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
Specificities of the DMD Point Variant Spectrum in Russian Patients With Duchenne/Becker Muscular Dystrophy.
Zinina E et al.
Clinical Genetics, 2025
Natural history of patients with nonsense mutation Duchenne muscular dystrophy treated with ataluren in Spain.
Armijo J et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2025
Understanding rare variant contributions to autism: lessons from dystrophin-deficient model.
Costa CIS et al.
Npj Genomic Medicine, 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
DMD mutations in pediatric patients with phenotypes of Duchenne/Becker muscular dystrophy.
Ge L et al.
Open Medicine (warsaw, Poland), 2024
Uncovering the true features of dystrophin gene rearrangement and improving the molecular diagnosis of Duchenne and Becker muscular dystrophies.
Ling C et al.
Iscience, 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
Newborn screening and genomic analysis of duchenne muscular dystrophy in Henan, China.
Jia C et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2023
Determining the Likelihood of Disease Pathogenicity Among Incidentally Identified Genetic Variants in Rare Dilated Cardiomyopathy-Associated Genes.
Yang Q et al.
Journal of the American Heart Association, 2022
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
A female carrier of a novel DMD mutation with slightly skewed X-chromosome inactivation shows a suspected case of Becker muscular dystrophy in a Chinese family.
Chen J et al.
Molecular Genetics and Genomics : Mgg, 2021
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
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
Comprehensive genetic analysis of 961 unrelated Duchenne Muscular Dystrophy patients: Focus on diagnosis, prevention and therapeutic possibilities.
Kumar SH et al.
Plos One, 2020
Genetic analysis of 62 Chinese families with Duchenne muscular dystrophy and strategies of prenatal diagnosis in a single center.
Zhang J et al.
Bmc Medical Genetics, 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
Corrigendum: Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations.
Okubo M et al.
Journal of Human Genetics, 2017
Genetic analysis of the dystrophin gene in children with Duchenne and Becker muscular dystrophies.
Zhong J et al.
Muscle & Nerve, 2017
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
Prenatal diagnosis of Duchenne muscular dystrophy in 131 Chinese families with dystrophinopathy.
Wang H et al.
Prenatal Diagnosis, 2017
DMDtoolkit: a tool for visualizing the mutated dystrophin protein and predicting the clinical severity in DMD.
Zhou J et al.
Bmc Bioinformatics, 2017
Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations.
Okubo M et al.
Journal of Human Genetics, 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
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
DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations.
Juan-Mateu J et al.
Plos One, 2015
Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age.
Mercier S et al.
European Journal of Human Genetics : Ejhg, 2013
Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes.
Juan-Mateu J et al.
Plos One, 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
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
Introducing sense into nonsense in treatments of human genetic diseases.
Linde L et al.
Trends in Genetics : Tig, 2008
Screening human genes for small alterations performing an enzymatic cleavage mismatched analysis (ECMA) protocol.
Vogiatzakis N et al.
Molecular Biotechnology, 2007
Simultaneous MLPA-based multiplex point mutation and deletion analysis of the dystrophin gene.
Bunyan DJ et al.
Molecular Biotechnology, 2007
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
Mutation analysis of the dystrophin gene in Southern French DMD or BMD families: from Southern blot to protein truncation test.
Tuffery S et al.
Human Genetics, 1998
Screening for minor changes in the distal part of the human dystrophin gene in Greek DMD/BMD patients.
Kekou K et al.
European Journal of Human Genetics : Ejhg, 0
Mutational spectrum of Duchenne muscular dystrophy in Spain: Study of 284 cases.
Vieitez I et al.
Neurologia (barcelona, Spain), 0