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Wyszukujesz frazę ""Fečíková, Anna"" wg kryterium: Autor


Wyświetlanie 1-12 z 12
Tytuł :
Monogenic variants in dystonia: an exome-wide sequencing study.
Autorzy :
Zech M; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute of Human Genetics, Technical University of Munich, Munich, Germany.
Jech R; Department of Neurology, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Boesch S; Department of Neurology, Medical University Innsbruck, Innsbruck, Austria.
Škorvánek M; Department of Neurology, Pavol Jozef Šafárik University, Košice, Slovakia; Department of Neurology, University Hospital of Louis Pasteur, Košice, Slovakia.
Weber S; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute of Human Genetics, Technical University of Munich, Munich, Germany.
Wagner M; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute of Human Genetics, Technical University of Munich, Munich, Germany.
Zhao C; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.
Jochim A; Klinik und Poliklinik für Neurologie, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.
Necpál J; Department of Neurology, Zvolen Hospital, Zvolen, Slovakia.
Dincer Y; Lehrstuhl für Sozialpädiatrie, Technical University of Munich, Munich, Germany; Zentrum für Humangenetik und Laboratoriumsdiagnostik, Martinsried, Germany.
Vill K; Dr von Haunersches Kinderspital, Ludwig-Maximilians-Universität München, Munich, Germany.
Distelmaier F; Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine-University, Düsseldorf, Germany.
Stoklosa M; Department of Neonatology, Clinical Hospital No 2, Rzeszow, Poland.
Krenn M; Institute of Human Genetics, Technical University of Munich, Munich, Germany; Department of Neurology, Medical University of Vienna, Vienna, Austria.
Grunwald S; Crystallography, Max Delbrück Center for Molecular Medicine, Berlin, Germany; Institute of Chemistry and Biochemistry, Free University of Berlin, Berlin, Germany.
Bock-Bierbaum T; Crystallography, Max Delbrück Center for Molecular Medicine, Berlin, Germany; Institute of Chemistry and Biochemistry, Free University of Berlin, Berlin, Germany.
Fečíková A; Department of Neurology, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Havránková P; Department of Neurology, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Roth J; Department of Neurology, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Příhodová I; Department of Neurology, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Adamovičová M; Department of Paediatric Neurology, Thomayer Hospital, Prague, Czech Republic.
Ulmanová O; Department of Neurology, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Bechyně K; Department of Neurology, Hospital Písek, Pisek, Czech Republic.
Danhofer P; Department of Child Neurology, Faculty of Medicine of Masaryk University Brno and University Hospital, Brno, Czech Republic.
Veselý B; Department of Neurology, Faculty Hospital, Constantine the Philosopher University, Nitra, Slovakia.
Haň V; Department of Neurology, Pavol Jozef Šafárik University, Košice, Slovakia; Department of Neurology, University Hospital of Louis Pasteur, Košice, Slovakia.
Pavelekova P; Department of Neurology, Pavol Jozef Šafárik University, Košice, Slovakia; Department of Neurology, University Hospital of Louis Pasteur, Košice, Slovakia.
Gdovinová Z; Department of Neurology, Pavol Jozef Šafárik University, Košice, Slovakia; Department of Neurology, University Hospital of Louis Pasteur, Košice, Slovakia.
Mantel T; Klinik und Poliklinik für Neurologie, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.
Meindl T; Klinik und Poliklinik für Neurologie, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.
Sitzberger A; Dr von Haunersches Kinderspital, Ludwig-Maximilians-Universität München, Munich, Germany.
Schröder S; Dr von Haunersches Kinderspital, Ludwig-Maximilians-Universität München, Munich, Germany.
Blaschek A; Dr von Haunersches Kinderspital, Ludwig-Maximilians-Universität München, Munich, Germany.
Roser T; Dr von Haunersches Kinderspital, Ludwig-Maximilians-Universität München, Munich, Germany.
Bonfert MV; Dr von Haunersches Kinderspital, Ludwig-Maximilians-Universität München, Munich, Germany.
Haberlandt E; Clinic for Pediatrics, Krankenhaus Stadt Dornbirn, Dornbirn, Austria.
Plecko B; Department of Pediatrics and Adolescent Medicine, Division of General Pediatrics, Medical University of Graz, Graz, Austria.
Leineweber B; Sozialpädiatrisches Zentrum, Klinikum Dritter Orden, Munich, Germany.
Berweck S; Ludwig-Maximilians-Universität München, Munich, Germany; Hospital for Neuropediatrics and Neurological Rehabilitation, Centre of Epilepsy for Children and Adolescents, Schoen Klinik Vogtareuth, Vogtareuth, Germany.
