Sage Journals: Discover world-class research

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Research article

First published 1992-4

Congenital Muscular Dystrophy With Abnormal Radiographic Myelin Pattern

J.D. Cook, G.G. Gascon, A. Haider [...]

Journal of Child Neurology

Open access

Review article

First published 2019

Advances in imaging of brain abnormalities in neuromuscular disease

Corrado Angelini, Elena Pinzan

Therapeutic Advances in Neurological Disorders

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Research article

First published 2000-3

Clinical and Histopathological Study of Merosin-deficient and Merosin-positive Congenital Muscular Dystrophy

Beril Talim, Gülsev Kale, Haluk Topaloǧlu [...]

Pediatric and Developmental Pathology

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Research article

First published 2025

Clinical and Genetic Landscape of Children With Congenital Muscular Dystrophies From North India

Anirban Basu, Renu Suthar, Abhishek Pandey [...]

Journal of Child Neurology

Open access

Research article

First published 2015

Whole Exome Sequencing Reveals DYSF,FKTN,and ISPD Mutations in Congenital Muscular Dystrophy Without Brain or Eye Involvement

Ozge Ceyhan-Birsoy, Beril Talim, Lindsay C. Swanson [...]

Journal of Neuromuscular Diseases

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Research article

First published 2013-03

Adeno-Associated Viral-Mediated LARGE Gene Therapy Rescues the Muscular Dystrophic Phenotype in Mouse Models of Dystroglycanopathy

Miao Yu, Yonglin He, Kejian Wang [...]

Human Gene Therapy

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

Brief report

First published 2018

A Qualitative Approach to Health Related Quality-of-Life in Congenital Muscular Dystrophy

Kylie M. Cornwall, Russell J. Butterfield, Antonio Hernandez [...]

Journal of Neuromuscular Diseases

Open access

Review article

First published 2017

Improving Reproducibility of Phenotypic Assessments in the DyW Mouse Model of Laminin-α2 Related Congenital Muscular Dystrophy

Raffaella Willmann, Heather Gordish-Dressman, Sarina Meinen [...]

Journal of Neuromuscular Diseases

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Research article

First published 2006-11

The Congenital Muscular Dystrophies: Recent Advances and Molecular Insights

Jerry R. Mendell, Daniel R. Boué, Paul T. Martin

Pediatric and Developmental Pathology

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