RyR1 Deficiency in Congenital Myopathies Disrupts Excitation-Contraction Coupling

Ryanodine Receptors: Structure and Function

(2012) Filip Van Petegem   JOURNAL OF BIOLOGICAL CHEMISTRY

Calcitonin gene-related peptide restores disrupted excitation-contraction coupling in myotubes expressing central core disease mutations in RyR1

(2011) Ana Victoria Vega et al.   JOURNAL OF PHYSIOLOGY-LONDON

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

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

Orthograde dihydropyridine receptor signal regulates ryanodine receptor passive leak

(2011) J. M. Eltit et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Immortalized pathological human myoblasts: towards a universal tool for the study of neuromuscular disorders

(2011) Kamel Mamchaoui et al.   Skeletal Muscle

Identification and functional characterization of malignant hyperthermia mutation T1354S in the outer pore of the Cavα1S-subunit

(2010) Antonella Pirone et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

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

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

A report of fulminant malignant hyperthermia in a patient with a novel mutation of the CACNA1S gene

(2010) P. Jason Toppin et al.   Canadian Journal of Anesthesia-Journal canadien d anesthesie

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

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

RyR1-mediated Ca2+Leak and Ca2+Entry Determine Resting Intracellular Ca2+in Skeletal Myotubes

(2010) José M. Eltit et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Agonist-activated Ca 2+ influx occurs at stable plasma membrane and endoplasmic reticulum junctions

(2010) Susan Treves et al.   JOURNAL OF CELL SCIENCE

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

Myostatin reduces Akt/TORC1/p70S6K signaling, inhibiting myoblast differentiation and myotube size

(2009) Anne Ulrike Trendelenburg et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

Triadin Deletion Induces Impaired Skeletal Muscle Function

(2009) Sarah Oddoux et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A Structural Model of the Pore-Forming Region of the Skeletal Muscle Ryanodine Receptor (RyR1)

(2009) Srinivas Ramachandran et al.   PLoS Computational Biology

Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm

(2008) S TREVES et al.   CURRENT OPINION IN PHARMACOLOGY