Herberhold T; Hospital for Neuropediatrics and Neurological Rehabilitation, Centre of Epilepsy for Children and Adolescents, Schoen Klinik Vogtareuth, Vogtareuth, Germany.
Langguth B; Department of Psychiatry and Psychotherapy, University of Regensburg, Regensburg, Germany.
Švantnerová J; Second Department of Neurology, Faculty of Medicine, Comenius University, University Hospital Bratislava, Bratislava, Slovakia.
Minár M; Second Department of Neurology, Faculty of Medicine, Comenius University, University Hospital Bratislava, Bratislava, Slovakia.
Ramos-Rivera GA; Department of Pediatric Neurology, National Institute of Children's Diseases, Bratislava, Slovakia.
Wojcik MH; Divisions of Newborn Medicine and Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Pajusalu S; Department of Clinical Genetics, Tartu University Hospital, Tartu, Estonia; Department of Clinical Genetics, University of Tartu, Tartu, Estonia; Department of Genetics, Yale School of Medicine, New Haven, CT, USA.
Õunap K; Department of Clinical Genetics, Tartu University Hospital, Tartu, Estonia; Department of Clinical Genetics, University of Tartu, Tartu, Estonia.
Schatz UA; Institute of Human Genetics, Technical University of Munich, Munich, Germany; Institute of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.
Pölsler L; Institute of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.
Milenkovic I; Department of Neurology, Medical University of Vienna, Vienna, Austria.
Laccone F; Institute of Medical Genetics, Medical University of Vienna, Vienna, Austria.
Pilshofer V; Ordensklinikum Linz, Barmherzige Schwestern, Linz, Austria.
Colombo R; Fondazione Policlinico Universitario A Gemelli IRCCS, Università Cattolica del Sacro Cuore, Rome, Italy.
Patzer S; Klinik für Kinder-und Jugendmedizin St Elisabeth und St Barbara, Halle, Germany.
Iuso A; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute of Human Genetics, Technical University of Munich, Munich, Germany.
Vera J; Child Neurology Service, Hospital San Borja Arriarán, University of Chile, Santiago, Chile.
Troncoso M; Child Neurology Service, Hospital San Borja Arriarán, University of Chile, Santiago, Chile.
Fang F; Department of Neurology, National Center for Children's Health, Beijing Children's Hospital and Capital Medical University, Beijing, China.
Prokisch H; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute of Human Genetics, Technical University of Munich, Munich, Germany.
Wilbert F; Department of Neuropediatrics and Muscle Disorders, University Medical Center, University of Freiburg, Freiburg im Breisgau, Germany.
Eckenweiler M; Department of Neuropediatrics and Muscle Disorders, University Medical Center, University of Freiburg, Freiburg im Breisgau, Germany.
Graf E; Institute of Human Genetics, Technical University of Munich, Munich, Germany.
Westphal DS; Institute of Human Genetics, Technical University of Munich, Munich, Germany.
Riedhammer KM; Institute of Human Genetics, Technical University of Munich, Munich, Germany; Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.
Brunet T; Institute of Human Genetics, Technical University of Munich, Munich, Germany.
Alhaddad B; Institute of Human Genetics, Technical University of Munich, Munich, Germany.
Berutti R; Institute of Human Genetics, Technical University of Munich, Munich, Germany.
Strom TM; Institute of Human Genetics, Technical University of Munich, Munich, Germany.
Hecht M; Neurologische Klinik am Klinikum Kaufbeuren, Bezirkskliniken Schwaben, Kaufbeuren, Germany.
Baumann M; Department of Pediatrics, Medical University Innsbruck, Innsbruck, Austria.
Wolf M; Neurologische Klinik, Klinikum Stuttgart, Stuttgart, Germany; Neurologische Klinik, Universitätsmedizin Mannheim, Mannheim, University of Heidelberg, Mannheim, Germany.
Telegrafi A; GeneDx, Gaithersburg, MD, USA.
Person RE; GeneDx, Gaithersburg, MD, USA.
Zamora FM; GeneDx, Gaithersburg, MD, USA.
Henderson LB; GeneDx, Gaithersburg, MD, USA.
Weise D; Klinik für Neurologie, Asklepios Fachklinikum Stadtroda, Stadtroda, Germany.
Musacchio T; Department of Neurology, University Hospital Würzburg, Würzburg, Germany.
Volkmann J; Department of Neurology, University Hospital Würzburg, Würzburg, Germany.
