Scoring Algorithm‐Based Genomic Testing in Dystonia: A Prospective Validation Study
Zech, Michael, Jech, Robert, Boesch, Sylvia, Škorvánek, Matej, Necpál, Ján, Švantnerová, Jana, Wagner, Matias, Sadr‐Nabavi, Ariane, Distelmaier, Felix, Krenn, Martin, Serranová, Tereza, Rektorová, Irena, Havránková, Petra, Mosejová, Alexandra, Příhodová, Iva, Šarláková, Jana, Kulcsarová, Kristína, Ulmanová, Olga, Bechyně, Karel, Ostrozovičová, Miriam, Haň, Vladimír, 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, Oexle, Konrad
Published in Movement disorders (01.08.2021)
Published in Movement disorders (01.08.2021)
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Clinically relevant copy-number variants in exome sequencing data of patients with dystonia
Zech, Michael, Boesch, Sylvia, Škorvánek, Matej, Necpál, Ján, Švantnerová, Jana, Wagner, Matias, Dincer, Yasemin, Sadr-Nabavi, Ariane, Serranová, Tereza, Rektorová, Irena, Havránková, Petra, Ganai, Shahzaman, Mosejová, Alexandra, Příhodová, Iva, Šarláková, Jana, Kulcsarová, Kristína, Ulmanová, Olga, Bechyně, Karel, Ostrozovičová, Miriam, Haň, Vladimír, 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, Winkelmann, Juliane
Published in Parkinsonism & related disorders (01.03.2021)
Published in Parkinsonism & related disorders (01.03.2021)
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The neurological and neuropsychiatric spectrum of adults with late-treated phenylketonuria
Mainka, Tina, Fischer, Jan-Frederik, Huebl, Julius, Jung, Alexandra, Lier, Dinah, Mosejova, Alexandra, Skorvanek, Matej, de Koning, Tom J., Kühn, Andrea A., Freisinger, Peter, Ziagaki, Athanasia, Ganos, Christos
Published in Parkinsonism & related disorders (01.08.2021)
Published in Parkinsonism & related disorders (01.08.2021)
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Whole exome sequencing identifies a homozygous POLG2 missense variant in an adult patient presenting with optic atrophy, movement disorders, premature ovarian failure and mitochondrial DNA depletion
Dosekova, Petra, Dubiel, Andrzej, Karlowicz, Anna, Zietkiewicz, Szymon, Rydzanicz, Malgorzata, Habalova, Viera, Pienkowski, Victor Murcia, Skirkova, Miriam, Han, Vladimir, Mosejova, Alexandra, Gdovinova, Zuzana, Kaliszewska, Magdalena, Tońska, Katarzyna, Szymanski, Michal R., Skorvanek, Matej, Ploski, Rafal
Published in European journal of medical genetics (01.04.2020)
Published in European journal of medical genetics (01.04.2020)
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LRRK2 mutations in Parkinson's disease patients from Central Europe: A case control study
Skorvanek, Matej, Rizig, Mie, Athanasiou-Fragkouli, Alkyoni, Necpal, Jan, Straka, Igor, Tamas, Gertrud, Kurca, Egon, Mosejova, Alexandra, Han, Vladimir, Lorincova, Tatiana, Ostrozovicova, Miriam, Liesenerova, Simona, Levicka, Petra, Fajcikova, Lucia, Minar, Michal, Valkovic, Peter, Mákos, Orsolya, Kelemen, Andrea, Grofik, Milan, Cibulka, Michal, Jama, Fatumah, Houlden, Henry, Sendekova, Daniela, Cobejova, Jana, Cobej, Martin, Sukovska, Viktoria, Pálvölgyi, Károlyné, Kovacs, Norbert, Pintér, David, Ruzicka, Evzen, Holly, Petr, Dusek, Petr, Starkova, Irena, Brdkova, Jana, Smilowska, Katarzyna, Falup-Pecurariu, Cristian, Diaconu, Stefania, Klivenyi, Peter, Balaz, Marek
Published in Parkinsonism & related disorders (01.02.2021)
Published in Parkinsonism & related disorders (01.02.2021)
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Answer to Finsterer about “Multisystem presentation of a homozygous POLG2 variant”
Dosekova, Petra, Dubiel, Andrzej, Karlowicz, Anna, Zietkiewicz, Szymon, Rydzanicz, Malgorzata, Habalova, Viera, Pienkowski, Victor Murcia, Skirkova, Miriam, Han, Vladimir, Mosejova, Alexandra, Gdovinova, Zuzana, Kaliszewska, Magdalena, Tońska, Katarzyna, Szymanski, Michal R., Skorvanek, Matej, Ploski, Rafal
Published in European journal of medical genetics (01.05.2020)
Published in European journal of medical genetics (01.05.2020)
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