Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Petra Pavelekova"'
Autor:
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
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 8, Iss 4, Pp 951-955 (2021)
Abstract The role of genetics in the causation of cerebral palsy has become the focus of many studies aiming to unravel the heterogeneous etiology behind this frequent neurodevelopmental disorder. A recent paper reported two unrelated children with a
Externí odkaz:
https://doaj.org/article/b5b5d32dfe1445808140659514bf03e7
Autor:
Alexandra Lackova, Christian Beetz, Sebastian Oppermann, Peter Bauer, Petra Pavelekova, Tatiana Lorincova, Miriam Ostrozovicova, Kristina Kulcsarova, Jana Cobejova, Martin Cobej, Petra Levicka, Simona Liesenerova, Daniela Sendekova, Viktoria Sukovska, Zuzana Gdovinova, Vladimir Han, Mie Rizig, Henry Houlden, Matej Skorvanek
Publikováno v:
Parkinson's Disease, Vol 2022 (2022)
Background. An increased prevalence of Parkinson’s disease (PD) disease has been previously reported in subjects with Fabry disease (FD) carrying alpha-galactosidase (GLA) mutations and their first-line relatives. Moreover, decreased alpha-galactos
Externí odkaz:
https://doaj.org/article/735f7ce759224bf6b7c29b9c1c8373fb
Autor:
Ivana, Dzinovic, Sylvia, Boesch, Matej, Škorvánek, Ján, Necpál, Jana, Švantnerová, Petra, Pavelekova, Petra, Havránková, Eugenia, Tsoma, Elisabetta, Indelicato, Eva, Runkel, Valentin, Held, David, Weise, Wibke, Janzarik, Matthias, Eckenweiler, Steffen, Berweck, Volker, Mall, Bernhard, Haslinger, Robert, Jech, Juliane, Winkelmann, Michael, Zech
Publikováno v:
Parkinsonism & Related Disorders. 102:1-6
Although shared genetic factors have been previously reported between dystonia and other neurologic conditions, no sequencing study exploring such links is available. In a large dystonic cohort, we aimed at analyzing the proportions of causative vari
Autor:
Matej Skorvanek, Irena Rektorova, Wim Mandemakers, Matias Wagner, Robert Steinfeld, Laura Orec, Vladimir Han, Petra Pavelekova, Alexandra Lackova, Kristina Kulcsarova, Miriam Ostrozovicova, Zuzana Gdovinova, Barbara Plecko, Theresa Brunet, Riccardo Berutti, Demy J.S. Kuipers, Valerie Boumeester, Petra Havrankova, M.A.J. Tijssen, Rauan Kaiyrzhanov, Mie Rizig, Henry Houlden, Juliane Winkelmann, Vincenzo Bonifati, Michael Zech, Robert Jech
Publikováno v:
Parkinsonism and Related Disorders, 94, 54-61. Elsevier
Parkinsonism & Related Disorders, 94, 54-61. Elsevier
Parkinsonism & Related Disorders, 94, 54-61. Elsevier
Introduction: Sixteen subjects with biallelic WARS2 variants encoding the tryptophanyl mitochondrial aminoacyl-tRNA synthetase, presenting with a neonatal- or infantile-onset mitochondrial disease, have been reported to date. Here we present six nove
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74bec6141274e44c857e824204614322
https://pure.eur.nl/en/publications/f112d057-d2a9-4cfc-9355-98b5f603ffa9
https://pure.eur.nl/en/publications/f112d057-d2a9-4cfc-9355-98b5f603ffa9
Autor:
Petra Pavelekova, Felix Distelmaier, Gloria Sarah Leszinski, Tim M. Strom, Ján Necpál, S. Leiz, Urania Kotzaeridou, Petra Havránková, Timo Roser, Maja Hempel, Ingo Borggraefe, Korbinian M. Riedhammer, Reka Kovacs, Matej Skorvanek, Melanie Brugger, Bader Alhaddad, Robert Jech, Matias Wagner, Riccardo Berutti, Sebastian A. Schroeder, Dominik S. Westphal, Thomas Meitinger, Georg F. Hoffmann, Theresa Brunet, Elisabeth Graf, Gertrud Strobl-Wildemann, Christine Makowski, Sandrina Weber, Juliane Winkelmann, Robert Steinfeld, Julia Hoefele, Michael Zech, Katharina Mayerhanser, Isabella Mahle
