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Wyszukujesz frazę ""Jech, Robert"" wg kryterium: Autor

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Wyświetlanie 1-20 z 59
Tytuł:
Trisomy X syndrome with dystonia and a pathogenic SATB1 variant.
Autorzy:
Necpál J; Department of Neurology, Zvolen Hospital, Zvolen, Slovakia. .
Zech M; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institute of Human Genetics, Technical University of Munich, 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, 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 University Hospital in Prague, 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] 2021 Sep; Vol. 42 (9), pp. 3883-3884. Date of Electronic Publication: 2021 May 24.
Typ publikacji:
Letter
MeSH Terms:
Dystonia*/genetics
Matrix Attachment Region Binding Proteins*/genetics
Sex Chromosome Disorders of Sex Development*
Chromosomes, Human, X ; Humans ; Sex Chromosome Aberrations ; Trisomy/genetics
SCR Disease Name:
Triple X syndrome
Opinia redakcyjna
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Variant recurrence confirms the existence of a FBXO31-related spastic-dystonic cerebral palsy syndrome.
Autorzy:
Dzinovic I; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.
Škorvánek M; Department of Neurology, P.J. Safarik University, Kosice, Slovak Republic.; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic.
Pavelekova P; Department of Neurology, P.J. Safarik University, Kosice, Slovak Republic.; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic.
Zhao C; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.
Keren B; Department of Genetics, Pitié-Salpêtrière Hospital, APHP.Sorbonne Université, Paris, France.
Whalen S; UF de Génétique Clinique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, APHP.Sorbonne Université, Hôpital Armand Trousseau, Paris, France.
Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, Arizona, USA.
Chih Jin S; Department of Genetics, Washington University School of Medicine, St Louis, Missouri, USA.
Kruer MC; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, Arizona, USA.
Jech R; Department of Neurology, Charles University, 1st Faculty of Medicine, General University Hospital, Prague, Czech Republic.
Winkelmann J; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institute of Human Genetics, Technical University of Munich, Munich, Germany.; Lehrstuhl für Neurogenetik, Technische Universität München, Munich, Germany.; Munich Cluster for Systems Neurology, SyNergy, Munich, Germany.
Zech M; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institute of Human Genetics, Technical University of Munich, Munich, Germany.
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Źródło:
Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2021 Apr; Vol. 8 (4), pp. 951-955. Date of Electronic Publication: 2021 Mar 06.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Cerebral Palsy/*genetics
Dystonia/*genetics
F-Box Proteins/*genetics
Muscle Spasticity/*genetics
Tumor Suppressor Proteins/*genetics
Cerebral Palsy/complications ; Cerebral Palsy/physiopathology ; Child ; Dystonia/etiology ; Dystonia/physiopathology ; Humans ; Male ; Muscle Spasticity/etiology ; Muscle Spasticity/physiopathology ; Syndrome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
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. jech@cesnet.cz.
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
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Functional Imaging of Deep Brain Stimulation: fMRI, SPECT, and PET
Autorzy:
Jech, Robert
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Źródło:
Deep Brain Stimulation in Neurological and Psychiatric Disorders. :179-201
Degree:
MD
MD, PhD
Książka elektroniczna
Szczegóły
Wyświetlanie 1-20 z 59

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