Pages that link to "Q37889772"
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The following pages link to Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms. (Q37889772):
Displaying 18 items.
- JP-45/JSRP1 variants affect skeletal muscle excitation-contraction coupling by decreasing the sensitivity of the dihydropyridine receptor (Q24297615) (← links)
- Malignant hyperthermia: a review (Q26799652) (← links)
- Next-generation Sequencing of RYR1 and CACNA1S in Malignant Hyperthermia and Exertional Heat Illness (Q35756769) (← links)
- Novel excitation-contraction uncoupled RYR1 mutations in patients with central core disease (Q36586052) (← links)
- Genotype-phenotype correlations in recessive RYR1-related myopathies (Q37114746) (← links)
- Core myopathies and malignant hyperthermia susceptibility: a review (Q38101594) (← links)
- RYR1-Related Myopathies: Clinical, Histopathologic and Genetic Heterogeneity Among 17 Patients from a Portuguese Tertiary Centre. (Q38749268) (← links)
- RYR1-related myopathies: a wide spectrum of phenotypes throughout life (Q39008908) (← links)
- Functional Characterization of C-terminal Ryanodine Receptor 1 Variants Associated with Central Core Disease or Malignant Hyperthermia (Q41781551) (← links)
- Next-Generation Sequencing to Diagnose Muscular Dystrophy, Rhabdomyolysis, and HyperCKemia (Q49574009) (← links)
- New massive parallel sequencing approach improves the genetic characterization of congenital myopathies (Q50883940) (← links)
- Next generation sequencing reveals ryanodine receptor 1 mutations in a Chinese central core disease cohort (Q50888603) (← links)
- Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies (Q57334263) (← links)
- RYR1 and CACNA1S genetic variants identified withf statin-associated muscle symptoms (Q57459744) (← links)
- 'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies (Q60920262) (← links)
- Malignant Hyperthermia (Q64082433) (← links)
- The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations (Q64267769) (← links)
- Next-generation sequencing approach to hyperCKemia: A 2-year cohort study (Q90089361) (← links)