Associated Papers
Muscle involvement in women carrying pathogenic DMD gene variants: A 6.5-year follow-up study.
Lyu Z et al.
Journal of Neuromuscular Diseases, 2026
Brain Matters in Duchenne Muscular Dystrophy: DMD Mutation Sites and Their Association with Neurological Comorbidities Through Isoform Impairment.
Barbarii T et al.
Genes, 2025
Next-generation sequencing for pediatric-onset neuromuscular disorders unresolved by conventional diagnostic methods.
Kulsirichawaroj P et al.
Pediatric Research, 2025
Specificities of the DMD Point Variant Spectrum in Russian Patients With Duchenne/Becker Muscular Dystrophy.
Zinina E et al.
Clinical Genetics, 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
Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.
Sheth J et al.
Orphanet Journal of Rare Diseases, 2024
Utilisation of exome sequencing for muscular disorders in Thai paediatric patients: diagnostic yield and mutational spectrum.
Summa S et al.
Scientific Reports, 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
Genetic Analysis of Forty MLPA-Negative Duchenne Muscular Dystrophy Patients by Whole-Exome Sequencing.
Zamani GR et al.
Journal of Molecular Neuroscience : Mn, 2022
Early Morphological Changes of the Rectus Femoris Muscle and Deep Fascia in Ullrich Congenital Muscular Dystrophy.
Sabatelli P et al.
International Journal of Environmental Research and Public Health, 2022
Efficient precise in vivo base editing in adult dystrophic mice.
Xu L et al.
Nature Communications, 2021
Dual molecular diagnoses in a neurometabolic specialty clinic.
Hannah-Shmouni F et al.
American Journal of Medical Genetics. Part A, 2021
Theragnosis for Duchenne Muscular Dystrophy.
Luce L et al.
Frontiers in Pharmacology, 2021
Clinical and genetic spectra in patients with dystrophinopathy in Korea: A single-center study.
Yun U et al.
Plos One, 2021
Quantitative Muscle MRI and Clinical Findings in Women With Pathogenic Dystrophin Gene Variants.
Fornander F et al.
Frontiers in Neurology, 2021
Genotype and age at diagnosis in Thai boys with Duchenne muscular dystrophy (DMD).
Yamputchong P et al.
Neuromuscular Disorders : Nmd, 2020
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
Clinical and genetic characteristics of female dystrophinopathy carriers.
Zhong J et al.
Molecular Medicine Reports, 2019
A retrospective analysis of 237 Chinese families with Duchenne muscular dystrophy history and strategies of prenatal diagnosis.
Xu Y et al.
Journal of Clinical Laboratory Analysis, 2018
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
DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy.
Guo R et al.
Journal of Human Genetics, 2015
[Genetic diagnosis for a family without exonic deletions and duplications of dystrophin gene].
Li T et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2015
A comprehensive database of Duchenne and Becker muscular dystrophy patients (0-18 years old) in East China.
Li X et al.
Orphanet Journal of Rare Diseases, 2015
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
A population-based study of dystrophin mutations in Canada.
Mah JK et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 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
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
Point mutations in Czech DMD/BMD patients and their phenotypic outcome.
Sedlácková J et al.
Neuromuscular Disorders : Nmd, 2009
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
Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase.
Tuffery-Giraud S et al.
Human Mutation, 2009
Dystrophin nonsense mutations can generate alternative rescue transcripts in lymphocytes.
Nishiyama A et al.
Annals of Human Genetics, 2008
Small mutations of the DMD gene in Taiwanese families.
Hwa HL et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2008
Mutation rates in the dystrophin gene: a hotspot of mutation at a CpG dinucleotide.
Buzin CH et al.
Human Mutation, 2005
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
DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients.
Hofstra RM et al.
Human Mutation, 2004
A possible missense mutation detected in the dystrophin gene by Double-Strand Conformation Analysis (DSCA).
Saad FA et al.
Neuromuscular Disorders : Nmd, 1994
Mutational spectrum of Duchenne muscular dystrophy in Spain: Study of 284 cases.
Vieitez I et al.
Neurologia (barcelona, Spain), 0