Search Result "congenital myopathies"

Ullrich Congenital Dystrophy and Bethlem Myopathy: Current Knowledge on the Clinical Spectrum, Pathogenesis, and Future Therapeutic Avenues of Collagen VI Related Muscular Dystrophies

Journal: Current Pediatric Reviews
Volume: 5 Issue: 1 Year: 2009 Page: 28-35
Author(s): Nicolas Deconinck, Tanya Stojkovic

Review Article

Therapies for RYR1-Related Myopathies: Where We Stand and the Perspectives

Journal: Current Pharmaceutical Design
Volume: 27 Issue: 0 Year: 2021 Page: 1-11
Author(s): Mathilde Beaufils,Lauriane Travard,John Rendu,Isabelle Marty

Muscular Dystrophies and Mitochondrial Myopathies

Ebook: Pediatric Anesthesia: A Guide for the Non-Pediatric Anesthesia Provider Part II
Volume: 1 Year: 2022
Author(s): Dinesh K. Choudhry,Kumar G. Belani
Doi: 10.2174/9789815036213122010013

Congenital Disorders of Glycosylation (CDG): Update and Perspectives

Journal: Current Pediatric Reviews
Volume: 2 Issue: 4 Year: 2006 Page: 323-330
Author(s): Renate Zeevaert, Els Schollen, Hubert Carchon, Gert Matthijs, Jaak Jaeken

Advanced Echocardiographic Imaging of the Congenitally Malformed Heart

Journal: Current Cardiology Reviews
Volume: 9 Issue: 3 Year: 2013 Page: 241-252
Author(s): Black D,Vettukattil J

Case Report

A 3-Year-Old Boy with an Xp21 Deletion Syndrome: A Case Report

Journal: Endocrine, Metabolic & Immune Disorders - Drug Targets
Volume: 22 Issue: 8 Year: 2022 Page: 881-887
Author(s): Farzaneh Hosseini Gharalari

The Ryanodine Receptor: A Pivotal Ca2+ Regulatory Protein and Potential Therapeutic Drug Target

Journal: Current Drug Targets
Volume: 12 Issue: 5 Year: 2011 Page: 709-723
Author(s): Angela F. Dulhunty, Marco G. Casarotto, Nicole A. Beard

Molecular Mechanisms of Inherited Arrhythmias

Journal: Current Genomics
Volume: 9 Issue: 3 Year: 2008 Page: 160-168
Author(s): Cordula M. Wolf, Charles I. Berul

Infants and Children with Tachycardia: Natural History and Drug Administration

Journal: Current Pharmaceutical Design
Volume: 14 Issue: 8 Year: 2008 Page: 743-752
Author(s): Peter P. Karpawich, Michael D. Pettersen, Pooja Gupta, Nishant Shah

Phenotyping and Genotyping of the Ryanodine Receptor-Associated Genetic Diseases Using Peripheral Lymphocytes

Journal: Current Pharmacogenomics
Volume: 2 Issue: 2 Year: 2004 Page: 203-208
Author(s): Yoshitatsu Sei, Sheila M. Muldoon

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