{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T19:52:31Z","timestamp":1791921151587,"version":"4.3.4"},"reference-count":127,"publisher":"Springer Science and Business Media LLC","issue":"10","license":[{"start":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T00:00:00Z","timestamp":1788998400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T00:00:00Z","timestamp":1788998400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Eur J Pediatr"],"DOI":"10.1007\/s00431-026-07377-5","type":"journal-article","created":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T07:02:57Z","timestamp":1789023777000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Rett syndrome: MECP2 biology, multisystem pathophysiology, and the evolving therapeutic landscape"],"prefix":"10.1007","volume":"185","author":[{"given":"S. T.","family":"Gopukumar","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Madhumita","family":"Saha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sahil","family":"Bhardwaj","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kesavaperumal","family":"Gopalakrishnan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eid Semer","family":"Alatwi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rasha","family":"Alonaizan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huda A.","family":"Alqahtani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tanveen Kaur","family":"Soni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samer","family":"Shamshad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Uddalak","family":"Das","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,9,10]]},"reference":[{"issue":"6","key":"7377_CR1","doi-asserted-by":"publisher","first-page":"309","DOI":"10.1016\/j.pedneo.2011.08.002","volume":"52","author":"SM Weng","year":"2011","unstructured":"Weng SM, Bailey MES, Cobb SR (2011) Rett syndrome: from bed to bench. Pediatr Neonatol 52(6):309\u2013316. https:\/\/doi.org\/10.1016\/j.pedneo.2011.08.002","journal-title":"Pediatr Neonatol"},{"issue":"7","key":"7377_CR2","doi-asserted-by":"publisher","DOI":"10.7759\/cureus.41555","volume":"15","author":"DC Oluigbo","year":"2023","unstructured":"Oluigbo DC (2023) Rett syndrome: a tale of altered genetics, synaptic plasticity, and neurodevelopmental dynamics. Cureus 15(7):e41555. https:\/\/doi.org\/10.7759\/cureus.41555","journal-title":"Cureus"},{"issue":"2","key":"7377_CR3","doi-asserted-by":"publisher","DOI":"10.1098\/rsob.170216","volume":"8","author":"SM Kyle","year":"2018","unstructured":"Kyle SM, Vashi N, Justice MJ (2018) Rett syndrome: a neurological disorder with metabolic components. Open Biol 8(2):170216. https:\/\/doi.org\/10.1098\/rsob.170216","journal-title":"Open Biol"},{"issue":"17","key":"7377_CR4","doi-asserted-by":"publisher","DOI":"10.3390\/ijms22179610","volume":"22","author":"A Pascual-Alonso","year":"2021","unstructured":"Pascual-Alonso A, Mart\u00ednez-Monseny AF, Xiol C, Armstrong J (2021) MECP2-related disorders in males. Int J Mol Sci 22(17):9610. https:\/\/doi.org\/10.3390\/ijms22179610","journal-title":"Int J Mol Sci"},{"issue":"1","key":"7377_CR5","doi-asserted-by":"publisher","first-page":"13","DOI":"10.1038\/gim.2016.42","volume":"19","author":"SA Sajan","year":"2017","unstructured":"Sajan SA, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, Glaze DG, Kaufmann WE, Skinner SA, Annese F, Friez MJ, Lane J, Percy AK, Neul JL (2017) Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2. Genet Med 19(1):13\u201319. https:\/\/doi.org\/10.1038\/gim.2016.42","journal-title":"Genet Med"},{"key":"7377_CR6","doi-asserted-by":"publisher","unstructured":"Neul JL, Kaufmann WE, Glaze DG, Christodoulou J, Clarke AJ, Bahi-Buisson N, Leonard H, Bailey MES, Schanen NC, Zappella M, Renieri A, Huppke P, Percy AK, RettSearch Consortium. Rett syndrome: revised diagnostic criteria and nomenclature. Ann Neurol. 2010 Dec;68(6):944\u201350. https:\/\/doi.org\/10.1002\/ana.22124 PubMed PMID: 21154482; PubMed Central PMCID: PMC3058521.","DOI":"10.1002\/ana.22124"},{"issue":"2","key":"7377_CR7","doi-asserted-by":"publisher","first-page":"231","DOI":"10.1007\/s12017-014-8295-9","volume":"16","author":"VRB Liyanage","year":"2014","unstructured":"Liyanage VRB, Rastegar M (2014) Rett syndrome and MeCP2. Neuromolecular Med 16(2):231\u2013264. https:\/\/doi.org\/10.1007\/s12017-014-8295-9","journal-title":"Neuromolecular Med"},{"issue":"15","key":"7377_CR8","doi-asserted-by":"publisher","DOI":"10.3390\/ijms20153813","volume":"20","author":"U Kahanovitch","year":"2019","unstructured":"Kahanovitch U, Patterson KC, Hernandez R, Olsen ML (2019) Glial dysfunction in MeCP2 deficiency models: implications for Rett syndrome. Int J Mol Sci 20(15):3813. https:\/\/doi.org\/10.3390\/ijms20153813","journal-title":"Int J Mol Sci"},{"key":"7377_CR9","doi-asserted-by":"publisher","DOI":"10.3389\/fnmol.2017.00316","volume":"10","author":"XR Jin","year":"2017","unstructured":"Jin XR, Chen XS, Xiao L (2017) MeCP2 deficiency in neuroglia: new progress in the pathogenesis of Rett syndrome. Front Mol Neurosci 10:316. https:\/\/doi.org\/10.3389\/fnmol.2017.00316","journal-title":"Front Mol Neurosci"},{"key":"7377_CR10","doi-asserted-by":"publisher","first-page":"1477227","DOI":"10.3389\/fendo.2024.1477227PubMedPMID:39544232;PubMedCentralPMCID:PMC11560452","volume":"15","author":"G Pepe","year":"2024","unstructured":"Pepe G, Coco R, Corica D, Luppino G, Morabito LA, Lugar\u00e0 C, Abbate T, Zirilli G, Aversa T, Stagi S, Wasniewska M (2024) Endocrine disorders in Rett syndrome: a systematic review of the literature. Front Endocrinol 15:1477227. https:\/\/doi.org\/10.3389\/fendo.2024.1477227PubMedPMID:39544232;PubMedCentralPMCID:PMC11560452","journal-title":"Front Endocrinol"},{"issue":"5815","key":"7377_CR11","doi-asserted-by":"publisher","first-page":"1143","DOI":"10.1126\/science.1138389","volume":"315","author":"J Guy","year":"2007","unstructured":"Guy J, Gan J, Selfridge J, Cobb S, Bird A (2007) Reversal of neurological defects in a mouse model of Rett syndrome. Science 315(5815):1143\u20131147. https:\/\/doi.org\/10.1126\/science.1138389","journal-title":"Science"},{"issue":"5\u20136","key":"7377_CR12","doi-asserted-by":"publisher","first-page":"90","DOI":"10.1007\/s00335-019-09793-5PubMedPMID:30820643;PubMedCentralPMCID:PMC6606665","volume":"30","author":"N Vashi","year":"2019","unstructured":"Vashi N, Justice MJ (2019) Treating Rett syndrome: from mouse models to human therapies. Mamm Genome Off J Int Mamm Genome Soc 30(5\u20136):90\u2013110. https:\/\/doi.org\/10.1007\/s00335-019-09793-5PubMedPMID:30820643;PubMedCentralPMCID:PMC6606665","journal-title":"Mamm Genome Off J Int Mamm Genome Soc"},{"key":"7377_CR13","doi-asserted-by":"publisher","first-page":"573","DOI":"10.1007\/978-1-4939-9554-7_33","volume":"2011","author":"EWM Chin","year":"2019","unstructured":"Chin EWM, Goh ELK (2019) MeCP2 Dysfunction in Rett syndrome and neuropsychiatric disorders. Methods Mol Biol Clifton NJ 2011:573\u2013591. https:\/\/doi.org\/10.1007\/978-1-4939-9554-7_33","journal-title":"Methods Mol Biol Clifton NJ"},{"issue":"2","key":"7377_CR14","doi-asserted-by":"publisher","first-page":"160","DOI":"10.1002\/ajmg.a.63396PubMedPMID:37768187;PubMedCentralPMCID:PMC11911005","volume":"194","author":"X Fang","year":"2024","unstructured":"Fang X, Baggett LM, Caylor RC, Percy AK, Neul JL, Lane JB, Glaze DG, Benke TA, Marsh ED, Motil KJ, Barrish JO, Annese FE, Skinner SA (2024) Parental age effects and Rett syndrome. Am J Med Genet A 194(2):160\u2013173. https:\/\/doi.org\/10.1002\/ajmg.a.63396PubMedPMID:37768187;PubMedCentralPMCID:PMC11911005","journal-title":"Am J Med Genet A"},{"issue":"1","key":"7377_CR15","doi-asserted-by":"publisher","first-page":"84","DOI":"10.1038\/s41572-024-00568-0","volume":"10","author":"WA