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Last Updated: 01/07/2026

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Found 989 publications

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

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.

Future perspectives on myasthenia gravis and related disorders.

Journal: International review of neurobiology
Published: October 16, 2025

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

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.

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

Journal: Continuum (Minneapolis, Minn.)
Published: October 02, 2025

Neuromuscular diseases in pediatrics with specific treatments

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.

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

Journal: Neurology
Published: September 26, 2025

Salbutamol in Congenital Myasthenic Syndrome: A Systematic Review.

Salbutamol in Congenital Myasthenic Syndrome: A Systematic Review.

Journal: BMC neurology
Published: September 16, 2025

Expanding the phenotypic and imaging spectrum of GFPT1-related congenital myasthenic syndromes: a Brazilian case series.

Expanding the phenotypic and imaging spectrum of GFPT1-related congenital myasthenic syndromes: a Brazilian case series.

Journal: Frontiers in neurology
Published: August 10, 2025

Congenital Myasthenic Syndrome in Pregnancy: A Case Report and Literature Review on Peripartum Management Strategy.

Congenital Myasthenic Syndrome in Pregnancy: A Case Report and Literature Review on Peripartum Management Strategy.

Journal: Cureus
Published: August 04, 2025

Salbutamol in the management of congenital myasthenic syndrome (CMS) and associated IgA and IgG Deficiency.

Salbutamol in the management of congenital myasthenic syndrome (CMS) and associated IgA and IgG Deficiency.

Journal: JPMA. The Journal of the Pakistan Medical Association
Published: August 02, 2025

In vitro cell model to dilucidate the underlying molecular mechanism associated with ophthalmic manifestation of congenital disorders of glycosylation: studying an ALG2-CDG patient.

In vitro cell model to dilucidate the underlying molecular mechanism associated with ophthalmic manifestation of congenital disorders of glycosylation: studying an ALG2-CDG patient.

Journal: Frontiers in genetics
Published: August 01, 2025

Congenital myasthenic syndromes.

Congenital myasthenic syndromes.

Journal: International review of neurobiology
Published: July 17, 2025
Showing 1-12 of 989

Last Updated: 01/07/2026