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

Mutated p.4894 RyR1 Function Related to Malignant Hyperthermia and Congenital Neuromuscular Disease with Uniform Type 1 Fiber (CNMDU1)

(2011) Toshiaki Haraki et al.   ANESTHESIA AND ANALGESIA

Prevalence of congenital myopathies in a representative pediatric united states population

(2011) Kimberly Amburgey et al.   ANNALS OF NEUROLOGY

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

(2011) Andrea Klein   ARCHIVES OF NEUROLOGY

Ryanodine receptor type 1 gene mutations found in the Canadian malignant hyperthermia population

(2011) Natasha Kraeva et al.   Canadian Journal of Anesthesia-Journal canadien d anesthesie

Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms

(2011) Sofia T. Duarte et al.   MUSCLE & NERVE

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

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

The I4895T mutation in the type 1 ryanodine receptor induces fiber-type specific alterations in skeletal muscle that mimic premature aging

(2010) Simona Boncompagni et al.   AGING CELL

Muscle Biopsy and In Vitro Contracture Test in Subjects with Idiopathic HyperCKemia

(2010) Alessandro Malandrini et al.   ANESTHESIOLOGY

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

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

Novel missense mutations and unexpected multiple changes of RYR1 gene in 75 malignant hyperthermia families

(2010) A Tammaro et al.   CLINICAL GENETICS

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

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

Central core myopathy with RYR1 mutation masks 5q Spinal Muscular Atrophy

(2010) R. Pandey et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Enhanced excitation-coupled Ca2+ entry induces nuclear translocation of NFAT and contributes to IL-6 release from myotubes from patients with central core disease

(2010) Susan Treves et al.   HUMAN MOLECULAR GENETICS

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

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

Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene

(2010) Haiyan Zhou et al.   NEUROMUSCULAR DISORDERS

Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization

(2010) J. A. Bevilacqua et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Genetic variation in RYR1 and malignant hyperthermia phenotypes

(2009) D. Carpenter et al.   BRITISH JOURNAL OF ANAESTHESIA

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

Increasing the number of diagnostic mutations in malignant hyperthermia

(2009) Soledad Levano et al.   HUMAN MUTATION

Joint hypermobility as a distinctive feature in the differential diagnosis of myopathies

(2009) N. C. Voermans et al.   JOURNAL OF NEUROLOGY

ARYR1mutation associated with recessive congenital myopathy and dominant malignant hyperthermia in Asian families

(2009) Danielle Carpenter et al.   MUSCLE & NERVE

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

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

(2009) Nicole Monnier et al.   NEUROMUSCULAR DISORDERS

Congenital myopathies

(2008) Caroline A Sewry et al.   CURRENT OPINION IN NEUROLOGY

Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores

(2008) Nicole Monnier et al.   HUMAN MUTATION

A Double Mutation of the Ryanodine Receptor Type 1 Gene in a Malignant Hyperthermia Family with Multiminicore Myopathy

(2008) Seul-Ki Jeong et al.   Journal of Clinical Neurology

KING-DENBOROUGH SYNDROME CAUSED BY A NOVEL MUTATION IN THE RYANODINE RECEPTOR GENE

(2008) C. E. D'Arcy et al.   NEUROLOGY