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Page 1
Single nucleotide variants in UNC13C associated with neurodevelopmental disorders affect ethanol sensitivity in Drosophila.
Müller F, Neuser S, Shrestha G, Neupane NP, Götze KJ, Brunetti-Pierri N, Terrone G, Reymond A, van Gassen KL, Brilstra E, Steindl K, Begemann A, Rauch A, Rips J, Fahham D, Barakat TS, Patat O, Mortreux J, Chau MHK, Rosenfeld JA, Mizerik E, Srivastava S, Luo X, Dahse AK, Scholz N, Das J, Roman G, Langenhan T, Abou Jamra R, Mrestani A, Ljaschenko D. Müller F, et al. Among authors: terrone g. Biochem Biophys Rep. 2025 Nov 28;45:102375. doi: 10.1016/j.bbrep.2025.102375. eCollection 2026 Mar. Biochem Biophys Rep. 2025. PMID: 41399760 Free PMC article.
Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From RNU4-2 Variants to Clinical Phenotypes.
Di Letto P, De Leonibus C, Palmieri FP, Zanobio M, Scarpato M, Cetrangolo V, Rahman SI, Selicorni A, Mariani M, D'Arrigo S, Ciaccio C, Milani D, Ajmone PF, Morleo M, Spampanato C, Piluso G, Zollino M, L'Erario FF, Greco D, Capra V, Scala M, Romano F, Terrone G, De Falco A, Paolella C, Mastrangelo M, Ricciardi G, Brunetti-Pierri N; Telethon Undiagnosed Diseases Program Study Group; Nigro V, Torella A. Di Letto P, et al. Among authors: terrone g. Neurol Genet. 2025 Oct 20;11(6):e200312. doi: 10.1212/NXG.0000000000200312. eCollection 2025 Dec. Neurol Genet. 2025. PMID: 41127311 Free PMC article.
Deletion Testing of the DEGS1 Gene Should Be Part of the Diagnostic Pipeline for Hypomyelinating Leukodystrophy (HLD18).
Zanobio M, Nardecchia F, Cappuccio G, Onore ME, Di Letto P, Rahman SI, Terrone G, Ugga L, De Giorgi A, Cas MD, Trinchera M, Leuzzi V, Piluso G, Nigro V, Brunetti-Pierri N; TUDP consortium; Torella A. Zanobio M, et al. Among authors: terrone g. Hum Mutat. 2025 May 7;2025:3531508. doi: 10.1155/humu/3531508. eCollection 2025. Hum Mutat. 2025. PMID: 40371095 Free PMC article.
Neurological and psychiatric phenotype of a multicenter cohort of patients with SETD5-related neurodevelopmental disorder.
De Falco A, De Dominicis A, Trivisano M, Specchio N, Digilio MC, Piscopo C, Capra V, Scala M, Iacomino M, Accogli A, Romano F, Salpietro V, Mancardi M, Striano P, Operto FF, Gburek-Augustat J, Perrin L, Capri Y, Lupo V, Elia M, Manti F, Pisani F, Brunetti-Pierri N, Terrone G. De Falco A, et al. Among authors: terrone g. Eur J Paediatr Neurol. 2025 Jan;54:8-17. doi: 10.1016/j.ejpn.2024.11.008. Epub 2024 Nov 23. Eur J Paediatr Neurol. 2025. PMID: 39603091
Interplay of Dyadic Consensus, Reflective Functioning, and Perinatal Affective Difficulties in Modulating Fear of COVID-19 among First-Time Mothers: A Mediation Analysis.
Fontana A, Mangialavori S, Terrone G, Trani L, Topino E, Trincia V, Lisi G, Ducci G, Cacioppo M. Fontana A, et al. Among authors: terrone g. Int J Environ Res Public Health. 2024 Jun 28;21(7):848. doi: 10.3390/ijerph21070848. Int J Environ Res Public Health. 2024. PMID: 39063425 Free PMC article.
88 results