{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,27]],"date-time":"2026-10-27T14:24:36Z","timestamp":1793111076708,"version":"4.5.0"},"reference-count":34,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2025,1,15]],"date-time":"2025-01-15T00:00:00Z","timestamp":1736899200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2025,1,15]],"date-time":"2025-01-15T00:00:00Z","timestamp":1736899200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"funder":[{"DOI":"10.13039\/501100001807","name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado de S\u00e3o Paulo","doi-asserted-by":"publisher","award":["2013\/07559-3"],"award-info":[{"award-number":["2013\/07559-3"]}],"id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Neurol"],"published-print":{"date-parts":[[2025,2]]},"DOI":"10.1007\/s00415-025-12896-6","type":"journal-article","created":{"date-parts":[[2025,1,15]],"date-time":"2025-01-15T13:37:15Z","timestamp":1736948235000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Cognitive changes and brain structural abnormalities in female carriers of DMD pathogenic variants"],"prefix":"10.1007","volume":"272","author":[{"given":"Mariana Rabelo","family":"de Brito","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thiago Junqueira R.","family":"Rezende","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephany","family":"da Silva Passos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Iwabe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alberto R. M.","family":"Martinez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anamarli","family":"Nucci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0898-2419","authenticated-orcid":false,"given":"Marcondes Cavalcante","family":"Fran\u00e7a Jr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,1,15]]},"reference":[{"issue":"3B","key":"12896_CR1","doi-asserted-by":"publisher","first-page":"610","DOI":"10.1590\/S0004-282X1997000400017","volume":"55","author":"SL Seixas","year":"1997","unstructured":"Seixas SL, Lagrota-C\u0103ndido J, Savino W, Quirico-Santos T (1997) The importance of mdx mouse in the physiopathology of Duchenne\u2019s muscular dystrophy. Arq Neuropsiquiatr 55(3B):610\u2013617. https:\/\/doi.org\/10.1590\/S0004-282X1997000400017","journal-title":"Arq Neuropsiquiatr"},{"issue":"1","key":"12896_CR2","doi-asserted-by":"publisher","first-page":"46","DOI":"10.1038\/jhg.2013.119","volume":"59","author":"T Lee","year":"2014","unstructured":"Lee T, Takeshima Y, Kusunoki N, Awano H, Yagi M, Matsuo M, Iijima K (2014) Differences in carrier frequency between mothers of Duchenne and Becker muscular dystrophy patients. J Hum Genet 59(1):46\u201350. https:\/\/doi.org\/10.1038\/jhg.2013.119","journal-title":"J Hum Genet"},{"issue":"3","key":"12896_CR3","doi-asserted-by":"publisher","first-page":"154","DOI":"10.1038\/jhg.2013.119","volume":"46","author":"RK Wicksell","year":"2004","unstructured":"Wicksell RK, Kihlgren M, Melin L, Eeg-Olofsson O (2004) Specific cognitive deficits are common in children with Duchenne muscular dystrophy. Dev Med Child Neurol 46(3):154\u2013159. https:\/\/doi.org\/10.1038\/jhg.2013.119","journal-title":"Dev Med Child Neurol"},{"issue":"5","key":"12896_CR4","doi-asserted-by":"publisher","first-page":"474","DOI":"10.1016\/j.jpeds.2006.12.045","volume":"150","author":"SE Cyrulnik","year":"2007","unstructured":"Cyrulnik SE, Fee RJ, De Vivo DC, Goldstein E, Hinton VJ (2007) Delayed developmental language milestones in children with Duchenne\u2019s muscular dystrophy. J Pediatr 150(5):474\u2013478. https:\/\/doi.org\/10.1016\/j.jpeds.2006.12.045","journal-title":"J Pediatr"},{"key":"12896_CR5","doi-asserted-by":"publisher","first-page":"2127","DOI":"10.1212\/wnl.54.11.2127","volume":"54","author":"VJ Hinton","year":"2000","unstructured":"Hinton VJ, De Vivo BC, Nereo NE, Goldstein E, Stern Y (2000) Poor verbal boys with Duchenne dystrophy. Neurology 54:2127\u20132213. https:\/\/doi.org\/10.1212\/wnl.54.11.2127","journal-title":"Neurology"},{"key":"12896_CR6","doi-asserted-by":"publisher","unstructured":"Anderson JL, Head SI, Rae C, Morley JW (2002) Brain function in Duchenne muscular dystrophy. Brain 