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Relevance of pathogenicity prediction tools in human RYR1 variants of unknown significance

Scientific reports, 2021-02, Vol.11 (1), p.3445-3445, Article 3445

2021

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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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Fascial tissue research in sports medicine: from molecules to tissue adaptation, injury and diagnostics: consensus statement

British journal of sports medicine, 2018-12, Vol.52 (23), p.1497-1497

2018

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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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Preclinical pharmacological in vitro investigations on low chloride conductance myotonia: effects of potassium regulation

Pflügers Archiv, 2020-10, Vol.472 (10), p.1481-1494

2020

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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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Correction to: Preclinical pharmacological in vitro investigations on low chloride conductance myotonia: effects of potassium regulation

Pflügers Archiv, 2020-10, Vol.472 (10), p.1533-1533

2020

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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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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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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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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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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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Possible Effect of Corticoids on Hemiplegic Attacks in Severe Hemiplegic Migraine

Pediatric neurology, 2013-10, Vol.49 (4), p.286-288

2013

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Rare missense variants in ATP1A2 in families with clustering of common forms of migraine

Human mutation, 2005-10, Vol.26 (4), p.315-321

2005

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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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Relevance of pathogenicity prediction tools in human RYR1 variants of unknown significance

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

Fascial tissue research in sports medicine: from molecules to tissue adaptation, injury and diagnostics: consensus statement

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

Preclinical pharmacological in vitro investigations on low chloride conductance myotonia: effects of potassium regulation

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

Correction to: Preclinical pharmacological in vitro investigations on low chloride conductance myotonia: effects of potassium regulation

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

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

PRRT2 Mutations are the major cause of benign familial infantile seizures

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

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

Myotonia in DNM2-related centronuclear myopathy

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

Possible Effect of Corticoids on Hemiplegic Attacks in Severe Hemiplegic Migraine

Rare missense variants in ATP1A2 in families with clustering of common forms of migraine

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

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