Gold","year":"2024","unstructured":"Gold WA, Percy AK, Neul JL, Cobb SR, Pozzo-Miller L, Issar JK, Ben-Zeev B, Vignoli A, Kaufmann WE (2024) Rett syndrome Nat Rev Dis Primer 10(1):84. https:\/\/doi.org\/10.1038\/s41572-024-00568-0","journal-title":"Rett syndrome Nat Rev Dis Primer"},{"issue":"10","key":"7377_CR16","doi-asserted-by":"publisher","first-page":"601","DOI":"10.1038\/s10038-022-01044-x","volume":"67","author":"JA Kim","year":"2022","unstructured":"Kim JA, Kwon WK, Kim JW, Jang JH (2022) Variation spectrum of MECP2 in Korean patients with Rett and Rett-like syndrome: a literature review and re-evaluation of variants based on the ClinGen guideline. J Hum Genet 67(10):601\u2013606. https:\/\/doi.org\/10.1038\/s10038-022-01044-x","journal-title":"J Hum Genet"},{"issue":"6","key":"7377_CR17","doi-asserted-by":"publisher","first-page":"368","DOI":"10.1038\/s41583-018-0006-3","volume":"19","author":"JPK Ip","year":"2018","unstructured":"Ip JPK, Mellios N, Sur M (2018) Rett syndrome: insights into genetic, molecular and circuit mechanisms. Nat Rev Neurosci 19(6):368\u201382. https:\/\/doi.org\/10.1038\/s41583-018-0006-3","journal-title":"Nat Rev Neurosci"},{"issue":"5","key":"7377_CR18","doi-asserted-by":"publisher","first-page":"261","DOI":"10.1038\/nrg3897","volume":"16","author":"MJ Lyst","year":"2015","unstructured":"Lyst MJ, Bird A (2015) Rett syndrome: a complex disorder with simple roots. Nat Rev Genet 16(5):261\u2013275. https:\/\/doi.org\/10.1038\/nrg3897","journal-title":"Nat Rev Genet"},{"issue":"12","key":"7377_CR19","doi-asserted-by":"publisher","first-page":"1943","DOI":"10.1016\/j.neuron.2024.04.007","volume":"112","author":"Y Liu","year":"2024","unstructured":"Liu Y, Flamier A, Bell GW, Diao AJ, Whitfield TW, Wang HC, Wu Y, Schulte F, Friesen M, Guo R, Mitalipova M, Liu XS, Vos SM, Young RA, Jaenisch R (2024) MECP2 directly interacts with RNA polymerase II to modulate transcription in human neurons. Neuron 112(12):1943-1958.e10. https:\/\/doi.org\/10.1016\/j.neuron.2024.04.007","journal-title":"Neuron"},{"issue":"1","key":"7377_CR20","doi-asserted-by":"publisher","first-page":"687","DOI":"10.1007\/s11033-025-10802-x","volume":"52","author":"NE Ali","year":"2025","unstructured":"Ali NE, Tariq N, Naz G, Abalkhail A, Kausar T, Mazhar I, Zia S, Aqib AI, Khan NU (2025) Rett syndrome: advances in understanding MeCP2 function, potential gene therapies, and public health implications. Mol Biol Rep 52(1):687. https:\/\/doi.org\/10.1007\/s11033-025-10802-x","journal-title":"Mol Biol Rep"},{"issue":"5","key":"7377_CR21","doi-asserted-by":"publisher","first-page":"594","DOI":"10.3390\/genes15050594PubMedPMID:38790223;PubMedCentralPMCID:PMC11120815","volume":"15","author":"JK Merritt","year":"2024","unstructured":"Merritt JK, Fang X, Caylor RC, Skinner SA, Friez MJ, Percy AK, Neul JL (2024) Normalized clinical severity scores reveal a correlation between X chromosome inactivation and disease severity in Rett syndrome. Genes 15(5):594. https:\/\/doi.org\/10.3390\/genes15050594PubMedPMID:38790223;PubMedCentralPMCID:PMC11120815","journal-title":"Genes"},{"issue":"7","key":"7377_CR22","doi-asserted-by":"publisher","DOI":"10.3390\/biology12070956","volume":"12","author":"G Golubiani","year":"2023","unstructured":"Golubiani G, van Agen L, Tsverava L, Solomonia R, M\u00fcller M (2023) Mitochondrial proteome changes in Rett syndrome. Biology (Basel) 12(7):956. https:\/\/doi.org\/10.3390\/biology12070956","journal-title":"Biology (Basel)"},{"issue":"1","key":"7377_CR23","doi-asserted-by":"publisher","DOI":"10.1186\/s40246-023-00532-1","volume":"17","author":"A Pascual-Alonso","year":"2023","unstructured":"Pascual-Alonso A, Xiol C, Smirnov D, Kopajtich R, Prokisch H, Armstrong J (2023) Identification of molecular signatures and pathways involved in Rett syndrome using a multi-omics approach. Hum Genomics 17(1):85. https:\/\/doi.org\/10.1186\/s40246-023-00532-1","journal-title":"Hum Genomics"},{"key":"7377_CR24","doi-asserted-by":"publisher","first-page":"1332469","DOI":"10.3389\/fgene.2024.1332469PubMedPMID:38410154;PubMedCentralPMCID:PMC10895005","volume":"15","author":"K Allison","year":"2024","unstructured":"Allison K, Maletic-Savatic M, Pehlivan D (2024) MECP2-related disorders while gene-based therapies are on the horizon. Front Genet 15:1332469. https:\/\/doi.org\/10.3389\/fgene.2024.1332469PubMedPMID:38410154;PubMedCentralPMCID:PMC10895005","journal-title":"Front Genet"},{"issue":"5","key":"7377_CR25","doi-asserted-by":"publisher","first-page":"1079","DOI":"10.1002\/ajmg.a.33184PubMedPMID:20425814;PubMedCentralPMCID:PMC2861792","volume":"152A","author":"MB Ramocki","year":"2010","unstructured":"Ramocki MB, Tavyev YJ, Peters SU (2010) The MECP2 duplication syndrome. Am J Med Genet A 152A(5):1079\u20131088. https:\/\/doi.org\/10.1002\/ajmg.a.33184PubMedPMID:20425814;PubMedCentralPMCID:PMC2861792","journal-title":"Am J Med Genet A"},{"issue":"1","key":"7377_CR26","doi-asserted-by":"publisher","first-page":"131","DOI":"10.1186\/s13023-022-02278-w","volume":"17","author":"D Ta","year":"2022","unstructured":"Ta D, Downs J, Baynam G, Wilson A, Richmond P, Leonard H (2022) A brief history of MECP2 duplication syndrome: 20-years of clinical understanding. Orphanet J Rare Dis 17(1):131. https:\/\/doi.org\/10.1186\/s13023-022-02278-w","journal-title":"Orphanet J Rare Dis"},{"key":"7377_CR27","doi-asserted-by":"publisher","first-page":"2813","DOI":"10.2147\/NDT.S371483","volume":"18","author":"BE Collins","year":"2022","unstructured":"Collins BE, Neul JL (2022) Rett syndrome and MECP2 duplication syndrome: disorders of MeCP2 dosage. Neuropsychiatr Dis Treat 18:2813\u20132835. https:\/\/doi.org\/10.2147\/NDT.S371483","journal-title":"Neuropsychiatr Dis Treat"},{"issue":"1","key":"7377_CR28","doi-asserted-by":"publisher","DOI":"10.3390\/biom11010075","volume":"11","author":"S Pejhan","year":"2021","unstructured":"Pejhan S, Rastegar M (2021) Role of DNA methyl-CpG-binding protein MeCP2 in Rett syndrome pathobiology and mechanism of disease. Biomolecules 11(1):75. https:\/\/doi.org\/10.3390\/biom11010075","journal-title":"Biomolecules"},{"issue":"16","key":"7377_CR29","doi-asserted-by":"publisher","DOI":"10.3390\/ijms20163925","volume":"20","author":"S Vidal","year":"2019","unstructured":"Vidal S, Xiol C, Pascual-Alonso A, O\u2019Callaghan M, Pineda M, Armstrong J (2019) Genetic landscape of Rett syndrome spectrum: improvements and challenges. Int J Mol Sci 20(16):3925. https:\/\/doi.org\/10.3390\/ijms20163925","journal-title":"Int J Mol Sci"},{"issue":"7","key":"7377_CR30","doi-asserted-by":"publisher","first-page":"617","DOI":"10.1038\/jhg.2016.19","volume":"61","author":"D Zahorakova","year":"2016","unstructured":"Zahorakova D, Lelkova P, Gregor V, Magner M, Zeman J, Martasek P (2016) MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype-phenotype correlations and validation of high-resolution melting analysis for mutation scanning. J Hum Genet 61(7):617\u2013625. https:\/\/doi.org\/10.1038\/jhg.2016.19","journal-title":"J Hum Genet"},{"issue":"10","key":"7377_CR31","doi-asserted-by":"publisher","first-page":"4767","DOI":"10.1007\/s10072-024-07584-8","volume":"45","author":"M Abo Zeid","year":"2024","unstructured":"Abo Zeid M, Elrosasy A, Mohamed RG, Ghazou A, Goufa E, Hassan N, Abuzaid Y (2024) A meta-analysis of the efficacy and safety of trofinetide in patients with Rett syndrome. Neurol Sci 45(10):4767\u20134778. https:\/\/doi.org\/10.1007\/s10072-024-07584-8","journal-title":"Neurol Sci"},{"issue":"1","key":"7377_CR32","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-025-61092-7","volume":"16","author":"S Lou","year":"2025","unstructured":"Lou S, DJiake Tihagam R, Wasko UN, Equbal Z, Venkatesan S, Braczyk K, Przanowski P, Il Koo