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Last Updated: 01/07/2026

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Found 7744 publications

MBNL loss of function in smooth muscle as a model for myotonic dystrophy associated gastrointestinal dysmotility.

MBNL loss of function in smooth muscle as a model for myotonic dystrophy associated gastrointestinal dysmotility.

Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: December 11, 2025

The MYOCAPTURE project: Capturing the elusive mutations behind congenital myopathies

The MYOCAPTURE project: Capturing the elusive mutations behind congenital myopathies

Journal: Medecine sciences : M/S
Published: November 28, 2025

Aberrant Splicing of Dnm1l Impairs Cardiac Bioenergetics and Mitochondrial Dynamics in Myotonic Dystrophy Type I (DM1).

Aberrant Splicing of Dnm1l Impairs Cardiac Bioenergetics and Mitochondrial Dynamics in Myotonic Dystrophy Type I (DM1).

Journal: Circulation. Genomic and precision medicine
Published: November 10, 2025

Different operationalizations of the capability approach in evaluating rehabilitation for persons with neuromuscular diseases: a mixed-methods study.

Different operationalizations of the capability approach in evaluating rehabilitation for persons with neuromuscular diseases: a mixed-methods study.

Journal: Disability and rehabilitation
Published: November 01, 2025

Health-related quality of life, pain, and fatigue in myotonic dystrophy type 2: a 13-year follow-up study.

Health-related quality of life, pain, and fatigue in myotonic dystrophy type 2: a 13-year follow-up study.

Journal: Disability and rehabilitation
Published: October 31, 2025

Massive Splenic Infarction: A Rare Entity in a Female Teenager.

Massive Splenic Infarction: A Rare Entity in a Female Teenager.

Journal: Cureus
Published: October 27, 2025

287th ENMC international workshop: Harmonization and federated analysis of myotonic dystrophy registries to model heterogeneous disease trajectories. Hoofddorp, the Netherlands, 28-30 March 2025.

287th ENMC international workshop: Harmonization and federated analysis of myotonic dystrophy registries to model heterogeneous disease trajectories. Hoofddorp, the Netherlands, 28-30 March 2025.

Journal: Neuromuscular disorders : NMD
Published: October 21, 2025

Predictors of respiratory failure and survival in myotonic dystrophy type 1.

Predictors of respiratory failure and survival in myotonic dystrophy type 1.

Journal: Journal of neuromuscular diseases
Published: October 21, 2025

AAV-mediated DMPK silencing: A defining moment in myotonic dystrophy type 1 therapeutics.

AAV-mediated DMPK silencing: A defining moment in myotonic dystrophy type 1 therapeutics.

Journal: Molecular therapy : the journal of the American Society of Gene Therapy
Published: October 15, 2025

Corpus Callosum Diffusion Restriction in Neonatal Congenital Myotonic Dystrophy.

Corpus Callosum Diffusion Restriction in Neonatal Congenital Myotonic Dystrophy.

Journal: Cureus
Published: October 13, 2025

Real-world evidence supporting orphan drugs approvals for rare neuromuscular disorders in the European Union and the United States: Review of public assessment reports (2015-2025).

Real-world evidence supporting orphan drugs approvals for rare neuromuscular disorders in the European Union and the United States: Review of public assessment reports (2015-2025).

Journal: Current opinion in pharmacology
Published: October 08, 2025

Therapeutic Challenges in Managing Triple-Negative Breast Cancer in a Patient With Central Core Disease.

Therapeutic Challenges in Managing Triple-Negative Breast Cancer in a Patient With Central Core Disease.

Journal: Cureus
Published: October 07, 2025
Showing 1-12 of 7,744

Last Updated: 01/07/2026