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Temperature dependence of erythromelalgia mutation L858F in sodium channel Nav1.7Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 ComparisonDefining potentially conserved RNA regulons of homologous zinc-finger RNA-binding proteinsMutations of SCN4A gene cause different diseases: 2 case reports and literature reviewIsolated eyelid closure myotonia in two families with sodium channel myotoniaNovel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis.The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment.Predominantly myalgic phenotype caused by the c.3466G>A p.A1156T mutation in SCN4A geneSize matters: Erythromelalgia mutation S241T in Nav1.7 alters channel gating.Recent advances in the pathogenesis and drug action in periodic paralyses and related channelopathies.Phenotypic variation of Val1589Met mutation in a four-generation Chinese pedigree with mild paramyotonia congenitia: case report.An interactive voice response diary for patients with non-dystrophic myotonia.Warm-up phenomenon in myotonia associated with the V445M sodium channel mutation.Mutation analysis in exons 22 and 24 of SCN4A gene in Iranian patients with non-dystrophic myotonia.Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.Epileptogenic channelopathies: experimental models of human pathologies.Prevalence study of genetically defined skeletal muscle channelopathies in England.Treatment of neuromuscular channelopathies: current concepts and future prospectsSkeletal muscle channelopathies: new insights into the periodic paralyses and nondystrophic myotonias.Voltage-gated sodium channels: biophysics, pharmacology, and related channelopathies.Diagnosis of skeletal muscle channelopathies.Skeletal muscle na channel disorders.Design of a specific activator for skeletal muscle sodium channels uncovers channel architecture.Hypokalemic periodic paralysis in a patient with acquired growth hormone deficiency.A Mixed Periodic Paralysis & Myotonia Mutant, P1158S, Imparts pH-Sensitivity in Skeletal Muscle Voltage-gated Sodium Channels.Gating Pore Currents in Sodium Channels
P2860
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P2860
description
2005 nî lūn-bûn
@nan
2005 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Human skeletal muscle sodium channelopathies
@ast
Human skeletal muscle sodium channelopathies
@en
Human skeletal muscle sodium channelopathies
@nl
type
label
Human skeletal muscle sodium channelopathies
@ast
Human skeletal muscle sodium channelopathies
@en
Human skeletal muscle sodium channelopathies
@nl
prefLabel
Human skeletal muscle sodium channelopathies
@ast
Human skeletal muscle sodium channelopathies
@en
Human skeletal muscle sodium channelopathies
@nl
P2093
P1476
Human skeletal muscle sodium channelopathies
@en
P2093
P2888
P304
P356
10.1007/S10072-005-0461-X
P407
P577
2005-10-01T00:00:00Z