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Research article

First published 2020

Lower Extremity Muscle Involvement in the Intermediate and Bethlem Myopathy Forms of COL6-Related Dystrophy and Duchenne Muscular Dystrophy: A Cross-Sectional Study

Abhinandan Batra, Donovan J. Lott, Rebecca Willcocks [...]

Journal of Neuromuscular Diseases

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Research article

First published 2017-12

Skin Biopsy for Diagnosis of Ullrich Congenital Muscular Dystrophy: An Observational Study

Biswaroop Chakrabarty, M. C. Sharma, Sheffali Gulati [...]

Journal of Child Neurology

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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

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Research article

First published 2024-8

Type VI Collagen Deficiency Causes Enhanced Periodontal Tissue Destruction

T. Komori, V. Kram, S. Perry [...]

Journal of Dental Research

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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

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Research article

First published 2012-12

Antisense-Induced Messenger Depletion Corrects a COL6A2 Dominant Mutation in Ullrich Myopathy

Francesca Gualandi, Elisa Manzati, Patrizia Sabatelli [...]

Human Gene Therapy

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Research article

First published 2023-09

Simultaneous Effects of a Selective EP2 Agonist,Omidenepag,and a Rho-Associated Coiled-Coil Containing Protein Kinase Inhibitor,Ripasudil,on Human Orbital Fibroblasts

Fumihito Hikage, Megumi Watanabe, Tatsuya Sato [...]

Journal of Ocular Pharmacology and Therapeutics

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Research article

First published 2019

Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service

Dineke Westra, Meyke I. Schouten, Bas C. Stunnenberg [...]

Journal of Neuromuscular Diseases

Open access

Abstract

First published 2020-7

Differences in articular hip cartilage gene expression between femoroacetabular impingement (FAI) and end-stage hip osteoarthritis

John Reuter, Gillian Soles, Cheryl Ackert-Bicknell [...]

Orthopaedic Journal of Sports Medicine

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