Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset
Mirza-Schreiber, Nazanin, Zech, Michael, Wilson, Rory, Brunet, Theresa, Wagner, Matias, Jech, Robert, Boesch, Sylvia, Škorvánek, Matej, Necpál, Ján, Weise, David, Weber, Sandrina, Mollenhauer, Brit, Trenkwalder, Claudia, Maier, Esther M, Borggraefe, Ingo, Vill, Katharina, Hackenberg, Annette, Pilshofer, Veronika, Kotzaeridou, Urania, Schwaibold, Eva Maria Christina, Hoefele, Julia, Waldenberger, Melanie, Gieger, Christian, Peters, Annette, Meitinger, Thomas, Schormair, Barbara, Winkelmann, Juliane, Oexle, Konrad
Published in Brain (London, England : 1878) (18.04.2022)
Published in Brain (London, England : 1878) (18.04.2022)
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Atypical presentation of Charcot-Marie-Tooth disease type 1C with a new mutation: a case report
Turčanová Koprušáková, Monika, Grofik, Milan, Kantorová, Ema, Jungová, Petra, Chandoga, Ján, Kolisek, Martin, Valkovič, Peter, Škorvánek, Matej, Ploski, Rafal, Kurča, Egon, Sivák, Štefan
Published in BMC neurology (27.07.2021)
Published in BMC neurology (27.07.2021)
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Adherence to Pharmacotherapy in Patients With Parkinson's Disease Taking Three and More Daily Doses of Medication
Straka, Igor, Minár, Michal, Škorvánek, Matej, Grofik, Milan, Danterová, Katarína, Benetin, Ján, Kurča, Egon, Gažová, Andrea, Boleková, Veronika, Wyman-Chick, Kathryn A, Kyselovič, Ján, Valkovič, Peter
Published in Frontiers in neurology (31.07.2019)
Published in Frontiers in neurology (31.07.2019)
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α-synuclein antibody 5G4 identifies idiopathic REM-sleep behavior disorder in abdominal skin biopsies
Tóth, Štefan, Kulcsárová, Kristína, Maretta, Milan, Kunová, Alexandra, Mechírová, Eva, Gdovinová, Zuzana, Feketeová, Eva, Ribeiro Ventosa, Joaquim, Baloghová, Janette, Bekeová, Martina, Christová, Petronela, Mrázová, Soňa, Muránska, Soňa, Zeidan, Dema, Škorvánek, Matej
Published in Parkinsonism & related disorders (01.03.2024)
Published in Parkinsonism & related disorders (01.03.2024)
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Journal Article
Genetic overlap between dystonia and other neurologic disorders: A study of 1,100 exomes
Dzinovic, Ivana, Boesch, Sylvia, Škorvánek, Matej, Necpál, Ján, Švantnerová, Jana, Pavelekova, Petra, Havránková, 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, Zech, Michael
Published in Parkinsonism & related disorders (01.09.2022)
Published in Parkinsonism & related disorders (01.09.2022)
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Journal Article
Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation Dysfunction
Harrer, Philip, Škorvánek, Matej, Kittke, Volker, Dzinovic, Ivana, Borngräber, Friederike, Thomsen, Mirja, Mandel, Vanessa, Svorenova, Tatiana, Ostrozovicova, Miriam, Kulcsarova, Kristina, Berutti, Riccardo, Busch, Hauke, Ott, Fabian, Kopajtich, Robert, Prokisch, Holger, Kumar, Kishore R, Mencacci, Niccolo E, Kurian, Manju A, Di Fonzo, Alessio, Boesch, Sylvia, Kühn, Andrea A, Blümlein, Ulrike, Lohmann, Katja, Haslinger, Bernhard, Weise, David, Jech, Robert, Winkelmann, Juliane, Zech, Michael
Published in Movement disorders (01.10.2023)
Published in Movement disorders (01.10.2023)
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Functional neurological disorder in Europe: regional differences in education and health policy
Serranová, Tereza, Di Vico, Ilaria, Tinazzi, Michele, Aybek, Selma, Bilic, Ervina, Binzer, Stefanie, Bøen, Erlend, Bruggeman, Arnout, Bratanov, Christo, Cabreira, Veronica Raquel Alheia, Golder, Dawn, Dunalska, Anna, Falup‐Pecurariu, Cristian, Garcin, Beatrice, Gelauff, Jeannette, Laffan, Aoife, Podnar, Simon, Pareés, Isabel, Plender, Tom, Popkirov, Stoyan, Romanenko, Volodymyr, Schwingenschuh, Petra, Seliverstov, Yury, Sjöström, Carl, Škorvánek, Matej, Stamelou, Maria, Zailskas, Donatas, Edwards, Mark J., Stone, Jon
Published in European journal of neurology (01.10.2024)
Published in European journal of neurology (01.10.2024)
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Heart Rate Variability in evaluation of autonomic dysfunction in idiopathic REM-sleep behaviour disorder
Ventosa, Joaquim Ribeiro, Kulcsárová, Kristína, Mertová, Lukrécia, Olejár, Maroš, Škorvánek, Matej, Gdovinová, Zuzana, Feketeova, Eva
Published in Neurologia i neurochirurgia polska (01.01.2023)
Published in Neurologia i neurochirurgia polska (01.01.2023)
