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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 2017

Functional Characterization of C-terminal Ryanodine Receptor 1 Variants Associated with Central Core Disease or Malignant Hyperthermia

Remai Parker, Anja H. Schiemann, Elaine Langton [...]

Journal of Neuromuscular Diseases

Open access

Research article

First published

Functional Characterization of a Central Core Disease RyR1 Mutation (p.Y4864H) Associated with Quantitative Defect in RyR1 Protein

Marine Cacheux, Ariane Blum, Muriel Sébastien [...]

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

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

Meeting report

First published 1968-12

Congenital Clubfoot with Central Core Disease of Muscle

Victor Dubowitz, John Sharrard

Journal of the Royal Society of Medicine

Retricted access

Brief report

First published 2000-12

Does the A3333G Mutation in the CACNL1A3 Gene,Detected in Malignant Hyperthermia,Also Occur in Central Core Disease?

Mariz Vainzof, Viviane P. Muniz, Ana Maria C. Tsanaclis [...]

Genetic Testing and Molecular Biomarkers

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Research article

First published 2001-6

Stereotactic Breast Biopsy: A Study of First Core Samples

Henry J. Kaufman, Laura E. Witherspoon, John L. Gwin [...]

The American Surgeon™

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

Other

First published 2007-06

Congenital Myopathies in Israeli Families

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

Journal of Child Neurology

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