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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

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 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

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

Giovanni Meola, Rosanna Cardani

Journal of Neuromuscular Diseases

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 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

Open access

Research article

First published 2014

Cognitive Deficits Associated with Sleep Apnea in Myotonic Dystrophy Type 1

Benjamin Gallais, Cynthia Gagnon, Jean Mathieu [...]

Journal of Neuromuscular Diseases

Retricted access

Research article

First published 2017-2

MRI findings and cognitive functions in a small cohort of myotonic dystrophy type 1: Retrospective analyses

Arsida Bajrami, Filiz Azman, Vildan Yayla [...]

The Neuroradiology Journal

Open access

Research article

First published 2024-03-05

Living with Dysphagia: A Survey Exploring the Experiences of Adults Living with Neuromuscular Disease and their Caregivers in the United Kingdom

Jodi Allen, Aoife Stone-Ghariani, Gabriella Quezada [...]

Journal of Neuromuscular Diseases

Retricted access

Review article

First published 2013-05

Antisense Oligonucleotides: Rising Stars in Eliminating RNA Toxicity in Myotonic Dystrophy

Zhihua Gao, Thomas A. Cooper

Human Gene Therapy

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