robert; Olfati, Nahid; Shariati, Mohammad; Shoeibi, Ali; Sadr-Nabavi, Ariane; Prokisch, Holger; Winkelmann, Juliane und Zech, Michael (2022): AOPEP variants as a novel cause of recessive dystonia: Generalized dystonia and dystonia-parkinsonism. In: Parkinsonism & Related Disorders, Bd. 97: S. 52-56

Abel, Maria; Pfister, Robert; Hussein, Iman; Alsalloum, Fahd; Onyinzo, Christina; Kappl, Simon; Zech, Michael; Demmel, Walter; Staudt, Martin; Kudernatsch, Manfred und Berweck, Steffen (14. Mai 2021): Deep Brain Stimulation in KMT2B-Related Dystonia: Case Report and Review of the Literature With Special Emphasis on Dysarthria and Speech. In: Frontiers in Neurology, Bd. 12, 662910 [PDF, 356kB]

Hepp, Johannes; Mayr, Christoph; Rozanski, Kazimierz; Schaefer, Imke Kathrin; Tuthorn, Mario; Glaser, Bruno; Juchelka, Dieter; Stichler, Willibald; Zech, Roland und Zech, Michael (2021): Validation of a coupled delta H-2(n-alkane)-delta O-18(sugar) paleohygrometer approach based on a climate chamber experiment. In: Biogeosciences, Bd. 18, Nr. 19: S. 5363-5380

Dzinovic, Ivana; Skorvanek, Matej; Necpal, Jan; Boesch, Sylvia; Svantnerova, Jana; Wagner, Matias; Havrankova, Petra; Pavelekova, Petra; Han, Vladimir; Janzarik, Wibke G.; Berweck, Steffen; Diebold, Isabel; Kuster, Alice; Jech, Robert; Winkelmann, Juliane und Zech, Michael (2021): Dystonia as a prominent presenting feature in developmental and epileptic encephalopathies: A case series. In: Parkinsonism & Related Disorders, Bd. 90: S. 73-78

Brunet, Theresa; Jech, Robert; Brugger, Melanie; Kovacs, Reka; Alhaddad, Bader; Leszinski, Gloria; Riedhammer, Korbinian M.; Westphal, Dominik S.; Mahle, Isabella; Mayerhanser, Katharina; Skorvanek, Matej; Weber, Sandrina; Graf, Elisabeth; Berutti, Riccardo; Necpal, Jan; Havrankova, Petra; Pavelekova, Petra; Hempel, Maja; Kotzaeridou, Urania; Hoffmann, Georg F.; Leiz, Steffen; Makowski, Christine; Roser, Timo; Schroeder, Sebastian A.; Steinfeld, Robert; Strobl-Wildemann, Gertrud; Hoefele, Julia; Borggraefe, Ingo; Distelmaier, Felix; Strom, Tim M.; Winkelmann, Juliane; Meitinger, Thomas; Zech, Michael und Wagner, Matias (2021): De novo variants in neurodevelopmental disorders-experiences from a tertiary care center. In: Clinical Genetics, Bd. 100, Nr. 1: S. 14-28 [PDF, 2MB]

Mirza-Schreiber, Nazanin; Zech, Michael; Wilson, Rory; Brunet, Theresa; Wagner, Matias; Jech, Robert; Boesch, Sylvia; Skorvanek, Matej; Necpal, Jan; 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 und Oexle, Konrad (2021): Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset. In: Brain, Bd. 145, Nr. 2: S. 644-654 [PDF, 1MB]

Neuser, Sonja; Brechmann, Barbara; Heimer, Gali; Broesse, 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; Bar-Aluma, Bat El; Haberman, Yael; Szeinberg, Amir; Aldhalaan, Hesham M.; Hashem, Mais; Al Tenaiji, Amal; Ismayl, Omar; Al Nuaimi, Asma E.; Maher, Karima; 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, Maria Cecilia; Kini, Usha; Efthymiou, Stephanie; Meiler, Jens; Maroofian, Reza; Alkuraya, Fowzan S.; Abou Jamra, Rami; Popp, Bernt; Ben-Zeev, Bruria und Ebrahimi-Fakhari, Darius (2021): Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability. In: Human Mutation, Bd. 42, Nr. 6: S. 762-776 [PDF, 3MB]

