{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Chesshyre M"],"funding":["L'Association Française contre les Myopathies funding for the 'Outcome Measures in Duchenne Muscular Dystrophy: A Natural History Study'","Brain Involvement iN Dystrophinopathies (BIND) European Union Horizon 2020 award Grant agreement","Muscular Dystrophy UK"],"pagination":["1732-1742"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12455871"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["12(9)"],"pubmed_abstract":["<h4>Objective</h4>In Duchenne muscular dystrophy (DMD), lack of the shorter dystrophin isoforms Dp140 and Dp71 is associated with increased central nervous system (CNS) involvement. We aimed to investigate how CNS involvement affects motor development in young DMD boys.<h4>Method</h4>Three hundred and forty-two DMD boys aged 3-6 years were subdivided according to DMD mutation expected effects on isoform expression: Group 1 (Dp427 absent, Dp140/Dp71 present, n = 170); Group 2 (Dp427/Dp140 absent, Dp71 present, n = 154) and Group 3 (Dp427/Dp140/Dp71 absent, n = 18). Mixed effects logistic regression was used to investigate relationships between isoform group and the odds of achieving higher North Star Ambulatory Assessment (NSAA) subitem scores for 15 subitems, adjusting for age at visit and"],"journal":["Annals of clinical and translational neurology"],"pubmed_title":["Influence of Dystrophin Isoform Deficiency on Motor Development in Duchenne Muscular Dystrophy."],"pmcid":["PMC12455871"],"funding_grant_id":["22GRO‐PG24‐0598","847826","22GRO-PG24-0598"],"pubmed_authors":["Emery N","Ramdas S","Atherton M","Pallant L","Sheehan J","Tewnion J","Reading E","Stewart K","Skone K","Baxter K","Taylor J","James M","Flint F","Taylor F","Diaz-Manera J","Gregson S","Tasca G","Wright E","Hughes I","Tirupathi S","Wills L","Williamson S","Abbott L","Walker S","Shill K","Elseed M","Vanegas M","Chan E","Servais L","Chase H","Khries M","Rabb R","Marco SS","McKenzie S","Tomlinson R","Sarkozy A","Henderson A","Sa M","Clark S","Lambat Z","Baskaran D","Parasuraman D","Muni-Lofra R","Strachan K","Milev E","Stevenson K","McMurchie H","Locke L","Murugan A","DiMarco M","Munot P","Thomas R","Madhu R","McFetridge J","Ambegaonkar G","Wong K","Schugal A","Wolfe A","Wong J","Jungbluth H","Bartram E","Gowda V","Manzur A","Adams C","English H","Robb S","UK NorthStar Clinical Network","Cobb G","Dunne J","Parkes A","Baranello G","Roberts D","Frimpong C","Wood C","Bhangu N","de Goede C","O'Donogue D","Scoto M","Karuvattil R","Nicfhirleinn G","Keetley R","Krishnakumar D","Sedehizadeh S","Prasad M","Chesshyre M","Watts-Whent J","Burnett N","Watson J","Skippen A","Guarino I","Leyland T","Sodhi J","Moores J","Davis H","Groves E","Terespolsky R","Straub V","Childs A","McVeigh J","Girshab W","Bettolo C","Geary S","Hussain N","Beattie H","Stephen E","Jarvis H","Ridout D","Guglieri M","Saxena A","Noble R","Birchall N","Stimpson G","Willis T","Mills N","Illingworth M","Torne K","Burslem J","Ramjattan H","O'Reilly E","Majumdar A","Sullivan R","Whitehouse E","Crook V","Joseph S","Martinaeu O","Warner S","Longatto J","Pysden K","Velmurugan V","Mohamed R","Dowling E","Balla Y","Schofield A","Horrocks I","Smith C","Rylance C","Martos C","Muntoni F","Wraige E","Lilien C","Robinson V","TeWaterNaude J","Robertson G","Shah A","Moat D","Moustoukas J","Fenty P","Brink P","Ong M","Robinson E","Palmer J","Brown S","Payne K"],"additional_accession":[]},"is_claimable":false,"name":"Influence of Dystrophin Isoform Deficiency on Motor Development in Duchenne Muscular Dystrophy.","description":"<h4>Objective</h4>In Duchenne muscular dystrophy (DMD), lack of the shorter dystrophin isoforms Dp140 and Dp71 is associated with increased central nervous system (CNS) involvement. We aimed to investigate how CNS involvement affects motor development in young DMD boys.<h4>Method</h4>Three hundred and forty-two DMD boys aged 3-6 years were subdivided according to DMD mutation expected effects on isoform expression: Group 1 (Dp427 absent, Dp140/Dp71 present, n = 170); Group 2 (Dp427/Dp140 absent, Dp71 present, n = 154) and Group 3 (Dp427/Dp140/Dp71 absent, n = 18). Mixed effects logistic regression was used to investigate relationships between isoform group and the odds of achieving higher North Star Ambulatory Assessment (NSAA) subitem scores for 15 subitems, adjusting for age at visit and","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Sep","modification":"2026-06-03T18:44:58.279Z","creation":"2026-05-30T03:06:47.261Z"},"accession":"S-EPMC12455871","cross_references":{"pubmed":["40552660"],"doi":["10.1002/acn3.70097"]}}