Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Kristina Kulcsarova"'
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
Publikováno v:
Mov Disord Clin Pract
Skin manifestations are well-recognized non-motor symptoms of Parkinson's disease (PD) and other hypokinetic and hyperkinetic movement disorders. Skin conditions are usually well visible during routine clinical examination and their recognition may p
Autor:
Matej Skorvanek, Janette Baloghova, Kristina Kulcsarova, Juliane Winkelmann, Robert Jech, Miriam Ostrozovicova, Michael Zech
Publikováno v:
Movement disorders : official journal of the Movement Disorder Society. 37(11)
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:
Ján Necpál, Susanne A. Schneider, Martin Krenn, Alice Kuster, Wibke G. Janzarik, Sylvia Boesch, Olga Ulmanová, Joaquim Ribeiro Ventosa, Riccardo Berutti, Steffen Berweck, Matej Skorvanek, Vladimír Haň, Matias Wagner, Miriam Ostrozovičová, Jana Švantnerová, Juliane Winkelmann, Bernhard Haslinger, Petra Havránková, Tereza Serranová, Ariane Sadr-Nabavi, Friederike Wilbert, Mohammad Shariati, Kristina Kulcsarova, Irena Rektorová, Felix Distelmaier, Konrad Oexle, Ali Shoeibi, Robert Jech, Michael Zech, Matthias Eckenweiler, Karel Bechyně, Theresa Brunet, Matthias Baumann, Alexandra Mosejova, Volker Mall, Iva Příhodová, David R. Weise, Jana Šarláková
Publikováno v:
Mov. Disord. 36, 959-1964 (2021)
Background Despite the established value of genomic testing strategies, practice guidelines for their use do not exist in many indications. Objectives We sought to validate a recently introduced scoring algorithm for dystonia, predicting the diagnost
Autor:
Matej Skorvanek, Petra Havránková, Tereza Serranová, Ariane Sadr-Nabavi, Tim M. Strom, Alexandra Mosejova, Olga Ulmanová, Kristina Kulcsarova, Irena Rektorová, Karel Bechyně, Mohammad Shariati, Ali Shoeibi, Jana Šarláková, Iva Příhodová, Sylvia Boesch, Riccardo Berutti, Sandrina Weber, Jana Švantnerová, Volker Mall, Juliane Winkelmann, Vladimír Haň, Matias Wagner, Claudia Trenkwalder, Miriam Ostrozovičová, Brit Mollenhauer, Bernhard Haslinger, Shahzaman Ganai, Joaquim Ribeiro Ventosa, Yasemin Dincer, Michael Zech, Andres O. Ceballos-Baumann, Ján Necpál, Robert Jech
Publikováno v:
Parkinsonismrelated disorders. 84
Introduction Next-generation sequencing is now used on a routine basis for molecular testing but studies on copy-number variant (CNV) detection from next-generation sequencing data are underrepresented. Utilizing an existing whole-exome sequencing (W
Autor:
Laura Gombosova, Matej Skorvanek, Kristina Kulcsarova, Eva Feketeova, Ellen Gelpi, Frantisek Trebuna, Eduard Veseliny, Norbert Lesko, Peter Spisak, Zuzana Ladomirjakova, Adriana Vargova, Filip Kudela, Gabor G. Kovacs, Vladimir Han, Zuzana Gdovinova, Mirjam I. Lutz, Zuzana Urbancikova, Joaquim Ribeiro Ventosa, Štefan Tóth, Eva Mechírová, Simona Babinska, Barbora Repkova, Maria Zakuciova
Publikováno v:
Movement Disorders. 33:1366-1368
Autor:
Matej, Skorvanek, Ellen, Gelpi, Eva, Mechirova, Zuzana, Ladomirjakova, Vladimir, Han, Norbert, Lesko, Eva, Feketeova, Barbora, Repkova, Zuzana, Urbancikova, Adriana, Vargova, Peter, Spisak, Joaquim, Ribeiro Ventosa, Filip, Kudela, Kristina, Kulcsarova, Simona, Babinska, Stefan, Toth, Laura, Gombosova, Maria, Zakuciova, Eduard, Veseliny, Frantisek, Trebuna, Mirjam I, Lutz, Zuzana, Gdovinova, Gabor G, Kovacs
Publikováno v:
Movement disorders : official journal of the Movement Disorder Society. 33(8)