Ryanodine receptor 1 ( RYR1 ) mutations in two patients with tubular aggregate myopathy

Pathological conformations of disease mutant Ryanodine Receptors revealed by cryo-EM

(2021) Kellie A. Woll et al.   Nature Communications

Calcium Release Channels: Structure and Function of IP3 Receptors and Ryanodine Receptors

(2021) Kellie A Woll et al.   PHYSIOLOGICAL REVIEWS

Pathophysiological Effects of Overactive STIM1 on Murine Muscle Function and Structure

(2021) Roberto Silva-Rojas et al.   Cells

Alteration of STIM1/Orai1-Mediated SOCE in Skeletal Muscle: Impact in Genetic Muscle Diseases and Beyond

(2021) Elena Conte et al.   Cells

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

(2020) Tokunbor A. Lawal et al.   Skeletal Muscle

Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum

(2019) Ebba Alkhunaizi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

‘Dusty core disease’ (DuCD): expanding morphological spectrum of RYR1 recessive myopathies

(2019) Matteo Garibaldi et al.   Acta Neuropathologica Communications

An unusual ryanodine receptor 1 (RYR1) phenotype

(2019) Manu Jokela et al.   NEUROLOGY

The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations

(2019) G. J. Knuiman et al.   JOURNAL OF NEUROLOGY

CRAC Channels And Disease – From Human CRAC Channelopathies And Animal Models To Novel Drugs

(2019) Stefan Feske   CELL CALCIUM

An Assessment of Penetrance and Clinical Expression of Malignant Hyperthermia in Individuals Carrying Diagnostic Ryanodine Receptor 1 Gene Mutations

(2019) Carlos A. Ibarra Moreno et al.   ANESTHESIOLOGY

Mission Impossible or Mission Futile?

(2019) Marie-Anne Shaw et al.   ANESTHESIOLOGY

Congenital myopathies: disorders of excitation–contraction coupling and muscle contraction

(2018) Heinz Jungbluth et al.   Nature Reviews Neurology

Atypical periodic paralysis and myalgia

(2018) Emma Matthews et al.   NEUROLOGY

Malignant hyperthermia, environmental heat stress, and intracellular calcium dysregulation in a mouse model expressing the p.G2435R variant of RYR1

(2018) J.R. Lopez et al.   BRITISH JOURNAL OF ANAESTHESIA

Gain-of-function mutations in STIM1 and ORAI1 causing tubular aggregate myopathy and Stormorken syndrome

(2018) Johann Böhm et al.   CELL CALCIUM

Correlation of phenotype with genotype and protein structure in RYR1-related disorders

(2018) Joshua J. Todd et al.   JOURNAL OF NEUROLOGY

Ryanodine Receptor 1-Related Myopathies: Diagnostic and Therapeutic Approaches

(2018) Tokunbor A. Lawal et al.   Neurotherapeutics

Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy

(2017) Virginia Barone et al.   HUMAN MUTATION

ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy

(2017) Johann Böhm et al.   HUMAN MUTATION

The structural basis of ryanodine receptor ion channel function

(2017) Gerhard Meissner   JOURNAL OF GENERAL PHYSIOLOGY

Structural Basis for Gating and Activation of RyR1

(2016) Amédée des Georges et al.   CELL

Genotype-Phenotype Correlations of Malignant Hyperthermia and Central Core Disease Mutations in the Central Region of the RYR1 Channel

(2016) Takashi Murayama et al.   HUMAN MUTATION

Tubular Aggregates and Cylindrical Spirals Have Distinct Immunohistochemical Signatures

(2016) Stefen Brady et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Diseases caused by mutations inORAI1andSTIM1

(2015) Rodrigo S. Lacruz et al.   Annals of the New York Academy of Sciences

RYR1-related myopathies: a wide spectrum of phenotypes throughout life

(2015) M. Snoeck et al.   EUROPEAN JOURNAL OF NEUROLOGY

Retrograde regulation of STIM1-Orai1 interaction and store-operated Ca2+ entry by calsequestrin

(2015) Limin Wang et al.   Scientific Reports

Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca2+ channels

(2014) Yukari Endo et al.   HUMAN MOLECULAR GENETICS

A Mutation in theCASQ1Gene Causes a Vacuolar Myopathy with Accumulation of Sarcoplasmic Reticulum Protein Aggregates

(2014) Daniela Rossi et al.   HUMAN MUTATION

A Dominant STIM1 Mutation Causes Stormorken Syndrome

(2014) Doriana Misceo et al.   HUMAN MUTATION

Triadopathies: An Emerging Class of Skeletal Muscle Diseases

(2014) James J. Dowling et al.   Neurotherapeutics

Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis

(2014) V. Nesin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers

(2013) Valeria Guglielmi et al.   MOLECULAR GENETICS AND METABOLISM

Genotype-phenotype correlations in recessive RYR1-related myopathies

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

Tubular aggregates in skeletal muscle: Just a special type of protein aggregates?

(2011) Stefano Schiaffino   NEUROMUSCULAR DISORDERS

Increased Store-Operated Ca2+ Entry in Skeletal Muscle with Reduced Calsequestrin-1 Expression

(2010) Xiaoli Zhao et al.   BIOPHYSICAL JOURNAL

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

Muscle Phosphoglycerate Mutase Deficiency Revisited

(2009) Ali Naini et al.   ARCHIVES OF NEUROLOGY

Genetic variation in RYR1 and malignant hyperthermia phenotypes

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