Correlating phenotype and genotype in the periodic paralyses
about
Deep resequencing of the voltage-gated potassium channel subunit KCNE3 gene in chronic tinnitusPractical aspects in the management of hypokalemic periodic paralysisMyotonic disorders: A review articleGenetic neurological channelopathies: molecular genetics and clinical phenotypes.Channelopathies of skeletal muscle excitabilityHypokalemic sensory overstimulationThe Genotype and Clinical Phenotype of Korean Patients with Familial Hypokalemic Periodic ParalysisTargeted mutation of mouse skeletal muscle sodium channel produces myotonia and potassium-sensitive weakness.Refined exercise testing can aid DNA-based diagnosis in muscle channelopathiesExploring the utility of whole-exome sequencing as a diagnostic tool in a child with atypical episodic muscle weaknessDDESC: Dragon database for exploration of sodium channels in human.The role of CACNA1S in predisposition to malignant hyperthermiaThe non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment.Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysisInherited disorders of voltage-gated sodium channels.An atypical phenotype of hypokalemic periodic paralysis caused by a mutation in the sodium channel gene SCN4A.Muscle channelopathies: the nondystrophic myotonias and periodic paralyses.Primary periodic paralyses.Mechanisms of a human skeletal myotonia produced by mutation in the C-terminus of NaV1.4: is Ca2+ regulation defective?Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene.Sodium and chloride channelopathies with myositis: coincidence or connection?Hypokalemic periodic paralysis; two different genes responsible for similar clinical manifestations.An unexpected cause of proximal myopathyWhole-Body Muscle MRI in Patients with Hyperkalemic Periodic Paralysis Carrying the SCN4A Mutation T704M: Evidence for Chronic Progressive Myopathy with Selective Muscle InvolvementThe primary periodic paralyses: diagnosis, pathogenesis and treatment.Understanding the physiology of the asymptomatic diaphragm of the M1592V hyperkalemic periodic paralysis mouse.Physiological basis for muscle stiffness and weakness in a knock-in M1592V mouse model of hyperkalemic periodic paralysisHypokalemic periodic paralysis: a model for a clinical and research approach to a rare disorder.Randomized, placebo-controlled trials of dichlorphenamide in periodic paralysis.Prevalence study of genetically defined skeletal muscle channelopathies in England.Imaging alterations in skeletal muscle channelopathies: a study in 15 patientsNon-dystrophic myotonia: prospective study of objective and patient reported outcomes.Differential diagnosis of myotonic disorders.Muscle channelopathies: does the predicted channel gating pore offer new treatment insights for hypokalaemic periodic paralysis?The diagnosis and treatment of myotonic disorders.Diagnosis of skeletal muscle channelopathies.Phenotypic heterogeneity in skeletal muscle sodium channelopathies: A case report and literature review.Cardiac arrhythmias in hypokalemic periodic paralysis: Hypokalemia as only cause?Skeletal muscle na channel disorders.Pharmacogenetics and pathophysiology of CACNA1S mutations in malignant hyperthermia.
P2860
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P2860
Correlating phenotype and genotype in the periodic paralyses
description
2004 nî lūn-bûn
@nan
2004 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年学术文章
@wuu
2004年学术文章
@zh-cn
2004年学术文章
@zh-hans
2004年学术文章
@zh-my
2004年学术文章
@zh-sg
2004年學術文章
@yue
name
Correlating phenotype and genotype in the periodic paralyses
@ast
Correlating phenotype and genotype in the periodic paralyses
@en
Correlating phenotype and genotype in the periodic paralyses
@nl
type
label
Correlating phenotype and genotype in the periodic paralyses
@ast
Correlating phenotype and genotype in the periodic paralyses
@en
Correlating phenotype and genotype in the periodic paralyses
@nl
prefLabel
Correlating phenotype and genotype in the periodic paralyses
@ast
Correlating phenotype and genotype in the periodic paralyses
@en
Correlating phenotype and genotype in the periodic paralyses
@nl
P2093
P1433
P1476
Correlating phenotype and genotype in the periodic paralyses
@en
P2093
C Angelini
H A Miller
H Kwiecinski
J R Mendell
L J Ptácek
L P W Ranum
M C Dalakas
M R Dias da Silva
P304
P356
10.1212/01.WNL.0000143383.91137.00
P407
P577
2004-11-09T00:00:00Z