Dzinovic, Ivana; Skorvanek, Matej; Pavelekova, Petra; Zhao, Chen; Keren, Boris; Whalen, Sandra; Bakhtiari, Somayeh; Chih Jin, Sheng; Kruer, Michael C.; Jech, Robert; Winkelmann, Juliane und Zech, Michael (2021): Variant recurrence confirms the existence of a FBXO31-related spastic-dystonic cerebral palsy syndrome. In: Annals of Clinical and Translational Neurology, Bd. 8, Nr. 4: S. 951-955 [PDF, 248kB]

Musacchio, Thomas; Zech, Michael; Reich, Martin M.; Winkelmann, Juliane und Volkmann, Jens (2021): A Recurrent EIF2AK2 Missense Variant Causes Autosomal-Dominant Isolated Dystonia. In: Annals of Neurology, Bd. 89, Nr. 6: S. 1257-1258 [PDF, 189kB]

Zech, Michael; Jech, Robert; Boesch, Sylvia; Skorvanek, Matej; Necpal, Jan; Svantnerova, Jana; Wagner, Matias; Sadr-Nabavi, Ariane; Distelmaier, Felix; Krenn, Martin; Serranova, Tereza; Rektorova, Irena; Havrankova, Petra; Mosejova, Alexandra; Prihodova, Iva; Sarlakova, Jana; Kulcsarova, Kristina; Ulmanova, Olga; Bechyne, Karel; Ostrozovicova, Miriam; Han, Vladimir; Ventosa, Joaquim Ribeiro; Brunet, Theresa; Berutti, Riccardo; Shariati, Mohammad; Shoeibi, Ali; Schneider, Susanne A.; Kuster, Alice; Baumann, Matthias; Weise, David; Wilbert, Friederike; Janzarik, Wibke G.; Eckenweiler, Matthias; Mall, Volker; Haslinger, Bernhard; Berweck, Steffen; Winkelmann, Juliane und Oexle, Konrad (2021): Scoring Algorithm-Based Genomic Testing in Dystonia: A Prospective Validation Study. In: Movement Disorders, Bd. 36, Nr. 8: S. 1959-1964 [PDF, 488kB]

Zech, Michael; Bardakjian, Tanya M.; Stoklosa, Malgorzata; Ploski, Rafal; Jech, Robert; Gonzalez-Alegre, Pedro und Winkelmann, Juliane (2021): A Neurodevelopmental Disorder With Dystonia and Chorea Resulting From Clustering CAMK4 Variants. In: Movement Disorders, Bd. 36, Nr. 2: S. 520-521

Ostrozovicova, Miriama; Jech, Robert; Steel, Dora; Pavelekova, Petra; Han, Vladimir; Gdovinova, Zuzana; Lichtner, Peter; Kurian, Manju A.; Wiethoff, Sarah; Houlden, Henry; Havrankova, Petra; Winkelmann, Juliane; Zech, Michael und Skorvanek, Matej (2021): Recurrent VPS16 p.Arg187*Nonsense Variant in Early- Onset Generalized Dystonia. In: Movement Disorders, Bd. 36, Nr. 8, 28647: S. 1984-1985

Winter, Benedikt; Kraemer, Johannes; Meinhardt, Tamara; Berner, Daniel; Alt, Kerstin; Wenzel, Maren; Winkelmann, Juliane und Zech, Michael (2021): NR4A2 and Dystonia with Dopa Responsiveness. In: Movement Disorders, Bd. 36, Nr. 9: S. 2203-2204

