Associated Papers
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
Investigation of genotype-phenotype and familial features of Turkish dystrophinopathy patients.
Ozkalayci H et al.
Neurogenetics, 2024
Higher Prevalence of Nonsense Pathogenic DMD Variants in a Single-Center Cohort from Brazil: A Genetic Profile Study That May Guide the Choice of Disease-Modifying Treatments.
Braga VLL et al.
Brain Sciences, 2023
NGS-based targeted sequencing identified six novel variants in patients with Duchenne/Becker muscular dystrophy from southwestern China.
Tang F et al.
Bmc Medical Genomics, 2023
2-Guanidino-quinazoline promotes the readthrough of nonsense mutations underlying human genetic diseases.
Bidou L et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
Efficient precise in vivo base editing in adult dystrophic mice.
Xu L et al.
Nature Communications, 2021
Next-Generation Sequencing in a Cohort of Asian Indian Patients with the Duchenne Muscular Dystrophy Phenotype: Diagnostic Yield and Mutation Spectrum.
Nerakh G et al.
Journal of Pediatric Genetics, 2021
Theragnosis for Duchenne Muscular Dystrophy.
Luce L et al.
Frontiers in Pharmacology, 2021
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Töpf A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Genotypes and Phenotypes of DMD Small Mutations in Chinese Patients With Dystrophinopathies.
Wang L et al.
Frontiers in Genetics, 2019
Comprehensive genetic characteristics of dystrophinopathies in China.
Ma P et al.
Orphanet Journal of Rare Diseases, 2018
Cardiac Dysfunction in Duchenne Muscular Dystrophy Is Less Frequent in Patients With Mutations in the Dystrophin Dp116 Coding Region Than in Other Regions.
Yamamoto T et al.
Circulation. Genomic and Precision Medicine, 2018
Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center.
Cho A et al.
Muscle & Nerve, 2017
MLPA analysis of an Argentine cohort of patients with dystrophinopathy: Association of intron breakpoints hot spots with STR abundance in DMD gene.
Luce LN et al.
Journal of the Neurological Sciences, 2016
Evaluation of point mutations in dystrophin gene in Iranian Duchenne and Becker muscular dystrophy patients: introducing three novel variants.
Haghshenas M et al.
Journal of Genetics, 2016
Pitfalls of Multiple Ligation-Dependent Probe Amplifications in Detecting DMD Exon Deletions or Duplications.
Kim MJ et al.
The Journal of Molecular Diagnostics : Jmd, 2016
DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy.
Guo R et al.
Journal of Human Genetics, 2015
DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations.
Juan-Mateu J et al.
Plos One, 2015
Molecular analysis of the dystrophin gene in 407 Chinese patients with Duchenne/Becker muscular dystrophy by the combination of multiplex ligation-dependent probe amplification and Sanger sequencing.
Chen WJ et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2013
Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes.
Juan-Mateu J et al.
Plos One, 2013
Phase 2a study of ataluren-mediated dystrophin production in patients with nonsense mutation Duchenne muscular dystrophy.
Finkel RS et al.
Plos One, 2013
Dystrophin gene mutation analysis in Iranian males and females using multiplex polymerase chain reaction and multiplex ligation-dependent probe amplification methods.
Khordadpoor-Deilamani F et al.
Genetic Testing and Molecular Biomarkers, 2011
Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing.
Magri F et al.
Bmc Medical Genetics, 2011
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
Dystrophin gene mutation location and the risk of cognitive impairment in Duchenne muscular dystrophy.
Taylor PJ et al.
Plos One, 2010
Point mutations in Czech DMD/BMD patients and their phenotypic outcome.
Sedlácková J et al.
Neuromuscular Disorders : Nmd, 2009
Small mutations detected by multiplex ligation-dependent probe amplification of the dystrophin gene.
Okizuka Y et al.
Genetic Testing and Molecular Biomarkers, 2009
Introducing sense into nonsense in treatments of human genetic diseases.
Linde L et al.
Trends in Genetics : Tig, 2008
[Detection of new mutations in the dystrophin gene by denaturing high-performance liquid chromatography].
Chen YN et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2007
Simultaneous MLPA-based multiplex point mutation and deletion analysis of the dystrophin gene.
Bunyan DJ et al.
Molecular Biotechnology, 2007
A different spectrum of DMD gene mutations in local Chinese patients with Duchenne/Becker muscular dystrophy.
Lo IF et al.
Chinese Medical Journal, 2006
Strategy for comprehensive molecular testing for Duchenne and Becker muscular dystrophies.
Stockley TL et al.
Genetic Testing, 2006
Mutation rates in the dystrophin gene: a hotspot of mutation at a CpG dinucleotide.
Buzin CH et al.
Human Mutation, 2005
Improved molecular diagnosis of dystrophin gene mutations using the multiplex ligation-dependent probe amplification method.
Schwartz M et al.
Genetic Testing, 2004
Rapid direct sequence analysis of the dystrophin gene.
Flanigan KM et al.
American Journal of Human Genetics, 2003
Mutational spectrum of Duchenne muscular dystrophy in Spain: Study of 284 cases.
Vieitez I et al.
Neurologia (barcelona, Spain), 0
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