Associated Papers
Evaluation of Readthrough Efficiency of Negamycin Derivatives against Nonsense Mutations in Muscular Dystrophy Genes.
Omura N et al.
Biological & Pharmaceutical Bulletin, 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
Duchenne Muscular Dystrophy in the Republic of North Ossetia-Alania: Epidemiological Study, Diagnostic Issues, and Treatment Prospects.
Zinchenko R et al.
Genes, 2025
Integrative Transcriptomic and Network-Based Analysis of Neuromuscular Diseases.
García-Criado F et al.
International Journal of Molecular Sciences, 2025
Specificities of the DMD Point Variant Spectrum in Russian Patients With Duchenne/Becker Muscular Dystrophy.
Zinina E et al.
Clinical Genetics, 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
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
Preimplantation genetic testing for monogenic disorders (PGT-M) offers an alternative strategy to prevent children from being born with hereditary neurological diseases or metabolic diseases dominated by nervous system phenotypes: a retrospective study.
Zou W et al.
Journal of Assisted Reproduction and Genetics, 2024
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
A Deletion in Duchenne Muscular Dystrophy Gene Found Through Whole Exome Sequencing in Iran.
Ameri-Mahabadi S et al.
Dna and Cell Biology, 2023
Genetic-Based Treatment Strategies for Muscular Dystrophy and Congenital Myopathies.
Findlay AR et al.
Continuum (minneapolis, Minn.), 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
Dystrophin Protein Quantification as a Duchenne Muscular Dystrophy Diagnostic Biomarker in Dried Blood Spots Using Multiple Reaction Monitoring Tandem Mass Spectrometry: A Preliminary Study.
Nimer RM et al.
Molecules (basel, Switzerland), 2022
Good response to the late treatment with ataluren in a boy with Duchenne muscular dystrophy: could the previous mild course of the disease have affected the outcome?
Pasca L et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2022
The LOVD3 platform: efficient genome-wide sharing of genetic variants.
Fokkema IFAC et al.
European Journal of Human Genetics : Ejhg, 2021
Optogenetic modeling of human neuromuscular circuits in Duchenne muscular dystrophy with CRISPR and pharmacological corrections.
Paredes-Redondo A et al.
Science Advances, 2021
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
Generation of two genomic-integration-free DMD iPSC lines with mutations affecting all dystrophin isoforms and potentially amenable to exon-skipping.
Ferrari G et al.
Stem Cell Research, 2020
Genotypes and Phenotypes of DMD Small Mutations in Chinese Patients With Dystrophinopathies.
Wang L et al.
Frontiers in 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
A Reliable Targeted Next-Generation Sequencing Strategy for Diagnosis of Myopathies and Muscular Dystrophies, Especially for the Giant Titin and Nebulin Genes.
Zenagui R et al.
The Journal of Molecular Diagnostics : Jmd, 2018
Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan.
Okubo M et al.
Orphanet Journal of Rare Diseases, 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
Implementation of a Reliable Next-Generation Sequencing Strategy for Molecular Diagnosis of Dystrophinopathies.
Alame M et al.
The Journal of Molecular Diagnostics : Jmd, 2016
Whole dystrophin gene analysis by next-generation sequencing: a comprehensive genetic diagnosis of Duchenne and Becker muscular dystrophy.
Wang Y et al.
Molecular Genetics and Genomics : Mgg, 2014
Glycosaminoglycan modifications in Duchenne muscular dystrophy: specific remodeling of chondroitin sulfate/dermatan sulfate.
Negroni E et al.
Journal of Neuropathology and Experimental Neurology, 2014
Preimplantational genetic diagnosis and mutation detection in a family with duplication mutation of DMD gene.
Ye Y et al.
Gynecologic and Obstetric Investigation, 2014
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
MLPA-based genotype-phenotype analysis in 1053 Chinese patients with DMD/BMD.
Yang J et al.
Bmc Medical Genetics, 2013
Phase 2a study of ataluren-mediated dystrophin production in patients with nonsense mutation Duchenne muscular dystrophy.
Finkel RS et al.
Plos One, 2013
Increased selectivity toward cytoplasmic versus mitochondrial ribosome confers improved efficiency of synthetic aminoglycosides in fixing damaged genes: a strategy for treatment of genetic diseases caused by nonsense mutations.
Kandasamy J et al.
Journal of Medicinal Chemistry, 2012
Detection of truncated dystrophin lacking the C-terminal domain in a Chinese pedigree by next-generation sequencing.
Xie S et al.
Gene, 2012
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
Repairing faulty genes by aminoglycosides: development of new derivatives of geneticin (G418) with enhanced suppression of diseases-causing nonsense mutations.
Nudelman I et al.
Bioorganic & Medicinal Chemistry, 2010
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
Point mutations in Czech DMD/BMD patients and their phenotypic outcome.
Sedlácková J et al.
Neuromuscular Disorders : Nmd, 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
Rapid and cost effective detection of small mutations in the DMD gene by high resolution melting curve analysis.
Almomani R et al.
Neuromuscular Disorders : Nmd, 2009
Development of novel aminoglycoside (NB54) with reduced toxicity and enhanced suppression of disease-causing premature stop mutations.
Nudelman I et al.
Journal of Medicinal Chemistry, 2009