RYR1 and CACNA1S genetic variants identified with statin-associated muscle symptoms

REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants

(2016) Nilah M. Ioannidis et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Comparison of pathogenicity prediction tools on missense variants in RYR1 and CACNA1S associated with malignant hyperthermia

(2016) A.H. Schiemann et al.   BRITISH JOURNAL OF ANAESTHESIA

Identification of variants of the ryanodine receptor type 1 in patients with exertional heat stroke and positive response to the malignant hyperthermia in vitro contracture test

(2016) N Roux-Buisson et al.   BRITISH JOURNAL OF ANAESTHESIA

Structural Basis for Gating and Activation of RyR1

(2016) Amédée des Georges et al.   CELL

Ryanodine receptors under the magnifying lens: Insights and limitations of cryo-electron microscopy and X-ray crystallography studies

(2016) Zhiguang Yuchi et al.   CELL CALCIUM

Next-generation sequencing in neuromuscular diseases

(2016) Stephanie Efthymiou et al.   CURRENT OPINION IN NEUROLOGY

Myosin myopathy with external ophthalmoplegia associated with a novel homozygous mutation inMYH2

(2016) Aurelio Hernández-Laín et al.   MUSCLE & NERVE

Mitochondrial dysfunction in myofibrillar myopathy

(2016) Amy E. Vincent et al.   NEUROMUSCULAR DISORDERS

RYR1-related rhabdomyolysis: A common but probably underdiagnosed manifestation of skeletal muscle ryanodine receptor dysfunction

(2016) N.C. Voermans et al.   REVUE NEUROLOGIQUE

Next-generation sequencing-based molecular diagnosis of neonatal hypotonia in Chinese Population

(2016) Yan Wang et al.   Scientific Reports

Next-generation Sequencing of RYR1 and CACNA1S in Malignant Hyperthermia and Exertional Heat Illness

(2015) Dorota Fiszer et al.   ANESTHESIOLOGY

GATM Polymorphism Associated with the Risk for Statin-Induced Myopathy Does Not Replicate in Case-Control Analysis of 715 Dyslipidemic Individuals

(2015) Jasmine A. Luzum et al.   Cell Metabolism

Statin-associated muscle symptoms: impact on statin therapy—European Atherosclerosis Society Consensus Panel Statement on Assessment, Aetiology and Management

(2015) Erik S. Stroes et al.   EUROPEAN HEART JOURNAL

Acute rhabdomyolysis and inflammation

(2015) Yamina Hamel et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Crystal structures of ryanodine receptor SPRY1 and tandem-repeat domains reveal a critical FKBP12 binding determinant

(2015) Zhiguang Yuchi et al.   Nature Communications

Novel pathogenic variants and genes for myopathies identified by whole exome sequencing

(2015) Jesse M. Hunter et al.   Molecular Genetics & Genomic Medicine

Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy

(2014) Sophie Nicole et al.   BRAIN

Recurrent rhabdomyolysis due to muscle β-enolase deficiency: very rare or underestimated?

(2014) Olimpia Musumeci et al.   JOURNAL OF NEUROLOGY

GATM locus does not replicate in rhabdomyolysis study

(2014) James S. Floyd et al.   NATURE

Structure of a mammalian ryanodine receptor

(2014) Ran Zalk et al.   NATURE

Structure of the rabbit ryanodine receptor RyR1 at near-atomic resolution

(2014) Zhen Yan et al.   NATURE

Architecture and conformational switch mechanism of the ryanodine receptor

(2014) Rouslan G. Efremov et al.   NATURE

Integrative Data Mining Highlights Candidate Genes for Monogenic Myopathies

(2014) Osorio Abath Neto et al.   PLoS One

Actionable, Pathogenic Incidental Findings in 1,000 Participants’ Exomes

(2013) Michael O. Dorschner et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Using Exome Data to Identify Malignant Hyperthermia Susceptibility Mutations

(2013) Stephen G. Gonsalves et al.   ANESTHESIOLOGY

Exome Sequencing Reveals Novel Rare Variants in the Ryanodine Receptor and Calcium Channel Genes in Malignant Hyperthermia Families

(2013) Jerry H. Kim et al.   ANESTHESIOLOGY

Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations

(2013) Homa Tajsharghi et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A statin-dependent QTL for GATM expression is associated with statin-induced myopathy

