Paramyotonia Congenita Latest Advances

Find the Latest Research About Paramyotonia Congenita

Last Updated: 09/26/2026

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Found 7892 publications

Myotonic dystrophy type 1 - updates on mechanisms of multisystemic manifestations, genetically targeted therapeutics, and preparing for a postapproval world.

Myotonic dystrophy type 1 - updates on mechanisms of multisystemic manifestations, genetically targeted therapeutics, and preparing for a postapproval world.

Journal: Current opinion in neurology

Published: August 22, 2026

Total energy expenditure assessed by doubly labeled water in patients with myotonic dystrophy type 1: Associations with body composition and functional status.

Total energy expenditure assessed by doubly labeled water in patients with myotonic dystrophy type 1: Associations with body composition and functional status.

Journal: Journal of neuromuscular diseases

Published: August 05, 2026

Energy expenditure and the accuracy of predictive equations in myotonic dystrophy type 1.

Energy expenditure and the accuracy of predictive equations in myotonic dystrophy type 1.

Journal: Journal of neuromuscular diseases

Published: July 31, 2026

Natural History of Adult-Onset Myotonic Dystrophy Type 1: Longitudinal Changes in Radiologic, Clinical, and Patient-Reported Outcomes.

Natural History of Adult-Onset Myotonic Dystrophy Type 1: Longitudinal Changes in Radiologic, Clinical, and Patient-Reported Outcomes.

Journal: Neurology

Published: July 29, 2026

General Anesthetic Management for Laparoscopic Appendectomy in a Patient With Myotonia Congenita: A Case Report.

General Anesthetic Management for Laparoscopic Appendectomy in a Patient With Myotonia Congenita: A Case Report.

Journal: AANA journal

Published: July 23, 2026

Shared decision-making about prolonged invasive ventilation for adults with myotonic dystrophy type 1.

Shared decision-making about prolonged invasive ventilation for adults with myotonic dystrophy type 1.

Journal: Chronic respiratory disease

Published: July 21, 2026

Treatment updates in myotonic disorders.

Treatment updates in myotonic disorders.

Journal: Journal of neurology

Published: July 13, 2026

Aberrant neuronal differentiation and splicing defects in Congenital Myotonic Dystrophy (DM1) iPSC models.

Aberrant neuronal differentiation and splicing defects in Congenital Myotonic Dystrophy (DM1) iPSC models.

Journal: bioRxiv : the preprint server for biology

Published: July 10, 2026

Myotonic dystrophy family registry. The patient experience.

Myotonic dystrophy family registry. The patient experience.

Journal: Journal of neuromuscular diseases

Published: July 06, 2026

A simple, sensitive microsample LC-MS assay for quercetin and isorhamnetin in mouse and human plasma: application to EMIQ treatment in myotonic dystrophy type 1.

A simple, sensitive microsample LC-MS assay for quercetin and isorhamnetin in mouse and human plasma: application to EMIQ treatment in myotonic dystrophy type 1.

Journal: Bioanalysis

Published: July 03, 2026

Gynecological and Obstetrical Issues Experienced by Women Diagnosed with Myotonic Dystrophy Type 1: A Scoping Review.

Gynecological and Obstetrical Issues Experienced by Women Diagnosed with Myotonic Dystrophy Type 1: A Scoping Review.

Journal: Journal of women's health (2002)

Published: June 11, 2026

Rad51 strand invasion function is needed for its role in CCTG tetranucleotide DNA repeat contractions.

Rad51 strand invasion function is needed for its role in CCTG tetranucleotide DNA repeat contractions.

Journal: microPublication biology

Published: June 09, 2026

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Last Updated: 09/26/2026