{"PubmedArticle":{"MedlineCitation":{"@attributes":{"Status":"MEDLINE","Owner":"NLM","IndexingMethod":"Automated"},"PMID":{"@attributes":{"Version":"1"},"@text":"39900900"},"DateCompleted":{"Year":"2025","Month":"05","Day":"05"},"DateRevised":{"Year":"2025","Month":"05","Day":"25"},"Article":{"@attributes":{"PubModel":"Electronic"},"Journal":{"ISSN":{"@attributes":{"IssnType":"Electronic"},"@text":"2041-1723"},"JournalIssue":{"@attributes":{"CitedMedium":"Internet"},"Volume":"16","Issue":"1","PubDate":{"Year":"2025","Month":"Feb","Day":"03"}},"Title":"Nature communications","ISOAbbreviation":"Nat Commun"},"ArticleTitle":"Duchenne muscular dystrophy: recent insights in brain related comorbidities.","Pagination":{"StartPage":"1298","MedlinePgn":"1298"},"ELocationID":[{"@attributes":{"EIdType":"pii","ValidYN":"Y"},"@text":"1298"},{"@attributes":{"EIdType":"doi","ValidYN":"Y"},"@text":"10.1038\/s41467-025-56644-w"}],"Abstract":{"AbstractText":["Duchenne muscular dystrophy (DMD), the most common childhood muscular dystrophy, arises from DMD gene mutations, affecting the production of muscle dystrophin protein. Brain dystrophin-gene products are also transcribed via internal promoters. Their deficiency contributes to comorbidities, including intellectual disability (\u2009~\u200922% of patients), autism (\u2009~\u20096%) and attention deficit disorders (\u2009~\u200918%), representing a major unmet need for patients and families. Thus, improvement of their diagnosis and treatment is needed. Dystrophic mouse models exhibit similar phenotypes, where genetic therapies restoring brain dystrophins improve their behaviour. This suggests that future genetic therapies could address both muscle and brain dysfunction in DMD patients."],"CopyrightInformation":"\u00a9 2025. The Author(s)."},"AuthorList":{"@attributes":{"CompleteYN":"Y"},"Author":[{"@attributes":{"ValidYN":"Y","EqualContrib":"Y"},"LastName":"Vaillend","ForeName":"Cyrille","Initials":"C","AffiliationInfo":[{"Affiliation":"Universit\u00e9 Paris-Saclay, CNRS, Institut des Neurosciences Paris-Saclay, 91400, Saclay, Paris, France."}]},{"@attributes":{"ValidYN":"Y","EqualContrib":"Y"},"LastName":"Aoki","ForeName":"Yoshitsugu","Initials":"Y","Identifier":[{"@attributes":{"Source":"ORCID"},"@text":"0000-0002-9038-7506"}],"AffiliationInfo":[{"Affiliation":"Department of Molecular Therapy, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Kodaira, Tokyo, 187-8502, Japan."}]},{"@attributes":{"ValidYN":"Y","EqualContrib":"Y"},"LastName":"Mercuri","ForeName":"Eugenio","Initials":"E","AffiliationInfo":[{"Affiliation":"Department of Paediatric Neurology, Catholic University, Rome, Italy."}]},{"@attributes":{"ValidYN":"Y"},"LastName":"Hendriksen","ForeName":"Jos","Initials":"J","AffiliationInfo":[{"Affiliation":"Kempenhaeghe Centre for Neurological Learning Disabilities, Heeze, the Netherlands; Maastricht University, School for Mental Health and Neuroscience, Maastricht, the Netherlands. hendriksenj@kempenhaeghe.nl."}]},{"@attributes":{"ValidYN":"Y"},"LastName":"Tetorou","ForeName":"Konstantina","Initials":"K","AffiliationInfo":[{"Affiliation":"University College London Great Ormond Street Institute of Child Health, London, UK."}]},{"@attributes":{"ValidYN":"Y"},"LastName":"Goyenvalle","ForeName":"Aurelie","Initials":"A","Identifier":[{"@attributes":{"Source":"ORCID"},"@text":"0000-0003-3938-1165"}],"AffiliationInfo":[{"Affiliation":"Universit\u00e9 Paris-Saclay, UVSQ, Inserm, END-ICAP, 78000, Versailles, France. aurelie.goyenvalle@uvsq.fr."}]},{"@attributes":{"ValidYN":"Y"},"LastName":"Muntoni","ForeName":"Francesco","Initials":"F","Identifier":[{"@attributes":{"Source":"ORCID"},"@text":"0000-0002-9102-5232"}],"AffiliationInfo":[{"Affiliation":"University College London Great Ormond Street Institute of Child Health, London, UK. f.muntoni@ucl.ac.uk."