Publications

An overview of scientific publications related to the BIND Project. The table will be updated as the project progresses.

Name of publicationAuthorsDate publishedLay Summary
The unmet need of psychopharmacological intervention for neuropsychiatric and neurodevelopmental comorbidities in Duchenne muscular dystrophy: report of 5 workshopsMuntoni et alMarch 2026Available
Screening for brain-related comorbidities in Duchenne muscular dystrophy: Construction, reliability, and validity of the BIND screenerMiranda et al14 January 2026Available
Hyperactivity, compulsive-like behaviours, and impaired flexibility in mouse models of Duchenne muscular dystrophyZarrouki et al Accepted online 9th January 2026Accepted
Ineffective behavioral rescue despite partial brain Dp427 restoration by AAV9-U7-mediated exon 51 skipping in mdx52 miceVacca et al09 December 2025Available
Regional expression of dystrophin-gene transcripts and proteins in the mouse brainTetorou et al15 September 2025Available
Beyond muscle: Delivering RNA therapeutics to the CNS in Duchenne muscular dystrophyVacca et al29 July 2025Available
Influence of Dystrophin Isoform Deficiency on Motor Development in Duchenne Muscular Dystrophy Chesshyre et al24 June 2025Available
Case Report: Home initiation of nocturnal non-invasive ventilation in two adolescents with Duchenne muscular dystrophy and comorbid autism spectrum disorder and ADHDWeerkamp et al 14 March 2025Available
Duchenne muscular dystrophy: recent insights in brain related comorbiditiesVaillend et al03 February 2025Available
The behavioural consequences of dystrophinopathyVerhaeg et al 01 February 2025Available
The role of dystrophin isoforms and interactors in the brainTetorou et al02 December 2024Available
Impact of distinct dystrophin gene mutations on behavioral phenotypes of Duchenne muscular dystrophySaoudi et al 01 December 2024Available
Towards harmonization of clinical tools for assessing Brain Involvement in Dystrophinopathies (BIND); report of four expert workshops: Newcastle, Leiden, Rome, ParisHendriksen et al01 November 2024Available
Social and emotional alterations in mice lacking the short dystrophin-gene product, Dp71Miranda et al 24 August 2024Available
AAV-Mediated Restoration of Dystrophin-Dp71 in the Brain of Dp71-Null Mice: Molecular, Cellular and Behavioral OutcomesVacca et al20 April 2024Available
The unconditioned fear response in vertebrates deficient in dystrophinGharibi et al12 March 2024Available
Understanding anxiety experienced by young males with Duchenne muscular dystrophy: a qualitative focus group studyTrimmer et al02 January 2024Available
Networking to Optimize Dmd exon 53 Skipping in the Brain of mdx52 Mouse ModelDoisy et al07 December 2023Available
Psychological test usage in duchenne muscular dystrophy: An EU multi-centre studyWeerkamp et al22 June 2023Available
Partial restoration of brain dystrophin by tricyclo-DNA antisense oligonucleotides alleviates emotional deficits in mdx52 mice Saoudi et al16 March 2023Available
Investigating the Impact of Delivery Routes for Exon Skipping Therapies in the CNS of DMD Mouse Models Saoudi et al15 March 2023Available
FAIRification and semantic modelling for Duchenne and Becker Muscular Dystrophy rare diseasesPerdomo-Quinteiro et al13 February 2023Available
A Longitudinal Follow-Up Study of Intellectual Function in Duchenne Muscular Dystrophy over Age: Is It Really Stable? Chieffo et al04 January 2023Pending
Wechsler Scale Intelligence Testing in Males with Dystrophinopathies: A Review and Meta-Analysis Weerkamp et al14 November 2022Available
Abnormal Expression of Synaptic and Extrasynaptic GABAA Receptor Subunits in the Dystrophin-Deficient mdx MouseZarrouki et al20 October 2022Available
Language Development in Preschool Duchenne Muscular Dystrophy BoysChieffo et al16 September 2022Pending
Brain Dp140 alters glutamatergic transmission and social behaviour in the mdx52 mouse model of Duchenne muscular dystrophyHashimoto et al30 May 2022Pending
Partial Restoration of Brain Dystrophin and Behavioral Deficits by Exon Skipping in the Muscular Dystrophy X-Linked (mdx) MouseZarrouki et al19 May 2022Available
Development of a novel startle response task in Duchenne muscular dystrophyMaresh et al19 April 2022Available
Improved reproducibility of diffusion kurtosis imaging using regularized non-linear optimization informed by artificial neural networksKerkelä et al15 March 2022Available
Startle responses in Duchenne muscular dystrophy: a novel biomarker of brain dystrophin deficiencyMaresh et al08 February 2022Available
Investigating the role of dystrophin isoform deficiency in motor function in Duchenne muscular dystrophyChesshyre et al26 January 2022Available
Duchenne muscular dystrophy patients lacking the dystrophin isoforms Dp140 and Dp71 and mouse models lacking Dp140 have a more severe motor phenotypeChesshyre et al26 January 2022Available
Psychosocial adjustment in adults with Duchenne muscular dystrophy: A pilot study on a shortened parent-report questionnaireWeerkamp et al03 November 2021Available
Emotional behavior and brain anatomy of the mdx52 mouse model of Duchenne muscular dystrophySaoudi et al21 September 2021Available