Michael Zech

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 41

Top Topics

Top Venues

Movement disorders : official journal of the Movement Disorder Society

Movement disorders clinical practice

medRxiv : the preprint server for health sciences

Tremor and other hyperkinetic movements (New York, N.Y.)

This page only lists publications with an associated author ORCID identifier.

Publications

Elisabetta Indelicato, Sylvia Boesch, Michael Zech
Heterogeneous Phenotypic Evolution in ANO3-Related Dystonia Due to the Recurrent p.Glu510Lys Variant. Movement disorders : official journal of the Movement Disorder Society 39 (3) (2024)
Giovanna Zorzi, Federica Zibordi, Ugo Sorrentino, Holger Prokisch, Barbara Garavaglia, Michael Zech
Potassium Channel Subunit Kir4.1 Mutated in Paroxysmal Kinesigenic Dyskinesia: Screening of an Italian Cohort. Movement disorders : official journal of the Movement Disorder Society (2024)
Ugo Sorrentino, Luigi Michele Romito, Barbara Garavaglia, Mario Fichera, Isabel Colangelo, Holger Prokisch, Juliane Winkelmann, Ján Necpál, Robert Jech, Michael Zech
Myoclonus and Dystonia as Recurrent Presenting Features in Patients with the SCA21-Associated TMEM240 p.Pro170Leu Variant. Tremor and other hyperkinetic movements (New York, N.Y.) 14 (2024)
Holger Prokisch, Michael Zech
Proteomic Profiling in Dystonia: The Next Frontier for Pathophysiology Research and Biomarker Exploration. Movement disorders : official journal of the Movement Disorder Society (2024)
Elisabetta Indelicato, Luigi Michele Romito, Philip Harrer, Nico Golfrè Andreasi, Isabel Colangelo, Robert Kopajtich, Juliane Winkelmann, Holger Prokisch, Barbara Garavaglia, Michael Zech
Genome Aggregation Database Version 4-New Challenges of Variant Analysis in Movement Disorders. Movement disorders : official journal of the Movement Disorder Society (2024)
Elisabetta Indelicato, Luigi Michele Romito, Philip Harrer, Nico Golfrè Andreasi, Isabel Colangelo, Robert Kopajtich, Juliane Winkelmann, Holger Prokisch, Barbara Garavaglia, Michael Zech
Genome Aggregation Database Version 4-New Challenges of Variant Analysis in Movement Disorders. Movement disorders : official journal of the Movement Disorder Society 39 (7) (2024)
Ugo Sorrentino, Luigi Michele Romito, Barbara Garavaglia, Mario Fichera, Isabel Colangelo, Holger Prokisch, Juliane Winkelmann, Ján Necpál, Robert Jech, Michael Zech
Myoclonus and Dystonia as Recurrent Presenting Features in Patients with the SCA21-Associated TMEM240 p.Pro170Leu Variant. Tremor and other hyperkinetic movements (New York, N.Y.) 14 (2024)
Francesca Magrinelli, Christelle Tesson, Plamena R Angelova, Ainara Salazar-Villacorta, Jose A Rodriguez, Annarita Scardamaglia, Brian Hon-Yin Chung, Matthew Jaconelli, Barbara Vona, Noemí Esteras, Anna Ka-Yee Kwong, Thomas Courtin, Reza Maroofian, Shahryar Alavi, Raja S Nirujogi, Mariasavina Severino, Patrick A Lewis, Stephanie Efthymiou, Benjamin J O'Callaghan, Rebecca Buchert, Linda Sofan, Pawel Lis, Chloé Pinon, Guido J Breedveld, Martin Man Chun Chui, David P Murphy, Vanessa Pitz, Mary B Makarious, Marlene Cassar, Bassem A Hassan, Sana Iftikhar, Clarissa Rocca, Peter Bauer, Michele Tinazzi, Marina Svetel, Bedia Samanci, Hasmet A Hanagasi, Basar Bilgiç, Jose A Obeso, Mónica M Kurtis, Guillaume Cogan, Ayse