Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center.
about
Current and emerging treatment strategies for Duchenne muscular dystrophyDMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype CorrelationsTargeted sequencing of the human X chromosome exome.Categorization of 77 dystrophin exons into 5 groups by a decision tree using indexes of splicing regulatory factors as decision markers.Screening of Duchenne muscular dystrophy (DMD) mutations and investigating its mutational mechanism in Chinese patients.A comprehensive database of Duchenne and Becker muscular dystrophy patients (0-18 years old) in East ChinaThree novel serum biomarkers, miR-1, miR-133a, and miR-206 for Limb-girdle muscular dystrophy, Facioscapulohumeral muscular dystrophy, and Becker muscular dystrophy.Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes.Long-term efficacy of systemic multiexon skipping targeting dystrophin exons 45-55 with a cocktail of vivo-morpholinos in mdx52 miceWhole dystrophin gene analysis by next-generation sequencing: a comprehensive genetic diagnosis of Duchenne and Becker muscular dystrophy.Early-progressive dilated cardiomyopathy in a family with Becker muscular dystrophy related to a novel frameshift mutation in the dystrophin gene exon 27Clinical phenotypes as predictors of the outcome of skipping around DMD exon 45.Next-generation sequencing discloses a nonsense mutation in the dystrophin gene from long preserved dried umbilical cord and low-level somatic mosaicism in the proband mother.Deletion of Dystrophin In-Frame Exon 5 Leads to a Severe Phenotype: Guidance for Exon Skipping Strategies.Characterization and Functional Analysis of Extracellular Vesicles and Muscle-Abundant miRNAs (miR-1, miR-133a, and miR-206) in C2C12 Myocytes and mdx MiceSurvival in Duchenne muscular dystrophy.Characteristics of Japanese Duchenne and Becker muscular dystrophy patients in a novel Japanese national registry of muscular dystrophy (Remudy).Multi-exon Skipping Using Cocktail Antisense Oligonucleotides in the Canine X-linked Muscular Dystrophy.Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations.'Double trouble': diagnostic challenges in Duchenne muscular dystrophy in patients with an additional hereditary skeletal dysplasiaCADD score has limited clinical validity for the identification of pathogenic variants in noncoding regions in a hereditary cancer panel.Antisense suppression of donor splice site mutations in the dystrophin gene transcript.Phenotypic contrasts of Duchenne Muscular Dystrophy in women: Two case reports.Differences in carrier frequency between mothers of Duchenne and Becker muscular dystrophy patients.Eteplirsen in the treatment of Duchenne muscular dystrophyLOX-1 and Its Splice Variants: A New Challenge for Atherosclerosis and Cancer-Targeted Therapies.Exon skipping for nonsense mutations in Duchenne muscular dystrophy: too many mutations, too few patients?Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan.RNA mis-splicing in disease.Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center.Prenatal diagnosis of Duchenne muscular dystrophy in 131 Chinese families with dystrophinopathy.2'-O-Methyl RNA/Ethylene-Bridged Nucleic Acid Chimera Antisense Oligonucleotides to Induce Dystrophin Exon 45 Skipping.Faulty RNA splicing: consequences and therapeutic opportunities in brain and muscle disorders.Deep intronic mutations and human disease.Normal and altered pre-mRNA processing in the DMD gene.Target resequencing of neuromuscular disease-related genes using next-generation sequencing for patients with undiagnosed early-onset neuromuscular disorders.Haplotype-based approach for noninvasive prenatal tests of Duchenne muscular dystrophy using cell-free fetal DNA in maternal plasma.DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy.Duchenne/Becker muscular dystrophy: A report on clinical, biochemical, and genetic study in Gujarat population, IndiaDistribution of dystrophin gene deletions in a Chinese population.
P2860
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P2860
Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center.
description
2010 nî lūn-bûn
@nan
2010年の論文
@ja
2010年学术文章
@wuu
2010年学术文章
@zh
2010年学术文章
@zh-cn
2010年学术文章
@zh-hans
2010年学术文章
@zh-my
2010年学术文章
@zh-sg
2010年學術文章
@yue
2010年學術文章
@zh-hant
name
Mutation spectrum of the dystr ...... one Japanese referral center.
@en
Mutation spectrum of the dystr ...... one Japanese referral center.
@nl
type
label
Mutation spectrum of the dystr ...... one Japanese referral center.
@en
Mutation spectrum of the dystr ...... one Japanese referral center.
@nl
prefLabel
Mutation spectrum of the dystr ...... one Japanese referral center.
@en
Mutation spectrum of the dystr ...... one Japanese referral center.
@nl
P2093
P2860
P356
P1476
Mutation spectrum of the dystr ...... one Japanese referral center.
@en
P2093
Hiroyuki Awano
Hisahide Nishio
Mariko Yagi
Masafumi Matsuo
Yasuhiro Takeshima
Yo Okizuka
Yumiko Yamauchi
Zhujun Zhang
P2860
P2888
P304
P356
10.1038/JHG.2010.49
P577
2010-05-20T00:00:00Z