125:4\u201313. https:\/\/doi.org\/10.1093\/brain\/awf012","DOI":"10.1093\/brain\/awf012"},{"issue":"2","key":"12896_CR7","doi-asserted-by":"publisher","first-page":"123","DOI":"10.1111\/j.1469-8749.2007.00123.x","volume":"49","author":"VJ Hinton","year":"2007","unstructured":"Hinton VJ, Fee RJ, Goldstein EM, De Vivo DC (2007) Verbal and memory skills in males with Duchenne muscular dystrophy. Dev Med Child Neurol 49(2):123\u2013128. https:\/\/doi.org\/10.1111\/j.1469-8749.2007.00123.x","journal-title":"Dev Med Child Neurol"},{"issue":"13","key":"12896_CR8","doi-asserted-by":"publisher","first-page":"73","DOI":"10.1186\/1471-2350-13-73","volume":"16","author":"S Brioschi","year":"2012","unstructured":"Brioschi S, Gualandi F, Scotton C et al (2012) Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype. BMC Med Genet 16(13):73. https:\/\/doi.org\/10.1186\/1471-2350-13-73","journal-title":"BMC Med Genet"},{"issue":"6","key":"12896_CR9","doi-asserted-by":"publisher","first-page":"710","DOI":"10.1002\/mus.27057","volume":"62","author":"H Demirci","year":"2020","unstructured":"Demirci H, Durmus H, Toksoy G, Uslu A, Parman Y, Hanagasi H (2020) Cognition of the mothers of patients with Duchenne muscular dystrophy. Muscle Nerve 62(6):710\u2013716. https:\/\/doi.org\/10.1002\/mus.27057","journal-title":"Muscle Nerve"},{"issue":"6","key":"12896_CR10","doi-asserted-by":"publisher","first-page":"682","DOI":"10.1002\/mus.28086","volume":"69","author":"BMC Loureiro","year":"2024","unstructured":"Loureiro BMC, de Brito MR, Iwabe C, Dertkigil SSJ, Fran\u00e7a MC Jr (2024) Quantitative ultrasonography reveals skeletal muscle abnormalities in carriers of DMD pathogenic variants. Muscle Nerve 69(6):682\u2013690. https:\/\/doi.org\/10.1002\/mus.28086","journal-title":"Muscle Nerve"},{"issue":"2","key":"12896_CR11","doi-asserted-by":"publisher","first-page":"212","DOI":"10.1590\/s1980-57642008dn10200015","volume":"1","author":"VA Carvalho","year":"2007","unstructured":"Carvalho VA, Caramelli P (2007) Brazilian adaptation of the Addenbrooke\u2019s Cognitive Examination-Revised (ACE-R). Dement Neuropsychol 1(2):212\u2013216. https:\/\/doi.org\/10.1590\/s1980-57642008dn10200015","journal-title":"Dement Neuropsychol"},{"issue":"4","key":"12896_CR12","doi-asserted-by":"publisher","first-page":"389","DOI":"10.1016\/j.rbp.2012.03.005","volume":"34","author":"MH Gomes-Oliveira","year":"2012","unstructured":"Gomes-Oliveira MH, Gorenstein C, Lotufo Neto F, Andrade LH, Wang YP (2012) Validation of the Brazilian Portuguese version of the Beck Depression Inventory-II in a community sample. Braz J Psychiatry 34(4):389\u2013394. https:\/\/doi.org\/10.1016\/j.rbp.2012.03.005","journal-title":"Braz J Psychiatry"},{"key":"12896_CR13","unstructured":"Carvalho VA (2022) The Brazilian version of Addenbrooke`s Cognitive Examination Revised (ACE-R) in the differential diagnosis of neurodegenerative dementias. Dissertation, University of Sao Paulo"},{"key":"12896_CR14","volume-title":"Co-planar Stereotaxic Atlas of the Human Brain","author":"J Talairach","year":"1988","unstructured":"Talairach J, Tournoux P (1988) Co-planar Stereotaxic Atlas of the Human Brain. United States of America, New York"},{"key":"12896_CR15","doi-asserted-by":"publisher","unstructured":"Fischl B, Dale AM (2000) Measuring the thickness of the human cerebral cortex from magnetic resonance images. Proc Natl Acad Sci USA 26;97(20):11050\u20135. https:\/\/doi.org\/10.1073\/pnas.200033797","DOI":"10.1073\/pnas.200033797"},{"key":"12896_CR16","doi-asserted-by":"publisher","unstructured":"Hutton C, Draganski B, Ashburner J, Weiskopf N (2009) A comparison between voxel-based cortical thickness and voxel-based morphometry in normal aging. Neuroimage 1;48(2):371\u201380. https:\/\/doi.org\/10.1016\/j.neuroimage.2009.06.043","DOI":"10.1016\/j.neuroimage.2009.06.043"},{"issue":"5","key":"12896_CR17","doi-asserted-by":"publisher","first-page":"1188","DOI":"10.1002\/jmri.20727","volume":"24","author":"J Zhuang","year":"2006","unstructured":"Zhuang J, Hrabe J, Kangarlu A, Xu D, Bansal R, Branch CA, Peterson BS (2006) Correction of eddy-current distortions in diffusion tensor images using the known directions and strengths of diffusion gradients. J Magn Reson Imaging 24(5):1188\u20131193. https:\/\/doi.org\/10.1002\/jmri.20727","journal-title":"J Magn Reson Imaging"},{"key":"12896_CR18","doi-asserted-by":"publisher","unstructured":"Woods RP, Grafton ST, Holmes CJ, Cherry SR, Mazziotta JC (1998) Automated image registration: I. General methods and intrasubject, intramodality validation. J Comput Assist Tomogr. 