Associated Papers
Recurrent somatic mutation and progerin expression in early vascular aging of chronic kidney disease.
Revêchon G et al.
Nature Aging, 2025
Transcriptional adaptation upregulates utrophin in Duchenne muscular dystrophy.
Falcucci L et al.
Nature, 2025
Genomic insights into Duchene muscular dystrophy: Analysis of 1250 patients reveals 30% novel genetic patterns and 6 novel variants.
Amr K et al.
Journal, Genetic Engineering & Biotechnology, 2024
Prime editing: A gene precision editing tool from inception to present.
Liu Z et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 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 NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 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
FILIP1-associated neuromuscular disorder and phenotypic blending due to paternal UPD6.
Watts LM et al.
Brain Communications, 2024
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
Prime Editing for Human Gene Therapy: Where Are We Now?
Godbout K et al.
Cells, 2023
Prime editing optimized RTT permits the correction of the c.8713C>T mutation in DMD gene.
Happi Mbakam C et al.
Molecular Therapy. Nucleic Acids, 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
BETs inhibition attenuates oxidative stress and preserves muscle integrity in Duchenne muscular dystrophy.
Segatto M et al.
Nature Communications, 2020
Genotype and age at diagnosis in Thai boys with Duchenne muscular dystrophy (DMD).
Yamputchong P et al.
Neuromuscular Disorders : Nmd, 2020
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
Clinical utility in infants with suspected monogenic conditions through next-generation sequencing.
Hong S et al.
Molecular Genetics & Genomic Medicine, 2019
Comprehensive Analysis of Rare Variants of 101 Autism-Linked Genes in a Hungarian Cohort of Autism Spectrum Disorder Patients.
Balicza P 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
DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy.
Guo R et al.
Journal of Human Genetics, 2015
Comparison of mutation profiles in the Duchenne muscular dystrophy gene among populations: implications for potential molecular therapies.
López-Hernández LB et al.
International Journal of Molecular Sciences, 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
DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations.
Juan-Mateu J et al.
Plos One, 2015
Diagnostic and clinical characteristics of early-manifesting females with Duchenne or Becker muscular dystrophy.
Imbornoni L et al.
American Journal of Medical Genetics. Part A, 2014
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
Quality assurance for Duchenne and Becker muscular dystrophy genetic testing: development of a genomic DNA reference material panel.
Kalman L et al.
The Journal of Molecular Diagnostics : Jmd, 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
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.
Flanigan KM et al.
Human Mutation, 2009
Somatic mosaicism for Duchenne dystrophy: evidence for genetic normalization mitigating muscle symptoms.
Kesari A et al.
American Journal of Medical Genetics. Part A, 2009
Small mutations of the DMD gene in Taiwanese families.
Hwa HL et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2008
Simultaneous MLPA-based multiplex point mutation and deletion analysis of the dystrophin gene.
Bunyan DJ et al.
Molecular Biotechnology, 2007
Experience and strategy for the molecular testing of Duchenne muscular dystrophy.
Prior TW et al.
The Journal of Molecular Diagnostics : Jmd, 2005
Mutation rates in the dystrophin gene: a hotspot of mutation at a CpG dinucleotide.
Buzin CH et al.
Human Mutation, 2005
Diagnosis of Duchenne dystrophy by enhanced detection of small mutations.
Mendell JR et al.
Neurology, 2001