Sage Journals: Discover world-class research

Open access

Research article

First published 2025-7

Altered reversal and extinction learning in the DMSXL mouse model of type I myotonic dystrophy (DM1): An exploratory study

Sylvia Nieuwenhuis, Denys Kozakov, Kasia Kapusta [...]

Journal of Neuromuscular Diseases

Free access

Research article

First published 2021-07-30

Dysregulation of GSK3β-Target Proteins in Skin Fibroblasts of Myotonic Dystrophy Type 1 (DM1) Patients

Valentina Grande, Denisa Hathazi, Emily O’Connor [...]

Journal of Neuromuscular Diseases

Retricted access

Research article

First published 2017

Evolving Motivations: Patients’ and Caregivers’ Perceptions About Seeking Myotonic Dystrophy (DM1) and Huntington’s Disease Care

Kori A. LaDonna, Christopher J. Watling, Susan L. Ray [...]

Qualitative Health Research

Open access

Case report

First published 2025-7

Painful muscle stiffness with markedly elevated serum creatine kinase (CK) levels after twenty weeks of gestation in four patients with myotonic dystrophy type 1 (DM1) and a patient with paramyotonia congenita (PMC)

Masanobu Kinoshita, Masaomi Yamamoto, Ryuichi Machida [...]

Journal of Neuromuscular Diseases

Open access

Research article

First published 2021

Clinical Outcome Evaluations and CBT Response Prediction in Myotonic Dystrophy

Daniël van As, Kees Okkersen, Guillaume Bassez [...]

Journal of Neuromuscular Diseases

Open access

Review article

First published 2016-8-30

Can Human Pluripotent Stem Cell-Derived Cardiomyocytes Advance Understanding of Muscular Dystrophies?

Spandan Kalra, Federica Montanaro, Chris Denning

Journal of Neuromuscular Diseases

Free access

Research article

First published

Myotonic Dystrophy Type 2: An Update on Clinical Aspects,Genetic and Pathomolecular Mechanism

Giovanni Meola, Rosanna Cardani

Journal of Neuromuscular Diseases

Retricted access

Research article

First published 2012-12

Triplet-Primed PCR Is More Sensitive than Southern Blotting-Long PCR for the Diagnosis of Myotonic Dystrophy Type1

Maria Addis, Marianna Serrenti, Cristiana Meloni [...]

Genetic Testing and Molecular Biomarkers

Free access

Research article

First published 2018

Prenatal,Neonatal,and Early Childhood Features in Congenital Myotonic Dystrophy

Eugenio Zapata-Aldana, Delia Ceballos-Sáenz, Rhiannon Hicks [...]

Journal of Neuromuscular Diseases

Retricted access

Research article

First published 2015-12

Development and Validation of a New Molecular Diagnostic Assay for Detection of Myotonic Dystrophy Type 2

Rea Valaperta, Fortunata Lombardi, Rosanna Cardani [...]

Genetic Testing and Molecular Biomarkers

Search results