Congenital myasthenic syndromes: gene mutation

Anti-MuSK autoantibodies block binding of collagen Q to MuSK.

Neurology·2011

Myasthenic syndrome caused by plectinopathy.

Neurology·2011

Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients.

Neurology·2009

Novel congenital myasthenic syndromes associated with defects in quantal release.

Neurology·2006

Spectrum of splicing errors caused by CHRNE mutations affecting introns and intron/exon boundaries.

Journal of medical genetics·2005

Congenital endplate acetylcholinesterase deficiency responsive to ephedrine.

Neurology·2005

Clinical studies in 82 individuals with valosin-containing protein (VCP) associated multisystem proteinopathy and literature review.

Neuromuscular disorders : NMD·2026

Baseline characterisation of adults living with spinal muscular atrophy in the UK: insight from the Adult SMA REACH Real-World Data Collection Study.

Neuromuscular disorders : NMD·2026

Aquatic training improves muscle strength and functional mobility in adults with myotonic dystrophy type 1: a pilot randomized trial.

Neuromuscular disorders : NMD·2026

Severe dilated cardiomyopathy in females with dystrophinopathy : a case series of nine patients.

Neuromuscular disorders : NMD·2026

A portrait of facioscapulohumeral muscular dystrophy through history: past milestones and future challenges on the road to understanding and treatment.

Neuromuscular disorders : NMD·2026

Systematic review of outcome measures in facioscapulohumeral dystrophy (FSHD): validated, usable, and feasible tools for assessing function, performance, and strength.

Neuromuscular disorders : NMD·2026

Cuproptosis-related Gene SLC31A1 Correlates with M2 Macrophage Infiltration and Serves as a Potential Therapeutic Target in Glioma: A Comprehensive Analysis of 1573 Samples from TCGA and CGGA Databases.

Recent patents on anti-cancer drug discovery·2026

Statistical analysis plan considerations for autologous cell and cell-based gene therapy clinical trials.

Journal of biopharmaceutical statistics·2026

Designs of the clinical trials aiming at evaluating cell and gene therapy products: A critical appraisal from a literature review.

Molecular therapy. Advances·2026

Longitudinal drug response assessment of tumor organoids based on optical attenuation coefficient and multi-dimensional morphological characterization.

Biomedical optics express·2026

Nanosensitive optical coherence tomography to monitor corneal burn and treatment response in vivo.

Biomedical optics express·2026

Contemporary perspectives on metabolic surgery for type 2 diabetes: surgical techniques, outcomes, and complications.

Frontiers in endocrinology·2026

Related Experiment Videos

Congenital myasthenic syndromes: gene mutation

Related Concept Videos

Anti-MuSK autoantibodies block binding of collagen Q to MuSK.

Myasthenic syndrome caused by plectinopathy.

Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients.

Novel congenital myasthenic syndromes associated with defects in quantal release.

Spectrum of splicing errors caused by CHRNE mutations affecting introns and intron/exon boundaries.

Congenital endplate acetylcholinesterase deficiency responsive to ephedrine.

Clinical studies in 82 individuals with valosin-containing protein (VCP) associated multisystem proteinopathy and literature review.

Baseline characterisation of adults living with spinal muscular atrophy in the UK: insight from the Adult SMA REACH Real-World Data Collection Study.

Aquatic training improves muscle strength and functional mobility in adults with myotonic dystrophy type 1: a pilot randomized trial.

Severe dilated cardiomyopathy in females with dystrophinopathy : a case series of nine patients.

A portrait of facioscapulohumeral muscular dystrophy through history: past milestones and future challenges on the road to understanding and treatment.

Systematic review of outcome measures in facioscapulohumeral dystrophy (FSHD): validated, usable, and feasible tools for assessing function, performance, and strength.

Cuproptosis-related Gene SLC31A1 Correlates with M2 Macrophage Infiltration and Serves as a Potential Therapeutic Target in Glioma: A Comprehensive Analysis of 1573 Samples from TCGA and CGGA Databases.

Statistical analysis plan considerations for autologous cell and cell-based gene therapy clinical trials.

Designs of the clinical trials aiming at evaluating cell and gene therapy products: A critical appraisal from a literature review.

Longitudinal drug response assessment of tumor organoids based on optical attenuation coefficient and multi-dimensional morphological characterization.

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Congenital myasthenic syndromes: gene mutation

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