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Dystonia as a prominent presenting feature in developmental and epileptic encephalopathies: A case series
Dzinovic, Ivana, Škorvánek, Matej, Necpál, Ján, Boesch, Sylvia, Švantnerová, Jana, Wagner, Matias, Havránková, Petra, Pavelekova, Petra, Haň, Vladimír, Janzarik, Wibke G., Berweck, Steffen, Diebold, Isabel, Kuster, Alice, Jech, Robert, Winkelmann, Juliane, Zech, Michael
Published in Parkinsonism & related disorders (01.09.2021)
Published in Parkinsonism & related disorders (01.09.2021)
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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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Predictors of outcome events and 6-year mortality after carotid endarterectomy and carotid stenting in patients with carotid artery stenosis
Leško, Norbert, Maretta, Milan, Škorvánek, Matej, Frankovičová, Mária, Sihotský, Vladimír, Špak, Ľubomír, Gdovinová, Zuzana
Published in Neurologia i neurochirurgia polska (01.01.2021)
Published in Neurologia i neurochirurgia polska (01.01.2021)
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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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Excessive supraventricular activity and risk of atrial fibrillation in patients with cryptogenic ischaemic stroke
Maretta, Milan, Šimurda, Miloš, Leško, Norbert, Gbúr, Miroslav, Škorvánek, Matej, Mišíková, Silvia, Gdovinová, Zuzana
Published in Neurologia i neurochirurgia polska (01.01.2022)
Published in Neurologia i neurochirurgia polska (01.01.2022)
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Recessive null-allele variants in MAG associated with spastic ataxia, nystagmus, neuropathy, and dystonia
Zech, Michael, Brunet, Theresa, Škorvánek, Matej, Blaschek, Astrid, Vill, Katharina, Hanker, Britta, Hüning, Irina, Haň, Vladimír, Došekova, Petra, Gdovinová, Zuzana, Alhaddad, Bader, Berutti, Riccardo, Strom, Tim M., Růžička, Evžen, Kamsteeg, Erik-Jan, van der Smagt, Jasper J., Wagner, Matias, Jech, Robert, Winkelmann, Juliane
Published in Parkinsonism & related disorders (01.08.2020)
Published in Parkinsonism & related disorders (01.08.2020)
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Variant recurrence confirms the existence of a FBXO31‐related spastic‐dystonic cerebral palsy syndrome
Dzinovic, Ivana, Škorvánek, Matej, Pavelekova, Petra, Zhao, Chen, Keren, Boris, Whalen, Sandra, Bakhtiari, Somayeh, Chih Jin, Sheng, Kruer, Michael C., Jech, Robert, Winkelmann, Juliane, Zech, Michael
Published in Annals of clinical and translational neurology (01.04.2021)
Published in Annals of clinical and translational neurology (01.04.2021)
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Endoscopic Complications Are More Frequent in Levodopa-Carbidopa Intestinal Gel Treatment via JET-PEG in Parkinson's Disease Patients Compared to Nutritional PEG in Non-Parkinson's Disease Patients
Gombošová, Laura, Deptová, Jana, Jochmanová, Ivana, Svoreňová, Tatiana, Veseliny, Eduard, Zakuciová, Mária, Haň, Vladimír, Lacková, Alexandra, Kulcsárová, Kristína, Ostrožovičová, Miriama, Ventosa, Joaquim Ribeiro, Trcková, Lenka, Lazúrová, Ivica, Škorvánek, Matej
Published in Journal of clinical medicine (25.01.2024)
Published in Journal of clinical medicine (25.01.2024)
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Global scales for cognitive screening in Parkinson's disease: Critique and recommendations
Skorvanek, Matej, Goldman, Jennifer G., Jahanshahi, Marjan, Marras, Connie, Rektorova, Irena, Schmand, Ben, van Duijn, Erik, Goetz, Christopher G., Weintraub, Daniel, Stebbins, Glenn T., Martinez‐Martin, Pablo
Published in Movement disorders (01.02.2018)
Published in Movement disorders (01.02.2018)
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Update on the Management of Parkinson’s Disease for General Neurologists
Relja, Maja, Milanov, Ivan, Kovács, Norbert, Bajenaru, Ovidiu, Pirtošek, Zvezdan, Skorvanek, Matej
Published in Parkinson's disease (2020)
Published in Parkinson's disease (2020)
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Impact of the COVID-19 outbreak on neurological consultation in an emergency department
Maretta, Milan, Škorvánek, Matej, Jurková, Veronika, Leško, Norbert, Gdovinová, Zuzana
Published in Acta neurologica Belgica (01.02.2023)
Published in Acta neurologica Belgica (01.02.2023)
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