Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum.
about
Review of RyR1 pathway and associated pathomechanismsPathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focusDiagnostic approach to the congenital muscular dystrophies.Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndromeCongenital myopathies: Natural history of a large pediatric cohort.Novel pathogenic variants and genes for myopathies identified by whole exome sequencingCrystal structures of ryanodine receptor SPRY1 and tandem-repeat domains reveal a critical FKBP12 binding determinant.Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birthExpanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS.The neuromuscular differential diagnosis of joint hypermobility.Prenatal diagnosis of congenital myopathies and muscular dystrophies.RYR1-related myopathies: a wide spectrum of phenotypes throughout life.Diagnosis and etiology of congenital muscular dystrophy: We are halfway there.Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.Congenital myopathies: clinical phenotypes and new diagnostic tools.Physiology and pathophysiology of excitation-contraction coupling: the functional role of ryanodine receptor.Next generation sequencing reveals ryanodine receptor 1 mutations in a Chinese central core disease cohort.Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.Intra-familial variability associated with recessive RYR1 mutation diagnosed prenatally by exome sequencing.Novel Variants in Individuals with RYR1-Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings.A Rare Case of Severe Congenital RYR1-Associated Myopathy
P2860
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P2860
Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum.
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
2013年论文
@zh
2013年论文
@zh-cn
name
Severe congenital RYR1-associa ...... thologic and genetic spectrum.
@en
type
label
Severe congenital RYR1-associa ...... thologic and genetic spectrum.
@en
prefLabel
Severe congenital RYR1-associa ...... thologic and genetic spectrum.
@en
P2093
P2860
P1433
P1476
Severe congenital RYR1-associa ...... thologic and genetic spectrum.
@en
P2093
Carsten G Bönnemann
Diana Xerxes Bharucha-Goebel
Gihan Tennekoon
Jahannaz Dastgir
James J Dowling
Kristen Zukosky
Livija Medne
Mariarita Santi
Nicole Monnier
Perry B Shieh
P2860
P304
P356
10.1212/WNL.0B013E3182900380
P407
P577
2013-04-03T00:00:00Z