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Elevation of extracellular osmolarity improves signs of myotonia congenita in vitro: a preclinical animal study

The Journal of physiology, 2019-01, Vol.597 (1), p.225-235

2019

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Disease‐causing mutations C277R and C277Y modify gating of human ClC‐1 chloride channels in myotonia congenita

The Journal of physiology, 2012-08, Vol.590 (15), p.3449-3464

2012

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Genetics and pathogenesis of malignant hyperthermia

Muscle & nerve, 2000-01, Vol.23 (1), p.4-17

2000

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Genotype-Phenotype Correlation and Therapeutic Rationale in Hyperkalemic Periodic Paralysis

Neurotherapeutics, 2007-04, Vol.4 (2), p.216-224

2007

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Physiological mechanisms of lysophosphatidylcholine-induced de-ramification of murine microglia

The Journal of physiology, 2004-05, Vol.557 (1), p.105-120

2004

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Benign Familial Infantile Convulsions: Linkage to Chromosome 16p12‐q12 in 14 Families

Epilepsia (Copenhagen), 2004-06, Vol.45 (6), p.601-609

2004

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Myotonia in DNM2-related centronuclear myopathy

Journal of Neural Transmission, 2014-05, Vol.121 (5), p.549-553

2014

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Painful cramps and giant myotonic discharges in a family with the Nav1.4‐G1306A mutation

Muscle & nerve, 2015-10, Vol.52 (4), p.680-683

2015

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Expression in mammalian cells and electrophysiological characterization of two mutant Kv1.1 channels causing episodic ataxia type 1 (EA-1)

The European journal of neuroscience, 1999-07, Vol.11 (7), p.2403-2412

1999

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A sodium channel mutation causing epilepsy in man exhibits subtle defects in fast inactivation and activation in vitro

The Journal of physiology, 2000-12, Vol.529 (3), p.533-540

2000

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Mechanisms of cold sensitivity of paramyotonia congenita mutation R1448H and overlap syndrome mutation M1360V

The Journal of physiology, 2003-03, Vol.547 (3), p.691-698

2003

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Transient weakness and compound muscle action potential decrement in myotonia congenita

Muscle & nerve, 1998-10, Vol.21 (10), p.1334-1337

1998

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Enhanced inactivation and pH sensitivity of Na+ channel mutations causing hypokalaemic periodic paralysis type II

Brain (London, England : 1878), 2002-04, Vol.125 (Pt 4), p.835-843

2002

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Chloride conductance in mouse muscle is subject to post-transcriptional compensation of the functional Cl- channel 1 gene dosage

The Journal of physiology, 1997-10, Vol.504 (Pt 1), p.75-81

1997

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Rare KCNJ18 variants do not explain hypokalaemic periodic paralysis in 263 unrelated patients

Journal of neurology, neurosurgery and psychiatry, 2016-01, Vol.87 (1), p.49-52

2016

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Cooperative effect of S4–S5 loops in domains D3 and D4 on fast inactivation of the Na+ channel

The Journal of physiology, 2004-11, Vol.561 (1), p.39-51

2004

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Sodium (23Na) MRI detects elevated muscular sodium concentration in Duchenne muscular dystrophy

Neurology, 2011-12, Vol.77 (23), p.2017-2024

2011

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Progressive muscle atrophy with hypokalemic periodic paralysis and calcium channel mutation

Muscle & nerve, 2008-01, Vol.37 (1), p.120-124

2008

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Enhanced inactivation and acceleration of activation of the sodium channel associated with epilepsy in man

The European journal of neuroscience, 2001-06, Vol.13 (11), p.2171-2176

2001

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Strength and muscle structure preserved during long-term therapy in a patient with hypokalemic periodic paralysis (Cav1.1-R1239G)

Journal of neurology, 2019-07, Vol.266 (7), p.1623-1632

2019

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Early-onset familial hemiplegic migraine due to a novel SCN1A mutation

Cephalalgia, 2016-11, Vol.36 (13), p.1238-1247

2016

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Infantile-Onset Paroxysmal Movement Disorder and Episodic Ataxia Associated with a TBC1D24 Mutation

Neuropediatrics, 2019-10, Vol.50 (5), p.308-312

2019

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Membrane defects in paramyotonia congenita (eulenburg)

Muscle & nerve, 1987-09, Vol.10 (7), p.633-641

1987

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Neuromuscular transmission in the mdx mouse

Muscle & nerve, 1990-08, Vol.13 (8), p.742-749

1990

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Membrane excitability and excitation–contraction uncoupling in muscle fatigue

Neuromuscular disorders : NMD, 2012-12, Vol.22, p.S162-S167

2012

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Elevation of extracellular osmolarity improves signs of myotonia congenita in vitro: a preclinical animal study

Disease‐causing mutations C277R and C277Y modify gating of human ClC‐1 chloride channels in myotonia congenita

Genetics and pathogenesis of malignant hyperthermia

Genotype-Phenotype Correlation and Therapeutic Rationale in Hyperkalemic Periodic Paralysis

Physiological mechanisms of lysophosphatidylcholine-induced de-ramification of murine microglia

Benign Familial Infantile Convulsions: Linkage to Chromosome 16p12‐q12 in 14 Families

Myotonia in DNM2-related centronuclear myopathy

Painful cramps and giant myotonic discharges in a family with the Nav1.4‐G1306A mutation

Expression in mammalian cells and electrophysiological characterization of two mutant Kv1.1 channels causing episodic ataxia type 1 (EA-1)

A sodium channel mutation causing epilepsy in man exhibits subtle defects in fast inactivation and activation in vitro

Mechanisms of cold sensitivity of paramyotonia congenita mutation R1448H and overlap syndrome mutation M1360V

Transient weakness and compound muscle action potential decrement in myotonia congenita

Enhanced inactivation and pH sensitivity of Na+ channel mutations causing hypokalaemic periodic paralysis type II

Chloride conductance in mouse muscle is subject to post-transcriptional compensation of the functional Cl- channel 1 gene dosage

Rare KCNJ18 variants do not explain hypokalaemic periodic paralysis in 263 unrelated patients

Cooperative effect of S4–S5 loops in domains D3 and D4 on fast inactivation of the Na+ channel

Sodium (23Na) MRI detects elevated muscular sodium concentration in Duchenne muscular dystrophy

Progressive muscle atrophy with hypokalemic periodic paralysis and calcium channel mutation

Enhanced inactivation and acceleration of activation of the sodium channel associated with epilepsy in man

Strength and muscle structure preserved during long-term therapy in a patient with hypokalemic periodic paralysis (Cav1.1-R1239G)

Early-onset familial hemiplegic migraine due to a novel SCN1A mutation

Infantile-Onset Paroxysmal Movement Disorder and Episodic Ataxia Associated with a TBC1D24 Mutation

Membrane defects in paramyotonia congenita (eulenburg)

Neuromuscular transmission in the mdx mouse

Membrane excitability and excitation–contraction uncoupling in muscle fatigue

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