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A de novo GRIA3 variant with complex hyperkinetic movement disorder in a girl with developmental delay and self-limited epilepsy

Necpál, Ján
Autor Necpál, Ján 2nd Department of Neurology, Faculty of Medicine, Comenius University, Bratislava, Slovakia; Department of Neurology, Zvolen Hospital, Zvolen, Slovakia. Electronic address: necpal.neuro@gmail.com
Winkelmann, Juliane
Autor Winkelmann, Juliane Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany; Lehrstuhl für Neurogenetik, Technische Universität München, Munich, Germany; Munich Cluster for Systems Neurology, SyNergy, Munich, Germany
Zech, Michael
Autor Zech, Michael Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany
Jech, Robert
Autor Jech, Robert Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic

Parkinsonism & related disorders. 2023 Jun ; 111 () : 105437. [epub] 20230505

Parkinsonism Relat Disord
ISSN 1873-5126 | 1353-8020
Zdroj

Jazyk angličtina Země Anglie, Velká Británie Médium print-electronic

Typ dokumentu dopisy, práce podpořená grantem

Perzistentní odkaz https://www.medvik.cz/link/pmid37163803

PubMed 37163803
DOI 10.1016/j.parkreldis.2023.105437
PII: S1353-8020(23)00160-8
Knihovny.cz E-zdroje

2nd Department of Neurology Faculty of Medicine Comenius University Bratislava Slovakia; Department of Neurology Zvolen Hospital Zvolen Slovakia

Department of Neurology and Center of Clinical Neuroscience 1st Faculty of Medicine Charles University and General University Hospital Prague Prague Czech Republic

Institute of Neurogenomics Helmholtz Zentrum München Munich Germany; Institute of Human Genetics School of Medicine Technical University of Munich Munich Germany

Institute of Neurogenomics Helmholtz Zentrum München Munich Germany; Institute of Human Genetics School of Medicine Technical University of Munich Munich Germany; Lehrstuhl für Neurogenetik Technische Universität München Munich Germany; Munich Cluster for Systems Neurology SyNergy Munich Germany

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