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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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Strain hardening of fascia: Static stretching of dense fibrous connective tissues can induce a temporary stiffness increase accompanied by enhanced matrix hydration

Journal of bodywork and movement therapies, 2012-01, Vol.16 (1), p.94-100

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

Pflügers Archiv, 2010-07, Vol.460 (2), p.239-248

2010

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The impact of splice isoforms on voltage‐gated calcium channel α1 subunits

The Journal of physiology, 2004-02, Vol.554 (3), p.609-619

2004

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Altered stress stimulation of inward rectifier potassium channels in Andersen‐Tawil syndrome

The FASEB journal, 2012-02, Vol.26 (2), p.513-522

2012

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Nav1.4 mutations cause hypokalaemic periodic paralysis by disrupting IIIS4 movement during recovery

Brain (London, England : 1878), 2014-04, Vol.137 (Pt 4), p.998-1008

2014

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GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak

The Journal of clinical investigation, 2008-06, Vol.118 (6), p.2157-2168

2008

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Voltage-Gated Ion Channels and Hereditary Disease

Physiological reviews, 1999-10, Vol.79 (4), p.1317-1372

1999

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

Proceedings of the National Academy of Sciences - PNAS, 2009-03, Vol.106 (10), p.4036-4041

2009

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Hypermetabolism in B–lymphocytes from malignant hyperthermia susceptible individuals

Scientific reports, 2016-09, Vol.6 (1), p.33372, Article 33372

2016

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NaV1.4 DI-S4 periodic paralysis mutation R222W enhances inactivation and promotes leak current to attenuate action potentials and depolarize muscle fibers

Scientific reports, 2018-07, Vol.8 (1), p.1-13, Article 10372

2018

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Paxilline Prevents the Onset of Myotonic Stiffness in Pharmacologically Induced Myotonia: A Preclinical Investigation

Frontiers in physiology, 2020-11, Vol.11, p.533946

2020

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3D radial projection technique with ultrashort echo times for sodium MRI: Clinical applications in human brain and skeletal muscle

Magnetic resonance in medicine, 2007-01, Vol.57 (1), p.74-81

2007

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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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Genotype-Phenotype Correlation and Therapeutic Rationale in Hyperkalemic Periodic Paralysis

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

2007

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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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Selective blockage of Kv1.3 and Kv3.1 channels increases neural progenitor cell proliferation

Journal of neurochemistry, 2006-10, Vol.99 (2), p.426-437

2006

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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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Ion channel defects in idiopathic epilepsies

Current pharmaceutical design, 2005-08, Vol.11 (21), p.2737-2752

2005

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Voltage-Sensor Sodium Channel Mutations Cause Hypokalemic Periodic Paralysis Type 2 by Enhanced Inactivation and Reduced Current

Proceedings of the National Academy of Sciences - PNAS, 2000-08, Vol.97 (17), p.9549-9554

2000

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Functional characterization of ryanodine receptor (RYR1) sequence variants using a metabolic assay in immortalized B-lymphocytes

Human mutation, 2009-04, Vol.30 (4), p.E575-E590

2009

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Domain III S4 in closed-state fast inactivation: Insights from a periodic paralysis mutation

Channels (Austin, Tex.), 2014-09, Vol.8 (5), p.467-471

2014

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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

Strain hardening of fascia: Static stretching of dense fibrous connective tissues can induce a temporary stiffness increase accompanied by enhanced matrix hydration

Genetics and pathogenesis of malignant hyperthermia

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

The impact of splice isoforms on voltage‐gated calcium channel α1 subunits

Altered stress stimulation of inward rectifier potassium channels in Andersen‐Tawil syndrome

Nav1.4 mutations cause hypokalaemic periodic paralysis by disrupting IIIS4 movement during recovery

GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak

Voltage-Gated Ion Channels and Hereditary Disease

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

Hypermetabolism in B–lymphocytes from malignant hyperthermia susceptible individuals

NaV1.4 DI-S4 periodic paralysis mutation R222W enhances inactivation and promotes leak current to attenuate action potentials and depolarize muscle fibers

Paxilline Prevents the Onset of Myotonic Stiffness in Pharmacologically Induced Myotonia: A Preclinical Investigation

3D radial projection technique with ultrashort echo times for sodium MRI: Clinical applications in human brain and skeletal muscle

PRRT2 Mutations are the major cause of benign familial infantile seizures

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

Genotype-Phenotype Correlation and Therapeutic Rationale in Hyperkalemic Periodic Paralysis

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

Selective blockage of Kv1.3 and Kv3.1 channels increases neural progenitor cell proliferation

Myotonia in DNM2-related centronuclear myopathy

Ion channel defects in idiopathic epilepsies

Voltage-Sensor Sodium Channel Mutations Cause Hypokalemic Periodic Paralysis Type 2 by Enhanced Inactivation and Reduced Current

Functional characterization of ryanodine receptor (RYR1) sequence variants using a metabolic assay in immortalized B-lymphocytes

Domain III S4 in closed-state fast inactivation: Insights from a periodic paralysis mutation

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