A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene

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

(2012) James J. Dowling et al.   BRAIN

Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies

(2012) Andrea Klein et al.   HUMAN MUTATION

Camptocormia as presenting sign in myofibrillar myopathy

(2012) Dimitri Renard et al.   NEUROMUSCULAR DISORDERS

Identical de novo Mutation in the Type 1 Ryanodine Receptor Gene Associated with Fatal, Stress-induced Malignant Hyperthermia in Two Unrelated Families

(2011) Linda Groom et al.   ANESTHESIOLOGY

Muscle Magnetic Resonance Imaging in Congenital Myopathies Due to Ryanodine Receptor Type 1 Gene Mutations

(2011) Andrea Klein   ARCHIVES OF NEUROLOGY

Ryanodine Receptor Oxidation Causes Intracellular Calcium Leak and Muscle Weakness in Aging

(2011) Daniel C. Andersson et al.   Cell Metabolism

Clinical utility gene card for: malignant hyperthermia

(2011) Henry Rosenberg et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

King–Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene

(2011) James J. Dowling et al.   NEUROMUSCULAR DISORDERS

Core Myopathies

(2011) Heinz Jungbluth et al.   Seminars in Pediatric Neurology

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

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

Camptocormia: the bent spine syndrome, an update

(2010) Thibaut Lenoir et al.   EUROPEAN SPINE JOURNAL

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

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

Bent spine syndrome (camptocormia): A retrospective study of 63 patients

(2010) Michel Laroche et al.   JOINT BONE SPINE

Oxidative stress inSEPN1-related myopathy: From pathophysiology to treatment

(2009) Sandrine Arbogast et al.   ANNALS OF NEUROLOGY

Mutation screening of the RYR1-cDNA from peripheral B-lymphocytes in 15 Swedish malignant hyperthermia index cases

(2009) M. Broman et al.   BRITISH JOURNAL OF ANAESTHESIA

The ryanodine receptor type 1 gene variants in African American men with exertional rhabdomyolysis and malignant hyperthermia susceptibility

(2009) N Sambuughin et al.   CLINICAL GENETICS

Late-onset axial myopathy with cores due to a novel heterozygous dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene

(2009) Heinz Jungbluth et al.   NEUROMUSCULAR DISORDERS