ArticleScientific reports2017
Timing and localization of human dystrophin isoform expression provide insights into the cognitive phenotype of Duchenne muscular dystrophy.
Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 133 papers, 3 of them syntheses that pooled it.
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Who cites it
133 citing papers in PubMed, 3 syntheses or guidelines pooled it, 208 citations in OpenAlex.
- Tissue- and cell-specific whole-transcriptome meta-analysis from brain and retina reveals differential expression of dystrophin complexes and new dystrophin spliced isoforms.Human molecular genetics · 2023Pooled it
- Dystrophin Genotype and Risk of Neuropsychiatric Disorders in Dystrophinopathies: A Systematic Review and Meta-Analysis.Journal of neuromuscular diseases · 2023Pooled it
- Epileptic disorders in Becker and Duchenne muscular dystrophies: a systematic review and meta-analysis.Journal of neurology · 2022Pooled it
- Relationships betweenNeurology · 2019Trial
- Editorial for "Relationship Between Dp140 Genotype and Cortical Similarity Network Phenotype in Duchenne Muscular Dystrophy: Preliminary T1 Weighted Study".Journal of magnetic resonance imaging : JMRI · 2026Article
- Relationship Between Dp140 Genotype and Cortical Similarity Network Phenotype in Duchenne Muscular Dystrophy: Preliminary T1 Weighted Study.Journal of magnetic resonance imaging : JMRI · 2026Article
- Characterization of Dystrophin-Related Syndromes: Carriers, DMD, and BMD.Muscles (Basel, Switzerland) · 2026Review
- Evaluating exon skipping in the central nervous system in Duchenne muscular dystrophy using spatial transcriptomics.iScience · 2026Article
- Neurological impairments in Duchenne muscular dystrophy: A comprehensive review.Acta neurologica Belgica · 2026Review
- Neuropsychological and Emotional-Behavioral Profiles in Pediatric Duchenne Muscular Dystrophy: A Single-Center Clinical Study.Children (Basel, Switzerland) · 2026Article
- The Multi-System Roles of Dp71 Dystrophin Isoforms in Duchenne Muscular Dystrophy.Muscles (Basel, Switzerland) · 2026Review
- Dystrophinopathy with aPCN reports : psychiatry and clinical neurosciences · 2026Article
- Screening cognitive and academic problems in Duchenne Muscular Dystrophy: Validity and reliability of the Kempenhaeghe Learning Questionnaire.Journal of neuromuscular diseases · 2026Article
- Dystrophins DP71 and DP427 determine cell viability during proliferation and myofibre differentiation.Cell death & disease · 2026Article
- Cognitive deficits linked to intrinsic timescales and gray matter volume abnormalities in children with Duchenne muscular dystrophy.Journal of neurodevelopmental disorders · 2026Article
- Loss of dystrophin reduces CB1 receptor expression and endocannabinoid-dependent synaptic plasticity in the cerebellar cortex.bioRxiv : the preprint server for biology · 2026Article
- Beyond muscle: Delivering RNA therapeutics to the CNS in Duchenne muscular dystrophy.Journal of neuromuscular diseases · 2026Review
- State-of-the-Art Research and New Pharmacological Perspectives on Renal Involvement in Duchenne Muscular Dystrophy: A Narrative Review.Biomedicines · 2026Review
- From molecular correction to functional rescue: delivery, tissue state, and immunobiology as the principal constraints on dystrophin-restoring therapy in Duchenne muscular dystrophy.Frontiers in pharmacology · 2026Review
- Bridging science and hope: the evolving story of gene therapy for neuromuscular diseases.Frontiers in cell and developmental biology · 2026Review
73 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
12 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Duchenne muscular dystrophy (DMD) is a muscular dystrophy with high incidence of learning and behavioural problems and is associated with neurodevelopmental disorders. To gain more insights into the role of dystrophin in this cognitive phenotype, we performed a comprehensive analysis of the expression patterns of dystrophin isoforms across human brain development, using unique transcriptomic data from Allen Human Brain and BrainSpan atlases. Dystrophin isoforms show large changes in expression through life with pronounced differences between the foetal and adult human brain. The Dp140 isoform was expressed in the cerebral cortex only in foetal life stages, while in the cerebellum it was also expressed postnatally. The Purkinje isoform Dp427p was virtually absent. The expression of dystrophin isoforms was significantly associated with genes implicated in neurodevelopmental disorders, like autism spectrum disorders or attention-deficit hyper-activity disorders, which are known to be associated to DMD. We also identified relevant functional associations of the different isoforms, like an association with axon guidance or neuron differentiation during early development. Our results point to the crucial role of several dystrophin isoforms in the development and function of the human brain.
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