Mirza-Schreiber, Nazanin ORCID logoORCID: https://orcid.org/0000-0003-0836-8267; Zech, Michael; Wilson, Rory; Brunet, Theresa; Wagner, Matias ORCID logoORCID: https://orcid.org/0000-0002-4454-8823; 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 ORCID logoORCID: https://orcid.org/0000-0001-6645-0985; Meitinger, Thomas; Schormair, Barbara; Winkelmann, Juliane und Oexle, Konrad ORCID logoORCID: https://orcid.org/0000-0001-7447-2252 (2021): Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset. In: Brain, Bd. 145, Nr. 2: S. 644-654 [PDF, 1MB]

Zech, Michael; Boesch, Sylvia; Skorvanek, Matej; Necpal, Jan; Svantnerova, Jana; Wagner, Matias; Dincer, Yasemin; Sadr-Nabavi, Ariane; Serranova, Teresa; Rektorova, Irena; Havrankova, Petra; Ganai, Shahzaman; Mosejova, Alexandra; Prihodova, Iva; Sarlakova, Jana; Kulcsarova, Kristina; Ulmanova, Olga; Bechyne, Karel; Ostrozovicova, Miriam; Han, Vladimir; Ventosa, Joaquim Ribeiro; Shariati, Mohammad; Shoeibi, Ali; Weber, Sandrina; Mollenhauer, Brit; Trenkwalder, Claudia; Berutti, Riccardo; Strom, Tim M.; Ceballos-Baumann, Andres; Mall, Volker; Haslinger, Bernhard; Jech, Robert und Winkelmann, Juliane (2021): Clinically relevant copy-number variants in exome sequencing data of patients with dystonia. In: Parkinsonism & Related Disorders, Bd. 84: S. 129-134

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 Fossoy; Sullivan, Jennifer A.; Svantnerova, Jana; Velsher, Lea; Wargowski, David S.; Wentzensen, Ingrid M.; Wieczorek, Dagmar; Winkelmann, Juliane; Yap, Patrick; Zech, Michael; Zimmermann, Michael T.; Meitinger, Thomas; Distelmaier, Felix und Wagner, Matias (2021): Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder. In: Genetics in Medicine, Bd. 23, Nr. 2: S. 384-395 [PDF, 5MB]

Zech, Michael; Seibt, Annette; Zumbaum, Barbara; Klee, Dirk; Meitinger, Thomas; Winkelmann, Juliane; Mayatepek, Ertan; Wagner, Matias und Distelmaier, Felix (2021): MATR3 haploinsufficiency and early-onset neurodegeneration. In: Brain, Bd. 144, e72 [PDF, 322kB]

Monfrini, Edoardo; Zech, Michael; Steel, Dora; Kurian, Manju A.; Winkelmann, Juliane und Di Fonzo, Alessio (2021): HOPS-associated neurological disorders (HOPSANDs): linking endolysosomal dysfunction to the pathogenesis of dystonia. In: Brain, Bd. 144: S. 2610-2615 [PDF, 494kB]

Cousin, Margot A.; Creighton, Blake A.; Breau, Keith A.; Spillmann, Rebecca C.; Torti, Erin; Dontu, Sruthi; Tripathi, Swarnendu; Ajit, Deepa; Edwards, Reginald J.; Afriyie, Simone; Bay, Julia C.; Harper, Kathryn M.; Beltran, Alvaro A.; Munoz, Lorena J.; Falcon Rodriguez, Liset; Stankewich, Michael C.; Person, Richard E.; Si, Yue; Normand, Elizabeth A.; Blevins, Amy; May, Alison S.; Bier, Louise; Aggarwal, Vimla; Mancini, Grazia M. S.; van Slegtenhorst, Marjon A.; Cremer, Kirsten; Becker, Jessica; Engels, Hartmut; Aretz, Stefan; MacKenzie, Jennifer J.; Brilstra, Eva; van Gassen, Koen L. I.; van Jaarsveld, Richard H.; Oegema, Renske; Parsons, Gretchen M.; Mark, Paul; Helbig, Ingo; McKeown, Sarah E.; Stratton, Robert; Cogne, Benjamin; Isidor, Bertrand; Cacheiro, Pilar; Smedley, Damian; Firth, Helen V.; Bierhals, Tatjana; Kloth, Katja; Weiss, Deike; Fairley, Cecilia; Shieh, Joseph T.; Kritzer, Amy; Jayakar, Parul; Kurtz-Nelson, Evangeline; Bernier, Raphael A.; Wang, Tianyun; Eichler, Evan E.; van de Laar, Ingrid M. B. H.; McConkie-Rosell, Allyn; McDonald, Marie T.; Kemppainen, Jennifer; Lanpher, Brendan C.; Schultz-Rogers, Laura E.; Gunderson, Lauren B.; Pichurin, Pavel N.; Yoon, Grace; Zech, Michael; Jech, Robert; Winkelmann, Juliane; Beltran, Adriana S.; Zimmermann, Michael T.; Temple, Brenda; Moy, Sheryl S.; Klee, Eric W.; Tan, Queenie K. -G. und Lorenzo, Damaris N. (2021): Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome. In: Nature Genetics, Bd. 53, Nr. 7: 1006-+ [PDF, 9MB]

