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Anzahl der Publikationen: 31

Zeitschriftenartikel

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]

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

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; 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]

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]

Oender, Demet; Faber, Jennifer; Wilke, Carlo; Schaprian, Tamara; Lakghomi, Asadeh; Mengel, David; Schoels, Ludger; Traschuetz, Andreas; Fleszar, Zofia; Dufke, Claudia; Vielhaber, Stefan; Machts, Judith; Giordano, Ilaria; Grobe-Einsler, Marcus; Klopstock, Thomas; Stendel, Claudia; Boesch, Sylvia; Nachbauer, Wolfgang; Timmann-Braun, Dagmar; Thieme, Andreas Gustafsson; Kamm, Christoph; Dudesek, Ales; Tallaksen, Chantal; Wedding, Iselin; Filla, Alessandro; Schmid, Matthias; Synofzik, Matthis und Klockgether, Thomas (2023): Evolution of Clinical Outcome Measures and Biomarkers in Sporadic Adult-Onset Degenerative Ataxia. In: Movement Disorders, Bd. 38, Nr. 4: S. 654-664 [PDF, 913kB]

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]

Porcu, Luca; Fichera, Mario; Nanetti, Lorenzo; Rulli, Eliana; Giunti, Paola; Parkinson, Michael H.; Durr, Alexandra; Ewenczyk, Claire; Boesch, Sylvia; Nachbauer, Wolfgang; Indelicato, Elisabetta; Klopstock, Thomas; Stendel, Claudia; de Rivera, Francisco Javier Rodriguez; Schoels, Ludger; Fleszar, Zofia; Giordano, Ilaria; Didszun, Claire; Castaldo, Anna; Rai, Myriam; Klockgether, Thomas; Pandolfo, Massimo; Schulz, Joerg B.; Reetz, Kathrin und Mariotti, Caterina (2023): Longitudinal changes of SARA scale in Friedreich ataxia: Strong influence of baseline score and age at onset. In: Annals of Clinical and Translational Neurology, Bd. 10, Nr. 11: S. 2000-2012 [PDF, 1MB]

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]

Cunha, Paulina; Petit, Emilien; Coutelier, Marie; Coarelli, Giulia; Mariotti, Caterina; Faber, Jennifer; Van Gaalen, Judith; Damasio, Joana; Fleszar, Zofia; Tosi, Michele; Rocca, Clarissa; De Michele, Giovanna; Minnerop, Martina; Ewenczyk, Claire; Santorelli, Filippo M.; Heinzmann, Anna; Bird, Thomas; Amprosi, Matthias; Indelicato, Elisabetta; Benussi, Alberto; Charles, Perrine; Stendel, Claudia; Romano, Silvia; Scarlato, Marina; Le Ber, Isabelle; Bassi, Maria Teresa; Serrano, Mercedes; Schmitz-Hubsch, Tanja; Doss, Sarah; Van Velzen, Gijs A. J.; Thomas, Quentin; Trabacca, Antonio; Ortigoza-Escobar, Juan Dario; D'Arrigo, Stefano; Timmann, Dagmar; Pantaleoni, Chiara; Martinuzzi, Andrea; Besse-Pinot, Elsa; Marsili, Luca; Cioffi, Ettore; Nicita, Francesco; Giorgetti, Alejandro; Moroni, Isabella; Romaniello, Romina; Casali, Carlo; Ponger, Penina; Casari, Giorgio; De Bot, Susanne T.; Ristori, Giovanni; Blumkin, Lubov; Borroni, Barbara; Goizet, Cyril; Marelli, Cecilia; Boesch, Sylvia; Anheim, Mathieu; Filla, Alessandro; Houlden, Henry; Bertini, Enrico; Klopstock, Thomas; Synofzik, Matthis; Riant, Florence; Zanni, Ginevra; Magri, Stefania; Di Bella, Daniela; Nanetti, Lorenzo; Sequeiros, Jorge; Oliveira, Jorge; Warrenburg, Bart Van de; Schoels, Ludger; Taroni, Franco; Brice, Alexis und Durr, Alexandra (2023): Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias. In: American Journal of Human Genetics, Bd. 110, Nr. 7: 1098-+

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]

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]

Hohenfeld, Christian; Terstiege, Ulrich; Dogan, Imis; Giunti, Paola; Parkinson, Michael H.; Mariotti, Caterina; Nanetti, Lorenzo; Fichera, Mario; Durr, Alexandra; Ewenczyk, Claire; Boesch, Sylvia; Nachbauer, Wolfgang; Klopstock, Thomas; Stendel, Claudia; de Rivera Garrido, Francisco Javier Rodriguez; Schoels, Ludger; Hayer, Stefanie N.; Klockgether, Thomas; Giordano, Ilaria; Didszun, Claire; Rai, Myriam; Pandolfo, Massimo; Rauhut, Holger ORCID logoORCID: https://orcid.org/0000-0003-4750-5092; Schulz, Joerg B. und Reetz, Kathrin (2022): Prediction of the disease course in Friedreich ataxia. In: Scientific Reports, Bd. 12, Nr. 1, 19173 [PDF, 1MB]

