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Page 1
Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis.
Balogh E, Chandler JC, Varga M, Tahoun M, Menyhárd DK, Schay G, Goncalves T, Hamar R, Légrádi R, Szekeres Á, Gribouval O, Kleta R, Stanescu H, Bockenhauer D, Kerti A, Williams H, Kinsler V, Di WL, Curtis D, Kolatsi-Joannou M, Hammid H, Szőcs A, Perczel K, Maka E, Toldi G, Sava F, Arrondel C, Kardos M, Fintha A, Hossain A, D'Arco F, Kaliakatsos M, Koeglmeier J, Mifsud W, Moosajee M, Faro A, Jávorszky E, Rudas G, Saied MH, Marzouk S, Kelen K, Götze J, Reusz G, Tulassay T, Dragon F, Mollet G, Motameny S, Thiele H, Dorval G, Nürnberg P, Perczel A, Szabó AJ, Long DA, Tomita K, Antignac C, Waters AM, Tory K. Balogh E, et al. Proc Natl Acad Sci U S A. 2020 Jun 30;117(26):15137-15147. doi: 10.1073/pnas.2002328117. Epub 2020 Jun 17. Proc Natl Acad Sci U S A. 2020. PMID: 32554502 Free PMC article.
Imaging readiness in the gene therapy era-exploring standardized protocols for response assessment.
Biswas A, Soo AKS, Kurian MA, Löbel U, D'Arco F, Batzios S, Sudhakar S, Mankad K; IMaging Assessment in Gene and Enzyme Replacement therapies (IMAGER) study group. Biswas A, et al. Among authors: d arco f. J Inherit Metab Dis. 2025 Jan;48(1):e12828. doi: 10.1002/jimd.12828. Epub 2024 Dec 9. J Inherit Metab Dis. 2025. PMID: 39648747 No abstract available.
Automated and Interpretable Detection of Hippocampal Sclerosis in Temporal Lobe Epilepsy: AID-HS.
Ripart M, DeKraker J, Eriksson MH, Piper RJ, Gopinath S, Parasuram H, Mo J, Likeman M, Ciobotaru G, Sequeiros-Peggs P, Hamandi K, Xie H, Cohen NT, Su TY, Kochi R, Wang I, Rojas-Costa GM, Gálvez M, Parodi C, Riva A, D'Arco F, Mankad K, Clark CA, Carbó AV, Toledano R, Taylor P, Napolitano A, Rossi-Espagnet MC, Willard A, Sinclair B, Pepper J, Seri S, Devinsky O, Pardoe HR, Winston GP, Duncan JS, Yasuda CL, Scárdua-Silva L, Walger L, Rüber T, Khan AR, Baldeweg T, Adler S, Wagstyl K; MELD HS study group. Ripart M, et al. Among authors: d arco f. Ann Neurol. 2024 Nov 14;97(1):62-75. doi: 10.1002/ana.27089. Online ahead of print. Ann Neurol. 2024. PMID: 39543853 Free PMC article.
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations.
Peron A, D'Arco F, Aldinger KA, Smith-Hicks C, Zweier C, Gradek GA, Bradbury K, Accogli A, Andersen EF, Au PYB, Battini R, Beleford D, Bird LM, Bouman A, Bruel AL, Busk ØL, Campeau PM, Capra V, Carlston C, Carmichael J, Chassevent A, Clayton-Smith J, Bamshad MJ, Earl DL, Faivre L, Philippe C, Ferreira P, Graul-Neumann L, Green MJ, Haffner D, Haldipur P, Hanna S, Houge G, Jones WD, Kraus C, Kristiansen BE, Lespinasse J, Low KJ, Lynch SA, Maia S, Mao R, Kalinauskiene R, Melver C, McDonald K, Montgomery T, Morleo M, Motter C, Openshaw AS, Palumbos JC, Parikh AS, Perilla-Young Y, Powell CM, Person R, Desai M, Piard J, Pfundt R, Scala M, Serey-Gaut M, Shears D, Slavotinek A, Suri M, Turner C, Tvrdik T, Weiss K, Wentzensen IM, Zollino M, Hsieh TC; C4RCD Research Group; Telethon Undiagnosed Disease Program (TUDP); University of Washington Center for Mendelian Genomics (UW-CMG); de Vries BBA, Guillemot F, Dobyns WB, Viskochil D, Dias C. Peron A, et al. Among authors: d arco f. Eur J Hum Genet. 2024 Oct 24. doi: 10.1038/s41431-024-01701-z. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39448799
Integrating standard epilepsy protocol, ASL-perfusion, MP2RAGE/EDGE and the MELD-FCD classifier in the detection of subtle epileptogenic lesions: a 3 Tesla MRI pilot study.
Pastore LV, Sudhakar SV, Mankad K, De Vita E, Biswas A, Tisdall MM, Chari A, Figini M, Tahir MZ, Adler S, Moeller F, Cross JH, Pujar S, Wagstyl K, Ripart M, Löbel U, Cirillo L, D'Arco F. Pastore LV, et al. Among authors: d arco f. Neuroradiology. 2024 Oct 23. doi: 10.1007/s00234-024-03488-8. Online ahead of print. Neuroradiology. 2024. PMID: 39441414
Neuroradiologic, Clinical, and Genetic Characterization of Cerebellar Heterotopia: A Pediatric Multicentric Study.
Pasca L, Arrigoni F, Romaniello R, Severino MS, Politano D, D'Abrusco F, Garau J, Giorgis V, Carpani A, Signorini S, Orcesi S, D'Arco F, Alfei E, Cattaneo E, Rognone E, Uccella S, Divizia MT, Infantino P, Valente EM, Borgatti R, Pichiecchio A. Pasca L, et al. Among authors: d arco f. AJNR Am J Neuroradiol. 2025 Jan 8;46(1):170-177. doi: 10.3174/ajnr.A8450. AJNR Am J Neuroradiol. 2025. PMID: 39406511
156 results