B, Saltani I, Singh AT, Likhite S, Powers S, Souza GMPR, Maxwell RA, Yu J, Zhu LJ, Beenhakker M, Abbott SBG, Lu Z, Green MR, Meyer KC, Tushir-Singh J, Bhatnagar S (2025) Targeting microRNA-dependent control of X chromosome inactivation improves the Rett syndrome phenotype. Nat Commun 16(1):6169. https:\/\/doi.org\/10.1038\/s41467-025-61092-7","journal-title":"Nat Commun"},{"issue":"679","key":"7377_CR33","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.add4666","volume":"15","author":"J Qian","year":"2023","unstructured":"Qian J, Guan X, Xie B, Xu C, Niu J, Tang X, Li CH, Colecraft HM, Jaenisch R, Liu XS (2023) Multiplex epigenome editing of MECP2 to rescue Rett syndrome neurons. Sci Transl Med 15(679):eadd4666. https:\/\/doi.org\/10.1126\/scitranslmed.add4666","journal-title":"Sci Transl Med"},{"issue":"3","key":"7377_CR34","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1122PubMedPMID:31943886;PubMedCentralPMCID:PMC7057091","volume":"8","author":"S Takahashi","year":"2020","unstructured":"Takahashi S, Takeguchi R, Kuroda M, Tanaka R (2020) Atypical Rett syndrome in a girl with mosaic triple X and MECP2 variant. Mol Genet Genomic Med 8(3):e1122. https:\/\/doi.org\/10.1002\/mgg3.1122PubMedPMID:31943886;PubMedCentralPMCID:PMC7057091","journal-title":"Mol Genet Genomic Med"},{"issue":"4","key":"7377_CR35","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2025.104371","volume":"47","author":"Y Akaba","year":"2025","unstructured":"Akaba Y, Takahashi S (2025) MECP2 duplication syndrome: recent advances in pathophysiology and therapeutic perspectives. Brain Dev 47(4):104371. https:\/\/doi.org\/10.1016\/j.braindev.2025.104371","journal-title":"Brain Dev"},{"issue":"8","key":"7377_CR36","doi-asserted-by":"publisher","first-page":"639","DOI":"10.1007\/s13238-020-00773-z","volume":"12","author":"X Chen","year":"2021","unstructured":"Chen X, Han X, Blanchi B, Guan W, Ge W, Yu YC, Sun YE (2021) Graded and pan-neural disease phenotypes of Rett syndrome linked with dosage of functional MeCP2. Protein Cell 12(8):639\u201352. https:\/\/doi.org\/10.1007\/s13238-020-00773-z","journal-title":"Protein Cell"},{"issue":"18","key":"7377_CR37","doi-asserted-by":"publisher","DOI":"10.3390\/ijms22189954","volume":"22","author":"F Haase","year":"2021","unstructured":"Haase F, Gloss BS, Tam PPL, Gold WA (2021) WGCNA identifies translational and proteasome-ubiquitin dysfunction in Rett syndrome. Int J Mol Sci 22(18):9954. https:\/\/doi.org\/10.3390\/ijms22189954","journal-title":"Int J Mol Sci"},{"issue":"1","key":"7377_CR38","doi-asserted-by":"publisher","first-page":"249","DOI":"10.4103\/0028-3886.338714","volume":"70","author":"A Anitha","year":"2022","unstructured":"Anitha A, Poovathinal SA, Viswambharan V, Thanseem I, Iype M, Anoop U, Sumitha PS, Parakkal R, Vasu MM (2022) MECP2 mutations in the Rett syndrome patients from South India. Neurol India 70(1):249\u201353. https:\/\/doi.org\/10.4103\/0028-3886.338714","journal-title":"Neurol India"},{"key":"7377_CR39","doi-asserted-by":"publisher","first-page":"3","DOI":"10.3389\/frsle.2024.1373489","volume":"21","author":"K Bricker","year":"2024","unstructured":"Bricker K, Vaughn BV (2024) Rett syndrome: a review of clinical manifestations and therapeutic approaches. Front Sleep 21:3. https:\/\/doi.org\/10.3389\/frsle.2024.1373489","journal-title":"Front Sleep"},{"key":"7377_CR40","doi-asserted-by":"publisher","first-page":"593","DOI":"10.1007\/978-1-4939-9554-7_34","volume":"2011","author":"EWM Chin","year":"2019","unstructured":"Chin EWM, Goh ELK (2019) Behavioral characterization of MeCP2 dysfunction-associated Rett syndrome and neuropsychiatric disorders. Methods Mol Biol Clifton NJ 2011:593\u2013605. https:\/\/doi.org\/10.1007\/978-1-4939-9554-7_34","journal-title":"Methods Mol Biol Clifton NJ"},{"key":"7377_CR41","doi-asserted-by":"publisher","unstructured":"Li Y, Anderson AG, Qi G, Wu SR, Revelli JP, Liu Z, Zoghbi HY. Early transcriptional signatures of MeCP2 positive and negative cells in Rett syndrome. BioRxiv Prepr Serv Biol. 2025 Jun 26;2025.06.26.661761. https:\/\/doi.org\/10.1101\/2025.06.26.661761 PubMed PMID: 40667054; PubMed Central PMCID: PMC12262336.","DOI":"10.1101\/2025.06.26.661761"},{"key":"7377_CR42","doi-asserted-by":"publisher","first-page":"154","DOI":"10.1016\/j.neubiorev.2018.12.009","volume":"98","author":"M M\u00fcller","year":"2019","unstructured":"M\u00fcller M (2019) Disturbed redox homeostasis and oxidative stress: potential players in the developmental regression in Rett syndrome. Neurosci Biobehav Rev 98:154\u201363. https:\/\/doi.org\/10.1016\/j.neubiorev.2018.12.009","journal-title":"Neurosci Biobehav Rev"},{"issue":"7","key":"7377_CR43","doi-asserted-by":"publisher","first-page":"1204","DOI":"10.1002\/aur.1774","volume":"10","author":"L Chin Wong","year":"2017","unstructured":"Chin Wong L, Hung PL, Jan TY, Lee WT, Taiwan Rett Syndrome Association (2017) Variations of stereotypies in individuals with Rett syndrome: a nationwide cross-sectional study in Taiwan. Autism Res 10(7):1204\u20131214. https:\/\/doi.org\/10.1002\/aur.1774","journal-title":"Autism Res"},{"issue":"6","key":"7377_CR44","doi-asserted-by":"publisher","DOI":"10.7759\/cureus.86953","volume":"17","author":"R Lazek","year":"2025","unstructured":"Lazek R, Karoum A, Fathalla W (2025) Genotype-phenotype correlation and therapeutic amenability in a cohort of Rett syndrome patients: a single-center study. Cureus 17(6):e86953. https:\/\/doi.org\/10.7759\/cureus.86953","journal-title":"Cureus"},{"issue":"1","key":"7377_CR45","doi-asserted-by":"publisher","DOI":"10.1007\/s00018-024-05409-7","volume":"81","author":"N Bahram Sangani","year":"2024","unstructured":"Bahram Sangani N, Koetsier J, Gomes AR, Diogo MM, Fernandes TG, Bouwman FG, Mariman ECM, Ghazvini M, Gribnau J, Curfs LMG, Reutelingsperger CP, Eijssen LMT (2024) Involvement of extracellular vesicle microRNA clusters in developing healthy and Rett syndrome brain organoids. Cell Mol Life Sci 81(1):410. https:\/\/doi.org\/10.1007\/s00018-024-05409-7","journal-title":"Cell Mol Life Sci"},{"issue":"2","key":"7377_CR46","doi-asserted-by":"publisher","DOI":"10.3390\/brainsci14020120","volume":"14","author":"AG Lopes","year":"2024","unstructured":"Lopes AG, Loganathan SK, Caliaperumal J (2024) Rett syndrome and the role of MECP2: signaling to clinical trials. Brain Sci 14(2):120. https:\/\/doi.org\/10.3390\/brainsci14020120","journal-title":"Brain Sci"},{"issue":"1","key":"7377_CR47","doi-asserted-by":"publisher","DOI":"10.1136\/bmjpo-2020-000717PubMedPMID:32984552;PubMedCentralPMCID:PMC7488790","volume":"4","author":"C Fu","year":"2020","unstructured":"Fu C, Armstrong D, Marsh E, Lieberman D, Motil K, Witt R, Standridge S, Nues P, Lane J, Dinkel T, Coenraads M, von Hehn J, Jones M, Hale K, Suter B, Glaze D, Neul J, Percy A, Benke T (2020) Consensus guidelines on managing Rett syndrome across the lifespan. BMJ Paediatr Open 4(1):e000717. https:\/\/doi.org\/10.1136\/bmjpo-2020-000717PubMedPMID:32984552;PubMedCentralPMCID:PMC7488790","journal-title":"BMJ Paediatr Open"},{"issue":"19\u201320","key":"7377_CR48","doi-asserted-by":"publisher","first-page":"883","DOI":"10.1101\/gad.350733.123PubMedPMID:37890975;PubMedCentralPMCID:PMC10691473","volume":"37","author":"J Zhou","year":"2023","unstructured":"Zhou J, Cattoglio C, Shao Y, Tirumala HP, Vetralla C, Bajikar SS, Li Y, Chen H, Wang Q, Wu Z, Tang B, Zahabiyon M, Bajic A, Meng X, Ferrie JJ, LaGrone A, Zhang P, Kim JJ, Tang J, Liu Z, Darzacq X, Heintz N, Tjian R, Zoghbi HY (2023) A novel pathogenic mutation of MeCP2 impairs chromatin association independent of protein levels. Genes Dev 37(19\u201320):883\u2013900. https:\/\/doi.org\/10.1101\/gad.350733.123PubMedPMID:37890975;PubMedCentralPMCID:PMC10691473","journal-title":"Genes