Publikováno v:
Clinical Genetics
Clin. Genet. 100, 14-28 (2021)
Clin. Genet. 100, 14-28 (2021)
Up to 40% of neurodevelopmental disorders (NDDs) such as intellectual disability, developmental delay, autism spectrum disorder, and developmental motor abnormalities have a documented underlying monogenic defect, primarily due to de novo variants. S
Autor:
Gonzalo Alonso Ramos-Rivera, Julia Vera, Holger Prokisch, Sebastian Schröder, Michal Minár, Hartmut Engels, Thomas Herberhold, Jessica Becker, Robert Jech, Anna Szuto, Angela Jochim, Theresa Brunet, Tobias Meindl, V. Kraus, Ivan Milenkovic, Alexandra Sitzberger, Jana Švantnerová, Birgit Assmann, Evžen Růžička, Felix Distelmaier, Chen Zhao, Martin Krenn, Stephan Grunwald, Renzo Guerrini, Christine Makowski, Alice Kuster, Yasemin Dincer, Pedro Gonzalez-Alegre, Petra Havránková, Bader Alhaddad, Zuzana Gdovinova, Tobias Bock-Bierbaum, Annette Hackenberg, Friederike Wilbert, Esther M. Maier, Katrin Õunap, Francisca Millan Zamora, David Weise, Birgit Leineweber, Vladimír Haň, Matias Wagner, Roberto Colombo, Marc E. Wolf, Tim M. Strom, Laura Pölsler, Veronika Pilshofer, Tanya Bardakjian, Steffi Patzer, Oliver Daumke, Ingo Borggraefe, Korbinian M. Riedhammer, Richard E. Person, Ulrich A. Schatz, Michaela Bonfert, Jan Roth, Monica H. Wojcik, Riccardo Berutti, Wendy K. Chung, Robert Steinfeld, Kirsten Cremer, Sylvia Boesch, Steffen Berweck, Ján Necpál, Berthold Langguth, Matej Skorvanek, Mónica Troncoso, Fang Fang, Laurie J. Ozelius, Dominik S. Westphal, Bernhard Haslinger, Rafał Płoski, Jens Volkmann, Konrad Oexle, Thomas Musacchio, Martin Hecht, Aida Telegrafi, Matthias Eckenweiler, Edda Haberlandt, Arcangela Iuso, Volker Mall, Michael Zech, Christian Staufner, Thomas Opladen, Sander Pajusalu, Lindsay B. Henderson, Thomas Sycha, Karel Bechyně, Petra Pavelekova, David A. Dyment, Iva Příhodová, Katharina Vill, Annalisa Vetro, Tobias Mantel, Malgorzata Stoklosa, Miriam Adamovičová, Anna Fečíková, Fritz Zimprich, Pavlína Danhofer, Juliane Winkelmann, Franco Laccone, Elisabeth Graf, Sandrina Weber, Timo Roser, Saskia B. Wortmann, Astrid Blaschek, Ronald D. Cohn, Olga Ulmanová, Andres O. Ceballos-Baumann, Matthias Baumann, Branislav Veselý, Barbara Plecko
Publikováno v:
Lancet Neurol. 19, 908-918 (2020)
Summary Background Dystonia is a clinically and genetically heterogeneous condition that occurs in isolation (isolated dystonia), in combination with other movement disorders (combined dystonia), or in the context of multisymptomatic phenotypes (isol
Autor:
Juliane Winkelmann, Zuzana Gdovinova, Vladimir Han, Anna Fečíková, Petra Pavelekova, Michael Zech, Alexandra Mosejova, Robert Jech, Dušan Urgošík, Anna Krepelova, Matej Skorvanek, Petra Havránková, Z. Liba
Publikováno v:
Parkinsonism & Related Disorders. 83:54-55
DYT1 gene mutations lead to early-onset dystonia that begins with focal limb onset and spreads to other body regions within 5 years, with typical sparing of the oromandibular muscles. In the present study, we describe two patients with an unusual pre