Intermittent muscular weakness, extrasystoles, and multiple developmental anomalies. A new syndrome?
about
Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome)Golgi export of the Kir2.1 channel is driven by a trafficking signal located within its tertiary structureMutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2.Andersen syndrome autosomal dominant in three generations.Congenital long QT syndromes: clinical features, molecular genetics and genetic testing.The Twiddling AndersenCardiac characteristics and long-term outcome in Andersen-Tawil syndrome patients related to KCNJ2 mutation.Novel mutation in the KCNJ2 gene is associated with a malignant arrhythmic phenotype of Andersen-Tawil syndrome.Electrocardiogram in Andersen-Tawil syndrome. New electrocardiographic criteria for diagnosis of type-1 Andersen-Tawil syndrome.Recurrent syncope in the Andersen Tawil syndrome - Cardiac or neurological?Andersen-Tawil syndrome: Clinical presentation and predictors of symptomatic arrhythmias - Possible role of polymorphisms K897T in KCNH2 and H558R in SCN5A gene.Neurological channelopathies: diagnosis and therapy in the new millennium.Monogenic atrial fibrillation as pathophysiological paradigms.Biophysical and molecular characterization of a novel de novo KCNJ2 mutation associated with Andersen-Tawil syndrome and catecholaminergic polymorphic ventricular tachycardia mimicryManagement and treatment of Andersen-Tawil syndrome (ATS).Cellular basis for electrocardiographic and arrhythmic manifestations of Andersen-Tawil syndrome (LQT7).Primary periodic paralyses.Andersen-Tawil syndromeRecent advances in the pathogenesis and drug action in periodic paralyses and related channelopathies.Cardiac complications of childhood myopathies.Upregulation of the inwardly rectifying potassium channel Kir2.1 (KCNJ2) modulates multidrug resistance of small-cell lung cancer under the regulation of miR-7 and the Ras/MAPK pathway.KCNJ2 mutations in arrhythmia patients referred for LQT testing: a mutation T305A with novel effect on rectification properties.An inwardly rectifying K+ channel is required for patterningThe primary periodic paralyses: diagnosis, pathogenesis and treatment.Cardiac ion channelopathies and the sudden infant death syndromePharmacological approach to the treatment of long and short QT syndromesElectrical heart disease: Genetic and molecular basis of cardiac arrhythmias in normal structural hearts.Functional and clinical characterization of a mutation in KCNJ2 associated with Andersen-Tawil syndromeKCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes.Concomitant presentation of Anderson-Tawil syndrome and myasthenia gravis in an adult patient: A case report.Resuscitated sudden cardiac death in Andersen-Tawil syndrome.Genotype- and phenotype-guided management of congenital long QT syndrome.Cardiac Channelopathies and Sudden Death: Recent Clinical and Genetic AdvancesDiagnosis of skeletal muscle channelopathies.Congenital Long QT syndrome and torsade de pointes.An andersen-Tawil syndrome mutation in Kir2.1 (V302M) alters the G-loop cytoplasmic K+ conduction pathway.A digital atlas of ion channel expression patterns in the two-week-old rat brain.In vivo and in vitro functional characterization of Andersen's syndrome mutations.Defective potassium channel Kir2.1 trafficking underlies Andersen-Tawil syndrome.Flecainide ameliorates arrhythmogenicity through NCX flux in Andersen-Tawil syndrome-iPS cell-derived cardiomyocytes.
P2860
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P2860
Intermittent muscular weakness, extrasystoles, and multiple developmental anomalies. A new syndrome?
description
1971 nî lūn-bûn
@nan
1971 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1971 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1971年の論文
@ja
1971年論文
@yue
1971年論文
@zh-hant
1971年論文
@zh-hk
1971年論文
@zh-mo
1971年論文
@zh-tw
1971年论文
@wuu
name
Intermittent muscular weakness ...... tal anomalies. A new syndrome?
@ast
Intermittent muscular weakness ...... tal anomalies. A new syndrome?
@en
Intermittent muscular weakness ...... tal anomalies. A new syndrome?
@nl
type
label
Intermittent muscular weakness ...... tal anomalies. A new syndrome?
@ast
Intermittent muscular weakness ...... tal anomalies. A new syndrome?
@en
Intermittent muscular weakness ...... tal anomalies. A new syndrome?
@nl
prefLabel
Intermittent muscular weakness ...... tal anomalies. A new syndrome?
@ast
Intermittent muscular weakness ...... tal anomalies. A new syndrome?
@en
Intermittent muscular weakness ...... tal anomalies. A new syndrome?
@nl
P2093
P1476
Intermittent muscular weakness ...... tal anomalies. A new syndrome?
@en
P2093
Andersen ED
Krasilnikoff PA
P304
P356
10.1111/J.1651-2227.1971.TB06990.X
P577
1971-09-01T00:00:00Z