Associated Papers
Statistical Genetics of DMD Gene Mutations in a Kazakhstan Cohort: MLPA/NGS Variant Validation and Genotype-Phenotype Modelling.
Moldakaryzova A et al.
Genes, 2025
Brain Matters in Duchenne Muscular Dystrophy: DMD Mutation Sites and Their Association with Neurological Comorbidities Through Isoform Impairment.
Barbarii T et al.
Genes, 2025
A retrospective cohort study and review of the literature about germline mosaicism in Duchenne/Becker muscular dystrophy prenatal counseling: How to estimate the recurrence risk in clinical settings?
Verebi C et al.
Journal of Genetic Counseling, 2025
Comprehensive analysis of 2097 patients with dystrophinopathy based on a database from 2011 to 2021.
Zhao L et al.
Orphanet Journal of Rare Diseases, 2024
A single NGS-based assay covering the entire genomic sequence of the DMD gene facilitates diagnostic and newborn screening confirmatory testing.
Nallamilli BRR et al.
Human Mutation, 2021
Clinical and genetic spectra in patients with dystrophinopathy in Korea: A single-center study.
Yun U et al.
Plos One, 2021
Genotype and age at diagnosis in Thai boys with Duchenne muscular dystrophy (DMD).
Yamputchong P et al.
Neuromuscular Disorders : Nmd, 2020
Clinical and genetic characteristics of female dystrophinopathy carriers.
Zhong J et al.
Molecular Medicine Reports, 2019
DP71 and SERCA2 alteration in human neurons of a Duchenne muscular dystrophy patient.
Ruggieri S et al.
Stem Cell Research & Therapy, 2019
Normal and altered pre-mRNA processing in the DMD gene.
Tuffery-Giraud S et al.
Human Genetics, 2017
MLPA-based genotype-phenotype analysis in 1053 Chinese patients with DMD/BMD.
Yang J et al.
Bmc Medical Genetics, 2013
Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center.
Takeshima Y et al.
Journal of Human Genetics, 2010
One hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing high-performance liquid chromatography.
Torella A et al.
The Journal of Molecular Diagnostics : Jmd, 2010
Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression.
Daoud F et al.
Human Molecular Genetics, 2009
A different spectrum of DMD gene mutations in local Chinese patients with Duchenne/Becker muscular dystrophy.
Lo IF et al.
Chinese Medical Journal, 2006
The role of muscle biopsy in analysis of the dystrophin gene in Duchenne muscular dystrophy: experience of a national referral centre.
Tuffery-Giraud S et al.
Neuromuscular Disorders : Nmd, 2004
Prevalence and Characteristics of Chinese Patients With Duchenne and Becker Muscular Dystrophy: A Territory Wide Collaborative Study in Hong Kong.
Chan SHS et al.
Child Neurology Open, 0