22(1):139\u201352. https:\/\/doi.org\/10.1097\/00004728-199801000-00027","DOI":"10.1097\/00004728-199801000-00027"},{"key":"12896_CR19","doi-asserted-by":"publisher","unstructured":"Tang X, Yoshida S, Hsu J, Huisman TA, Faria AV, Oishi K, Kutten K, Poretti A, Li Y, Miller MI, Mori S (2014) Multi-contrast multi-atlas parcellation of diffusion tensor imaging of the human brain. PLoS One 8;9(5):e96985. https:\/\/doi.org\/10.1371\/journal.pone.0096985","DOI":"10.1371\/journal.pone.0096985"},{"key":"12896_CR20","doi-asserted-by":"publisher","first-page":"62","DOI":"10.1109\/MCSE.2014.80","volume":"16","author":"J Towns","year":"2014","unstructured":"Towns J, Cockerill T, Dahan M et al (2014) XSEDE: accelerating scientific discovery. Comput Sci Eng 16:62\u201372. https:\/\/doi.org\/10.1109\/MCSE.2014.80","journal-title":"Comput Sci Eng"},{"issue":"264","key":"12896_CR21","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroimage.2022.119703","volume":"1","author":"J Faber","year":"2022","unstructured":"Faber J, K\u00fcgler D, Bahrami E et al (2022) CerebNet: A fast and reliable deep-learning pipeline for detailed cerebellum sub-segmentation. Neuroimage 1(264):119703. https:\/\/doi.org\/10.1016\/j.neuroimage.2022.119703","journal-title":"Neuroimage"},{"key":"12896_CR22","unstructured":"Cohen J (1988) Statistical power analysis for the behavioral sciences. Second edition. NJ, United States of America"},{"issue":"156","key":"12896_CR23","doi-asserted-by":"publisher","first-page":"43","DOI":"10.1016\/j.neuroimage.2017.04.035","volume":"1","author":"O Potvin","year":"2017","unstructured":"Potvin O, Dieumegarde L, Duchesne S (2017) Freesurfer cortical normative data for adults using Desikan-Killiany-Tourville and ex vivo protocols. Neuroimage 1(156):43\u201364. https:\/\/doi.org\/10.1016\/j.neuroimage.2017.04.035","journal-title":"Neuroimage"},{"key":"12896_CR24","doi-asserted-by":"publisher","unstructured":"Destrieux C, Fischl B, Dale A, Halgren E (2010) Automatic parcellation of human cortical gyri and sulci using standard anatomical nomenclature. Neuroimage 15;53(1):1\u201315. https:\/\/doi.org\/10.1016\/j.neuroimage.2010.06.010","DOI":"10.1016\/j.neuroimage.2010.06.010"},{"issue":"6","key":"12896_CR25","doi-asserted-by":"publisher","first-page":"889","DOI":"10.1007\/s00401-017-1748-0","volume":"134","author":"V Biancalana","year":"2017","unstructured":"Biancalana V, Scheidecker S, Miguet M et al (2017) Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues. Acta Neuropathol 134(6):889\u2013904. https:\/\/doi.org\/10.1007\/s00401-017-1748-0","journal-title":"Acta Neuropathol"},{"issue":"2","key":"12896_CR26","doi-asserted-by":"publisher","first-page":"326","DOI":"10.1111\/ene.13816","volume":"26","author":"T Schirinzi","year":"2019","unstructured":"Schirinzi T, Vasco G, Aiello C, Rizzo C, Sancesario A, Romano A, Favetta M, Petrarca M, Paone L, Castelli E, Bertini ES, Cappa M (2019) Natural history of a cohort of ABCD1 variant female carriers. Eur J Neurol 26(2):326\u2013332. https:\/\/doi.org\/10.1111\/ene.13816","journal-title":"Eur J Neurol"},{"issue":"4","key":"12896_CR27","doi-asserted-by":"publisher","first-page":"526","DOI":"10.1016\/j.jcmg.2012.09.017","volume":"6","author":"S Mavrogeni","year":"2013","unstructured":"Mavrogeni S, Bratis K, Papavasiliou A, Skouteli E, Karanasios E, Georgakopoulos D, Kolovou G, Papadopoulos G (2013) CMR detects subclinical cardiomyopathy in mother-carriers of Duchenne and Becker muscular dystrophy. JACC Cardiovasc Imaging 6(4):526\u2013528. https:\/\/doi.org\/10.1016\/j.jcmg.2012.09.017","journal-title":"JACC Cardiovasc Imaging"},{"issue":"7","key":"12896_CR28","doi-asserted-by":"publisher","first-page":"572","DOI":"10.1016\/j.nmd.2018.04.005","volume":"28","author":"M