Szuto A; Division of Clinical and Metabolic Genetics, Hospital for Sick Children and University of Toronto, Toronto, ON, Canada; Department of Paediatrics, Hospital for Sick Children and University of Toronto, Toronto, ON, Canada.
Becker J; Institute of Human Genetics, University of Bonn and University Hospital Bonn, Bonn, Germany.
Cremer K; Institute of Human Genetics, University of Bonn and University Hospital Bonn, Bonn, Germany.
Sycha T; Department of Neurology, Medical University of Vienna, Vienna, Austria.
Zimprich F; Department of Neurology, Medical University of Vienna, Vienna, Austria.
Kraus V; Department of Paediatrics, School of Medicine, Technical University of Munich, Munich, Germany.
Makowski C; Department of Paediatrics, School of Medicine, Technical University of Munich, Munich, Germany.
Gonzalez-Alegre P; Department of Neurology, Perelman School of Medicine, The University of Pennsylvania, Philadelphia, PA, USA.
Bardakjian TM; Department of Neurology, Perelman School of Medicine, The University of Pennsylvania, Philadelphia, PA, USA.
Ozelius LJ; Department of Neurology, Massachusetts General Hospital, Charlestown, MA, USA.
Vetro A; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence, Florence, Italy.
Guerrini R; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence, Florence, Italy.
Maier E; Dr von Haunersches Kinderspital, Ludwig-Maximilians-Universität München, Munich, Germany.
Borggraefe I; Dr von Haunersches Kinderspital, Ludwig-Maximilians-Universität München, Munich, Germany.
Kuster A; Inborn Errors of Metabolism, Pediatric Intensive Care Unit, University Hospital of Nantes, Nantes, France.
Wortmann SB; Institute of Human Genetics, Technical University of Munich, Munich, Germany; University Children's Hospital, Salzburger Landeskliniken and Paracelsus Medical University, Salzburg, Austria; Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Amalia Children's Hospital, Radboudumc, Nijmegen, Netherlands.
Hackenberg A; Department of Pediatric Neurology, University Children's Hospital, Zürich, Switzerland.
Steinfeld R; Department of Pediatric Neurology, University Children's Hospital, Zürich, Switzerland.
Assmann B; Division of Neuropediatrics and Metabolic Medicine, Department of General Pediatrics, University Hospital Heidelberg, Heidelberg, Germany.
Staufner C; Division of Neuropediatrics and Metabolic Medicine, Department of General Pediatrics, University Hospital Heidelberg, Heidelberg, Germany.
Opladen T; Division of Neuropediatrics and Metabolic Medicine, Department of General Pediatrics, University Hospital Heidelberg, Heidelberg, Germany.
Růžička E; Department of Neurology, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Cohn RD; Department of Paediatrics, Hospital for Sick Children and University of Toronto, Toronto, ON, Canada; Hospital for Sick Children Research Institute, Hospital for Sick Children and University of Toronto, Toronto, ON, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.
Dyment D; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.
Chung WK; Department of Pediatrics and Department of Medicine, Columbia University, New York, NY, USA.
Engels H; Institute of Human Genetics, University of Bonn and University Hospital Bonn, Bonn, Germany.
Ceballos-Baumann A; Schön Klinik München Schwabing, Munich, Germany.
Ploski R; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
Daumke O; Crystallography, Max Delbrück Center for Molecular Medicine, Berlin, Germany; Institute of Chemistry and Biochemistry, Free University of Berlin, Berlin, Germany.
Haslinger B; Klinik und Poliklinik für Neurologie, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.
Mall V; Lehrstuhl für Sozialpädiatrie, Technical University of Munich, Munich, Germany; kbo-Kinderzentrum München, Munich, Germany.
Oexle K; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.
Winkelmann J; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute of Human Genetics, Technical University of Munich, Munich, Germany; Lehrstuhl für Neurogenetik, Technical University of Munich, Munich, Germany; Munich Cluster for Systems Neurology, SyNergy, Munich, Germany. Electronic address: .
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Źródło :
The Lancet. Neurology [Lancet Neurol] 2020 Nov; Vol. 19 (11), pp. 908-918.
Typ publikacji :
Journal Article; Multicenter Study; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Dystonia/*diagnosis
Dystonia/*genetics
Exome/*genetics
Genetic Variation/*genetics
Whole Exome Sequencing/*methods
Adolescent ; Child ; Child, Preschool ; Dystonia/epidemiology ; Female ; Humans ; Infant ; Infant, Newborn ; Male ; Pedigree ; Young Adult
Czasopismo naukowe
Tytuł :
Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia.
Autorzy :
Khan K; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC, USA.; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan.; Pakistan Institute of Engineering and Applied Sciences (PIEAS), Islamabad, Pakistan.