Dev"},{"issue":"8","key":"7377_CR49","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1055\/s-0044-1787801","volume":"82","author":"M Carvalho","year":"2024","unstructured":"Carvalho M, Cavalcante TT, Oliveira PS, Naves PVF, Cunha PEL (2024) Rett syndrome due to mutation in the MECP2 gene and electroencephalographic findings. Arq Neuropsiquiatr 82(8):1\u20132. https:\/\/doi.org\/10.1055\/s-0044-1787801","journal-title":"Arq Neuropsiquiatr"},{"key":"7377_CR50","doi-asserted-by":"publisher","DOI":"10.3389\/fnins.2022.835964","volume":"16","author":"T Shiohama","year":"2022","unstructured":"Shiohama T, Tsujimura K (2022) Quantitative structural brain magnetic resonance imaging analyses: methodological overview and application to Rett syndrome. Front Neurosci 16:835964. https:\/\/doi.org\/10.3389\/fnins.2022.835964","journal-title":"Front Neurosci"},{"key":"7377_CR51","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2022.838206","volume":"13","author":"Y Kong","year":"2022","unstructured":"Kong Y, Li QB, Yuan ZH, Jiang XF, Zhang GQ, Cheng N, Dang N (2022) Multimodal neuroimaging in Rett syndrome with MECP2 mutation. Front Neurol 13:838206. https:\/\/doi.org\/10.3389\/fneur.2022.838206","journal-title":"Front Neurol"},{"issue":"1","key":"7377_CR52","doi-asserted-by":"publisher","DOI":"10.1111\/gbb.12739","volume":"21","author":"BE Collins","year":"2022","unstructured":"Collins BE, Merritt JK, Erickson KR, Neul JL (2022) Safety and efficacy of genetic MECP2 supplementation in the R294X mouse model of Rett syndrome. Genes Brain Behav 21(1):e12739. https:\/\/doi.org\/10.1111\/gbb.12739","journal-title":"Genes Brain Behav"},{"issue":"3","key":"7377_CR53","doi-asserted-by":"publisher","first-page":"189","DOI":"10.1002\/cns3.20086","volume":"2","author":"AK Percy","year":"2024","unstructured":"Percy AK, Benke TA, Marsh ED, Neul JL (2024) Rett syndrome: the natural history study journey. Ann Child Neurol Soc 2(3):189\u2013205. https:\/\/doi.org\/10.1002\/cns3.20086","journal-title":"Ann Child Neurol Soc"},{"issue":"1","key":"7377_CR54","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1186\/s11689-022-09432-2PubMedPMID:35568815;PubMedCentralPMCID:PMC9107202","volume":"14","author":"CB Buchanan","year":"2022","unstructured":"Buchanan CB, Stallworth JL, Joy AE, Dixon RE, Scott AE, Beisang AA, Benke TA, Glaze DG, Haas RH, Heydemann PT, Jones MD, Lane JB, Lieberman DN, Marsh ED, Neul JL, Peters SU, Ryther RC, Skinner SA, Standridge SM, Kaufmann WE, Percy AK (2022) Anxiety-like behavior and anxiolytic treatment in the Rett syndrome natural history study. J Neurodev Disord 14(1):31. https:\/\/doi.org\/10.1186\/s11689-022-09432-2PubMedPMID:35568815;PubMedCentralPMCID:PMC9107202","journal-title":"J Neurodev Disord"},{"issue":"22","key":"7377_CR55","doi-asserted-by":"publisher","first-page":"e2594","DOI":"10.1212\/WNL.0000000000007560PubMedPMID:31053667;PubMedCentralPMCID:PMC6556084","volume":"92","author":"JL Stallworth","year":"2019","unstructured":"Stallworth JL, Dy ME, Buchanan CB, Chen CF, Scott AE, Glaze DG, Lane JB, Lieberman DN, Oberman LM, Skinner SA, Tierney AE, Cutter GR, Percy AK, Neul JL, Kaufmann WE (2019) Hand stereotypies: lessons from the Rett syndrome natural history study. Neurology 92(22):e2594\u2013e2603. https:\/\/doi.org\/10.1212\/WNL.0000000000007560PubMedPMID:31053667;PubMedCentralPMCID:PMC6556084","journal-title":"Neurology"},{"issue":"8","key":"7377_CR56","doi-asserted-by":"publisher","DOI":"10.3390\/genes14081607","volume":"14","author":"S Vilvarajan","year":"2023","unstructured":"Vilvarajan S, McDonald M, Douglas L, Newham J, Kirkland R, Tzannes G, Tay D, Christodoulou J, Thompson S, Ellaway C (2023) Multidisciplinary management of Rett syndrome: twenty years\u2019 experience. Genes (Basel) 14(8):1607. https:\/\/doi.org\/10.3390\/genes14081607","journal-title":"Genes (Basel)"},{"issue":"23","key":"7377_CR57","doi-asserted-by":"publisher","first-page":"4077","DOI":"10.1093\/hmg\/ddy301","volume":"27","author":"A Vogel Ciernia","year":"2018","unstructured":"Vogel Ciernia A, Yasui DH, Pride MC, Durbin-Johnson B, Noronha AB, Chang A, Knotts TA, Rutkowsky JR, Ramsey JJ, Crawley JN, LaSalle JM (2018) MeCP2 isoform e1 mutant mice recapitulate motor and metabolic phenotypes of Rett syndrome. Hum Mol Genet 27(23):4077\u20134093. https:\/\/doi.org\/10.1093\/hmg\/ddy301","journal-title":"Hum Mol Genet"},{"key":"7377_CR58","doi-asserted-by":"publisher","first-page":"1229553","DOI":"10.3389\/fped.2023.1229553PubMedPMID:37635789;PubMedCentralPMCID:PMC10450502","volume":"11","author":"AK Percy","year":"2023","unstructured":"Percy AK, Neul JL, Benke TA, Marsh ED, Glaze DG (2023) A review of the Rett Syndrome behaviour questionnaire and its utilization in the assessment of symptoms associated with Rett syndrome. Front Pediatr 11:1229553. https:\/\/doi.org\/10.3389\/fped.2023.1229553PubMedPMID:37635789;PubMedCentralPMCID:PMC10450502","journal-title":"Front Pediatr"},{"key":"7377_CR59","doi-asserted-by":"publisher","DOI":"10.1016\/j.abb.2024.110046","volume":"757","author":"V Cordone","year":"2024","unstructured":"Cordone V (2024) Biochemical and molecular determinants of the subclinical inflammatory mechanisms in Rett syndrome. Arch Biochem Biophys 757:110046. https:\/\/doi.org\/10.1016\/j.abb.2024.110046","journal-title":"Arch Biochem Biophys"},{"key":"7377_CR60","doi-asserted-by":"publisher","DOI":"10.1016\/j.brainres.2019.146644","volume":"1729","author":"MC Ribeiro","year":"2020","unstructured":"Ribeiro MC, MacDonald JL (2020) Sex differences in Mecp2-mutant Rett syndrome model mice and the impact of cellular mosaicism in phenotype development. Brain Res 1729:146644. https:\/\/doi.org\/10.1016\/j.brainres.2019.146644","journal-title":"Brain Res"},{"key":"7377_CR61","doi-asserted-by":"publisher","DOI":"10.26599\/CO.2026.9410024","author":"J Long","year":"2026","unstructured":"Long J, Han X (2026) Brain organoids and brain disease organoids modeling in the age of artificial intelligence. Cell Organoid. https:\/\/doi.org\/10.26599\/CO.2026.9410024","journal-title":"Cell Organoid"},{"issue":"10","key":"7377_CR62","doi-asserted-by":"publisher","first-page":"759","DOI":"10.1093\/ijnp\/pyab037PubMedPMID:34216465;PubMedCentralPMCID:PMC8538891","volume":"24","author":"J Unterholzner","year":"2021","unstructured":"Unterholzner J, Millischer V, Wotawa C, Sawa A, Lanzenberger R (2021) Making sense of patient-derived iPSCs, transdifferentiated neurons, olfactory neuronal cells, and cerebral organoids as models for psychiatric disorders. Int J Neuropsychopharmacol 24(10):759\u2013775. https:\/\/doi.org\/10.1093\/ijnp\/pyab037PubMedPMID:34216465;PubMedCentralPMCID:PMC8538891","journal-title":"Int J Neuropsychopharmacol"},{"issue":"1","key":"7377_CR63","doi-asserted-by":"publisher","first-page":"18","DOI":"10.1111\/nyas.14012","volume":"1471","author":"MC Silva","year":"2020","unstructured":"Silva MC, Haggarty SJ (2020) Human pluripotent stem cell-derived models and drug screening in CNS precision medicine. Ann N Y Acad Sci 1471(1):18\u201356. https:\/\/doi.org\/10.1111\/nyas.14012","journal-title":"Ann N Y Acad Sci"},{"key":"7377_CR64","doi-asserted-by":"publisher","DOI":"10.3389\/fcell.2020.610427PubMedPMID:33363173;PubMedCentralPMCID:PMC7758274","volume":"8","author":"AR Gomes","year":"2020","unstructured":"Gomes AR, Fernandes TG, Vaz SH, Silva TP, Bekman EP, Xapelli S, Duarte S, Ghazvini M, Gribnau J, Muotri AR, Trujillo CA, Sebasti\u00e3o AM, Cabral JMS, Diogo MM (2020) Modeling Rett syndrome with human patient-specific forebrain organoids. Front Cell Dev Biol 8:610427. https:\/\/doi.org\/10.3389\/fcell.2020.610427PubMedPMID:33363173;PubMedCentralPMCID:PMC7758274","journal-title":"Front Cell Dev