Dystonia: A novel sign of the Smith-Magenis syndrome - A three-case report.

Autor: Kunc L; Department of Neurology, 1st Faculty of Medicine and General University Hospital in Prague, Charles University, Prague, Czech Republic., Havránková P; Department of Neurology, 1st Faculty of Medicine and General University Hospital in Prague, Charles University, Prague, Czech Republic., Škorvánek M; Department of Neurology and Center for Rare Movement Disorders, Faculty of Medicine, P. J. Safarik University and University Hospital L. Pasteur, Kosice, Slovak Republic., Příhodová I; Department of Neurology, 1st Faculty of Medicine and General University Hospital in Prague, Charles University, Prague, Czech Republic., Poláková K; Department of Neurology, 1st Faculty of Medicine and General University Hospital in Prague, Charles University, Prague, Czech Republic., Nosková L; Department of Pediatrics and Inherited Metabolic Disorders, 1st Faculty of Medicine and General University Hospital in Prague, Charles University, Prague, Czech Republic., Tesařová M; Department of Pediatrics and Inherited Metabolic Disorders, 1st Faculty of Medicine and General University Hospital in Prague, Charles University, Prague, Czech Republic., Honzík T; Department of Pediatrics and Inherited Metabolic Disorders, 1st Faculty of Medicine and General University Hospital in Prague, Charles University, Prague, Czech Republic., Zech M; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.; Institute for Advanced Study, Technical University of Munich, Garching, Germany., Jech R; Department of Neurology, 1st Faculty of Medicine and General University Hospital in Prague, Charles University, Prague, Czech Republic.

Publikováno v: Clinical parkinsonism & related disorders [Clin Park Relat Disord] 2024 Aug 06; Vol. 11, pp. 100267. Date of Electronic Publication: 2024 Aug 06 (Print Publication: 2024).

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Increased burden of rare protein-truncating variants in constrained, brain-specific and synaptic genes in extremely impulsively violent males with antisocial personality disorder.

Autor: Mušálková D; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic., Přistoupilová A; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic., Jedličková I; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic., Hartmannová H; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic., Trešlová H; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic., Nosková L; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic., Hodaňová K; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic., Bittmanová P; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic., Stránecký V; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic., Jiřička V; Department of Psychology, Prison Service of the Czech Republic, Prague, Czech Republic.; Department of Psychiatry, Faculty of Medicine in Pilsen, Charles University, Pilsen, Czech Republic., Langmajerová M; Department of Psychiatry, Faculty of Medicine in Pilsen, Charles University, Pilsen, Czech Republic., Woodbury-Smith M; The Centre for Applied Genomics and Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Faculty of Medical Sciences, Biosciences Institute, Newcastle University, Newcastle upon Tyne, UK., Zarrei M; The Centre for Applied Genomics and Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada., Trost B; The Centre for Applied Genomics and Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada., Scherer SW; The Centre for Applied Genomics and Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Molecular Genetics and McLaughlin Centre, University of Toronto, Toronto, Ontario, Canada., Bleyer AJ; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic.; Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA., Vevera J; Department of Psychiatry, Faculty of Medicine in Pilsen, Charles University, Pilsen, Czech Republic.; Department of Psychiatry, University Hospital Pilsen, Pilsen, Czech Republic., Kmoch S; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic.; Department of Psychiatry, Faculty of Medicine in Pilsen, Charles University, Pilsen, Czech Republic.

Publikováno v: Genes, brain, and behavior [Genes Brain Behav] 2024 Feb; Vol. 23 (1), pp. e12882.

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ADAM22 ethnic-specific variant reducing binding of membrane-associated guanylate kinases causes focal epilepsy and behavioural disorder.

Autor: Nosková L; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, 1st Faculty of Medicine, Charles University in Prague, 128 08 Prague 2, Czech Republic., Fukata Y; Division of Membrane Physiology, Department of Molecular and Cellular Physiology, National Institute for Physiological Sciences, National Institutes of Natural Sciences, Okazaki 444-8787, Japan.; Department of Physiological Sciences, School of Life Science, SOKENDAI (The Graduate University for Advanced Studies), Okazaki 444-8585, Japan.; Division of Molecular and Cellular Pharmacology, Nagoya University Graduate School of Medicine, Nagoya 466-8550, Japan., Stránecký V; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, 1st Faculty of Medicine, Charles University in Prague, 128 08 Prague 2, Czech Republic., Šaligová J; Children's Faculty Hospital, Košice 040 11, Slovakia., Bodnárová O; Children's Faculty Hospital, Košice 040 11, Slovakia., Giertlová M; Medical Genetics Outpatient Service, Unilabs Slovakia Ltd, Košice 040 01, Slovakia.; Department of Paediatric and Adolescent Medicine, Faculty of Medicine, P.J. Šafárik University,Košice 040 01, Slovak Republic., Fukata M; Division of Membrane Physiology, Department of Molecular and Cellular Physiology, National Institute for Physiological Sciences, National Institutes of Natural Sciences, Okazaki 444-8787, Japan.; Department of Physiological Sciences, School of Life Science, SOKENDAI (The Graduate University for Advanced Studies), Okazaki 444-8585, Japan.; Division of Neuropharmacology, Nagoya University Graduate School of Medicine, Nagoya 466-8550, Japan., Kmoch S; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, 1st Faculty of Medicine, Charles University in Prague, 128 08 Prague 2, Czech Republic.

Publikováno v: Brain communications [Brain Commun] 2023 Oct 27; Vol. 5 (6), pp. fcad295. Date of Electronic Publication: 2023 Oct 27 (Print Publication: 2023).