Zech M; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institut für Humangenetik, Technische Universität München, Munich, Germany.
Morgan AT; Murdoch Children's Research Institute and University of Melbourne Department of Paediatrics, Royal Children's Hospital, Parkville, Australia.
Amor DJ; Murdoch Children's Research Institute and University of Melbourne Department of Paediatrics, Royal Children's Hospital, Parkville, Australia.
Skorvanek M; Department of Neurology, P.J. Safarik University, Kosice, Slovak Republic.; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic.
Khan TN; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC, USA.; Department of Biological Sciences, National University of Medical Sciences, Rawalpindi, Pakistan.
Hildebrand MS; Murdoch Children's Research Institute and University of Melbourne Department of Paediatrics, Royal Children's Hospital, Parkville, Australia.; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC, Australia.
Jackson VE; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, and University of Melbourne Department of Medical Biology and School of Mathematics and Statistics, Parkville, VIC, Australia.
Scerri TS; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, and University of Melbourne Department of Medical Biology and School of Mathematics and Statistics, Parkville, VIC, Australia.
Coleman M; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC, Australia.
Rigbye KA; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC, Australia.
Scheffer IE; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC, Australia.; University of Melbourne Department of Paediatrics, Royal Children's Hospital, and Florey and Murdoch Children's Research Institute, Parkville, VIC, Australia.
Bahlo M; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, and University of Melbourne Department of Medical Biology and School of Mathematics and Statistics, Parkville, VIC, Australia.
Wagner M; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institut für Humangenetik, Technische Universität München, Munich, Germany.
Lam DD; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.
Berutti R; Institut für Humangenetik, Helmholtz Zentrum München, Munich, Germany.
Havránková P; Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General Faculty Hospital, Prague, Czech Republic.
Fečíková A; Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General Faculty Hospital, Prague, Czech Republic.
Strom TM; Institut für Humangenetik, Technische Universität München, Munich, Germany.; Institut für Humangenetik, Helmholtz Zentrum München, Munich, Germany.
Han V; Department of Neurology, P.J. Safarik University, Kosice, Slovak Republic.; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic.
Dosekova P; Department of Neurology, P.J. Safarik University, Kosice, Slovak Republic.; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic.
Gdovinova Z; Department of Neurology, P.J. Safarik University, Kosice, Slovak Republic.; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic.
Laccone F; Institute of Medical Genetics, Medical School of Vienna, Vienna, Austria.
Jameel M; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan.
Mooney MR; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC, USA.
Baig SM; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan.; Pakistan Institute of Engineering and Applied Sciences (PIEAS), Islamabad, Pakistan.
Jech R; Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General Faculty Hospital, Prague, Czech Republic.
Davis EE; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC, USA.
Katsanis N; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC, USA. .
Winkelmann J; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany. .; Institut für Humangenetik, Technische Universität München, Munich, Germany. .; Lehrstuhl für Neurogenetik, Technische Universität München, Munich, Germany. .; Munich Cluster for Systems Neurology, SyNergy, Munich, Germany. .
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Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Nov; Vol. 21 (11), pp. 2532-2542. Date of Electronic Publication: 2019 Apr 30.
Typ publikacji :
Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Developmental Disabilities/*genetics
Neurodevelopmental Disorders/*genetics
Trans-Activators/*genetics
Adolescent ; Adult ; Child ; Cohort Studies ; Computational Biology/methods ; Dystonia/genetics ; Family ; Female ; Humans ; Intellectual Disability/genetics ; Mutation ; Mutation, Missense ; Pedigree ; Phenotype ; Seizures/genetics ; Speech Disorders/genetics ; Trans-Activators/metabolism ; Whole Exome Sequencing
Czasopismo naukowe
Tytuł :
Prepulse inhibition of the blink reflex is abnormal in functional movement disorders.
Autorzy :
Hanzlíková Z; Department of Neurology and Center of Clinical Neuroscience, Charles University in Prague, 1st Faculty of Medicine and General University Hospital, Prague, Czech Republic.
Kofler M; Department of Neurology, Hochzirl Hospital, Hochzirl, Austria.
Slovák M; Department of Neurology and Center of Clinical Neuroscience, Charles University in Prague, 1st Faculty of Medicine and General University Hospital, Prague, Czech Republic.
Věchetová G; Department of Neurology and Center of Clinical Neuroscience, Charles University in Prague, 1st Faculty of Medicine and General University Hospital, Prague, Czech Republic.
Fečíková A; Department of Neurology and Center of Clinical Neuroscience, Charles University in Prague, 1st Faculty of Medicine and General University Hospital, Prague, Czech Republic.
