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Spectrum of ERCC6-Related Cockayne Syndrome (Type B): From Mild to Severe Forms.
Sartorelli J, Travaglini L, Macchiaiolo M, Garone G, Gonfiantini MV, Vecchio D, Sinibaldi L, Frascarelli F, Ceccatelli V, Petrillo S, Piemonte F, Piccolo G, Novelli A, Longo D, Pro S, D'Amico A, Bertini ES, Nicita F. Sartorelli J, et al. Among authors: pro s. Genes (Basel). 2024 Apr 18;15(4):508. doi: 10.3390/genes15040508. Genes (Basel). 2024. PMID: 38674442 Free PMC article.
Vocal Cord Paralysis and Feeding Difficulties as Early Diagnostic Clues of Congenital Myasthenic Syndrome with Neonatal Onset: A Case Report and Review of Literature.
De Rose DU, Ronci S, Caoci S, Maddaloni C, Diodato D, Catteruccia M, Fattori F, Bosco L, Pro S, Savarese I, Bersani I, Randi F, Trozzi M, Meucci D, Calzolari F, Salvatori G, Solinas A, Dotta A, Campi F. De Rose DU, et al. Among authors: pro s. J Pers Med. 2023 May 6;13(5):798. doi: 10.3390/jpm13050798. J Pers Med. 2023. PMID: 37240968 Free PMC article. Review.
Neurodevelopmental and genetic findings in neonates with intracranial arteriovenous shunts: A case series.
Campi F, De Rose DU, Pugnaloni F, Ronci S, Calì M, Pro S, Longo D, Lucignani G, Raho L, Pisaneschi E, Digilio MC, Savarese I, Bersani I, Amante PG, Conti M, De Liso P, Capolupo I, Braguglia A, Gandolfo C, Dotta A. Campi F, et al. Among authors: pro s. Front Pediatr. 2023 Mar 29;11:1111527. doi: 10.3389/fped.2023.1111527. eCollection 2023. Front Pediatr. 2023. PMID: 37063679 Free PMC article.
"Atypical" Krabbe disease in two siblings harboring biallelic GALC mutations including a deep intronic variant.
Nicita F, Stregapede F, Deodato F, Pizzi S, Martinelli S, Pagliara D, Aiello C, Cumbo F, Piemonte F, D'Amico J, Pro S, Longo D, Genovese S, Tartaglia M, Escolar ML, Bertini E, Travaglini L. Nicita F, et al. Among authors: pro s. Eur J Hum Genet. 2022 Aug;30(8):984-988. doi: 10.1038/s41431-022-01111-z. Epub 2022 May 17. Eur J Hum Genet. 2022. PMID: 35581417 Free PMC article.
Short and Long-Term Toxicity in Pediatric Cancer Treatment: Central Nervous System Damage.
Alessi I, Caroleo AM, de Palma L, Mastronuzzi A, Pro S, Colafati GS, Boni A, Della Vecchia N, Velardi M, Evangelisti M, Carboni A, Carai A, Vinti L, Valeriani M, Reale A, Parisi P, Raucci U. Alessi I, et al. Among authors: pro s. Cancers (Basel). 2022 Mar 17;14(6):1540. doi: 10.3390/cancers14061540. Cancers (Basel). 2022. PMID: 35326692 Free PMC article. Review.
58 results