(2013) Lara M. Mangravite et al.   NATURE

Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis

(2013) N. Dlamini et al.   NEUROMUSCULAR DISORDERS

Congenital myopathies – Clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom

(2013) L. Maggi et al.   NEUROMUSCULAR DISORDERS

Genotype-phenotype correlations in recessive RYR1-related myopathies

(2013) Kimberly Amburgey et al.   Orphanet Journal of Rare Diseases

Variable Myopathic Presentation in a Single Family with Novel Skeletal RYR1 Mutation

(2013) Ruben Attali et al.   PLoS One

Disease mutations in the ryanodine receptor N-terminal region couple to a mobile intersubunit interface

(2013) Lynn Kimlicka et al.   Nature Communications

Stac3 is a component of the excitation–contraction coupling machinery and mutated in Native American myopathy

(2013) Eric J. Horstick et al.   Nature Communications

Mice with RyR1 mutation (Y524S) undergo hypermetabolic response to simvastatin

(2013) Mark Knoblauch et al.   Skeletal Muscle

A Combined Functional Annotation Score for Non-Synonymous Variants

(2012) Margarida C. Lopes et al.   HUMAN HEREDITY

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

(2012) Andrea Klein et al.   HUMAN MUTATION

Understanding Statin Use in America and Gaps in Patient Education (USAGE): An internet-based survey of 10,138 current and former statin users

(2012) Jerome D. Cohen et al.   Journal of Clinical Lipidology

ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome

(2012) Tobias Willer et al.   NATURE GENETICS

Discontinuation of statin therapy due to muscular side effects: A survey in real life

(2012) D. Rosenbaum et al.   NUTRITION METABOLISM AND CARDIOVASCULAR DISEASES

Improving the Assessment of the Outcome of Nonsynonymous SNVs with a Consensus Deleteriousness Score, Condel

(2011) Abel González-Pérez et al.   AMERICAN JOURNAL OF HUMAN GENETICS

SLCO1B1 haplotypes are not associated with atorvastatin-induced myalgia in Brazilian patients with familial hypercholesterolemia

(2011) Paulo Caleb Junior Lima Santos et al.   EUROPEAN JOURNAL OF CLINICAL PHARMACOLOGY

Genetic risk for malignant hyperthermia in non-anesthesia-induced myopathies

(2011) Georgirene D. Vladutiu et al.   MOLECULAR GENETICS AND METABOLISM

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

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

Association of common variants in the human eyes shut ortholog (EYS) with statin-induced myopathy: Evidence for additional functions of EYS

(2011) Paul J. Isackson et al.   MUSCLE & NERVE

Differential effect of the rs4149056 variant in SLCO1B1 on myopathy associated with simvastatin and atorvastatin

(2011) L R Brunham et al.   PHARMACOGENOMICS JOURNAL

Mutation in Exon 1f of PLEC, Leading to Disruption of Plectin Isoform 1f, Causes Autosomal-Recessive Limb-Girdle Muscular Dystrophy

(2010) Hulya Gundesli et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2010) A Tammaro et al.   CLINICAL GENETICS

The amino-terminal disease hotspot of ryanodine receptors forms a cytoplasmic vestibule

(2010) Ching-Chieh Tung et al.   NATURE

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

The role of CACNA1Sin predisposition to malignant hyperthermia

(2009) Danielle Carpenter et al.   BMC Medical Genetics

Cardiomyopathy: A Systematic Review of Disease-Causing Mutations in Myosin Heavy Chain 7 and Their Phenotypic Manifestations

(2009) R. Walsh et al.   CARDIOLOGY

Increasing the number of diagnostic mutations in malignant hyperthermia

(2009) Soledad Levano et al.   HUMAN MUTATION

Crystal Structures of the N-Terminal Domains of Cardiac and Skeletal Muscle Ryanodine Receptors: Insights into Disease Mutations

(2009) Paolo Antonio Lobo et al.   STRUCTURE

Calpain 3, the “gatekeeper” of proper sarcomere assembly, turnover and maintenance

(2008) Jacques S. Beckmann et al.   NEUROMUSCULAR DISORDERS

SLCO1B1Variants and Statin-Induced Myopathy — A Genomewide Study

(2008)   NEW ENGLAND JOURNAL OF MEDICINE