Biol"},{"issue":"1","key":"7377_CR65","doi-asserted-by":"publisher","first-page":"20","DOI":"10.1186\/s13578-025-01515-6","volume":"16","author":"L Tong","year":"2025","unstructured":"Tong L, Tian P, Wang R, Niu S, Wang R, Ye Y, Wu Y, Zhang W, Wang Y, Foggetti A, Chen D (2025) Pluripotent stem cells-based neural organoids for modelling human brain development and diseases. Cell Biosci 16(1):20. https:\/\/doi.org\/10.1186\/s13578-025-01515-6","journal-title":"Cell Biosci"},{"issue":"9","key":"7377_CR66","doi-asserted-by":"publisher","first-page":"819","DOI":"10.1007\/s40265-023-01883-8","volume":"83","author":"SJ Keam","year":"2023","unstructured":"Keam SJ (2023) Trofinetide: first approval. Drugs 83(9):819\u2013824. https:\/\/doi.org\/10.1007\/s40265-023-01883-8","journal-title":"Drugs"},{"key":"7377_CR67","doi-asserted-by":"publisher","DOI":"10.3389\/fphar.2023.1284035","volume":"14","author":"M Furqan","year":"2023","unstructured":"Furqan M (2023) Trofinetide-a new chapter in Rett syndrome\u2019s treatment. Front Pharmacol 14:1284035. https:\/\/doi.org\/10.3389\/fphar.2023.1284035","journal-title":"Front Pharmacol"},{"key":"7377_CR68","doi-asserted-by":"publisher","unstructured":"Rashid N, Yakkala VK, Syed SS, Rajagopalan K. Real-world treatment landscape of individuals with Rett syndrome treated and untreated with trofinetide in the United States. J Health Econ Outcomes Res. 2026 Jun 11;13(1). https:\/\/doi.org\/10.36469\/001c.162589","DOI":"10.36469\/001c.162589"},{"issue":"9","key":"7377_CR69","doi-asserted-by":"publisher","first-page":"1178","DOI":"10.1016\/j.medj.2024.05.018","volume":"5","author":"AK Percy","year":"2024","unstructured":"Percy AK, Neul JL, Benke TA, Berry-Kravis EM, Glaze DG, Marsh ED, An D, Bishop KM, Youakim JM (2024) Trofinetide for the treatment of Rett syndrome: results from the open-label extension LILAC study. Med 5(9):1178-1189.e3. https:\/\/doi.org\/10.1016\/j.medj.2024.05.018","journal-title":"Med"},{"issue":"4","key":"7377_CR70","doi-asserted-by":"publisher","first-page":"262","DOI":"10.5582\/irdr.2023.01060","volume":"12","author":"A Singh","year":"2023","unstructured":"Singh A, Balasundaram MK, Gupta D (2023) Trofinetide in Rett syndrome: a brief review of safety and efficacy. Intractable Rare Dis Res 12(4):262\u2013266. https:\/\/doi.org\/10.5582\/irdr.2023.01060","journal-title":"Intractable Rare Dis Res"},{"issue":"3","key":"7377_CR71","doi-asserted-by":"publisher","first-page":"407","DOI":"10.1111\/dmcn.16482","volume":"68","author":"L Cosand","year":"2026","unstructured":"Cosand L, Mayman H, Downs J, Abler V (2026) Real-world benefits and tolerability of trofinetide for the treatment of Rett syndrome: the LOTUS study. Dev Med Child Neurol 68(3):407\u2013417. https:\/\/doi.org\/10.1111\/dmcn.16482","journal-title":"Dev Med Child Neurol"},{"issue":"4","key":"7377_CR72","doi-asserted-by":"publisher","first-page":"490","DOI":"10.1089\/crispr.2022.0020","volume":"5","author":"B Coorey","year":"2022","unstructured":"Coorey B, Haase F, Ellaway C, Clarke A, Lisowski L, Gold WA (2022) Gene editing and Rett syndrome: does it make the cut? CRISPR J 5(4):490\u2013499. https:\/\/doi.org\/10.1089\/crispr.2022.0020","journal-title":"CRISPR J"},{"issue":"7","key":"7377_CR73","doi-asserted-by":"publisher","DOI":"10.3390\/brainsci10070410","volume":"10","author":"M Fonzo","year":"2020","unstructured":"Fonzo M, Sirico F, Corrado B (2020) Evidence-based physical therapy for individuals with Rett syndrome: a systematic review. Brain Sci 10(7):410. https:\/\/doi.org\/10.3390\/brainsci10070410","journal-title":"Brain Sci"},{"key":"7377_CR74","doi-asserted-by":"publisher","DOI":"10.3389\/fnint.2020.00030","volume":"14","author":"JN Saby","year":"2020","unstructured":"Saby JN, Peters SU, Roberts TPL, Nelson CA, Marsh ED (2020) Evoked potentials and EEG analysis in Rett syndrome and related developmental encephalopathies: towards a biomarker for translational research. Front Integr Neurosci 14:30. https:\/\/doi.org\/10.3389\/fnint.2020.00030","journal-title":"Front Integr Neurosci"},{"issue":"24","key":"7377_CR75","doi-asserted-by":"publisher","first-page":"7420","DOI":"10.1080\/09638288.2021.1992026","volume":"44","author":"N Buckley","year":"2022","unstructured":"Buckley N, Stahlhut M, Elefant C, Leonard H, Lotan M, Downs J (2022) Parent and therapist perspectives on \u201cuptime\u201d activities and participation in Rett syndrome. Disabil Rehabil 44(24):7420\u20137427. https:\/\/doi.org\/10.1080\/09638288.2021.1992026","journal-title":"Disabil Rehabil"},{"key":"7377_CR76","doi-asserted-by":"publisher","DOI":"10.3389\/fnins.2021.698812","volume":"15","author":"FD Haase","year":"2021","unstructured":"Haase FD, Coorey B, Riley L, Cantrill LC, Tam PPL, Gold WA (2021) Pre-clinical investigation of Rett syndrome using human stem cell-based disease models. Front Neurosci 15:698812. https:\/\/doi.org\/10.3389\/fnins.2021.698812","journal-title":"Front Neurosci"},{"issue":"22","key":"7377_CR77","doi-asserted-by":"publisher","first-page":"1986","DOI":"10.1093\/hmg\/ddae135","volume":"33","author":"SS Bajikar","year":"2024","unstructured":"Bajikar SS, Sztainberg Y, Trostle AJ, Tirumala HP, Wan YW, Harrop CL, Bengtsson JD, Carvalho CMB, Pehlivan D, Suter B, Neul JL, Liu Z, Jafar-Nejad P, Rigo F, Zoghbi HY (2024) Modeling antisense oligonucleotide therapy in MECP2 duplication syndrome human iPSC-derived neurons reveals gene expression programs responsive to MeCP2 levels. Hum Mol Genet 33(22):1986\u20132001. https:\/\/doi.org\/10.1093\/hmg\/ddae135","journal-title":"Hum Mol Genet"},{"issue":"10","key":"7377_CR78","doi-asserted-by":"publisher","first-page":"1990","DOI":"10.1093\/hmg\/ddw074","volume":"25","author":"RG Gogliotti","year":"2016","unstructured":"Gogliotti RG, Senter RK, Rook JM, Ghoshal A, Zamorano R, Malosh C, Stauffer SR, Bridges TM, Bartolome JM, Daniels JS, Jones CK, Lindsley CW, Conn PJ, Niswender CM (2016) MGlu5 positive allosteric modulation normalizes synaptic plasticity defects and motor phenotypes in a mouse model of Rett syndrome. Hum Mol Genet 25(10):1990\u20132004. https:\/\/doi.org\/10.1093\/hmg\/ddw074","journal-title":"Hum Mol Genet"},{"issue":"1","key":"7377_CR79","doi-asserted-by":"publisher","first-page":"78","DOI":"10.1016\/j.gene.2012.11.024","volume":"515","author":"DK Das","year":"2013","unstructured":"Das DK, Raha S, Sanghavi D, Maitra A, Udani V (2013) Spectrum of MECP2 gene mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations. Gene 515(1):78\u201383. https:\/\/doi.org\/10.1016\/j.gene.2012.11.024","journal-title":"Gene"},{"issue":"10","key":"7377_CR80","doi-asserted-by":"publisher","first-page":"1043","DOI":"10.1080\/21678707.2016.1229181","volume":"4","author":"WE Kaufmann","year":"2016","unstructured":"Kaufmann WE, Stallworth JL, Everman DB, Skinner SA (2016) Neurobiologically-based treatments in Rett syndrome: opportunities and challenges. Expert Opin Orphan Drugs 4(10):1043\u20131055. https:\/\/doi.org\/10.1080\/21678707.2016.1229181","journal-title":"Expert Opin Orphan Drugs"},{"issue":"1","key":"7377_CR81","doi-asserted-by":"publisher","DOI":"10.1186\/s13287-022-03050-4","volume":"13","author":"RM Heris","year":"2022","unstructured":"Heris RM, Shirvaliloo M, Abbaspour-Aghdam S, Hazrati A, Shariati A, Youshanlouei HR, Niaragh FJ, Valizadeh H, Ahmadi M (2022) The potential use of mesenchymal stem cells and their exosomes in Parkinson\u2019s disease treatment. Stem Cell Res Ther 13(1):371. https:\/\/doi.org\/10.1186\/s13287-022-03050-4","journal-title":"Stem Cell Res Ther"},{"key":"7377_CR82","doi-asserted-by":"publisher","first-page":"1139359","DOI":"10.3389\/fbioe.2023.1139359PubMedPMID:36926687;PubMedCentralPMCID:PMC10011535","volume":"11","author":"J Isakovi\u0107","year":"2023","unstructured":"Isakovi\u0107 J, \u0160erer K, Bari\u0161i\u0107 B, Mitre\u010di\u0107 