RYR1 Myopathy
 

• Identification of drug modifiers for RYR1-related myopathy using a multi-species discovery pipeline, Volpatti, 2021

• Nox4 - RyR1 - Nox2: Regulators of micro-domain signaling in skeletal muscle, Cully, 2021

• A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course, Biancalana, 2021

• A novel homozygous variant of RYR1 p.Ala3072Asp in a neonate with dusty core disease: A new entity with clinicopathological implications, Gaspar, 2021

• The neuromuscular and multisystem features of RYR1-related malignant hyperthermia and rhabdomyolysis: A study protocol, Bersselaar, 2021

• RYR1 variant c.38T>G, p.Leu13Arg causes hypersensitivity of the ryanodine receptor-1 and is pathogenic for malignant hyperthermia, van den Bersselaar, 2021

• Early Findings in Neonatal Cases of RYR1–Related Congenital Myopathies, Mauri, 2021

• Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature, Lawal, 2020

• An integration-free iPSC line SDQLCHi025-A from a girl with multiminicore disease carrying compound heterozygote mutations in RYR1 gene, Zhang, 2020

• Regulatory mechanisms of ryanodine receptor/Ca release channel revealed by recent advancements in structural studies, Ogawa, 2020

• Randomized controlled trial of N-acetylcysteine therapy for RYR1-related myopathies, Todd, 2020

• iNOS is not responsible for RyR1 S-nitrosylation in mdx mice with truncated dystrophin, Nogami, 2020

• Structure and Function of the Human Ryanodine Receptors and Their Association with Myopathies-Present State, Challenges, and Perspectives, Bauerová-Hlinková, 2020

• Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature, Lawal

• In vivo RyR1 reduction in muscle triggers a core-like myopathy, Pelletier, 2020

• Core myopathies – a short review, Topaloglu, 2020

• Dominant or recessive mutations in the RYR1 gene causing central core myopathy in Brazilian patients, Leao, 2020

• Structure and Function of the Human Ryanodine Receptors and Their Association with Myopathies—Present State, Challenges, and Perspectives, Bauerova-Hinkova, 2020

• Adaptive thermogenesis enhances the life-threatening response to heat in mice with an Ryr1 mutation, Wang, 2020

• Bi-allelic Expression of the RyR1 p.A4329D Mutation Decreases Muscle Strength in Slow- Twitch Muscles in Mice, Elbaz, 2020

• Functional impairments, fatigue and quality of life in RYR1-related myopathies: A questionnaire study, van Ruitenbeek, 2020

• Severe Congenital RYR1-associated Myopathy Complicated With Atrial Tachycardia and Sinus Node Dysfunction: A Case Report, Hayakawa, 2020

• Bayesian modeling to predict malignant hyperthermia susceptibility and pathogenicity of RYR1, CACNA1S and STAC3 variants, Sadhasivam, 2019

• Preclinical model systems of ryanodine receptor 1-related myopathies and malignant hyperthermia: a comprehensive scoping review of works published 1990– 2019, Lawal

• Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum, Alkhuraizi, 2020

• Intracellular calcium leak as a therapeutic target for RYR1-related myopathies, Kushnir, 2020

• A novel homozygous variant of RYR1 p.Ala3072Asp in a neonate with dusty core disease: A new entity with clinicopathologica implications, Gaspar, 2020

• Molecular basis of impaired extraocular muscle function in a mouse model of congenital myopathy due to compound heterozygous Ryr1 mutations, Eckhardt, 2020

• Randomized controlled trial of N-acetylcysteine therapy for RYR1 related myopathies, Todd, 2020

• Quantitative RyR1 reduction and loss of calcium sensitivity of RyR1Q1970fsX16+A4329D cause cores and loss of muscle strength, Elbaz, 2019

• Quantitative reduction of RyR1 protein caused by a single-allele frameshift mutation in RYR1 ex36 impairs the strength of adult skeletal muscle fibres, Elbaz, 2019

• Excitation-contraction coupling in skeletal muscle: recent progress and unanswered questions, Shishmarev, 2019

• Reliability and Validity of Self-Report Questionnaires as Indicators of Fatigue in RYR1-Related Disorders, Kuo, 2019

• Use of Fatigue Index as a Measure of Local Muscle Fatigability in Ryanodine Receptor Isoform Related Myopathies, Witherspoon 2019

• Severe congenital RYR1-associated myopathy complicated with atrial tachycardia and sinus node dysfunction: a case report, Hayakawa, 2019

• RYR1 Sequence Variants in Myopathies Expression and Functional Studies in Two Families, Zullo, 2019

• Parental mosaicism in RYR1-related Central Core Disease, Marks, 2019

• Motor function performance in individuals with RYR1‐related myopathies, Whitherspoon, 2019

• Bayesian modeling to predict malignant hyperthermia susceptibility and pathogenicity of RYR1, CACNA1S and STAC3 variants, Sadhasivam, 2019

• RYR1 and CACNA1S genetic variants identified with statin associated muscle symptoms, Isackson, 2019

• Genetic and functional analysis of the RYR1 mutation p.Thr84Met revealed a susceptibility to malignant hyperthermia, Kondo, 2019

• Malignant hyperthermia with RYR1 novel missense mutation, Kiatachai, 2019

• Functional Characterization of Cterminal Ryanodine Receptor 1 Variants Associated with Central Core Disease or Malignant Hyperthermia, Parker, 2019

• RYR1 Sequence Variants in Myopathies: Expression and Functional Studies in Two Families, Zullo, 2019

• A central core disease mutation in the Ca binding site of skeletal muscle ryanodine receptor impairs single channel regulation, Chirasani, 2019

• Functional Electrical Stimulation: A Possible Strategy to Improve Muscle Function in Central Core Disease?, Iodice, 2019

• Simvastatin activates single skeletal RyR1 channels but exerts more complex regulation of the cardiac RyR2 isoform, Venturi, 2019

• Mouse model of severe recessive RYR1-related myopathy, 2019, Brrennan

• 6minute walk test as a measure of disease progression and fatigability in a cohort of individuals with RYR1 related myopathies, 2019, Wihterspoon

• Ryanodine Receptor Related Myopathies: Diagnostic and Therapeutic Approaches, 2019, Lawal

• Idiopathic hyperCKemia and malignant hyperthermia susceptibility, Santos, 2018

• 'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies, Garibaldi, 2018

• 6-minute walk test as a measure of disease progression and fatigability in a cohort of individuals with RYR1-related myopathies, Witherspoon, 2018

•  Central Core Myopathy with Sutophagy, Cotta, 2018

• 6-minute walk test as a measure of disease progression and fatigability in a cohort of individuals with RYR1-related myopathies, Witherspoon, 2018

• Correlation of phenotype with genotype and protein structure in RYR1-related disorders, Todd, 2018

• A Rare Case of Severe Congenital RYR1-Associated Myopathy, Laforgia, 2018

• Novel Variants in Individuals with RYR1-Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings, Todd, 2018 

• Malignant Hyperthermia and Ryanodine Receptor Type 1 Gene RyR1) Mutation in a Family in Singapore, Li, 2018

• Muscular MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity, Tordjman, 2018 

• TRPV1 variants impair intracellular Ca2+ signaling and may confer susceptibility to malignant hyperthermia, Abeele, 2018 

• A comprehensive review of malignant hyperthermia: Preventing further fatalities in orthopedic surgery, Smith, 2018

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