Associated Papers
Brain Matters in Duchenne Muscular Dystrophy: DMD Mutation Sites and Their Association with Neurological Comorbidities Through Isoform Impairment.
Barbarii T et al.
Genes, 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
Correction of human nonsense mutation via adenine base editing for Duchenne muscular dystrophy treatment in mouse.
Jin M et al.
Molecular Therapy. Nucleic Acids, 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
263rd ENMC International Workshop: Focus on female carriers of dystrophinopathy: refining recommendations for prevention, diagnosis, surveillance, and treatment. Hoofddorp, The Netherlands, 13-15 May 2022.
Sarkozy A et al.
Neuromuscular Disorders : Nmd, 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
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
Genotype and age at diagnosis in Thai boys with Duchenne muscular dystrophy (DMD).
Yamputchong P et al.
Neuromuscular Disorders : Nmd, 2020
Derivation and Characterization of Immortalized Human Muscle Satellite Cell Clones from Muscular Dystrophy Patients and Healthy Individuals.
Massenet J et al.
Cells, 2020
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
A novel somatic mutation of SIN3A detected in breast cancer by whole-exome sequencing enhances cell proliferation through ERα expression.
Watanabe K et al.
Scientific Reports, 2018
Comprehensive genetic characteristics of dystrophinopathies in China.
Ma P et al.
Orphanet Journal of Rare Diseases, 2018
Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan.
Okubo M et al.
Orphanet Journal of Rare Diseases, 2017
Genetic profile of Brazilian patients with dystrophinopathies.
de Almeida PAD et al.
Clinical Genetics, 2017
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
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
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
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
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
Introducing sense into nonsense in treatments of human genetic diseases.
Linde L et al.
Trends in Genetics : Tig, 2008
Simultaneous MLPA-based multiplex point mutation and deletion analysis of the dystrophin gene.
Bunyan DJ et al.
Molecular Biotechnology, 2007
Strategy for comprehensive molecular testing for Duchenne and Becker muscular dystrophies.
Stockley TL et al.
Genetic Testing, 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
DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients.
Hofstra RM et al.
Human Mutation, 2004
Association of a novel dystrophin (DMD) genetic nonsense variant in a cat with X-linked muscular dystrophy with a mild clinical course.
Muto H et al.
Journal of Veterinary Internal Medicine, 0