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channelopathy
Publication
Class
Person
Publication
Programmes
publication
Extended spectrum of Ca(v)1.3 channelopathies
2023 |
Third Faculty of Medicine
publication
Channelopathies
2000 |
Faculty of Medicine in Pilsen
publication
Channelopathies in Neurology
Publication without faculty affiliation
publication
Neuromyelitis optica (Devic´s disease) - first demyelinating aquaporin channelopathy?
2010 |
First Faculty of Medicine
publication
Inherited arrhythmias
+1
2008 |
Faculty of Medicine in Hradec Králové
publication
Inherited arrhythmic syndromes in children
2020 |
Central Library of Charles University
publication
Electrophysiological characterization of a Ca(v)3.2 calcium channel missense variant associated with epilepsy and hearing loss
2023 |
First Faculty of Medicine, Third Faculty of Medicine
publication
The omega of TRPM7 channels in trigeminal neuralgia
2022 |
Third Faculty of Medicine
publication
Zimmermann-Laband syndrome in monozygotic twins with a mild neurobehavioral phenotype lacking gingival overgrowth-A case report of a novel KCNN3 gene variant
2022 |
Second Faculty of Medicine
publication
Pregnane-based steroids are novel positive NMDA receptor modulators that may compensate for the effect of loss-of-function disease-associated GRIN mutations
2022 |
First Faculty of Medicine
publication
Electrophysiological and computational analysis of Ca(v)3.2 channel variants associated with familial trigeminal neuralgia
2022 |
Third Faculty of Medicine
publication
Disease-associated nonsense and frame-shift variants resulting in the truncation of the GluN2A or GluN2B C-terminal domain decrease NMDAR surface expression and reduce potentiating effects of neurosteroids
2024 |
First Faculty of Medicine, Faculty of Science, Central Library of Charles University
publication
Secretory carrier-associated membrane protein 5 regulates cell-surface targeting of T-type calcium channels
2023 |
First Faculty of Medicine, Third Faculty of Medicine
publication
De novo SCN8A and inherited rare CACNA1H variants associated with severe developmental and epileptic encephalopathy
2021 |
First Faculty of Medicine, Third Faculty of Medicine
publication
Genetic causes of sudden infant death syndrome in the era of next generation sequencing. Review
2020 |
First Faculty of Medicine, Third Faculty of Medicine
publication
ESC working group on cardiac cellular electrophysiology position paper: relevance, opportunities, and limitations of experimental models for cardiac electrophysiology research
2021 |
Faculty of Medicine in Pilsen
publication
The role of genetic examination in the diagnosis of causes of circulatory arrest in a young patient without structural heart disease
2019 |
Second Faculty of Medicine
publication
Alternating hemiplegia of childhood: Metabolic studies in the largest European series of patients
2012 |
First Faculty of Medicine
publication
The clinical and genetic spectrum of catecholaminergic polymorphic ventricular tachycardia: findings from an international multicentre registry
2018 |
Publication without faculty affiliation
publication
Structural modeling and patch-clamp analysis of pain-related mutation TRPA1-N855S reveal inter-subunit salt bridges stabilizing the channel open state
2015 |
Faculty of Science, Faculty of Mathematics and Physics
publication
Catecholaminergic Polymorphic Ventricular Tachycardia in Children Analysis of Therapeutic Strategies and Outcomes From an International Multicenter Registry
2015 |
Publication without faculty affiliation