Dzinovic, Ivana; Serranova, Tereza; Prouteau, Clement; Colin, Estelle; Ziegler, Alban; Winkelmann, Juliane; Jech, Robert und Zech, Michael (2021): Myoclonic dystonia phenotype related to a novel calmodulin-binding transcription activator 1 sequence variant. In: Neurogenetics, Bd. 22, Nr. 2: S. 137-141

Necpal, Jan; Zech, Michael; Winkelmann, Juliane und Jech, Robert (2021): Trisomy X syndrome with dystonia and a pathogenic SATB1 variant. In: Neurological Sciences, Bd. 42, Nr. 9: S. 3883-3884

Zech, Michael; Brunet, Theresa; Skorvanek, Matej; Blaschek, Astrid; Vill, Katharina; Hanker, Britta; Huning, Irina; Han, Vladimir; Dosekova, Petra; Gdovinova, Zuzana; Alhaddad, Bader; Berutti, Riccardo; Strom, Tim M.; Ruzicka, Evzen; Kamsteeg, Erik-Jan; Smagt, Jasper J. van der; Wagner, Matias; Jech, Robert und Winkelmann, Juliane (2020): Recessive null-allele variants in MAG associated with spastic ataxia, nystagmus, neuropathy, and dystonia. In: Parkinsonism & Related Disorders, Bd. 77: S. 70-75

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; Skorvanek, Matej; Necpal, Jan; Davis, Ryan; Wiethoff, Sarah; Mankad, Kshitij; Sudhakar, Sniya; Ferrini, Arianna; Sharma, Suvasini; Kamsteeg, Erik-Jan; Tijssen, Marina A.; Verschuuren, Corien; Egmond, Martje E. van; 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.; Kmiec, 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, Niccolo E.; Anderson, Glenn; Kurian, Manju A. und Winkelmann, Juliane (2020): Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities. In: Annals of Neurology, Bd. 88, Nr. 5: S. 867-877 [PDF, 20MB]