}]}]},"Language":["eng"],"PublicationTypeList":{"PublicationType":[{"@attributes":{"UI":"D016428"},"@text":"Journal Article"},{"@attributes":{"UI":"D016454"},"@text":"Review"}]},"ArticleDate":[{"@attributes":{"DateType":"Electronic"},"Year":"2025","Month":"02","Day":"03"}]},"MedlineJournalInfo":{"Country":"England","MedlineTA":"Nat Commun","NlmUniqueID":"101528555","ISSNLinking":"2041-1723"},"ChemicalList":{"Chemical":[{"RegistryNumber":"0","NameOfSubstance":{"@attributes":{"UI":"D016189"},"@text":"Dystrophin"}}]},"CitationSubset":["IM"],"MeshHeadingList":{"MeshHeading":[{"DescriptorName":{"@attributes":{"UI":"D020388","MajorTopicYN":"Y"},"@text":"Muscular Dystrophy, Duchenne"},"QualifierName":[{"@attributes":{"UI":"Q000235","MajorTopicYN":"N"},"@text":"genetics"},{"@attributes":{"UI":"Q000628","MajorTopicYN":"N"},"@text":"therapy"},{"@attributes":{"UI":"Q000453","MajorTopicYN":"N"},"@text":"epidemiology"}]},{"DescriptorName":{"@attributes":{"UI":"D000818","MajorTopicYN":"N"},"@text":"Animals"}},{"DescriptorName":{"@attributes":{"UI":"D006801","MajorTopicYN":"N"},"@text":"Humans"}},{"DescriptorName":{"@attributes":{"UI":"D016189","MajorTopicYN":"N"},"@text":"Dystrophin"},"QualifierName":[{"@attributes":{"UI":"Q000235","MajorTopicYN":"N"},"@text":"genetics"},{"@attributes":{"UI":"Q000378","MajorTopicYN":"N"},"@text":"metabolism"}]},{"DescriptorName":{"@attributes":{"UI":"D001921","MajorTopicYN":"Y"},"@text":"Brain"},"QualifierName":[{"@attributes":{"UI":"Q000378","MajorTopicYN":"N"},"@text":"metabolism"},{"@attributes":{"UI":"Q000473","MajorTopicYN":"N"},"@text":"pathology"},{"@attributes":{"UI":"Q000503","MajorTopicYN":"N"},"@text":"physiopathology"}]},{"DescriptorName":{"@attributes":{"UI":"D015897","MajorTopicYN":"N"},"@text":"Comorbidity"}},{"DescriptorName":{"@attributes":{"UI":"D051379","MajorTopicYN":"N"},"@text":"Mice"}},{"DescriptorName":{"@attributes":{"UI":"D004195","MajorTopicYN":"N"},"@text":"Disease Models, Animal"}},{"DescriptorName":{"@attributes":{"UI":"D008607","MajorTopicYN":"N"},"@text":"Intellectual Disability"},"QualifierName":[{"@attributes":{"UI":"Q000235","MajorTopicYN":"N"},"@text":"genetics"},{"@attributes":{"UI":"Q000453","MajorTopicYN":"N"},"@text":"epidemiology"}]},{"DescriptorName":{"@attributes":{"UI":"D001321","MajorTopicYN":"N"},"@text":"Autistic Disorder"},"QualifierName":[{"@attributes":{"UI":"Q000235","MajorTopicYN":"N"},"@text":"genetics"},{"@attributes":{"UI":"Q000453","MajorTopicYN":"N"},"@text":"epidemiology"}]},{"DescriptorName":{"@attributes":{"UI":"D001289","MajorTopicYN":"N"},"@text":"Attention Deficit Disorder with Hyperactivity"},"QualifierName":[{"@attributes":{"UI":"Q000235","MajorTopicYN":"N"},"@text":"genetics"},{"@attributes":{"UI":"Q000453","MajorTopicYN":"N"},"@text":"epidemiology"}]},{"DescriptorName":{"@attributes":{"UI":"D015316","MajorTopicYN":"N"},"@text":"Genetic Therapy"}},{"DescriptorName":{"@attributes":{"UI":"D009154","MajorTopicYN":"N"},"@text":"Mutation"}}]},"CoiStatement":"Competing interests: The authors declare the following competing interests. F.M. has received grants, speaker, and consultancy honoraria from Sarepta Therapeutics, Roche, PTC Therapeutics, Dyne Therapeutics, and Pfizer. E.M. has received grants, speaker, and consultancy honoraria from Sarepta Therapeutics, Roche, Italfarmaco. Y.A. has received grants and consultancy honoraria from Nippon Shinyaku Co., Ltd. and grants from Shionogi &amp; Co., Ltd. C.V., J.H., K.T. and A.G., declare no competing interests."},"PubmedData":{"History":{"PubMedPubDate":[{"@attributes":{"PubStatus":"received"},"Year":"2024","Month":"6","Day":"27"},{"@attributes":{"PubStatus":"accepted"},"Year":"2025","Month":"1","Day":"20"},{"@attributes":{"PubStatus":"medline"},"Year":"2025","Month":"2","Day":"4","Hour":"0","Minute":"21"},{"@attributes":{"PubStatus":"pubmed"},"Year":"2025","Month":"2","Day":"4","Hour":"0","Minute":"20"},{"@attributes":{"PubStatus":"entrez"},"Year":"2025","Month":"2","Day":"3","Hour":"23","Minute":"25"},{"@attributes":{"PubStatus":"pmc-release"},"Year":"2025","Month":"2","Day":"3"}]},"PublicationStatus":"epublish","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"pubmed"},"@text":"39900900"},{"@attributes":{"IdType":"pmc"},"@text":"PMC11790952"},{"@attributes":{"IdType":"doi"},"@text":"10.1038\/s41467-025-56644-w"},{"@attributes":{"IdType":"pii"},"@text":"10.1038\/s41467-025-56644-w"}]},"ReferenceList":[{"Reference":[{"Citation":"Crisafulli, S. et al. 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