Ishizaki","year":"2018","unstructured":"Ishizaki M, Kobayashi M, Adachi K, Matsumura T, Kimura E (2018) Female dystrophinopathy: review of current literature. Neuromuscul Disord 28(7):572\u2013581. https:\/\/doi.org\/10.1016\/j.nmd.2018.04.005","journal-title":"Neuromuscul Disord"},{"key":"12896_CR29","doi-asserted-by":"publisher","unstructured":"Carraro L, Iosca A, Dainesi MI, Fusco S, Chieffo DPR, Moriconi F, d'Amario G, Pane M, Mercuri E, Berardinelli A (2023) Cognitive function in DMD carriers: personal case series and literature review. Acta Myol 42(2\u20133):53\u201359. https:\/\/doi.org\/10.36185\/2532-1900-354.","DOI":"10.36185\/2532-1900-354"},{"issue":"2","key":"12896_CR30","doi-asserted-by":"publisher","first-page":"122","DOI":"10.1016\/j.nmd.2017.11.018","volume":"28","author":"R Battini","year":"2018","unstructured":"Battini R, Chieffo D, Bulgheroni S, Piccini G, Pecini C, Lucibello S, Lenzi S, Moriconi F, Pane M, Astrea G, Baranello G, Alfieri P, Vicari S, Riva D, Cioni G, Mercuri E (2018) Cognitive profile in Duchenne muscular dystrophy boys without intellectual disability: The role of executive functions. Neuromuscul Disord 28(2):122\u2013128. https:\/\/doi.org\/10.1016\/j.nmd.2017.11.018","journal-title":"Neuromuscul Disord"},{"key":"12896_CR31","doi-asserted-by":"publisher","first-page":"855","DOI":"10.1038\/ejhg.2012.269","volume":"21","author":"S Mercier","year":"2013","unstructured":"Mercier S, Toutain A, Toussaint A et al (2013) Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatricage. Eur J Hum Genet 21:855\u2013863. https:\/\/doi.org\/10.1038\/ejhg.2012.269","journal-title":"Eur J Hum Genet"},{"issue":"3","key":"12896_CR32","doi-asserted-by":"publisher","first-page":"446","DOI":"10.1002\/ana.410380315","volume":"38","author":"TW Kim","year":"1995","unstructured":"Kim TW, Wu K, Black IB (1995) Deficiency of brain synaptic dystrophin in human Duchenne muscular dystrophy. Ann Neurol 38(3):446\u2013449","journal-title":"Ann Neurol"},{"key":"12896_CR33","doi-asserted-by":"publisher","unstructured":"Doorenweerd N, Straathof CS, Dumas EM, et al (2014) Reduced cerebral gray matter and altered white matter in boys with Duchenne muscular dystrophy. Ann Neurol 76(3):403\u201311. https:\/\/doi.org\/10.1002\/ana.24222","DOI":"10.1002\/ana.24222"},{"key":"12896_CR34","doi-asserted-by":"crossref","unstructured":"Doorenweerd N, Mahfouz A, van Putten M, Kaliyaperumal R, T' Hoen PAC, Hendriksen JGM, Aartsma-Rus AM, Verschuuren JJGM, Niks EH, Reinders MJT, Kan HE, Lelieveldt BPF (2017) Timing and localization of human dystrophin isoform expression provide insights into the cognitive phenotype of Duchenne muscular dystrophy. Sci Rep 7(1):12575","DOI":"10.1038\/s41598-017-12981-5"}],"container-title":["Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-025-12896-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00415-025-12896-6\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-025-12896-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,2,15]],"date-time":"2025-02-15T16:40:45Z","timestamp":1739637645000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00415-025-12896-6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1,15]]},"references-count":34,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2025,2]]}},"alternative-id":["12896"],"URL":"https:\/\/doi.org\/10.1007\/s00415-025-12896-6","relation":{},"ISSN":["0340-5354","1432-1459"],"issn-type":[{"value":"0340-5354","type":"print"},{"value":"1432-1459","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,1,15]]},"assertion":[{"value":"7 October 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"21 December 2024","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"2 January 2025","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"15 January 2025","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare no conflicts of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"Ethics Committee of Clinics Hospital at University of Campinas approved the study protocol (registered as CAAE 65.237.517.8.0000.5404). The Study was performed compliant to the Declaration of Helsinki.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}}],"article-number":"152"}}