Kemlink D; Department of Neurology and Center of Clinical Neuroscience, Charles University in Prague, 1st Faculty of Medicine and General University Hospital, Prague, Czech Republic.
Sieger T; Department of Neurology and Center of Clinical Neuroscience, Charles University in Prague, 1st Faculty of Medicine and General University Hospital, Prague, Czech Republic.; Department of Cybernetics, Faculty of Electrical Engineering, Czech Technical University in Prague, Prague, Czech Republic.
Růžička E; Department of Neurology and Center of Clinical Neuroscience, Charles University in Prague, 1st Faculty of Medicine and General University Hospital, Prague, Czech Republic.
Valls-Solé J; Neurology Service, Hospital Clíınic, Facultad de Medicina, Universitat de Barcelona, Barcelona, Spain.
Edwards MJ; Neuroscience Research Centre, Institute of Molecular and Clinical Sciences, St George's University of London, London, United Kingdom.
Serranová T; Department of Neurology and Center of Clinical Neuroscience, Charles University in Prague, 1st Faculty of Medicine and General University Hospital, Prague, Czech Republic.
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Źródło :
Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2019 Jul; Vol. 34 (7), pp. 1022-1030. Date of Electronic Publication: 2019 May 02.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Blinking/*physiology
Movement Disorders/*physiopathology
Neural Inhibition/*physiology
Prepulse Inhibition/*physiology
Adult ; Electric Stimulation/methods ; Female ; Fingers/physiopathology ; Humans ; Male ; Middle Aged ; Reflex, Startle/physiology
Czasopismo naukowe
Tytuł :
Effect of pallidal deep-brain stimulation on articulation rate in dystonia.
Autorzy :
Rusz J; Department of Circuit Theory, Faculty of Electrical Engineering, Czech Technical University in Prague, Prague, Czech Republic. .; Department of Neurology and Centre of Clinical Neuroscience, First Faculty of Medicine, Charles University, Prague, Czech Republic. .
Fečíková A; Department of Neurology and Centre of Clinical Neuroscience, First Faculty of Medicine, Charles University, Prague, Czech Republic.
Tykalová T; Department of Circuit Theory, Faculty of Electrical Engineering, Czech Technical University in Prague, Prague, Czech Republic.
Jech R; Department of Neurology and Centre of Clinical Neuroscience, First Faculty of Medicine, Charles University, Prague, Czech Republic.
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Źródło :
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2019 Apr; Vol. 40 (4), pp. 869-873. Date of Electronic Publication: 2019 Jan 08.
Typ publikacji :
Journal Article
MeSH Terms :
Globus Pallidus*
Deep Brain Stimulation/*adverse effects
Dysarthria/*etiology
Dystonic Disorders/*therapy
Adolescent ; Adult ; Aged ; Female ; Humans ; Male ; Middle Aged ; Young Adult
Czasopismo naukowe
Tytuł :
A unique de novo gain-of-function variant in CAMK4 associated with intellectual disability and hyperkinetic movement disorder.
Autorzy :
Zech M; Institut für Neurogenomik, Helmholtz Zentrum München, Munich, 85764, Germany.; Klinik und Poliklinik für Neurologie, Klinikum rechts der Isar, Technische Universität München, Munich, 81675, Germany.
Lam DD; Institut für Neurogenomik, Helmholtz Zentrum München, Munich, 85764, Germany.
Weber S; Institut für Neurogenomik, Helmholtz Zentrum München, Munich, 85764, Germany.
Berutti R; Institut für Humangenetik, Helmholtz Zentrum München, Munich, 85764, Germany.
Poláková K; Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General Faculty Hospital, Prague, 120 00, Czech Republic.
Havránková P; Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General Faculty Hospital, Prague, 120 00, Czech Republic.
Fečíková A; Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General Faculty Hospital, Prague, 120 00, Czech Republic.
Strom TM; Institut für Humangenetik, Helmholtz Zentrum München, Munich, 85764, Germany.; Institut für Humangenetik, Technische Universität München, Munich, 81675, Germany.
Růžička E; Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General Faculty Hospital, Prague, 120 00, Czech Republic.
Jech R; Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General Faculty Hospital, Prague, 120 00, Czech Republic.
Winkelmann J; Institut für Neurogenomik, Helmholtz Zentrum München, Munich, 85764, Germany.; Institut für Humangenetik, Technische Universität München, Munich, 81675, Germany.; Lehrstuhl für Neurogenetik, Technische Universität München, Munich, 80333, Germany.; Munich Cluster for Systems Neurology, SyNergy, Munich, 81377, Germany.