Zech, Michael; Jech, Robert; Boesch, Sylvia; Skorvanek, Matej; Weber, Sandrina; Wagner, Matias; Zhao, Chen; Jochim, Angela; Necpal, Jan; Dincer, Yasemin; Vill, Katharina; Disteimaier, Felix; Stoklosa, Malgorzata; Krenn, Martin; Grunwald, Stephan; Bock-Bierbaum, Tobias; Fecikova, Anna; Havrankova, Petra; Roth, Jan; Prihodova, Iva; Adamovicova, Miriam; Ulmanova, Olga; Bechyne, Karel; Danhofer, Pavlina; Vesely, Branislav; Han, Vladimir; Pavelekova, Petra; Gdovinova, Zuzana; Mantel, Tobias; Meindl, Tobias; Sitzberger, Alexandra; Schröder, Sebastian; Blaschek, Astrid; Roser, Timo; Bonfert, Michaela V.; Haberlandt, Edda; Plecko, Barbara; Leineweber, Birgit; Berweck, Steffen; Herberhold, Thomas; Langguth, Berthold; Svantnerova, Jana; Minar, Michal; Ramos-Rivera, Gonzalo Alonso; Wojcik, Monica H.; Pajusalu, Sander; Ounap, Katrin; Schatz, Ulrich A.; Pölsler, Laura; Milenkovic, Ivan; Laccone, Franco; Pilhofer, Veronika; Colombo, Roberto; Patzer, Steffi; Iuso, Arcangela; Vera, Julia; Troncoso, Monica; Fang, Fang; Prokisch, Holger; Wilbert, Friederike; Eckenweiler, Matthias; Graf, Elisabeth; Westphal, Dominik S.; Riedhammer, Korbinian M.; Brunet, Theresa; Alhaddad, Bader; Berutti, Riccardo; Strom, Tim M.; Hecht, Martin; Baumann, Matthias; Wolf, Marc; Telegrafi, Aida; Person, Richard E.; Zamora, Francisca Milian; Henderson, Lindsay B.; Weise, David; Musacchio, Thomas; Volkmann, Jens; Szuto, Anna; Becker, Jessica; Cremer, Kirsten; Sycha, Thomas; Zimprich, Fritz; Kraus, Verena; Makowski, Christine; Gonzalez-Alegre, Pedro; Bardakjian, Tanya M.; Ozelius, Laurie J.; Vetro, Annafisa; Guerrini, Renzo; Maier, Esther; Borggraefe, Ingo; Kuster, Alice; Wortmann, Saskia B.; Hackenberg, Annette; Steinfeld, Robert; Assmann, Birgit; Staufner, Christian; Opladen, Thomas; Ruzicka, Evzen; Cohn, Ronald D.; Dyment, David; Chung, Wendy K.; Engels, Hartmut; Ceballos-Baumann, Andres; Ploski, Rafai; Daumke, Ofiver; Haslinger, Bernhard; Mall, Volker; Oexle, Konrad und Winkehnann, Juliane (2020): Monogenic variants in dystonia: an exome-wide sequencing study. In: Lancet Neurology, Bd. 19, Nr. 11: S. 908-918

Necpál, Ján; Zech, Michael; Valachová, Alica; Sedláček, Zdeněk; Bendová, Šárka; Hančárová, Miroslava; Okáľová, Katarína; Winkelmann, Juliane und Jech, Robert (2020): Severe paroxysmal dyskinesias without epilepsy in a RHOBTB2 mutation carrier. In: Parkinsonism & Related Disorders, Bd. 77: S. 87-88

