Novel insights into the pathomechanisms of skeletal muscle channelopathies (Q37956141)

25 August 2017

title

Novel insights into the pathomechanisms of skeletal muscle channelopathies (English)

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25 August 2017

James A Burge

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25 August 2017

Michael G Hanna

series ordinal

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25 August 2017

publication date

1 February 2012

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Current Neurology and Neuroscience Reports

25 August 2017

published in

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25 August 2017

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25 August 2017

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25 August 2017

page(s)

62-69

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THE AFTER-POTENTIAL THAT FOLLOWS TRAINS OF IMPULSES IN FROG MUSCLE FIBERS.

25 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS11910-011-0238-3

Sodium channelopathies of skeletal muscle result from gain or loss of function

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-011-0238-3

Na+,K+-pump stimulation improves contractility in isolated muscles of mice with hyperkalemic periodic paralysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-011-0238-3

Skeletal muscle channelopathies: nondystrophic myotonias and periodic paralysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-011-0238-3

K+-dependent paradoxical membrane depolarization and Na+ overload, major and reversible contributors to weakness by ion channel leaks

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-011-0238-3

Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-011-0238-3

Channelopathies in Cav1.1, Cav1.3, and Cav1.4 voltage-gated L-type Ca2+ channels

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-011-0238-3

Effects of chloride transport on bistable behaviour of the membrane potential in mouse skeletal muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-011-0238-3

Paradoxical depolarization of BA2+- treated muscle exposed to low extracellular K+: insights into resting potential abnormalities in hypokalemic paralysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-011-0238-3

Severe neonatal episodic laryngospasm due to de novo SCN4A mutations: a new treatable disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-011-0238-3

Human voltage-gated sodium channel mutations that cause inherited neuronal and muscle channelopathies increase resurgent sodium currents

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-011-0238-3

Sodium channels gone wild: resurgent current from neuronal and muscle channelopathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-011-0238-3

Dominance and homozygosity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-011-0238-3

The molecular basis of genetic dominance

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-011-0238-3

Leaky sodium channels from voltage sensor mutations in periodic paralysis, but not paramyotonia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-011-0238-3

INa and IKir are reduced in Type 1 hypokalemic and thyrotoxic periodic paralysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-011-0238-3

Kir 2.1 channelopathies: the Andersen-Tawil syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-011-0238-3

A novel neuropsychiatric phenotype of KCNJ2 mutation in one Taiwanese family with Andersen-Tawil syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-011-0238-3

Biophysical and molecular characterization of a novel de novo KCNJ2 mutation associated with Andersen-Tawil syndrome and catecholaminergic polymorphic ventricular tachycardia mimicry

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-011-0238-3

Novel de novo mutation in the KCNJ2 gene in a patient with Andersen-Tawil syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-011-0238-3

A novel KCNJ2 nonsense mutation, S369X, impedes trafficking and causes a limited form of Andersen-Tawil syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-011-0238-3

Mutations in potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-011-0238-3

Kir2.6 regulates the surface expression of Kir2.x inward rectifier potassium channels

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-011-0238-3

Fatigue-inducing stimulation resolves myotonia in a drug-induced model

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-011-0238-3

Chloride currents from the transverse tubular system in adult mammalian skeletal muscle fibers

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-011-0238-3

Sarcolemmal-restricted localization of functional ClC-1 channels in mouse skeletal muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-011-0238-3

Chloride channels take center stage in a muscular drama

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-011-0238-3

Relaxing messages from the sarcolemma

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-011-0238-3

Propagation in the transverse tubular system and voltage dependence of calcium release in normal and mdx mouse muscle fibres

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-011-0238-3

Optical imaging and functional characterization of the transverse tubular system of mammalian muscle fibers using the potentiometric indicator di-8-ANEPPS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-011-0238-3

Phenotypic variability in myotonia congenita

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-011-0238-3

Involvement of helices at the dimer interface in ClC-1 common gating

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-011-0238-3

Pathomechanisms in channelopathies of skeletal muscle and brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-011-0238-3

High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-011-0238-3

Comparison of regulated passive membrane conductance in action potential-firing fast- and slow-twitch muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-011-0238-3

Regulation of ClC-1 and KATP channels in action potential-firing fast-twitch muscle fibers

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-011-0238-3

Ion permeation and block of the gating pore in the voltage sensor of NaV1.4 channels with hypokalemic periodic paralysis mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-011-0238-3

Mechanisms underlying a life-threatening skeletal muscle Na+ channel disorder

21 January 2018

1 reference

12 December 2020

Recent advances in the pathogenesis and drug action in periodic paralyses and related channelopathies

1 reference

12 December 2020

Genetic variability in the myostatin gene does not explain the muscle hypertrophy and clinical penetrance in myotonia congenita

1 reference

12 December 2020

Andersen cardiodysrhythmic periodic paralysis with KCNJ2 mutations: a novel mutation in the pore selectivity filter residue

1 reference

12 December 2020

Myotonia congenita and myotonic dystrophy in the same family: coexistence of a CLCN1 mutation and expansion in the CNBP (ZNF9) gene.

1 reference

12 December 2020

VOLTAGE SENSOR CHARGE LOSS ACCOUNTS FOR MOST CASES OF HYPOKALEMIC PERIODIC PARALYSIS

1 reference

12 December 2020

Identification and functional characterization of Kir2.6 mutations associated with non-familial hypokalemic periodic paralysis.

1 reference

12 December 2020

A CLCN1 mutation in dominant myotonia congenita impairs the increment of chloride conductance during repetitive depolarization

1 reference

12 December 2020

Stridor as a neonatal presentation of skeletal muscle sodium channelopathy

1 reference

12 December 2020

Homozygosity for dominant mutations increases severity of muscle channelopathies

1 reference

12 December 2020

On the repetitive discharge in myotonic muscle fibres

1 reference

12 December 2020

Role of innervation, excitability, and myogenic factors in the expression of the muscular chloride channel ClC-1. A study on normal and myotonic muscle

1 reference

12 December 2020

A mutation in a rare type of intron in a sodium-channel gene results in aberrant splicing and causes myotonia

1 reference

12 December 2020

10.1007/S11910-011-0238-3

Identifiers

DOI

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25 August 2017

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