D (2023) Mesenchymal stem cell therapy for neurological disorders: the light or the dark side of the force? Front Bioeng Biotechnol 11:1139359. https:\/\/doi.org\/10.3389\/fbioe.2023.1139359PubMedPMID:36926687;PubMedCentralPMCID:PMC10011535","journal-title":"Front Bioeng Biotechnol"},{"issue":"2","key":"7377_CR83","doi-asserted-by":"publisher","DOI":"10.3390\/biomedicines14020475","volume":"14","author":"A Trabulo","year":"2026","unstructured":"Trabulo A, Sousa P, Alvites R, Maur\u00edcio AC (2026) Mesenchymal stem cell-based therapies applied in neurological diseases: a systematic review. Biomedicines 14(2):475. https:\/\/doi.org\/10.3390\/biomedicines14020475","journal-title":"Biomedicines"},{"key":"7377_CR84","doi-asserted-by":"publisher","DOI":"10.1016\/j.phrs.2025.107960","volume":"221","author":"M Shi","year":"2025","unstructured":"Shi M, Chu F, Zhu J (2025) Stem cells therapy in neurodegenerative and neuroimmune diseases: current status of treatments and future prospects. Pharmacol Res 221:107960. https:\/\/doi.org\/10.1016\/j.phrs.2025.107960","journal-title":"Pharmacol Res"},{"issue":"8","key":"7377_CR85","doi-asserted-by":"publisher","DOI":"10.3390\/ijms26083915","volume":"26","author":"YP Yang","year":"2025","unstructured":"Yang YP, Nicol CJB, Chiang MC (2025) A review of the neuroprotective properties of exosomes derived from stem cells and exosome-coated nanoparticles for treating neurodegenerative diseases and stroke. Int J Mol Sci 26(8):3915. https:\/\/doi.org\/10.3390\/ijms26083915","journal-title":"Int J Mol Sci"},{"issue":"6","key":"7377_CR86","doi-asserted-by":"publisher","first-page":"1004137","DOI":"10.37349\/ent.2026.1004137","volume":"27","author":"AW Islam","year":"2026","unstructured":"Islam AW, Rao ZK, Wilkhoo HS, Singh B, Hussain S, Kadam SR (2026) Stem cell-derived exosomes as neurotherapeutic agents: mechanisms of immunomodulation and neural regeneration in neurodegenerative disorders. Explor Neuroprotective Ther 27(6):1004137. https:\/\/doi.org\/10.37349\/ent.2026.1004137","journal-title":"Explor Neuroprotective Ther"},{"key":"7377_CR87","doi-asserted-by":"publisher","DOI":"10.3389\/fncel.2024.1427525","volume":"18","author":"A Salehpour","year":"2024","unstructured":"Salehpour A, Karimi Z, Ghasemi Zadeh M, Afshar M, Kameli A, Mooseli F, Zare M, Afshar A (2024) Therapeutic potential of mesenchymal stem cell-derived exosomes and miRNAs in neuronal regeneration and rejuvenation in neurological disorders: a mini review. Front Cell Neurosci 18:1427525. https:\/\/doi.org\/10.3389\/fncel.2024.1427525","journal-title":"Front Cell Neurosci"},{"issue":"4","key":"7377_CR88","doi-asserted-by":"publisher","first-page":"356","DOI":"10.1097\/JCMA.0000000000000899","volume":"86","author":"AF Aldoghachi","year":"2023","unstructured":"Aldoghachi AF, Loh JK, Wang ML, Yang YP, Chien CS, Teh HX, Omar AH, Cheong SK, Yeap SK, Ho WY, Ong AHK (2023) Current developments and therapeutic potentials of exosomes from induced pluripotent stem cells-derived mesenchymal stem cells. J Chin Med Assoc 86(4):356\u2013365. https:\/\/doi.org\/10.1097\/JCMA.0000000000000899","journal-title":"J Chin Med Assoc"},{"key":"7377_CR89","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2026.1766679","volume":"17","author":"D Samanta","year":"2026","unstructured":"Samanta D (2026) Disease-modifying therapies for Rett syndrome: a review for neurologists. Front Neurol 17:1766679. https:\/\/doi.org\/10.3389\/fneur.2026.1766679","journal-title":"Front Neurol"},{"issue":"1","key":"7377_CR90","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-022-02342-5","volume":"17","author":"KM Kidwell","year":"2022","unstructured":"Kidwell KM, Roychoudhury S, Wendelberger B, Scott J, Moroz T, Yin S, Majumder M, Zhong J, Huml RA, Miller V (2022) Application of Bayesian methods to accelerate rare disease drug development: scopes and hurdles. Orphanet J Rare Dis 17(1):186. https:\/\/doi.org\/10.1186\/s13023-022-02342-5","journal-title":"Orphanet J Rare Dis"},{"key":"7377_CR91","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2022.975803","volume":"13","author":"HCJ Ertl","year":"2022","unstructured":"Ertl HCJ (2022) Immunogenicity and toxicity of AAV gene therapy. Front Immunol 13:975803. https:\/\/doi.org\/10.3389\/fimmu.2022.975803","journal-title":"Front Immunol"},{"issue":"1","key":"7377_CR92","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-025-03893-z","volume":"20","author":"Q Zhao","year":"2025","unstructured":"Zhao Q, Peng H, Ma Y, Yuan H, Jiang H (2025) In vivo applications and toxicities of AAV-based gene therapies in rare diseases. Orphanet J Rare Dis 20(1):368. https:\/\/doi.org\/10.1186\/s13023-025-03893-z","journal-title":"Orphanet J Rare Dis"},{"issue":"11","key":"7377_CR93","doi-asserted-by":"publisher","first-page":"4818","DOI":"10.3390\/ijms27114818","volume":"27","author":"TS Tsaregorodtseva","year":"2026","unstructured":"Tsaregorodtseva TS, Radyukhina MA, Ayupova AI, Solovyeva VV, Sufianov AA, Sufianova GZ, Rizvanov AA (2026) Safety of adeno-associated viral vectors in gene therapy: mechanisms of toxicity, clinical risks, and strategies for their minimization. Int J Mol Sci 27(11):4818. https:\/\/doi.org\/10.3390\/ijms27114818","journal-title":"Int J Mol Sci"},{"issue":"7","key":"7377_CR94","doi-asserted-by":"publisher","first-page":"3783","DOI":"10.1016\/j.ymthe.2026.04.027","volume":"34","author":"C Song","year":"2026","unstructured":"Song C, Liu J, Wang Q, Zhu P, Xu J, Zhou Y, Lin Z, Xin X, Hu W, Li Z, Chen S, Zhang Y, Li S, Li J, Wang Y, Luo J, Jia X, Yuan N, Wang L, Ye G, Wang Y, Wu Z (2026) Challenging the more-is-better dogma: a precision-optimized AAV gene therapy for SMA. Mol Ther 34(7):3783\u20133804. https:\/\/doi.org\/10.1016\/j.ymthe.2026.04.027","journal-title":"Mol Ther"},{"issue":"26","key":"7377_CR95","doi-asserted-by":"publisher","first-page":"471","DOI":"10.1016\/j.omtm.2022.07.018PubMedPMID:36092368;PubMedCentralPMCID:PMC9418752","volume":"8","author":"TY Yang","year":"2022","unstructured":"Yang TY, Braun M, Lembke W, McBlane F, Kamerud J, DeWall S, Tarcsa E, Fang X, Hofer L, Kavita U, Upreti VV, Gupta S, Loo L, Johnson AJ, Chandode RK, Stubenrauch KG, Vinzing M, Xia CQ, Jawa V (2022) Immunogenicity assessment of AAV-based gene therapies: an IQ consortium industry white paper. Mol Ther Methods Clin Dev 8(26):471\u2013494. https:\/\/doi.org\/10.1016\/j.omtm.2022.07.018PubMedPMID:36092368;PubMedCentralPMCID:PMC9418752","journal-title":"Mol Ther Methods Clin Dev"},{"issue":"1","key":"7377_CR96","doi-asserted-by":"publisher","DOI":"10.1186\/s11689-023-09502-z","volume":"15","author":"JL Neul","year":"2023","unstructured":"Neul JL, Benke TA, Marsh ED, Suter B, Silveira L, Fu C, Peters SU, Percy AK, Rett syndrome Natural History Study Group (2023) Top caregiver concerns in Rett syndrome and related disorders: data from the US natural history study. J Neurodev Disord 15(1):33. https:\/\/doi.org\/10.1186\/s11689-023-09502-z","journal-title":"J Neurodev Disord"},{"issue":"1","key":"7377_CR97","doi-asserted-by":"publisher","first-page":"296","DOI":"10.1186\/s13023-024-03313-8PubMedPMID:39138481;PubMedCentralPMCID:PMC11323357","volume":"19","author":"WE Kaufmann","year":"2024","unstructured":"Kaufmann WE, Percy AK, Neul JL, Downs J, Leonard H, Nues P, Sharma GD, Bartolotta TE, Townend GS, Curfs LMG, Mariotti O, Buda C, O\u2019Leary HM, Oberman LM, Vogel-Farley V, Barnes KV, Missling CU (2024) Burden of illness in Rett syndrome: initial evaluation of a disorder-specific caregiver survey. Orphanet J Rare Dis 19(1):296. https:\/\/doi.org\/10.1186\/s13023-024-03313-8PubMedPMID:39138481;PubMedCentralPMCID:PMC11323357","journal-title":"Orphanet J Rare Dis"},{"issue":"3","key":"7377_CR98","doi-asserted-by":"publisher","first-page":"978","DOI":"10.5336\/nurses.2024-107612","volume":"17","author":"G