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
41595432 (PubMed )
Supplement: genes-17-00012-s001.zip › Supplementary_Table_S1_-_Genotype_and_phenotype_data.xlsx › Foaie1
Advancing neurogenetics in Africa: past achievements, current developments and shaping the future.
Landouré G et al.
Nature Reviews. Neurology, 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
39182149 (PubMed )
Supplement: 13023_2024_3217_MOESM2_ESM.docx
Efficient precise in vivo base editing in adult dystrophic mice.
Xu L et al.
Nature Communications, 2021
34140489 (PubMed )
Supplement: 41467_2021_23996_MOESM1_ESM.pdf
Targeted sequencing of the DMD locus: A comprehensive diagnostic tool for all mutations.
Aravind S et al.
The Indian Journal of Medical Research, 2019
Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan.
Okubo M et al.
Orphanet Journal of Rare Diseases, 2017
28859693 (PubMed )
Supplement: 13023_2017_703_MOESM1_ESM.pdf
Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes.
Juan-Mateu J et al.
Plos One, 2013
Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy.
Juan-Mateu J et al.
Orphanet Journal of Rare Diseases, 2012
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
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
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
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