Autor: "Fečíková, Anna" - OpacWWW

Skocz do pozycji: 1.

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.; Pokaż więcej
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

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Skocz do pozycji: 2.

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.; Pokaż więcej
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

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Szczegóły

Skocz do pozycji: 3.

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. .; Pokaż więcej
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

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Szczegóły

Skocz do pozycji: 4.

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.; Pokaż więcej
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

na półce

Pełny tekst Pełny tekst Szczegóły

Skocz do pozycji: 5.

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.; Pokaż więcej
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

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Skocz do pozycji: 6.

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.; Pokaż więcej
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

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Pełny tekst Pełny tekst Szczegóły

Skocz do pozycji: 7.

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.; Pokaż więcej
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 ; Exome Sequencing

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Szczegóły

Skocz do pozycji: 8.

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.; Pokaż więcej
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

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Skocz do pozycji: 9.

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.; Pokaż więcej
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

na półce

Szczegóły

Skocz do pozycji: 10.

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. .; Pokaż więcej
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 ; Exome Sequencing

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