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Molecular Analysis of a Congenital Myasthenic Syndrome Due to a Pathogenic Variant Affecting the C-Terminus of ColQ

International journal of molecular sciences, 2023-11, Vol.24 (22), p.16217

2023

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New mutation in the β1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani–Lenz syndrome

Scientific reports, 2023-08, Vol.13 (1), p.14054-14054, Article 14054

2023

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Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis

American journal of human genetics, 2015-10, Vol.97 (4), p.616-620

2015

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Moderate phenotype of a congenital myasthenic syndrome type 19 caused by mutation of the COL13A1 gene: a case report

Journal of medical case reports, 2022-03, Vol.16 (1), p.134-134, Article 134

2022

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Electromyography guides toward subgroups of mutations in muscle channelopathies

Annals of neurology, 2004-11, Vol.56 (5), p.650-661

2004

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Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care

International journal of molecular sciences, 2022-08, Vol.23 (15), p.8506

2022

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Case Report: A Novel AChR Epsilon Variant Causing a Clinically Discordant Salbutamol Responsive Congenital Myasthenic Syndrome in Two Egyptian Siblings

Frontiers in neurology, 2022-06, Vol.13

2022

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Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison

Frontiers in pharmacology, 2016-01, Vol.6, p.314-314

2016

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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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Cold extends electromyography distinction between ion channel mutations causing myotonia

Annals of neurology, 2006-09, Vol.60 (3), p.356-365

2006

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Cold-induced disruption of Na+ channel slow inactivation underlies paralysis in highly thermosensitive paramyotonia

The Journal of physiology, 2009-04, Vol.587 (8), p.1705-1714

2009

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Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians

Neuromuscular disorders : NMD, 2009-05, Vol.19 (5), p.330-334

2009

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Comparative efficacy of repetitive nerve stimulation, exercise, and cold in differentiating myotonic disorders

Muscle & nerve, 2007-11, Vol.36 (5), p.643-650

2007

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Severe neonatal non‐dystrophic myotonia secondary to a novel mutation of the voltage‐gated sodium channel (SCN4A) gene

American journal of medical genetics. Part A, 2008-02, Vol.146A (3), p.380-383

2008

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Dosage Effect of a Dominant CLCN1 Mutation: A Novel Syndrome

Journal of child neurology, 2008-02, Vol.23 (2), p.163-166

2008

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Functional characterization and cold sensitivity of T1313A, a new mutation of the skeletal muscle sodium channel causing paramyotonia congenita in humans

The Journal of physiology, 2004-02, Vol.554 (3), p.635-647

2004

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Moderate phenotype of a congenital myasthenic syndrome type 19 in an Algerian patient

Journal of the neurological sciences, 2021-10, Vol.429, p.118280, Article 118280

2021

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In vivo and in vitro functional characterization of Andersen's syndrome mutations

The Journal of physiology, 2005-06, Vol.565 (3), p.731-741

2005

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A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis

Neurology, 2016-01, Vol.86 (2), p.161

2016

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Diagnosis and outcome of SCN4A-related severe neonatal episodic laryngospasm (SNEL): 2 new cases

Pediatrics (Evanston), 2013-09, Vol.132 (3), p.e784

2013

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Prolonged attacks of weakness with hypokalemia in SCN4A‐related paramyotonia congenita

Muscle & nerve, 2018-10, Vol.58 (4), p.E27-E28

2018

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Pharmacogenetics of myotonic hNav1.4 sodium channel variants situated near the fast inactivation gate

Pharmacological research, 2019-03, Vol.141, p.224-235

2019

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Brody myopathy demonstrates a pseudo‐increment on repetitive nerve stimulation

Muscle & nerve, 2020-04, Vol.61 (4), p.491-495

2020

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A TOR1AIP1 variant segregating with an early onset limb girdle myasthenia—Support for the role of LAP1 in NMJ function and disease

Neuropathology and applied neurobiology, 2022-02, Vol.48 (1), p.e12743-n/a

2022

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Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneurons

Acta neuropathologica, 2022-10, Vol.144 (4), p.707-731

2022

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Molecular Analysis of a Congenital Myasthenic Syndrome Due to a Pathogenic Variant Affecting the C-Terminus of ColQ

New mutation in the β1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani–Lenz syndrome

Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis

Moderate phenotype of a congenital myasthenic syndrome type 19 caused by mutation of the COL13A1 gene: a case report

Electromyography guides toward subgroups of mutations in muscle channelopathies

Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care

Case Report: A Novel AChR Epsilon Variant Causing a Clinically Discordant Salbutamol Responsive Congenital Myasthenic Syndrome in Two Egyptian Siblings

Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison

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

Cold extends electromyography distinction between ion channel mutations causing myotonia

Cold-induced disruption of Na+ channel slow inactivation underlies paralysis in highly thermosensitive paramyotonia

Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians

Comparative efficacy of repetitive nerve stimulation, exercise, and cold in differentiating myotonic disorders

Severe neonatal non‐dystrophic myotonia secondary to a novel mutation of the voltage‐gated sodium channel (SCN4A) gene

Dosage Effect of a Dominant CLCN1 Mutation: A Novel Syndrome

Functional characterization and cold sensitivity of T1313A, a new mutation of the skeletal muscle sodium channel causing paramyotonia congenita in humans

Moderate phenotype of a congenital myasthenic syndrome type 19 in an Algerian patient

In vivo and in vitro functional characterization of Andersen's syndrome mutations

A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis

Diagnosis and outcome of SCN4A-related severe neonatal episodic laryngospasm (SNEL): 2 new cases

Prolonged attacks of weakness with hypokalemia in SCN4A‐related paramyotonia congenita

Pharmacogenetics of myotonic hNav1.4 sodium channel variants situated near the fast inactivation gate

Brody myopathy demonstrates a pseudo‐increment on repetitive nerve stimulation

A TOR1AIP1 variant segregating with an early onset limb girdle myasthenia—Support for the role of LAP1 in NMJ function and disease

Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneurons

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