Oxidative stress and successful antioxidant treatment in models of RYR1-related myopathy

Prevalence of congenital myopathies in a representative pediatric united states population

(2011) Kimberly Amburgey et al.   ANNALS OF NEUROLOGY

Mitochondrial superoxide flashes: metabolic biomarkers of skeletal muscle activity and disease

(2011) Lan Wei et al.   FASEB JOURNAL

Integrative genomics identifies MCU as an essential component of the mitochondrial calcium uniporter

(2011) Joshua M. Baughman et al.   NATURE

RYR1 mutations are a common cause of congenital myopathies with central nuclei

(2010) J.M. Wilmshurst et al.   ANNALS OF NEUROLOGY

de novo RYR1 heterozygous mutation (I4898T) causing lethal core–rod myopathy in twins

(2010) Aurelio Hernandez-Lain et al.   European Journal of Medical Genetics

2′,7′-Dichlorodihydrofluorescein as a fluorescent probe for reactive oxygen species measurement: Forty years of application and controversy

(2010) Xiuping Chen et al.   FREE RADICAL RESEARCH

Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion

(2010) Nigel F. Clarke et al.   HUMAN MUTATION

Basal Bioenergetic Abnormalities in Skeletal Muscle from Ryanodine Receptor Malignant Hyperthermia-susceptible R163C Knock-in Mice

(2010) Cecilia Giulivi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy

(2010) Carlo Viscomi et al.   NATURE MEDICINE

Oxidative stress inSEPN1-related myopathy: From pathophysiology to treatment

(2009) Sandrine Arbogast et al.   ANNALS OF NEUROLOGY

Selenoproteins and Protection against Oxidative Stress: Selenoprotein N as a Novel Player at the Crossroads of Redox Signaling and Calcium Homeostasis

(2009) Sandrine Arbogast et al.   ANTIOXIDANTS & REDOX SIGNALING

Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population

(2009) Fiona L. M. Norwood et al.   BRAIN

Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources

(2009) Da Wei Huang et al.   Nature Protocols

First genomic rearrangement of the RYR1 gene associated with an atypical presentation of lethal neonatal hypotonia

(2009) Nicole Monnier et al.   NEUROMUSCULAR DISORDERS

Ca2+ dysregulation in Ryr1I4895T/wt mice causes congenital myopathy with progressive formation of minicores, cores, and nemaline rods

(2009) E. Zvaritch et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Loss of Myotubularin Function Results in T-Tubule Disorganization in Zebrafish and Human Myotubular Myopathy

(2009) James J. Dowling et al.   PLoS Genetics

RyR1 S-Nitrosylation Underlies Environmental Heat Stroke and Sudden Death in Y522S RyR1 Knockin Mice

(2008) William J. Durham et al.   CELL

Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm

(2008) S TREVES et al.   CURRENT OPINION IN PHARMACOLOGY

Unraveling RYR1 mutations and muscle biopsies

(2008) L. Morrison   NEUROLOGY

Bioinformatics enrichment tools: paths toward the comprehensive functional analysis of large gene lists

(2008) Da Wei Huang et al.   NUCLEIC ACIDS RESEARCH

Exercise-Induced Oxidative Stress: Cellular Mechanisms and Impact on Muscle Force Production

(2008) Scott K. Powers et al.   PHYSIOLOGICAL REVIEWS

Selenoprotein N is required for ryanodine receptor calcium release channel activity in human and zebrafish muscle

(2008) M. J. Jurynec et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Identification of Zebrafish Mutants Showing Alterations in Senescence-Associated Biomarkers

(2008) Shuji Kishi et al.   PLoS Genetics

Reactive oxygen species and fatigue-induced prolonged low-frequency force depression in skeletal muscle fibres of rats, mice and SOD2 overexpressing mice

(2007) Joseph D. Bruton et al.   JOURNAL OF PHYSIOLOGY-LONDON