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Eine Ebene höherGruppiert nach: Dokumententyp |
Veröffentlichungsdatum
Anzahl der Publikationen: 11
2024
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
2022
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
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
2021
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]
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
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; 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
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
2020
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
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]
2019
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]