Novel excitation-contraction uncoupled RYR1 mutations in patients with central core disease.
about
Critical Role of Intracellular RyR1 Calcium Release Channels in Skeletal Muscle Function and DiseaseThe couplonopathies: A comparative approach to a class of diseases of skeletal and cardiac muscle.Oxidative stress, mitochondrial damage, and cores in muscle from calsequestrin-1 knockout miceRYR1-related myopathies: a wide spectrum of phenotypes throughout life.Comparison of pathogenicity prediction tools on missense variants in RYR1 and CACNA1S associated with malignant hyperthermiaFunctional Characterization of C-terminal Ryanodine Receptor 1 Variants Associated with Central Core Disease or Malignant HyperthermiaAging Effects of Caenorhabditis elegans Ryanodine Receptor Variants Corresponding to Human Myopathic Mutations.Next generation sequencing reveals ryanodine receptor 1 mutations in a Chinese central core disease cohort.Muscle MRI in pediatrics: clinical, pathological and genetic correlation.Correlation of phenotype with genotype and protein structure in RYR1-related disorders
P2860
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P2860
Novel excitation-contraction uncoupled RYR1 mutations in patients with central core disease.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
Novel excitation-contraction u ...... nts with central core disease.
@ast
Novel excitation-contraction u ...... nts with central core disease.
@en
type
label
Novel excitation-contraction u ...... nts with central core disease.
@ast
Novel excitation-contraction u ...... nts with central core disease.
@en
prefLabel
Novel excitation-contraction u ...... nts with central core disease.
@ast
Novel excitation-contraction u ...... nts with central core disease.
@en
P2093
P2860
P1476
Novel excitation-contraction u ...... nts with central core disease.
@en
P2093
Alexander Kraev
Ann E Rossi
David H Maclennan
Elena Zvaritch
Hilal Zaid
Natalia Kraeva
Robert T Dirksen
Sanjeewa A Goonasekera
Sheila Riazi
Wanda Frodis
P2860
P304
P356
10.1016/J.NMD.2012.08.007
P577
2012-11-24T00:00:00Z