Sage Journals: Discover world-class research

Free access

Case report

First published 2006-7

Myopathy with Central Cores in a Foal

O. Paciello, M. P. Pasolini, L. Navas [...]

Veterinary Pathology

Free access

Research article

First published 2017

RYR1-Related Myopathies: Clinical,Histopathologic and Genetic Heterogeneity Among 17 Patients from a Portuguese Tertiary Centre

Raquel Samões, Jorge Oliveira, Ricardo Taipa [...]

Journal of Neuromuscular Diseases

Retricted access

Research article

First published 2006-02

Central Core Disease: Atypical Case With Respiratory Insufficiency in an Intensive Care Unit

Muzaffer Polat, Ayse Tosun, Yilmaz Ay [...]

Journal of Child Neurology

Retricted access

Other

First published 2007-06

Congenital Myopathies in Israeli Families

Karin Weiss, Yehuda Shapira, Benjamin Glick [...]

Journal of Child Neurology

Retricted access

Research article

First published 2013-3

Clinical Features and Ryanodine Receptor Type 1 Gene Mutation Analysis in a Chinese Family With Central Core Disease

Xingzhi Chang, Yiwen Jin, Haijuan Zhao [...]

Journal of Child Neurology

Open access

Research article

First published 2024

Individuals and Families Affected by RYR1-Related Diseases: The Patient/Caregiver Perspective

Sanne A.J.H. van de Camp, Lizan Stinissen, Andrew Huseth [...]

Journal of Neuromuscular Diseases

Retricted access

Research article

First published 2012-3

Consensus Statement on Standard of Care for Congenital Myopathies

Ching H. Wang, James J. Dowling, Kathryn North [...]

Journal of Child Neurology

Retricted access

Research article

First published 2013-07

Exon Skipping as a Therapeutic Strategy Applied to an RYR1 Mutation with Pseudo-Exon Inclusion Causing a Severe Core Myopathy

John Rendu, Julie Brocard, Eric Denarier [...]

Human Gene Therapy

Open access

Research article

First published 2021-07-30

Ryanodine Receptor 1-Related Myopathies: Quantification of Intramuscular Fatty Infiltration from T1-Weighted MRI

Tokunbor A. Lawal, Aneesh Patankar, Joshua J. Todd [...]

Journal of Neuromuscular Diseases

Retricted access

Research article

First published 2002-04

Polymyositis-Like Syndrome in Hypothyroidism: Review of Cases Reported Over the Past Twenty-Five Years

Miguel G. Madariaga, Nancy Gamarra, Sandra Dempsey [...]

Thyroid®

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