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Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment

Lancet neurology, 2015-04, Vol.14 (4), p.420-434

2015

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Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review

International journal of molecular sciences, 2023-02, Vol.24 (4), p.3730

2023

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Mutant SNAP25B causes myasthenia, cortical hyperexcitability, ataxia, and intellectual disability

Neurology, 2014-12, Vol.83 (24), p.2247-2255

2014

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Limb girdle muscular dystrophy D3 HNRNPDL related in a Chinese family with distal muscle weakness caused by a mutation in the prion-like domain

Journal of neurology, 2019-02, Vol.266 (2), p.498-506

2019

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The unfolding landscape of the congenital myasthenic syndromes

Annals of the New York Academy of Sciences, 2018-02, Vol.1413 (1), p.25-34

2018

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Determinants of the repetitive-CMAP occurrence and therapy efficacy in slow-channel myasthenia

Neurology, 2020-11, Vol.95 (20), p.e2781

2020

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Impaired Synaptic Development, Maintenance, and Neuromuscular Transmission in LRP4-Related Myasthenia

JAMA neurology, 2015-08, Vol.72 (8), p.889

2015

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Impaired gating of γ‐ and ε‐AChR respectively causes Escobar syndrome and fast‐channel myasthenia

Annals of clinical and translational neurology, 2023-05, Vol.10 (5), p.732-743

2023

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Comparison between mono‐tacrolimus and mono‐glucocorticoid in the treatment of myasthenia gravis

Annals of clinical and translational neurology, 2023-04, Vol.10 (4), p.589-598

2023

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Dok-7 myasthenia: Phenotypic and molecular genetic studies in 16 patients

Annals of neurology, 2008-07, Vol.64 (1), p.71-87

2008

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Mutations Causing Slow-Channel Myasthenia Reveal That a Valine Ring in the Channel Pore of Muscle AChR is Optimized for Stabilizing Channel Gating

Human mutation, 2016-10, Vol.37 (10), p.1051-1059

2016

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New horizons for congenital myasthenic syndromes

Annals of the New York Academy of Sciences, 2012-12, Vol.1275 (1), p.54-62

2012

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Beneficial effect of albuterol in congenital myasthenic syndrome with epsilon‐subunit mutations

Muscle & nerve, 2011-08, Vol.44 (2), p.289-291

2011

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Charcot–Marie–Tooth Disease With Episodic Rhabdomyolysis Due to Two Novel Mutations in the β Subunit of Mitochondrial Trifunctional Protein and Effective Response to Modified Diet Therapy

Frontiers in neurology, 2021-10, Vol.12, p.694966-694966

2021

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Missense Mutations of Codon 116 in the SOD1 Gene Cause Rapid Progressive Familial ALS and Predict Short Viability With PMA Phenotype

Frontiers in genetics, 2021-11, Vol.12, p.776831-776831

2021

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The presence of antibodies against low-density lipoprotein receptor-related protein 4 and impairment of neuromuscular junction in a Chinese cohort of amyotrophic lateral sclerosis

Chinese medical journal, 2019-06, Vol.132 (12), p.1487-1489

2019

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Loss of MUNC13-1 function causes microcephaly, cortical hyperexcitability, and fatal myasthenia

Neurology. Genetics, 2016-10, Vol.2 (5), p.e105-e105

2016

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Myasthenic Syndrome Caused by Mutation of the SCN4A Sodium Channel

Proceedings of the National Academy of Sciences - PNAS, 2003-06, Vol.100 (12), p.7377-7382

2003

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Novel synaptobrevin‐1 mutation causes fatal congenital myasthenic syndrome

Annals of clinical and translational neurology, 2017-02, Vol.4 (2), p.130-138

2017

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Slow‐channel myasthenia due to novel mutation in M2 domain of AChR delta subunit

Annals of clinical and translational neurology, 2019-10, Vol.6 (10), p.2066-2078

2019

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Functional consequences and structural interpretation of mutations of human choline acetyltransferase

Human mutation, 2011-11, Vol.32 (11), p.1259-1267

2011

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Are MuSK antibodies the primary cause of myasthenic symptoms?

Neurology, 2004-06, Vol.62 (11), p.1945-1950

2004

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Congenital myasthenic syndromes in adult neurology clinic: A long road to diagnosis and therapy

Neurology, 2018-11, Vol.91 (19), p.e1770

2018

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hnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndrome

Human molecular genetics, 2008-12, Vol.17 (24), p.4022-4035

2008

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Rapsyn Mutations in Humans Cause Endplate Acetylcholine-Receptor Deficiency and Myasthenic Syndrome

American journal of human genetics, 2002-04, Vol.70 (4), p.875-885

2002

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Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment

Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review

Mutant SNAP25B causes myasthenia, cortical hyperexcitability, ataxia, and intellectual disability

Limb girdle muscular dystrophy D3 HNRNPDL related in a Chinese family with distal muscle weakness caused by a mutation in the prion-like domain

The unfolding landscape of the congenital myasthenic syndromes

Determinants of the repetitive-CMAP occurrence and therapy efficacy in slow-channel myasthenia

Impaired Synaptic Development, Maintenance, and Neuromuscular Transmission in LRP4-Related Myasthenia

Impaired gating of γ‐ and ε‐AChR respectively causes Escobar syndrome and fast‐channel myasthenia

Comparison between mono‐tacrolimus and mono‐glucocorticoid in the treatment of myasthenia gravis

Dok-7 myasthenia: Phenotypic and molecular genetic studies in 16 patients

Mutations Causing Slow-Channel Myasthenia Reveal That a Valine Ring in the Channel Pore of Muscle AChR is Optimized for Stabilizing Channel Gating

New horizons for congenital myasthenic syndromes

Beneficial effect of albuterol in congenital myasthenic syndrome with epsilon‐subunit mutations

Charcot–Marie–Tooth Disease With Episodic Rhabdomyolysis Due to Two Novel Mutations in the β Subunit of Mitochondrial Trifunctional Protein and Effective Response to Modified Diet Therapy

Missense Mutations of Codon 116 in the SOD1 Gene Cause Rapid Progressive Familial ALS and Predict Short Viability With PMA Phenotype

The presence of antibodies against low-density lipoprotein receptor-related protein 4 and impairment of neuromuscular junction in a Chinese cohort of amyotrophic lateral sclerosis

Loss of MUNC13-1 function causes microcephaly, cortical hyperexcitability, and fatal myasthenia

Myasthenic Syndrome Caused by Mutation of the SCN4A Sodium Channel

Novel synaptobrevin‐1 mutation causes fatal congenital myasthenic syndrome

Slow‐channel myasthenia due to novel mutation in M2 domain of AChR delta subunit

Functional consequences and structural interpretation of mutations of human choline acetyltransferase

Are MuSK antibodies the primary cause of myasthenic symptoms?

Congenital myasthenic syndromes in adult neurology clinic: A long road to diagnosis and therapy

hnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndrome

Rapsyn Mutations in Humans Cause Endplate Acetylcholine-Receptor Deficiency and Myasthenic Syndrome

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