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Źródło :
Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2018 Dec 17; Vol. 4 (6). Date of Electronic Publication: 2018 Dec 17 (Print Publication: 2018).
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Calcium-Calmodulin-Dependent Protein Kinase Type 4/*genetics
Hyperkinesis/*genetics
Intellectual Disability/*genetics
Calcium-Calmodulin-Dependent Protein Kinase Type 4/metabolism ; Cerebellar Ataxia/genetics ; Codon, Nonsense/genetics ; Exome ; Exons/genetics ; Female ; Frameshift Mutation/genetics ; Gain of Function Mutation/genetics ; Humans ; Male ; Mutation ; Pedigree ; Phenotype ; RNA Splicing/genetics ; Whole Exome Sequencing
Czasopismo naukowe
Tytuł :
Benefits of pallidal stimulation in dystonia are linked to cerebellar volume and cortical inhibition.
Autorzy :
Fečíková A; Department of Neurology and Centre of Clinical Neuroscience, First Faculty of Medicine and General University Hospital, Charles University, Prague, Czech Republic.
Jech R; Department of Neurology and Centre of Clinical Neuroscience, First Faculty of Medicine and General University Hospital, Charles University, Prague, Czech Republic. .
Čejka V; Department of Neurology and Centre of Clinical Neuroscience, First Faculty of Medicine and General University Hospital, Charles University, Prague, Czech Republic.; Faculty of Biomedical Engineering, Czech Technical University in Prague, Prague, Czech Republic.
Čapek V; Department of Neurology and Centre of Clinical Neuroscience, First Faculty of Medicine and General University Hospital, Charles University, Prague, Czech Republic.
Šťastná D; Department of Neurosurgery, Na Homolce Hospital, Prague, Czech Republic.
Štětkářová I; Department of Neurology, Third Faculty of Medicine, Charles University and Faculty Hospital Kralovske Vinohrady, Prague, Czech Republic.
Mueller K; Max Planck Institute for Human Cognitive and Brain Sciences, Leipzig, Germany.
Schroeter ML; Max Planck Institute for Human Cognitive and Brain Sciences, Leipzig, Germany.; Clinic for Cognitive Neurology, University Hospital, Leipzig, Germany.
Růžička F; Department of Neurology and Centre of Clinical Neuroscience, First Faculty of Medicine and General University Hospital, Charles University, Prague, Czech Republic.
Urgošík D; Department of Stereotactic and Radiation Neurosurgery, Na Homolce Hospital, Prague, Czech Republic.
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Źródło :
Scientific reports [Sci Rep] 2018 Nov 21; Vol. 8 (1), pp. 17218. Date of Electronic Publication: 2018 Nov 21.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Neural Inhibition*
Deep Brain Stimulation/*methods
Dystonia/*therapy
Globus Pallidus/*physiology
Motor Cortex/*physiology
Adolescent ; Adult ; Aged ; Cerebellum/physiology ; Female ; Humans ; Male ; Middle Aged ; Treatment Outcome ; Young Adult
Czasopismo naukowe
Tytuł :
Dualistic effect of pallidal deep brain stimulation on motor speech disorders in dystonia.
Autorzy :
Rusz J; Department of Circuit Theory, Faculty of Electrical Engineering, Czech Technical University in Prague, Prague, Czech Republic; Department of Neurology and Centre of Clinical Neuroscience, First Faculty of Medicine, Charles University, Prague, Czech Republic. Electronic address: .
Tykalová T; Department of Circuit Theory, Faculty of Electrical Engineering, Czech Technical University in Prague, Prague, Czech Republic.
Fečíková A; Department of Neurology and Centre of Clinical Neuroscience, First Faculty of Medicine, Charles University, Prague, Czech Republic.
Šťastná D; Na Homolce Hospital, Prague, Czech Republic.
Urgošík D; Na Homolce Hospital, Prague, Czech Republic.
Jech R; Department of Neurology and Centre of Clinical Neuroscience, First Faculty of Medicine, Charles University, Prague, Czech Republic.
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Źródło :
Brain stimulation [Brain Stimul] 2018 Jul - Aug; Vol. 11 (4), pp. 896-903. Date of Electronic Publication: 2018 Mar 15.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Deep Brain Stimulation/*methods
Dystonia/*physiopathology
Dystonia/*therapy
Globus Pallidus/*physiology
Speech Disorders/*physiopathology
Speech Disorders/*therapy
Adolescent ; Adult ; Aged ; Cross-Sectional Studies ; Deep Brain Stimulation/adverse effects ; Female ; Humans ; Male ; Middle Aged ; Speech Disorders/etiology ; Treatment Outcome ; Young Adult
Czasopismo naukowe
Tytuł :
Ataxia Telangiectasia Gene Mutation in Isolated Segmental Dystonia Without Ataxia and Telangiectasia.