Erdo\u011fan Y\u00fcce","year":"2025","unstructured":"Erdo\u011fan Y\u00fcce G, Caner N (2025) Assessing the reliability of the Zarit caregiver burden interview: a comprehensive reliability generalization meta-analysis. Turk Klin J Nurs Sci 17(3):978\u2013991. https:\/\/doi.org\/10.5336\/nurses.2024-107612","journal-title":"Turk Klin J Nurs Sci"},{"issue":"1","key":"7377_CR99","doi-asserted-by":"publisher","first-page":"2229400","DOI":"10.1080\/24740527.2023.2229400PubMedPMID:37533505;PubMedCentralPMCID:PMC10392763","volume":"7","author":"BJ Byiers","year":"2023","unstructured":"Byiers BJ, Merbler AM, Raiter A, Burkitt CC, Symons FJ (2023) Caregiver perspectives on pain sensitivity and pain experience in Rett syndrome. Can J Pain Rev Can Douleur 7(1):2229400. https:\/\/doi.org\/10.1080\/24740527.2023.2229400PubMedPMID:37533505;PubMedCentralPMCID:PMC10392763","journal-title":"Can J Pain Rev Can Douleur"},{"issue":"6","key":"7377_CR100","doi-asserted-by":"publisher","first-page":"E21","DOI":"10.1097\/JCN.0000000000000348PubMedPMID:27617563;PubMedCentralPMCID:PMC5069100","volume":"31","author":"SY Al-Rawashdeh","year":"2016","unstructured":"Al-Rawashdeh SY, Lennie TA, Chung ML (2016) Psychometrics of the Zarit burden interview in caregivers of patients with heart failure. J Cardiovasc Nurs 31(6):E21\u2013E28. https:\/\/doi.org\/10.1097\/JCN.0000000000000348PubMedPMID:27617563;PubMedCentralPMCID:PMC5069100","journal-title":"J Cardiovasc Nurs"},{"key":"7377_CR101","doi-asserted-by":"publisher","DOI":"10.1007\/s40489-026-00571-z","author":"KS Rahaman","year":"2026","unstructured":"Rahaman KS, Mills C, Gebremariam RB, John JR, Subramanium M, Ekanayake K, Eapen V, Arora A (2026) Prevalence of neurodevelopmental disorders among preschool children of migrants and refugees in high-income western countries: a systematic review and meta-analysis. Rev J Autism Dev Disord. https:\/\/doi.org\/10.1007\/s40489-026-00571-z","journal-title":"Rev J Autism Dev Disord"},{"issue":"6","key":"7377_CR102","doi-asserted-by":"publisher","first-page":"1468","DOI":"10.1038\/s41591-023-02398-1PubMedPMID:37291210;PubMedCentralPMCID:PMC10287558","volume":"29","author":"JL Neul","year":"2023","unstructured":"Neul JL, Percy AK, Benke TA, Berry-Kravis EM, Glaze DG, Marsh ED, Lin T, Stankovic S, Bishop KM, Youakim JM (2023) Trofinetide for the treatment of Rett syndrome: a randomized phase 3 study. Nat Med 29(6):1468\u20131475. https:\/\/doi.org\/10.1038\/s41591-023-02398-1PubMedPMID:37291210;PubMedCentralPMCID:PMC10287558","journal-title":"Nat Med"},{"issue":"1","key":"7377_CR103","doi-asserted-by":"publisher","first-page":"38","DOI":"10.1002\/cns3.70062","volume":"4","author":"EO Prange","year":"2026","unstructured":"Prange EO, Beisang A, Pehlivan D, Suter B, Schleifer P (2026) Expert consensus on real-world use of trofinetide for Rett syndrome using a modified Delphi method. Ann Child Neurol Soc 4(1):38\u201351. https:\/\/doi.org\/10.1002\/cns3.70062","journal-title":"Ann Child Neurol Soc"},{"issue":"17","key":"7377_CR104","doi-asserted-by":"publisher","first-page":"1643906","DOI":"10.3389\/fphar.2026.1643906","volume":"14","author":"X Yu","year":"2026","unstructured":"Yu X, Zhong J, Lin Z, Fu H, Zhang Y (2026) Post-marketing safety concerns with trofinetide: a disproportionality analysis of the first therapeutic agent for Rett syndrome based on the FDA adverse event reporting system (FAERS). Front Pharmacol 14(17):1643906. https:\/\/doi.org\/10.3389\/fphar.2026.1643906","journal-title":"Front Pharmacol"},{"issue":"1","key":"7377_CR105","doi-asserted-by":"publisher","first-page":"1715","DOI":"10.1080\/13696998.2026.2682668","volume":"29","author":"N Rashid","year":"2026","unstructured":"Rashid N, Yakkala VK, Syed SS, Rajagopalan K (2026) Rett syndrome and real-world treatment patterns of trofinetide in the United States. J Med Econ 29(1):1715\u20131727. https:\/\/doi.org\/10.1080\/13696998.2026.2682668","journal-title":"J Med Econ"},{"issue":"1","key":"7377_CR106","doi-asserted-by":"publisher","DOI":"10.3390\/genes15010031","volume":"15","author":"C Sadhu","year":"2023","unstructured":"Sadhu C, Lyons C, Oh J et al (2023) The efficacy of a human-ready miniMECP2 gene therapy in a pre-clinical model of Rett syndrome. Genes 15(1):31. https:\/\/doi.org\/10.3390\/genes15010031","journal-title":"Genes"},{"key":"7377_CR107","doi-asserted-by":"publisher","DOI":"10.1016\/j.medj.2025.100608","author":"AK Percy","year":"2025","unstructured":"Percy AK, Ryther R, Marsh ED, Neul JL, Benke TA, Berry-Kravis EM, Feyma T, Lieberman DN, Ananth AL, Fu C, Buhrfiend C, Barrett A, Doshi D, Darwish M, An D, Bishop KM, Youakim JM (2025) Results from the phase 2\/3 DAFFODIL study of trofinetide in girls aged 2\u20134 years with Rett syndrome. Med (Baltimore). https:\/\/doi.org\/10.1016\/j.medj.2025.100608","journal-title":"Med (Baltimore)"},{"key":"7377_CR108","doi-asserted-by":"publisher","unstructured":"Banerjee S, Chandu PM, Sarkar M, Soni TK, Saha M, L FM, Chatterjee B, Das U (2025) Engineering brain organoids and organ-on-chip systems for modeling neurodevelopmental and neurodegenerative pathophysiology. Neurol Res 1\u201318. https:\/\/doi.org\/10.1080\/01616412.2025.2600434","DOI":"10.1080\/01616412.2025.2600434"},{"key":"7377_CR109","doi-asserted-by":"publisher","unstructured":"Gopukumar ST, Dwivedi D, Rahamathulla M, Ahmed MM, Soni TK, Natarajan PG, Ramkanth S, Mitra A, Das U (2026) Multiscale predictive cellular modeling: integrating hypothesis grammars, digital twins, and multi-omics for In silico oncology and precision theranostics. Funct Integr Genom 26(1). https:\/\/doi.org\/10.1007\/s10142-026-01890-4","DOI":"10.1007\/s10142-026-01890-4"},{"key":"7377_CR110","doi-asserted-by":"publisher","unstructured":"Gopukumar S, Dwivedi D, Gowri K, Karpakavalli M, Nair C, Singh D, Das U (2025) Repurposing oncology drugs for Alzheimer\u2019s: multi-omic convergence targeting cell-cycle, proteostasis, immunometabolism, and senescence. Medicine in Drug Discovery 28, 100237. https:\/\/doi.org\/10.1016\/j.medidd.2025.100237","DOI":"10.1016\/j.medidd.2025.100237"},{"key":"7377_CR111","doi-asserted-by":"publisher","unstructured":"Das U (2025) Generative AI for drug discovery and protein design: the next frontier in AI-driven molecular science. Medicine in Drug Discovery 27, 100213. https:\/\/doi.org\/10.1016\/j.medidd.2025.100213","DOI":"10.1016\/j.medidd.2025.100213"},{"key":"7377_CR112","doi-asserted-by":"publisher","unstructured":"Das U (2025b) Transforming precision medicine through generative ai: advanced architectures and tailored therapeutic design for patient\u2010specific drug discovery. ChemistrySelect 10(36). https:\/\/doi.org\/10.1002\/slct.202502448","DOI":"10.1002\/slct.202502448"},{"key":"7377_CR113","doi-asserted-by":"publisher","unstructured":"Kumar U, Dwivedi D, Das U (2025) Advancements in CRISPR\u2010Mediated Multiplex Genome editing: transforming plant breeding for crop improvement and polygenic trait engineering. Biotechnol J 20(11): e70148. https:\/\/doi.org\/10.1002\/biot.70148","DOI":"10.1002\/biot.70148"},{"key":"7377_CR114","doi-asserted-by":"publisher","unstructured":"Kumar A, Dwivedi D, Ghosh N, Gopalakrishnan K, Rahamathulla M, Ahmed MM, Nair C, Singh D, Singh, R, Das U (2026) iPSC-derived polyvalent vaccines as ontogenetically informed immunogens toward overcoming immune refractoriness in microsatellite-stable colorectal cancer: An emerging frontier in cancer immunotherapy. Mol Immunol 198:98\u2013120. https:\/\/doi.org\/10.1016\/j.molimm.2026.08.008","DOI":"10.1016\/j.molimm.2026.08.008"},{"key":"7377_CR115","doi-asserted-by":"publisher","unstructured":"Das U, Chanda T, Kumar J, Peter A (2025) Discovery of natural MCL1 inhibitors using pharmacophore