Associated Papers
Deep characterization of females with heterozygous Duchenne muscular dystrophy mutations.
Riguzzi P et al.
Journal of Neurology, 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
Increase in cathepsin K gene expression in Duchenne muscular dystrophy skeletal muscle.
Kimura S et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2024
Similar disease progression in nonsense Duchenne muscular dystrophy boys as general natural history: Single Brazilian center 15 years registry view.
Nardes F et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2024
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
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
Circadian Genes as Exploratory Biomarkers in DMD: Results From Both the mdx Mouse Model and Patients.
Rossi R et al.
Frontiers in Physiology, 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
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
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
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
Clinical and mutational characteristics of Duchenne muscular dystrophy patients based on a comprehensive database in South China.
Wang DN et al.
Neuromuscular Disorders : Nmd, 2017
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
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
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
Preimplantation genetic haplotyping: 127 diagnostic cycles demonstrating a robust, efficient alternative to direct mutation testing on single cells.
Renwick P et al.
Reproductive Biomedicine Online, 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
[Detection of genomic duplications and deletions of the DMD gene in affected males and female carriers by using mutiplex ligation-dependent probe amplification].
Shen BC et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2007
Simultaneous MLPA-based multiplex point mutation and deletion analysis of the dystrophin gene.
Bunyan DJ et al.
Molecular Biotechnology, 2007
[Identification of disease-causing point mutations in DMD patients' dystrophin gene without large deletions/duplications].
Shen BC et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2006
Experience and strategy for the molecular testing of Duchenne muscular dystrophy.
Prior TW et al.
The Journal of Molecular Diagnostics : Jmd, 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
A possible missense mutation detected in the dystrophin gene by Double-Strand Conformation Analysis (DSCA).
Saad FA et al.
Neuromuscular Disorders : Nmd, 1994
Identification of point mutations in Turkish DMD/BMD families using multiplex-single stranded conformation analysis (SSCA).
Eraslan S et al.
European Journal of Human Genetics : Ejhg, 0