Autorzy :
Necpál J; Department of Neurology Zvolen Hospital Zvolen Slovakia.
Zech M; Institut für Neurogenomik Helmholtz Zentrum München Munich Germany.; Klinik und Poliklinik für Neurologie Klinikum rechts der Isar Technische Universität München Munich Germany.
Škorvánek M; Department of Neurology Safarik University Kosice Slovakia.
Havránková P; Department of Neurology and Center of Clinical Neuroscience First Faculty of Medicine Charles University and General Faculty Hospital Prague Czech Republic.
Fečíková A; Department of Neurology and Center of Clinical Neuroscience First Faculty of Medicine Charles University and General Faculty Hospital Prague Czech Republic.
Winkelmann J; Institut für Neurogenomik Helmholtz Zentrum München Munich Germany.; Klinik und Poliklinik für Neurologie Klinikum rechts der Isar Technische Universität München Munich Germany.; Institut für Humangenetik Technische Universität München Munich Germany.; Munich Cluster for Systems Neurology SyNergy Munich Germany.
Jech R; Department of Neurology and Center of Clinical Neuroscience First Faculty of Medicine Charles University and General Faculty Hospital Prague Czech Republic.
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Źródło :
Movement disorders clinical practice [Mov Disord Clin Pract] 2017 Dec 03; Vol. 5 (1), pp. 89-91. Date of Electronic Publication: 2017 Dec 03 (Print Publication: 2018).
Typ publikacji :
Case Reports
Raport
Tytuł :
Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing.
Autorzy :
Zech M; Institut für Neurogenomik, Helmholtz Zentrum München, Ingolstädter Landstraße 1, 85764, Neuherberg, Germany.; Klinik und Poliklinik für Neurologie, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.
Jech R; Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General Faculty Hospital, Prague, Czech Republic.
Wagner M; Institut für Neurogenomik, Helmholtz Zentrum München, Ingolstädter Landstraße 1, 85764, Neuherberg, Germany.; Institut für Humangenetik, Technische Universität München, Munich, Germany.
Mantel T; Klinik und Poliklinik für Neurologie, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.
Boesch S; Department of Neurology, Medical University Innsbruck, Innsbruck, Austria.
Nocker M; Department of Neurology, Medical University Innsbruck, Innsbruck, Austria.
Jochim A; Klinik und Poliklinik für Neurologie, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.
Berutti R; Institut für Humangenetik, Helmholtz Zentrum München, Munich, Germany.
Havránková P; Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General Faculty Hospital, Prague, Czech Republic.
Fečíková A; Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General Faculty Hospital, Prague, Czech Republic.
Kemlink D; Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General Faculty Hospital, Prague, Czech Republic.
Roth J; Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General Faculty Hospital, Prague, Czech Republic.
Strom TM; Institut für Humangenetik, Technische Universität München, Munich, Germany.; Institut für Humangenetik, Helmholtz Zentrum München, Munich, Germany.
Poewe W; Department of Neurology, Medical University Innsbruck, Innsbruck, Austria.
Růžička E; Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General Faculty Hospital, Prague, Czech Republic.
Haslinger B; Klinik und Poliklinik für Neurologie, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.
Winkelmann J; Institut für Neurogenomik, Helmholtz Zentrum München, Ingolstädter Landstraße 1, 85764, Neuherberg, Germany. .; Klinik und Poliklinik für Neurologie, Klinikum rechts der Isar, Technische Universität München, Munich, Germany. .; Institut für Humangenetik, Technische Universität München, Munich, Germany. .; Munich Cluster for Systems Neurology, SyNergy, Munich, Germany. .
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Źródło :
Neurogenetics [Neurogenetics] 2017 Dec; Vol. 18 (4), pp. 195-205. Date of Electronic Publication: 2017 Aug 28.
Typ publikacji :
Journal Article
MeSH Terms :
Dystonia/*genetics
Dystonic Disorders/*genetics
Exome/*genetics
Mutation/*genetics
Adenylyl Cyclases/genetics ; Adult ; Dystonia/diagnosis ; Dystonic Disorders/diagnosis ; Female ; GABA Plasma Membrane Transport Proteins/genetics ; Genetic Testing/methods ; Humans ; Male ; Middle Aged ; Phenotype ; Sodium-Potassium-Exchanging ATPase/genetics
Czasopismo naukowe
Tytuł :
KMT2B rare missense variants in generalized dystonia.