Nazli Basak, Güneş Kiziltan, Tuğçe Gül, Gül Yalçın Çakmaklı, Bülent Elibol, Nina Barisic, Earny Wei-Sen Ng, Sze-Shing Fan, Tova Hershkovitz, Karin Weiss, Javeria Raza Alvi, Tipu Sultan, Issam Azmi Alkhawaja, Tawfiq Froukh, Hadeel Abdollah E Alrukban, Christine Fauth, Ulrich A Schatz, Thomas Zöggeler, Michael Zech, Karen L Stals, Vinod C Varghese, Sonia Gandhi, Cornelis Blauwendraat, John A Hardy, Suzanne Lesage, Vincenzo Bonifati, Tobias B Haack, Aida Maria Bertoli-Avella, Robert Steinfeld, Dario R Alessi, Hermann Steller, Alexis Brice, Andrey Y Abramov, Kailash P Bhatia, Henry Houlden
PSMF1 variants cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality by disrupting mitochondrial pathways. medRxiv : the preprint server for health sciences (2024)
Francesca Magrinelli, Christelle Tesson, Plamena R Angelova, Ainara Salazar-Villacorta, Jose A Rodriguez, Annarita Scardamaglia, Brian Hon-Yin Chung, Matthew Jaconelli, Barbara Vona, Noemí Esteras, Anna Ka-Yee Kwong, Thomas Courtin, Reza Maroofian, Shahryar Alavi, Raja S Nirujogi, Mariasavina Severino, Patrick A Lewis, Stephanie Efthymiou, Benjamin J O'Callaghan, Rebecca Buchert, Linda Sofan, Pawel Lis, Chloé Pinon, Guido J Breedveld, Martin Man Chun Chui, David P Murphy, Vanessa Pitz, Mary B Makarious, Marlene Cassar, Bassem A Hassan, Sana Iftikhar, Clarissa Rocca, Peter Bauer, Michele Tinazzi, Marina Svetel, Bedia Samanci, Hasmet A Hanagasi, Basar Bilgiç, Jose A Obeso, Mónica M Kurtis, Guillaume Cogan, Ayse Nazli Basak, Güneş Kiziltan, Tuğçe Gül, Gül Yalçın Çakmaklı, Bülent Elibol, Nina Barisic, Earny Wei-Sen Ng, Sze-Shing Fan, Tova Hershkovitz, Karin Weiss, Javeria Raza Alvi, Tipu Sultan, Issam Azmi Alkhawaja, Tawfiq Froukh, Hadeel Abdollah E Alrukban, Christine Fauth, Ulrich A Schatz, Thomas Zöggeler, Michael Zech, Karen L Stals, Vinod C Varghese, Sonia Gandhi, Cornelis Blauwendraat, John A Hardy, Suzanne Lesage, Vincenzo Bonifati, Tobias B Haack, Aida Maria Bertoli-Avella, Robert Steinfeld, Dario R Alessi, Hermann Steller, Alexis Brice, Andrey Y Abramov, Kailash P Bhatia, Henry Houlden
PSMF1 variants cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality by disrupting mitochondrial pathways. medRxiv : the preprint server for health sciences (2024)
Susann Badmann, Florian Castrop, Melanie Brugger, Juliane Winkelmann, Michael Zech
Adult-Onset Parkinsonism as Late Manifestation of HIVEP2-Associated Developmental Disorder. Movement disorders clinical practice (2024)
Francesca Magrinelli, Christelle Tesson, Plamena R Angelova, Ainara Salazar-Villacorta, Jose A Rodriguez, Annarita Scardamaglia, Brian Hon-Yin Chung, Matthew Jaconelli, Barbara Vona, Noemí Esteras, Anna Ka-Yee Kwong, Thomas Courtin, Reza Maroofian, Shahryar Alavi, Raja S Nirujogi, Mariasavina Severino, Patrick A Lewis, Stephanie Efthymiou, Benjamin J O'Callaghan, Rebecca Buchert, Linda Sofan, Pawel Lis, Chloé Pinon, Guido J Breedveld, Martin Man Chun Chui, David P Murphy, Vanessa Pitz, Mary B Makarious, Marlene Cassar, Bassem A Hassan, Sana Iftikhar, Clarissa Rocca, Peter Bauer, Michele Tinazzi, Marina Svetel, Bedia Samanci, Hasmet A Hanagasi, Basar Bilgiç, Jose A Obeso, Mónica M Kurtis, Guillaume Cogan, Ayse Nazli Basak, Güneş Kiziltan, Tuğçe Gül, Gül Yalçın Çakmaklı, Bülent Elibol, Nina Barisic, Earny Wei-Sen Ng, Sze-Shing Fan, Tova Hershkovitz, Karin Weiss, Javeria Raza Alvi, Tipu Sultan, Issam Azmi Alkhawaja, Tawfiq Froukh, Hadeel Abdollah E Alrukban, Christine Fauth, Ulrich A Schatz, Thomas Zöggeler, Michael Zech, Karen L Stals, Vinod C Varghese, Sonia Gandhi, Cornelis Blauwendraat, John A Hardy, Suzanne Lesage, Vincenzo Bonifati, Tobias B Haack, Aida Maria Bertoli-Avella, Robert Steinfeld, Dario R Alessi, Hermann Steller, Alexis Brice, Andrey Y Abramov, Kailash P Bhatia, Henry Houlden
