Last Updated: 09/26/2026
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Found 40 publications
Congenital myasthenic syndrome due to novel GFPT1 variant presenting with head drop and visual impairment: A case report.
Journal: Journal of neuromuscular diseases
Published: June 05, 2026
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
Congenital myasthenic syndromes.
Journal: International review of neurobiology
Published: July 17, 2025
RAPSN-Associated Congenital Myasthenic Syndrome due to Biallelic Single Nucleotide Variants at the Same Position.
Journal: Case reports in genetics
Published: January 12, 2025
Congenital myasthenic syndrome secondary to pathogenic variants in the SLC5A7 gene: report of two cases.
Journal: BMC medical genomics
Published: March 11, 2024
Adeno-Associated Virus Type 9-Mediated Gene Therapy of Choline Acetyltransferase-Deficient Mice.
Journal: Human gene therapy
Published: February 01, 2024
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.
Journal: Frontiers in oncology
Published: April 03, 2023
Atypical Case of POEMS Presented as Demyelinating Polyneuropathy With Motor Conduction Block.
Journal: Journal of clinical neuromuscular disease
Published: November 22, 2021
Dominant and recessive congenital myasthenic syndromes caused by SYT2 mutations.
Journal: Muscle & nerve
Published: February 24, 2021
Last Updated: 09/26/2026