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Open access

Review article

First published 2017

Myofibrillar Myopathies: New Perspectives from Animal Models to Potential Therapeutic Approaches

Sabrina Batonnet-Pichon, Anthony Behin, Eva Cabet [...]

Journal of Neuromuscular Diseases

Open access

Research article

First published 2024-11

Mutational and clinical spectrum of myofibrillar myopathy in one center from China

Qi Wang, Peng Sun, Meng Yu [...]

Journal of Neuromuscular Diseases

Retricted access

Research article

First published 2018-06

Genetic Mutations and Demographic,Clinical,and Morphological Aspects of Myofibrillar Myopathy in a French Cohort

Alzira Alves de Siqueira Carvalho, Emmanuele Lacene, Guy Brochier [...]

Genetic Testing and Molecular Biomarkers

Free access

Research article

First published 2016

Homozygosity of the Dominant Myotilin c.179C>T (p.Ser60Phe) Mutation Causes a More Severe and Proximal Muscular Dystrophy

Gabrielle Rudolf, Tiina Suominen, Sini Penttilä [...]

Journal of Neuromuscular Diseases

Retricted access

Other

First published 2010-11

End-Stage Cardiac Disease as an Initial Presentation of Systemic Myopathies: Case Series and Literature Review

Hans Katzberg, Jason Karamchandani, Yuen T. So [...]

Journal of Child Neurology

Retricted access

Other

First published 2004-02

Actin-Related Myopathy Without Any Missense Mutation in the ACTA1 Gene

Hans H. Goebel, Knut Brockmann, Carsten G. Bönnemann [...]

Journal of Child Neurology

Open access

Review article

First published 2016

Arrhythmogenic Right Ventricular Dysplasia in Neuromuscular Disorders

Josef Finsterer, Claudia Stöllberger

Clinical Medicine Insights: Cardiology

Open access

Research article

First published 2025

CACNA1S -associated triadopathy presenting with myalgia,muscle weakness,and asymptomatic hyperCKemia

Si Luo, Min Zhu, Dandan Tan [...]

Therapeutic Advances in Neurological Disorders

Free access

Research article

First published 2021-07-30

Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related Myopathies

Rocío N. Villar-Quiles, Sandra Donkervoort, Alix de Becdelièvre [...]

Journal of Neuromuscular Diseases

Free access

Research article

First published 2023-1-3

Unique Clinical,Radiological and Histopathological Characteristics of a Southeast Asian Cohort of Patients with Limb-Girdle Muscular Dystrophy 2G/LGMD-R7-Telethonin-Related

Zhiyong Chen, Monica Saini, Jasmine S. Koh [...]

Journal of Neuromuscular Diseases

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