Amprosi, Matthias; Indelicato, Elisabetta; Nachbauer, Wolfgang; Hussl, Anna; Stendel, Claudia; Eigentler, Andreas; Gallenmueller, Constanze; Boesch, Sylvia und Klopstock, Thomas ORCID logoORCID: https://orcid.org/0000-0003-2805-4652 (2022): Mast Syndrome Outside the Amish Community: SPG21 in Europe. In: Frontiers in Neurology, Bd. 12, 799953 [PDF, 658kB]

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

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

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

Reetz, Kathrin; Dogan, Imis; Hilgers, Ralf-Dieter; Giunti, Paola; Parkinson, Michael H.; Mariotti, Caterina; Nanetti, Lorenzo; Durr, Alexandra; Ewenczyk, Claire; Boesch, Sylvia; Nachbauer, Wolfgang; Klopstock, Thomas; Stendel, Claudia; de Rivera Garrido, Francisco Javier Rodriguez; Rummey, Christian; Schoels, Ludger; Hayer, Stefanie N.; Klockgether, Thomas; Giordano, Ilaria; Didszun, Claire; Rai, Myriam; Pandolfo, Massimo und Schulz, Jorg B. (2021): Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study. In: Lancet Neurology, Bd. 20, Nr. 5: S. 362-372

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]

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]

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

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]

Feil, Katharina; Adrion, Christine; Boesch, Sylvia; Doss, Sarah; Giordano, Ilaria; Hengel, Holger; Jacobi, Heike; Klockgether, Thomas; Klopstock, Thomas; Nachbauer, Wolfgang; Schöls, Ludger; Steiner, Katharina Marie; Stendel, Claudia; Timmann, Dagmar; Naumann, Ivonne; Mansmann, Ulrich ORCID logoORCID: https://orcid.org/0000-0002-9955-8906 und Strupp, Michael (2021): Safety and Efficacy of Acetyl-DL-Leucine in Certain Types of Cerebellar Ataxia: The ALCAT Randomized Clinical Crossover Trial. In: JAMA Network Open, Bd. 4, Nr. 12, e2135841 [PDF, 1MB]

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]

Hayer, Stefanie Nicole; Liepelt, Inga; Barro, Christian; Wilke, Carlo; Kuhle, Jens; Martus, Peter; Schoels, Ludger; Schulz, Jörg Bernhard; Reetz, Kathrin; Fedosov, Kathrin; Didszun, Claire; Klockgether, Thomas; Giordano, Ilaria; Pandolfo, Massimo; Depondt, Chantal; Rai, Myriam; Boesch, Sylvia; Nachbauer, Wolfgang; Eigentler, Andreas; Indelicato, Elisabetta; Giunti, Paola; Parkinson, Michael; Manso, Katarina; Thomas-Black, Gilbert; Garcia-Moreno, Hector; Solanky, Nita; Abeti, Rosella; Polke, James; Labrum, Robin; Garrido, Rodriguez de Rivera Francisco Javier; Mascias, Javier; Velasco, Sanchez Sara; Garcia, Secades Sergio; Mariotti, Caterina; Nanetti, Lorenzo; Castaldo, Anna; Mongelli, Alessia; Fichera, Mario; Klopstock, Thomas; Karin, Ivan; Stendel, Claudia; Radelfahr, Florentine; Durr, Alexandra; Biet, Marie; Charles, Perrine; Ewenczyk, Claire; Just, Jennifer; Koutsis, Georgios; Walsh, Richard und Bertini, Enrico (2020): NfL and pNfH are increased in Friedreich's ataxia. In: Journal of Neurology, Bd. 267, Nr. 5: S. 1420-1430

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

Cook, Arron; Boesch, Sylvia; Heck, Suzette; Brunt, Ewout; Klockgether, Thomas; Schoels, Ludger; Schulz, Angela und Giunti, Paola (2019): Patient-reported outcomes in Friedreich's ataxia after withdrawal from idebenone. In: Acta Neurologica Scandinavica, Bd. 139, Nr. 6: S. 533-539

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

Reetz, Kathrin; Dogan, Imis; Hilgers, Ralf-Dieter; Giunti, Paola; Mariotti, Caterina; Durr, Alexandra; Boesch, Sylvia; Klopstock, Thomas; Rodriguez de Rivera, Francisco Javier; Schöls, Ludger; Klockgether, Thomas; Bürk, Katrin; Rai, Myriam; Pandolfo, Massimo und Schulz, Jörg B. (2016): Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 2 year cohort study. In: Lancet Neurology, Bd. 15, Nr. 13: S. 1346-1354

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