about
Muscle channelopathies and critical points in functional and genetic studies.Periodic paralysis mutation MiRP2-R83H in controls: Interpretations and general recommendationRare missense variants in ATP1A2 in families with clustering of common forms of migraineA G301R Na+/K+ -ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signsGenotype-phenotype correlation and therapeutic rationale in hyperkalemic periodic paralysisIn vivo 35Cl MR imaging in humans: a feasibility study.Sight: automating genomic data-mining without programming skills.Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect.Periodic paralysis: understanding channelopathies.Skeletal muscle channelopathies.The impact of splice isoforms on voltage-gated calcium channel alpha1 subunits.Pathophysiological role of omega pore current in channelopathiesComplications of anaesthesia in neuromuscular disorders.Ion channel defects in idiopathic epilepsies.Divalent cation-responsive myotonia and muscle paralysis in skeletal muscle sodium channelopathy.SCN4A pore mutation pathogenetically contributes to autosomal dominant essential tremor and may increase susceptibility to epilepsy.The impact of permanent muscle weakness on quality of life in periodic paralysis: a survey of 66 patientsRare KCNJ18 variants do not explain hypokalaemic periodic paralysis in 263 unrelated patients.Ion channels and ion transporters of the transverse tubular system of skeletal muscle.Paroxysmal muscle weakness: the familial periodic paralyses.K+-dependent paradoxical membrane depolarization and Na+ overload, major and reversible contributors to weakness by ion channel leaks.A CaV1.1 Ca2+ channel splice variant with high conductance and voltage-sensitivity alters EC coupling in developing skeletal muscle.Transient compartment-like syndrome and normokalaemic periodic paralysis due to a Ca(v)1.1 mutation.Early-onset familial hemiplegic migraine due to a novel SCN1A mutation.NaV1.4 mutations cause hypokalaemic periodic paralysis by disrupting IIIS4 movement during recovery.Sodium channelopathies of skeletal muscle result from gain or loss of function.Hereditary channelopathies in neurology.Hyperkalemic periodic paralysis and permanent weakness: 3-T MR imaging depicts intracellular 23Na overload--initial results.High prevalence of rare ryanodine receptor type 1 variants in patients suffering from aneurysmatic subarachnoid hemorrhage: A pilot study.7-T (35)Cl and (23)Na MR Imaging for Detection of Mutation-dependent Alterations in Muscular Edema and Fat Fraction with Sodium and Chloride Concentrations in Muscular Periodic Paralyses.A gating model for wildtype and R1448H Nav1.4 channels in paramyotonia.Gating of the HypoPP-1 mutations: I. Mutant-specific effects and cooperativity.Gating of the HypoPP-1 mutations: II. Effects of a calcium-channel agonist BayK 8644.Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.Possible effect of corticoids on hemiplegic attacks in severe hemiplegic migraine.
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P50
description
onderzoeker
@nl
name
Karin Jurkat-Rott
@ast
Karin Jurkat-Rott
@en
Karin Jurkat-Rott
@es
Karin Jurkat-Rott
@sl
type
label
Karin Jurkat-Rott
@ast
Karin Jurkat-Rott
@en
Karin Jurkat-Rott
@es
Karin Jurkat-Rott
@sl
prefLabel
Karin Jurkat-Rott
@ast
Karin Jurkat-Rott
@en
Karin Jurkat-Rott
@es
Karin Jurkat-Rott
@sl
P1006
P214
P244
P1006
P106
P21
P213
0000 0000 3729 2706
P214
P244
nb99184611
P31
P569
1950-01-01T00:00:00Z
P735
P7859
lccn-nb99184611