PSMF1 variants cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality by disrupting mitochondrial pathways. medRxiv : the preprint server for health sciences (2024)
Ugo Sorrentino, Luigi Michele Romito, Barbara Garavaglia, Mario Fichera, Isabel Colangelo, Holger Prokisch, Juliane Winkelmann, Ján Necpál, Robert Jech, Michael Zech
Myoclonus and Dystonia as Recurrent Presenting Features in Patients with the SCA21-Associated TMEM240 p.Pro170Leu Variant. Tremor and other hyperkinetic movements (New York, N.Y.) 14 (2024)
Elisabetta Indelicato, Luigi Michele Romito, Philip Harrer, Nico Golfrè Andreasi, Isabel Colangelo, Robert Kopajtich, Juliane Winkelmann, Holger Prokisch, Barbara Garavaglia, Michael Zech
Genome Aggregation Database Version 4-New Challenges of Variant Analysis in Movement Disorders. Movement disorders : official journal of the Movement Disorder Society 39 (7) (2024)
Björn-Hergen Laabs, Katja Lohmann, Eva-Juliane Vollstedt, Tobias Reinberger, Lisa-Marie Nuxoll, Gamze Kilic-Berkmen, Joel S Perlmutter, Sebastian Loens, Cruchaga Carlos, Andre Franke, Valerija Dobricic, Frauke Hinrichs, Anne Grözinger, Eckart Altenmüller, Steven Bellows, Sylvia Boesch, Susan B Bressman, Kevin R Duque, Alberto J Espay, Andreas Ferbert, Jeanne S Feuerstein, Samuel Frank, Thomas Gasser, Bernhard Haslinger, Robert Jech, Frank Kaiser, Christoph Kamm, Katja Kollewe, Andrea A Kühn, Mark S LeDoux, Ebba Lohmann, Abhimanyu Mahajan, Alexander Münchau, Trisha Multhaupt-Buell, Alexander Y Pantelyat, Sarah E Pirio Richardson, Deborah Raymond, Stephen G Reich, Rachel Saunders-Pullman, Barbara Schormair, Nutan Sharma, Azadeh Hamzehei Sichani, Kristina Simonyan, Jens Volkmann, Aparna Wagle Shukla, Juliane Winkelmann, Laura J Wright, Michael Zech, Kirsten E Zeuner, Simone Zittel, Meike Kasten, Yan V Sun, Tobias Bäumer, Norbert Brüggemann, Laurie J Ozelius, Hyder A Jinnah, Christine Klein, Inke R König
Genetic Risk Factors in Isolated Dystonia Escape Genome-Wide Association Studies. Movement disorders : official journal of the Movement Disorder Society (2024)
Elisabetta Indelicato, Sylvia Boesch, Michael Zech
Reply to: "Early Onset Nonprogressive Generalized Dystonia Is Caused by Biallelic SHQ1 Variants". Movement disorders : official journal of the Movement Disorder Society 38 (6) (2023)
Philip Harrer, Matej Skorvanek, Volker Kittke, Ivana Dzinovic, Friederike Borngräber, Mirja Thomsen, Vanessa Mandel, Tatiana Svorenova, Miriama Ostrozovicova, Kristina Kulcsarova, Riccardo Berutti, Hauke Busch, Fabian Ott, Robert Kopajtich, Holger Prokisch, Kishore Raj Kumar, Niccolò Emanuele Mencacci, Manju A Kurian, Alessio di Fonzo, Sylvia Boesch, Andrea A Kühn, Ulrike Blümlein, Katja Lohmann, Bernhard Haslinger, David Weise, Robert Jech, Juliane Winkelmann, Michael Zech
Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation Dysfunction. Movement disorders : official journal of the Movement Disorder Society (2023)
Ivana Dzinovic, Elisabeth Graf, Melanie Brugger, Riccardo Berutti, Iva Příhodová, Astrid Blaschek, Juliane Winkelmann, Robert Jech, Katharina Vill, Michael Zech
Challenges in Establishing the Diagnosis of PRRT2 -Related Dystonia: Recurrent Pathogenic Variants in a Homopolymeric Stretch. Movement disorders clinical practice 10 (7) (2023)
Edoardo Monfrini, Laura Avanzino, Giovanni Palermo, Giulia Bonato, Gloria Brescia, Roberto Ceravolo, Giovanna Cantarella, Paola Mandich, Holger Prokisch, Karin Storm Van's Gravesande, Giulia Straccia, Antonio Elia, Chiara Reale, Celeste Panteghini, Giovanna Zorzi, Roberto Eleopra, Roberto Erro, Miryam Carecchio, Barbara Garavaglia, Michael Zech, Luigi Michele Romito, Alessio di Fonzo
Dominant VPS16 Pathogenic Variants: Not Only Isolated Dystonia. Movement disorders clinical practice 11 (1) (2023)
Sara A Lewis, Maya Chopra, Julie S Cohen, Jennifer M Bain, Bhooma R Aravamuthan, Jason B Carmel, Michael Collingwood Fahey, Reeval Segel, Richard F Wintle, Michael Zech, Halie J May, Nahla Haque, Darcy L Fehlings, Siddharth Srivastava, Michael C Kruer
Clinical actionability of genetic findings in cerebral palsy. medRxiv : the preprint server for health sciences (2023)
Edoardo Monfrini, Laura Avanzino, Giovanni Palermo, Giulia Bonato, Gloria Brescia, Roberto Ceravolo, Giovanna Cantarella, Paola Mandich, Holger Prokisch, Karin Storm Van's Gravesande, Giulia Straccia, Antonio Elia, Chiara Reale, Celeste Panteghini, Giovanna Zorzi, Roberto Eleopra, Roberto Erro, Miryam Carecchio, Barbara Garavaglia, Michael Zech, Luigi Michele Romito, Alessio di Fonzo
Dominant VPS16 Pathogenic Variants: Not Only Isolated Dystonia. Movement disorders clinical practice 11 (1) (2023)
Edoardo Monfrini, Laura Avanzino, Giovanni Palermo, Giulia Bonato, Gloria Brescia, Roberto Ceravolo, Giovanna Cantarella, Paola Mandich, Holger Prokisch, Karin Storm Van's Gravesande, Giulia Straccia, Antonio Elia, Chiara Reale, Celeste Panteghini, Giovanna Zorzi, Roberto Eleopra, Roberto Erro, Miryam Carecchio, Barbara Garavaglia, Michael Zech, Luigi Michele Romito, Alessio di Fonzo
Dominant VPS16 Pathogenic Variants: Not Only Isolated Dystonia. Movement disorders clinical practice 11 (1) (2023)
Elisabetta Indelicato, Sylvia Boesch, Niccolò Emanuele Mencacci, Daniele Ghezzi, Holger Prokisch, Juliane Winkelmann, Michael Zech
Dystonia in ATP Synthase Defects: Reconnecting Mitochondria and Dopamine. Movement disorders : official journal of the Movement Disorder Society (2023)
Maria Bejerholm Christensen, Amanda M Levy, Nazanin A Mohammadi, Marcello Niceta, Rauan Kaiyrzhanov, Maria Lisa Dentici, Chadi Al Alam, Viola Alesi, Valérie Benoit, Kailash P Bhatia, Tatjana Bierhals, Christian Malte Boßelmann, Julien Buratti, Bert Callewaert, Berten Ceulemans, Perrine Charles, Matthias De Wachter, Mohammadreza Dehghani, Erika D'haenens, Martine Doco-Fenzy, Michaela Geßner, Cyrielle Gobert, Ulviyya Guliyeva, Tobias B Haack, Trine B Hammer, Tilman Heinrich, Maja Hempel, Theresia Herget, Ute Hoffmann, Judit Horvath, Henry Houlden, Boris Keren, Christina Kresge, Candy Kumps, Damien Lederer, Alban Lermine, Francesca Magrinelli, Reza Maroofian, Mohammad Yahya Vahidi Mehrjardi, Mahdiyeh Moudi, Amelie J Müller, Anna J Oostra, Beth A Pletcher, David Ros-Pardo, Shanika R Samarasekera, Tartaglia Marco, Kristof Van Schil, Julie Vogt, Evangeline Wassmer, Juliane Winkelmann, Maha Saad Zaki, Michael Zech, Holger Lerche, Francesca Clementina Radio, Paulino Gómez-Puertas, Rikke Steensjerre Moller, Zeynep Tümer
Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder. Clinical genetics 102 (2) (2022)
Igor Straka, Jana Švantnerová, Michael Zech
Reply to Letter: Neurodevelopmental Gene-Related Dystonia: A Pediatric Case with NAA15 Variant. Movement disorders : official journal of the Movement Disorder Society 37 (11) (2022)
Elisabetta Indelicato, Sylvia Boesch, Manuela Baumgartner, Barbara Plecko, Juliane Winkelmann, Michael Zech
Confirmation of a Causal Role for SHQ1 Variants in Early Infantile-Onset Recessive Dystonia. Movement disorders : official journal of the Movement Disorder Society (2022)
Martin Krenn, Rudolf Sommer, Thomas Sycha, Michael Zech
GNAO1 Haploinsufficiency Associated with a Mild Delayed-Onset Dystonia Phenotype. Movement disorders : official journal of the Movement Disorder Society (2022)
Matej Škorvánek, Robert Jech, Juliane Winkelmann, Michael Zech
Progressive choreodystonia in X-linked hyper-IgM immunodeficiency: a rare but recurrent presentation. Annals of clinical and translational neurology 9 (4) (2022)
Alessio di Fonzo, Michael Zech
Nuclear Pore Complex Dysfunction in Dystonia Pathogenesis: Nucleoporins in the Spotlight. Movement disorders : official journal of the Movement Disorder Society (2022)
Igor Straka, Jana Švantnerová, Michal Minár, Simona Stanková, Michael Zech
Neurodevelopmental Gene-Related Dystonia-Parkinsonism with Onset in Adults: A Case with NAA15 Variant. Movement disorders : official journal of the Movement Disorder Society 37 (9) (2022)
Michael Zech, Matthias Elstner, Katja Steinbrücker, Céline Bris, Naig Gueguen, René Günther Feichtinger, Melanie T Achleitner, Neslihan Duzkale, Maximilien Périvier, Johannes Koch, Harald Engelhardt, Peter Freisinger, Matias Wagner, Theresa Brunet, Riccardo Berutti, Dmitrii Smirnov, Tharsini Navaratnarajah, Richard J T Rodenburg, Lynn S Pais, Christina Austin-Tse, Melanie O'Leary, Sylvia Boesch, Robert Jech, Somayeh Bakhtiari, Sheng Chih Jin, Friederike Wilbert, Michael C Kruer, Saskia B Wortmann, Matthias Eckenweiler, Johannes A Mayr, Felix Distelmaier, Robert Steinfeld, Juliane Winkelmann, Holger Prokisch
Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes. Annals of neurology 91 (2) (2022)
Philip Harrer, Audrey Schalk, Masaru Shimura, Sarah Baer, Nadège Calmels, Marie Aude Spitz, Marie-Thérèse Abi Warde, Elise Schaefer, Volker M Sc Kittke, Yasemin Dincer, Matias Wagner, Ivana Dzinovic, Riccardo Berutti, Tatsuharu Sato, Toshihiko Shirakawa, Yasushi Okazaki, Kei Murayama, Konrad Oexle, Holger Prokisch, Volker Mall, Ivo Melčák, Juliane Winkelmann, Michael Zech
Recessive NUP54 Variants Underlie Early-Onset Dystonia with Striatal Lesions. Annals of neurology (2022)
Michael Zech, Kishore R Kumar, Sophie Reining, Janine Reunert, Michel Tchan, Lisa G Riley, Alexander P Drew, Robert J Adam, Riccardo Berutti, Saskia Biskup, Nicolas Derive, Somayeh Bakhtiari, Sheng Chih Jin, Michael C Kruer, Tanya Bardakjian, Pedro Gonzalez-Alegre, Ignacio J Keller Sarmiento, Niccolò Emanuele Mencacci, Steven J Lubbe, Manju A Kurian, Fabienne Clot, Aurélie Méneret, Jean-Madeleine de Sainte Agathe, Victor S C Fung, Marie Vidailhet, Matthias Baumann, Thorsten Marquardt, Juliane Winkelmann, Sylvia Boesch
Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement. Movement disorders : official journal of the Movement Disorder Society (2021)
Benedikt Winter, Johannes Krämer, Tamara Meinhardt, Daniel Berner, Kerstin Alt, Maren Wenzel, Juliane Winkelmann, Michael Zech
NR4A2 and Dystonia with Dopa Responsiveness. Movement disorders : official journal of the Movement Disorder Society 36 (9) (2021)
Ivana Dzinovic, Tereza Serranová, Clement Prouteau, Estelle Colin, Alban Ziegler, Juliane Winkelmann, Robert Jech, Michael Zech
Correction to: Myoclonic dystonia phenotype related to a novel calmodulin-binding transcription activator 1 sequence variant. Neurogenetics (2021)
Diane Doummar, Marco Treven, Leila Qebibo, David Devos, Jamal Ghoumid, Claudia Ravelli, Gottfried Kranz, Martin Krenn, Diane Demailly, Laura Cif, Jean-Baptiste Davion, Fritz Zimprich, Lydie Burglen, Michael Zech
Childhood-onset progressive dystonia associated with pathogenic truncating variants in CHD8. Annals of clinical and translational neurology 8 (10) (2021)
Ivana Dzinovic, Tereza Serranová, Clement Prouteau, Estelle Colin, Alban Ziegler, Juliane Winkelmann, Robert Jech, Michael Zech
Myoclonic dystonia phenotype related to a novel calmodulin-binding transcription activator 1 sequence variant. Neurogenetics 22 (2) (2021)
Thomas Musacchio, Michael Zech, Martin M Reich, Juliane Winkelmann, Jens Volkmann
A Recurrent EIF2AK2 Missense Variant Causes Autosomal-Dominant Isolated Dystonia. Annals of neurology 89 (6) (2021)
Ivana Dzinovic, Matej Škorvánek, Petra Pavelekova, Chen Zhao, Boris Keren, Sandra Whalen, Somayeh Bakhtiari, Sheng Chih Jin, Michael C Kruer, Robert Jech, Juliane Winkelmann, Michael Zech
Variant recurrence confirms the existence of a FBXO31-related spastic-dystonic cerebral palsy syndrome. Annals of clinical and translational neurology 8 (4) (2021)
Kamal Khan, Michael Zech, Angela T Morgan, David J Amor, Matej Skorvanek, Tahir N Khan, Michael S Hildebrand, Victoria E Jackson, Thomas S Scerri, Matthew Coleman, Kristin A Rigbye, Ingrid Eileen Scheffer, Melanie Bahlo, Matias Wagner, Daniel D Lam, Riccardo Berutti, Petra Havránková, Anna Fečíková, Tim M Strom, Vladimir Han, Petra Dosekova, Zuzana Gdovinova, Franco Laccone, Muhammad Jameel, Marie R Mooney, Shahid Mahmood Baig, Robert Jech, Erica E Davis, Nicholas Katsanis, Juliane Winkelmann
Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia. Genetics in medicine : official journal of the American College of Medical Genetics 21 (11) (2019)
Michael Zech, Robert Jech, Matias Wagner, Tobias Mantel, Sylvia Boesch, Michael Nocker, Angela Jochim, Riccardo Berutti, Petra Havránková, Anna Fečíková, David Kemlink, Jan Roth, Tim M Strom, Werner Poewe, Evžen Růžička, Bernhard Haslinger, Juliane Winkelmann
Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing. Neurogenetics 18 (4) (2017)
Michael Zech, Katharina Poustka, Sylvia Boesch, Riccardo Berutti, Tim M Strom, Wolfgang Grisold, Werner Poewe, Juliane Winkelmann
SOX5-Null Heterozygous Mutation in a Family with Adult-Onset Hyperkinesia and Behavioral Abnormalities. Case reports in genetics 2017 (2017)