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


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.
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:
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.
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:
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. .
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:
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.
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
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.
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:
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.
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:
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.
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:
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.
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:
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: .
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

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