Zech, Michael; Jech, Robert; Boesch, Sylvia; Skorvanek, Matej; Weber, Sandrina; Wagner, Matias; Zhao, Chen; Jochim, Angela; Necpal, Jan; Dincer, Yasemin; Vill, Katharina; Distelmaier, Felix; Stoklosa, Malgorzata; Krenn, Martin; Grunwald, Stephan; Bock-Bierbaum, Tobias; Fecikova, Anna; Havrankova, Petra; Roth, Jan; Prihodova, Iva; Adamovicova, Miriam; Ulmanova, Olga; Bechyne, Karel; Danhofer, Pavlina; Vesely, Branislav; Han, Vladimir; Pavelekova, Petra; Gdovinova, Zuzana; Mantel, Tobias; Meindl, Tobias; Sitzberger, Alexandra; Schroeder, Sebastian; Blaschek, Astrid; Roser, Timo; Bonfert, Michaefa; Haberlandt, Edda; Plecko, Barbara; Leineweber, Birgit; Berweck, Steffen; Herberhold, Thomas; Langguth, Berthold; Svantnerova, Jana; Minar, Michal; Ramos-Rivera, Gonzalo Alonso; Wojcik, Monica H.; Pajusalu, Sander; Ounap, Katrin; Schatz, Ulrich A.; Poelsler, Laura; Milenkovic, Ivan; Laccone, Franco; Pilhofer, Veronika; Colombo, Roberto; Patzer, Steffi; Iuso, Arcangela; Vera, Julia; Troncoso, Monica; Fang, Fang; Prokisch, Holger; Wilbert, Friederike; Eckenweiler, Matthias; Graf, Elisabeth; Westphal, Dominik S.; Riedhammer, Korbinian M.; Brunet, Theresa; Alhaddad, Bader; Berutti, Riccardo; Strom, Tim M.; Hecht, Martin; Baumann, Matthias; Wolf, Marc; Telegrafi, Aida; Person, Richard E.; Zamora, Francisca Milian; Henderson, Lindsay B.; Weise, David; Musacchio, Thomas; Volkmann, Jens; Szuto, Anna; Becker, Jessica; Cremer, Kirsten; Sycha, Thomas; Zimprich, Fritz; Kraus, Verena; Makowski, Christine; Gonzalez-Alegre, Pedro; Bardakjian, Tanya M.; Ozelius, Laurie J.; Vetro, Annafisa; Guerrini, Renzo; Maier, Esther; Borggraefe, Ingo; Kuster, Alice; Wortmann, Saskia B.; Hackenberg, Annette; Steinfeld, Robert; Assmann, Birgit; Staufner, Christian; Opladen, Thomas; Ruzicka, Evzen; Cohn, Ronald D.; Dyment, David; Chung, Wendy K.; Engels, Hartmut; Ceballos-Baumann, Andres; Ploski, Rafai; Daumke, Ofiver; Haslinger, Bernhard; Mall, Volker; Oexle, Konrad und Winkehnann, Juliane (2020): Monogenic variants in dystonia: an exome-wide sequencing study. In: Lancet Neurology, Bd. 19, Nr. 11: S. 908-918 [PDF, 1MB]

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. und Koeleman, Bobby P. C. (2020): De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy. In: Genetics in Medicine, Bd. 22, Nr. 8: S. 1413-1417 [PDF, 479kB]

Zech, Michael; Wagner, Matias; Schormair, Barbara; Oexle, Konrad und Winkelmann, Juliane (2019): Exomdiagnostik in der Neurologie. In: Nervenarzt, Bd. 90, Nr. 2: S. 131-137 [PDF, 401kB]

Khan, Kamal; Zech, Michael; Morgan, Angela T.; Amor, David J.; Skorvanek, Matej; Khan, Tahir N.; Hildebrand, Michael S.; Jackson, Victoria E.; Scerri, Thomas S.; Coleman, Matthew; Rigbye, Kristin A.; Scheffer, Ingrid E.; Bahlo, Melanie; Wagner, Matias; Lam, Daniel D.; Berutti, Riccardo; Havrankova, Petra; Fecikova, Anna; Strom, Tim M.; Han, Vladimir; Dosekova, Petra; Gdovinova, Zuzana; Laccone, Franco; Jameel, Muhammad; Mooney, Marie R.; Baig, Shahid M.; Jech, Robert; Davis, Erica E.; Katsanis, Nicholas und Winkelmann, Juliane (2019): Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia. In: Genetics in Medicine, Bd. 21, Nr. 11: S. 2532-2542 [PDF, 308kB]

Zech, Michael; Lam, Daniel D. und Winkelmann, Juliane ORCID logoORCID: https://orcid.org/0000-0002-3074-599X (2019): Update on KMT2B-Related Dystonia. In: Current Neurology and Neuroscience Reports, Bd. 19, Nr. 11, 92 [PDF, 240kB]

Zech, Michael; Boesch, Sylvia; Maier, Esther M.; Borggraefe, Ingo; Vill, Katharina; Laccone, Franco; Pilshofer, Veronika; Ceballos-Baumann, Andres; Alhaddad, Bader; Berutti, Riccardo; Poewe, Werner; Haack, Tobias B.; Haslinger, Bernhard; Strom, Tim M. und Winkelmann, Juliane (2016): Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia. In: American Journal of Human Genetics, Bd. 99, Nr. 6: S. 1377-1387

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