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Pathogenic effects of agrin V1727F mutation are isoform specific and decrease its expression and affinity for HSPGs and LRP4

Human molecular genetics, 2019-08, Vol.28 (16), p.2648-2658

2019

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Dominant and recessive congenital myasthenic syndromes caused by SYT2 mutations

Muscle & nerve, 2021-08, Vol.64 (2), p.219-224

2021

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Recessive congenital myasthenic syndrome caused by a homozygous mutation in SYT2 altering a highly conserved C‐terminal amino acid sequence

American journal of medical genetics. Part A, 2020-07, Vol.182 (7), p.1744-1749

2020

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Intravenous immunoglobulin is safe and effective in controlling pre-existing paraneoplastic neuromuscular diseases in cancer patients treated with immune checkpoint inhibitors: two case reports and literature review

Frontiers in oncology, 2023-07, Vol.13, p.1199195

2023

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Defective fast inactivation recovery of Nav1.4 in congenital myasthenic syndrome

Annals of neurology, 2015-05, Vol.77 (5), p.840-850

2015

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Congenital myasthenic syndrome secondary to pathogenic variants in the SLC5A7 gene: report of two cases

BMC medical genomics, 2024-08, Vol.17 (1), p.1-6, Article 207

2024

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LG2 agrin mutation causing severe congenital myasthenic syndrome mimics functional characteristics of non-neural (z−) agrin

Human genetics, 2012-07, Vol.131 (7), p.1123-1135

2012

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Mutations in MUSK causing congenital myasthenic syndrome impair MuSK–Dok-7 interaction

Human molecular genetics, 2010-06, Vol.19 (12), p.2370-2379

2010

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Effect of 3,4‐diaminopyridine at the murine neuromuscular junction

Muscle & nerve, 2017-02, Vol.55 (2), p.223-231

2017

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Synaptic basal lamina-associated congenital myasthenic syndromes

Annals of the New York Academy of Sciences, 2012-12, Vol.1275 (1), p.36-48

2012

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Choline Acetyltransferase Mutations Causing Congenital Myasthenic Syndrome: Molecular Findings and Genotype-Phenotype Correlations

Human mutation, 2015-09, Vol.36 (9), p.881-893

2015

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Congenital Myasthenic Syndrome due to DOK7 mutations in a family from Chile

European journal of translational myology, 2017-09, Vol.27 (3), p.6832

2017

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Adeno-Associated Virus Type 9-Mediated Gene Therapy of Choline Acetyltransferase-Deficient Mice

Human gene therapy, 2024-02, Vol.35 (3-4), p.123-131

2024

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Phenotypic Differences in 2 Unrelated Cases Carrying Identical DOK7 Mutations

Journal of clinical neuromuscular disease, 2019-09, Vol.21 (1), p.30-34

2019

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Atypical Case of POEMS Presented as Demyelinating Polyneuropathy With Motor Conduction Block

Journal of clinical neuromuscular disease, 2021-12, Vol.23 (2), p.116-118

2021

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Choline acetyltransferase mutations in myasthenic syndrome due to deficient acetylcholine resynthesis

Muscle & nerve, 2003-02, Vol.27 (2), p.180-187

2003

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Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission

American journal of medical genetics. Part A, 2017-08, Vol.173 (8), p.2240-2245

2017

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Identification of pathogenic mutations in the human rapsyn gene

Journal of human genetics, 2003-04, Vol.48 (4), p.204-207

2003

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COOH-terminal collagen Q (COLQ) mutants causing human deficiency of endplate acetylcholinesterase impair the interaction of ColQ with proteins of the basal lamina

Human genetics, 2014-05, Vol.133 (5), p.599-616

2014

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A presynaptic congenital myasthenic syndrome attributed to a homozygous sequence variant in LAMA5

Annals of the New York Academy of Sciences, 2018-02, Vol.1413 (1), p.119-125

2018

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Novel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanisms

Annals of neurology, 2002-01, Vol.51 (1), p.102-112

2002

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Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering

Muscle & nerve, 2003-09, Vol.28 (3), p.293-301

2003

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Axonal neuropathy in female carriers of the fragile X premutation with fragile x-associated tremor ataxia syndrome

Muscle & nerve, 2015-08, Vol.52 (2), p.234-239

2015

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Common founder effect of rapsyn N88K studied using intragenic markers

Journal of human genetics, 2004-07, Vol.49 (7), p.366-369

2004

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Pathogenic effects of agrin V1727F mutation are isoform specific and decrease its expression and affinity for HSPGs and LRP4

Dominant and recessive congenital myasthenic syndromes caused by SYT2 mutations

Recessive congenital myasthenic syndrome caused by a homozygous mutation in SYT2 altering a highly conserved C‐terminal amino acid sequence

Intravenous immunoglobulin is safe and effective in controlling pre-existing paraneoplastic neuromuscular diseases in cancer patients treated with immune checkpoint inhibitors: two case reports and literature review

Defective fast inactivation recovery of Nav1.4 in congenital myasthenic syndrome

Congenital myasthenic syndrome secondary to pathogenic variants in the SLC5A7 gene: report of two cases

LG2 agrin mutation causing severe congenital myasthenic syndrome mimics functional characteristics of non-neural (z−) agrin

Mutations in MUSK causing congenital myasthenic syndrome impair MuSK–Dok-7 interaction

Effect of 3,4‐diaminopyridine at the murine neuromuscular junction

Synaptic basal lamina-associated congenital myasthenic syndromes

Choline Acetyltransferase Mutations Causing Congenital Myasthenic Syndrome: Molecular Findings and Genotype-Phenotype Correlations

Congenital Myasthenic Syndrome due to DOK7 mutations in a family from Chile

Adeno-Associated Virus Type 9-Mediated Gene Therapy of Choline Acetyltransferase-Deficient Mice

Phenotypic Differences in 2 Unrelated Cases Carrying Identical DOK7 Mutations

Atypical Case of POEMS Presented as Demyelinating Polyneuropathy With Motor Conduction Block

Choline acetyltransferase mutations in myasthenic syndrome due to deficient acetylcholine resynthesis

Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission

Identification of pathogenic mutations in the human rapsyn gene

COOH-terminal collagen Q (COLQ) mutants causing human deficiency of endplate acetylcholinesterase impair the interaction of ColQ with proteins of the basal lamina

A presynaptic congenital myasthenic syndrome attributed to a homozygous sequence variant in LAMA5

Novel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanisms

Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering

Missense variants in CMS22 patients reveal that PREPL has both enzymatic and nonenzymatic functions

Axonal neuropathy in female carriers of the fragile X premutation with fragile x-associated tremor ataxia syndrome

Common founder effect of rapsyn N88K studied using intragenic markers

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