Pathomechanisms in channelopathies of skeletal muscle and brain
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The hitchhiker's guide to the voltage-gated sodium channel galaxyOmega pore, an alternative ion channel permeation pathway involved in the development of several channelopathiesTowards a Unified Theory of Calmodulin Regulation (Calmodulation) of Voltage-Gated Calcium and Sodium ChannelsChannelopathies of skeletal muscle excitabilityProfiling neuronal ion channelopathies with non-invasive brain imaging and dynamic causal models: Case studies of single gene mutationsTargeted mutation of mouse skeletal muscle sodium channel produces myotonia and potassium-sensitive weakness.GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak.A mutation in a rare type of intron in a sodium-channel gene results in aberrant splicing and causes myotonia.Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis.The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment.Targeting voltage sensors in sodium channels with spider toxins.Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysisCold-induced defects of sodium channel gating in atypical periodic paralysis plus myotonia.Molecular surface of JZTX-V (β-Theraphotoxin-Cj2a) interacting with voltage-gated sodium channel subtype NaV1.4.Disrupted coupling of gating charge displacement to Na+ current activation for DIIS4 mutations in hypokalemic periodic paralysisIon permeation and block of the gating pore in the voltage sensor of NaV1.4 channels with hypokalemic periodic paralysis mutationsEvidence for functional diversity between the voltage-gated proton channel Hv1 and its closest related protein HVRP1.Characterization of Atp1a3 mutant mice as a model of rapid-onset dystonia with parkinsonism.Muscle channelopathies: the nondystrophic myotonias and periodic paralyses.Leaky sodium channels from voltage sensor mutations in periodic paralysis, but not paramyotoniaThe Na conductance in the sarcolemma and the transverse tubular system membranes of mammalian skeletal muscle fibers.A sodium channel knockin mutant (NaV1.4-R669H) mouse model of hypokalemic periodic paralysis.Molecular dynamics and mutational analysis of a channelopathy mutation in the IIS6 helix of Ca V 1.2.A Na+ channel mutation linked to hypokalemic periodic paralysis exposes a proton-selective gating pore.Understanding the physiology of the asymptomatic diaphragm of the M1592V hyperkalemic periodic paralysis mouse.Mutation I136V alters electrophysiological properties of the Na(v)1.7 channel in a family with onset of erythromelalgia in the second decadeA calcium channel mutant mouse model of hypokalemic periodic paralysisStress, caffeine and ethanol trigger transient neurological dysfunction through shared mechanisms in a mouse calcium channelopathyA recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis.Physiological basis for muscle stiffness and weakness in a knock-in M1592V mouse model of hyperkalemic periodic paralysisChannel, neuronal and clinical function in sodium channelopathies: from genotype to phenotype.Physiologic principles underlying ion channelopathies.Challenges in the design and conduct of therapeutic trials in channel disorders.Hypokalemic periodic paralysis: a model for a clinical and research approach to a rare disorder.S1-S3 counter charges in the voltage sensor module of a mammalian sodium channel regulate fast inactivation.Gene therapy of Cav1.2 channel with VIP and VIP receptor agonists and antagonists: a novel approach to designing promotility and antimotility agentsGating pore currents in DIIS4 mutations of NaV1.4 associated with periodic paralysis: saturation of ion flux and implications for disease pathogenesisA review of potassium channels in bipolar disorder.Non-dystrophic myotonia: prospective study of objective and patient reported outcomes.Deconstructing voltage sensor function and pharmacology in sodium channels.
P2860
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P2860
Pathomechanisms in channelopathies of skeletal muscle and brain
description
2006 nî lūn-bûn
@nan
2006 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Pathomechanisms in channelopathies of skeletal muscle and brain
@ast
Pathomechanisms in channelopathies of skeletal muscle and brain
@en
Pathomechanisms in channelopathies of skeletal muscle and brain
@nl
type
label
Pathomechanisms in channelopathies of skeletal muscle and brain
@ast
Pathomechanisms in channelopathies of skeletal muscle and brain
@en
Pathomechanisms in channelopathies of skeletal muscle and brain
@nl
altLabel
PATHOMECHANISMS IN CHANNELOPATHIES OF SKELETAL MUSCLE AND BRAIN
@en
prefLabel
Pathomechanisms in channelopathies of skeletal muscle and brain
@ast
Pathomechanisms in channelopathies of skeletal muscle and brain
@en
Pathomechanisms in channelopathies of skeletal muscle and brain
@nl
P1476
Pathomechanisms in channelopathies of skeletal muscle and brain
@en
P2093
Stephen C Cannon
Stephen C. Cannon
P304
P356
10.1146/ANNUREV.NEURO.29.051605.112815
P407
P50
P577
2006-01-01T00:00:00Z