Utero-placental calcium and magnesium ion channels: A systematic review of obstetric implications of their alterations. [PDF]
Ndinganire G +17 more
europepmc +1 more source
Mitochondria-sarcoplasmic reticulum crosstalk as a modulator of skeletal muscle mass. [PDF]
Casuso RA.
europepmc +1 more source
Statins, skeletal muscle, and ryanodine receptor activation: resolving a 30-year mystery behind statin myotoxicity. [PDF]
Santulli G.
europepmc +1 more source
Clinical and Genetic Characterization of a Novel RYR1 Variant (p.Gln474His) in Malignant Hyperthermia Susceptibility. [PDF]
Tracy E +4 more
europepmc +1 more source
A proposed North American approach for genetic testing of individuals at risk for malignant hyperthermia. [PDF]
Riazi S +3 more
europepmc +1 more source
Astrocyte-derived miR-124 impairs glioma cell volume regulation and migration by reducing Ca<sup>2+</sup>-dependent IK channel expression and activation. [PDF]
Catalano M +5 more
europepmc +1 more source
Cloning and characterization of intermediate Homer1E of human skeletal muscle. [PDF]
Furlan S +10 more
europepmc +1 more source
Assessing the pathogenicity of RYR1 variants in malignant hyperthermia [PDF]
Background: Missense variants in the ryanodine receptor 1 gene (RYR1) are associated with malignant hyperthermia but only a minority of these have met criteria for use in predictive DNA diagnosis.
Paul D Allen, P M Hopkins, P D Allen
exaly +6 more sources
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CONGENITAL MYOPATHIES: GENERAL AND RYR1
Neuromuscular Disorders, 2018M. Schülke +3 more
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Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies. [PDF]
Dominant mutations in the skeletal muscle ryanodine receptor (RYR1) gene are well-recognized causes of both malignant hyperthermia susceptibility (MHS) and central core disease (CCD).
Sonia Messina +2 more
exaly +2 more sources