modelling, QSAR, docking, ADMET, molecular dynamics, and DFT analysis. Comput Biol Chem 117:108427. https:\/\/doi.org\/10.1016\/j.compbiolchem.2025.108427","DOI":"10.1016\/j.compbiolchem.2025.108427"},{"key":"7377_CR116","doi-asserted-by":"publisher","unstructured":"Das U, Chandramouli L, Uttarkar A, Kumar J, Niranjan V (2024) Discovery of natural compounds as novel FMS-like tyrosine kinase-3 (FLT3) therapeutic inhibitors for the treatment of acute myeloid leukemia: An in-silico approach. Aspects of Molecular Medicine 5:100058. https:\/\/doi.org\/10.1016\/j.amolm.2024.100058","DOI":"10.1016\/j.amolm.2024.100058"},{"key":"7377_CR117","doi-asserted-by":"publisher","unstructured":"Das U, Mukherjee A, Mukunthan KS, Kumar J (2025) Identification of potential natural BCL-2 inhibitors for leukemia through an integrated virtual screening approach. BMC Pharmacol Toxicol 26(1):176. https:\/\/doi.org\/10.1186\/s40360-025-01005-y","DOI":"10.1186\/s40360-025-01005-y"},{"key":"7377_CR118","doi-asserted-by":"publisher","unstructured":"Das U, Regati D, Sowdhamini R, Kumar J (2026) Rational design and comparative docking and simulation of modified FLT3 inhibitors: a study on enhanced binding stability and inhibition potency. J Mol Model 32(6). https:\/\/doi.org\/10.1007\/s00894-026-06761-0","DOI":"10.1007\/s00894-026-06761-0"},{"key":"7377_CR119","doi-asserted-by":"publisher","unstructured":"Das U, Uttarkar A, Kumar J, Niranjan V (2025) In silico exploration natural compounds for the discovery of novel DNMT3A inhibitors as potential therapeutic agents for acute myeloid leukemia. In Silico Research in Biomedicine 1:100006. https:\/\/doi.org\/10.1016\/j.insi.2025.100006","DOI":"10.1016\/j.insi.2025.100006"},{"key":"7377_CR120","doi-asserted-by":"publisher","unstructured":"Das U, Regati DR, Kumar J, Sowdhamini R (2025) Exploration of natural products for targeting IDH1\/2 mutations in acute myeloid leukemia through Ligand-Based Pharmacophore screening, docking, ADME-T, and molecular dynamic simulation approaches. Bioinform Biol Insights 19:11779322251399077. https:\/\/doi.org\/10.1177\/11779322251399077","DOI":"10.1177\/11779322251399077"},{"key":"7377_CR121","doi-asserted-by":"publisher","unstructured":"Debnath S, Das U, Uttarkar A, Niranjan V, De A (2025) In Silico Discovery of Tanshinone I, a Diterpenoid from Salvia miltiorrhiza (Danshen), as a Dual Antiviral Natural Inhibitor Targeting Conserved Allosteric Sites of HMPV and HRSV RNA-Dependent RNA Polymerases. J Pharm Innov 20(6). https:\/\/doi.org\/10.1007\/s12247-025-10194-2","DOI":"10.1007\/s12247-025-10194-2"},{"key":"7377_CR122","doi-asserted-by":"publisher","unstructured":"Kumasagi MI, Nagesha N, Dwivedi D, Santhosh G, Hiremath S, Das U, Shankarappa K (2025) Structure-based discovery of Saponarin as a broad-spectrum allosteric inhibitor of banana viral coat proteins. S Afr J Bot 189:191\u2013202. https:\/\/doi.org\/10.1016\/j.sajb.2025.11.034","DOI":"10.1016\/j.sajb.2025.11.034"},{"key":"7377_CR123","doi-asserted-by":"publisher","unstructured":"Das U, Banerjee S, Sarkar M, L FM, Soni TK, Saha M, Pradhan G, Chatterjee B (2024) Circular RNA vaccines: Pioneering the next-gen cancer immunotherapy. Cancer Pathogenesis and Therapy 3(4):309\u2013321. https:\/\/doi.org\/10.1016\/j.cpt.2024.11.003","DOI":"10.1016\/j.cpt.2024.11.003"},{"key":"7377_CR124","doi-asserted-by":"publisher","unstructured":"Gopukumar S, Saha M, Das P, Sheela P, Komala M, Harish J, Sundaram KM, Shamshad S, Das U (2026) Fungal ribosomally synthesized and post-translationally modified peptides (F-RiPPs): Biosynthesis, genome mining, structural diversity, and translational potential as targeted anticancer ADC payloads. Fitoterapia 192:107283. https:\/\/doi.org\/10.1016\/j.fitote.2026.107283","DOI":"10.1016\/j.fitote.2026.107283"},{"key":"7377_CR125","doi-asserted-by":"publisher","unstructured":"Devendran A, Anandan Y, Palaniyandi S, Ganesh Kumar A (2025) Dental pulp stem cell-based therapy for human diseases. Texila Int J Public Health 13(1). https:\/\/doi.org\/10.21522\/TIJPH.2013.13.01.Art053","DOI":"10.21522\/TIJPH.2013.13.01.Art053"},{"key":"7377_CR126","doi-asserted-by":"publisher","unstructured":"Nagaraj K, Anbazhagan GK, Govindasamy RS, Muthu V, Rajkumar S, Senthilnathan S et al (2025) Biomimetic surfactants for tunable interfacial properties in drug delivery, biomedical coatings and tissue engineering. Int J Pharm 677:125658. https:\/\/doi.org\/10.1016\/j.ijpharm.2025.125658","DOI":"10.1016\/j.ijpharm.2025.125658"},{"key":"7377_CR127","doi-asserted-by":"publisher","unstructured":"Kulkarni SV, Abdurasul B, Khalaf BS, Anbazhagan GK, Kadhim H, Mohamed Faizal MK (2025) Personalized patient risk prediction using multi-modal AI on EHR and medical imaging data. In: 2025 International Conference on Next Generation Information System Engineering (NGISE) p. 1\u20136. https:\/\/doi.org\/10.1109\/NGISE64126.2025.11085208","DOI":"10.1109\/NGISE64126.2025.11085208"}],"container-title":["European Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00431-026-07377-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00431-026-07377-5","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00431-026-07377-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T19:37:46Z","timestamp":1791920266000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00431-026-07377-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,9,10]]},"references-count":127,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2026,10]]}},"alternative-id":["7377"],"URL":"https:\/\/doi.org\/10.1007\/s00431-026-07377-5","relation":{},"ISSN":["1432-1076"],"issn-type":[{"value":"1432-1076","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,9,10]]},"assertion":[{"value":"28 March 2026","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"24 August 2026","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"26 August 2026","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 September 2026","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"None.","order":1,"name":"Ethics","label":"Ethical approval","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Not applicable (no human participants were involved in this review).","order":2,"name":"Ethics","label":"Consent to participate","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare no competing interests.","order":3,"name":"Ethics","label":"Competing interests","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"In accordance with the journal\u2019s policy and with COPE and ICMJE guidance, the authors disclose the following use of generative artificial intelligence and AI-assisted technologies in the preparation of this manuscript. Large language model tools (OpenAI ChatGPT and Anthropic Claude) were used solely for language editing, specifically to improve grammar, clarity, concision and readability of author-written text, and, during revision, to assist with consistency checking of terminology, cross-references and the reference list. No AI tool was used to conceive the review, to design or execute the literature search, to select or appraise the included studies, to interpret data, to generate any figure or table content, or to draft the scientific conclusions. No text was accepted from an AI tool without author verification, and no AI tool was used to generate or fabricate references; every citation in this manuscript was independently checked by the authors against the primary source. The authors reviewed and edited all AI-assisted output and take full responsibility for the content, accuracy and integrity of the published work.","order":4,"name":"Ethics","label":"Declaration of generative AI and AI-assisted technologies in the writing process","group":{"name":"EthicsHeading","label":"Declarations"}}],"article-number":"736"}}