Autorzy :
Zech M; Institut für Neurogenomik, Helmholtz Zentrum München, Munich, Germany.; Klinik und Poliklinik für Neurologie, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.
Jech R; Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General Faculty Hospital, Prague, Czech Republic.
Havránková P; Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General Faculty Hospital, Prague, Czech Republic.
Fečíková A; Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General Faculty Hospital, Prague, Czech Republic.
Berutti R; Institut für Humangenetik, Helmholtz Zentrum München, Munich, Germany.
Urgošík D; Department of Stereotactic Neurosurgery and Radiosurgery, Na Homolce Hospital, Prague, Czech Republic.
Kemlink D; Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General Faculty Hospital, Prague, Czech Republic.
Strom TM; Institut für Humangenetik, Helmholtz Zentrum München, Munich, Germany.; Institut für Humangenetik, Technische Universität München, Munich, Germany.
Roth J; Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General Faculty Hospital, Prague, Czech Republic.
Růžička E; Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General Faculty Hospital, Prague, Czech Republic.
Winkelmann J; Institut für Neurogenomik, Helmholtz Zentrum München, Munich, Germany.; Klinik und Poliklinik für Neurologie, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.; Institut für Humangenetik, Technische Universität München, Munich, Germany.; Munich Cluster for Systems Neurology, SyNergy, Munich, Germany.
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Źródło :
Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2017 Jul; Vol. 32 (7), pp. 1087-1091. Date of Electronic Publication: 2017 May 18.
Typ publikacji :
Journal Article
MeSH Terms :
Dystonic Disorders/*genetics
Histone-Lysine N-Methyltransferase/*genetics
Adult ; Female ; Humans ; Male ; Middle Aged ; Mutation, Missense
Czasopismo naukowe
Tytuł :
Pallidal stimulation in dystonia affects cortical but not spinal inhibitory mechanisms.
Autorzy :
Boček V; Department of Neurology, Charles University, Third Faculty of Medicine, Charles University in Prague and Faculty Hospital Kralovske Vinohrady, Czech Republic.
Štětkářová I; Department of Neurology, Charles University, Third Faculty of Medicine, Charles University in Prague and Faculty Hospital Kralovske Vinohrady, Czech Republic. Electronic address: .
Fečíková A; Department of Neurology and Center of Clinical Neuroscience, Charles University in Prague, 1(st) Faculty of Medicine and General University Hospital in Prague, Czech Republic.
Čejka V; Department of Neurology and Center of Clinical Neuroscience, Charles University in Prague, 1(st) Faculty of Medicine and General University Hospital in Prague, Czech Republic.
Urgošík D; Department of Stereotactic and Radiation Neurosurgery, Na Homolce Hospital, Prague, Czech Republic.
Jech R; Department of Neurology and Center of Clinical Neuroscience, Charles University in Prague, 1(st) Faculty of Medicine and General University Hospital in Prague, Czech Republic.
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Źródło :
Journal of the neurological sciences [J Neurol Sci] 2016 Oct 15; Vol. 369, pp. 19-26. Date of Electronic Publication: 2016 Jul 25.
Typ publikacji :
Journal Article
MeSH Terms :
Cerebral Cortex/*physiopathology
Cortical Spreading Depression/*physiology
Deep Brain Stimulation/*methods
Dystonia/*therapy
Globus Pallidus/*physiology
Neural Inhibition/*physiology
Spinal Cord/*physiopathology
Adult ; Aged ; Evoked Potentials, Motor/physiology ; Female ; H-Reflex/physiology ; Humans ; Male ; Middle Aged ; Severity of Illness Index ; Young Adult
Czasopismo naukowe
Tytuł :
Difficulties in diagnosis of solitary and sporadic epileptic seizures.
Autorzy :
Kollar B; 1st Department of Neurology, University Hospital, Comenius University, Bratislava, Slovakia. />Klobucnikova K
Fecikova A
Borovska J
Pokaż więcej
Źródło :
Neuro endocrinology letters [Neuro Endocrinol Lett] 2010; Vol. 31 (6), pp. 814-7.
Typ publikacji :
Journal Article
MeSH Terms :
Electroencephalography*
Magnetic Resonance Imaging*
Tomography, X-Ray Computed*
Epilepsy/*diagnosis
Adult ; Diagnosis, Differential ; Epilepsy/diagnostic imaging ; Epilepsy/pathology ; Epilepsy/physiopathology ; Female ; Humans ; Male ; Middle Aged ; Reproducibility of Results ; Retrospective Studies ; Seizures/diagnosis
Czasopismo naukowe
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