Congenital Myasthenic Syndrome Latest Advances

Anesthetic Considerations in Congenital Myasthenic Syndrome: A Case Report.

Journal: Cureus

Published: December 15, 2025

Slow-Channel Congenital Myasthenic Syndrome due to a CHRNA1 Variant Masquerading as Atypical Anorexia Nervosa: A Case Report.

Journal: Cureus

Published: November 06, 2025

Future perspectives on myasthenia gravis and related disorders.

Journal: International review of neurobiology

Published: October 16, 2025

Electrodiagnostic Evaluation of Congenital Myasthenic Syndromes.

Journal: Muscle & nerve

Published: October 14, 2025

Effective Treatment of Colq-Deficient Mice with Adeno-Associated Virus Type Rh74-Mediated Gene Therapy.

Journal: Human gene therapy

Published: October 08, 2025

Botulism, Lambert-Eaton Myasthenic Syndrome, and Congenital Myasthenic Syndromes.

Journal: Continuum (Minneapolis, Minn.)

Published: October 02, 2025

Neuromuscular diseases in pediatrics with specific treatments

Journal: Medicina

Published: October 02, 2025

Screening for Congenital Myasthenic Syndromes in Adults With Seronegative Myasthenia Gravis Using Next-Generation Sequencing.

Journal: Neurology

Published: September 26, 2025

Exploring molecular signatures in PURA syndrome using muscle proteomics and serum biomarkers.

Journal: Journal of neurology

Published: September 17, 2025

Salbutamol in Congenital Myasthenic Syndrome: A Systematic Review.

Journal: BMC neurology

Published: September 16, 2025

Congenital Myasthenic Syndrome: Long-Term Outcomes up to 60 Years, Molecular Characterization, and Eight Novel Variants.

Journal: Clinical genetics

Published: September 11, 2025

A novel case of compound heterozygous GFPT1 congenital myasthenic syndrome with a coexisting heterozygous DYSF mutation: clinical and pathological insights.

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Published: September 09, 2025