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33 results

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Page 1
A new neurodevelopmental disorder linked to heterozygous variants in UNC79.
Bayat A, Liu Z, Luo S, Fenger CD, Højte AF, Isidor B, Cogne B, Larson A, Zanus C, Faletra F, Keren B, Musante L, Gourfinkel-An I, Perrine C, Demily C, Lesca G, Liao W, Ren D. Bayat A, et al. Among authors: zanus c. Genet Med. 2023 Sep;25(9):100894. doi: 10.1016/j.gim.2023.100894. Epub 2023 May 11. Genet Med. 2023. PMID: 37183800 Free article.
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Radio FC, Pang K, Ciolfi A, Levy MA, Hernández-García A, Pedace L, Pantaleoni F, Liu Z, de Boer E, Jackson A, Bruselles A, McConkey H, Stellacci E, Lo Cicero S, Motta M, Carrozzo R, Dentici ML, McWalter K, Desai M, Monaghan KG, Telegrafi A, Philippe C, Vitobello A, Au M, Grand K, Sanchez-Lara PA, Baez J, Lindstrom K, Kulch P, Sebastian J, Madan-Khetarpal S, Roadhouse C, MacKenzie JJ, Monteleone B, Saunders CJ, Jean Cuevas JK, Cross L, Zhou D, Hartley T, Sawyer SL, Monteiro FP, Secches TV, Kok F, Schultz-Rogers LE, Macke EL, Morava E, Klee EW, Kemppainen J, Iascone M, Selicorni A, Tenconi R, Amor DJ, Pais L, Gallacher L, Turnpenny PD, Stals K, Ellard S, Cabet S, Lesca G, Pascal J, Steindl K, Ravid S, Weiss K, Castle AMR, Carter MT, Kalsner L, de Vries BBA, van Bon BW, Wevers MR, Pfundt R, Stegmann APA, Kerr B, Kingston HM, Chandler KE, Sheehan W, Elias AF, Shinde DN, Towne MC, Robin NH, Goodloe D, Vanderver A, Sherbini O, Bluske K, Hagelstrom RT, Zanus C, Faletra F, Musante L, Kurtz-Nelson EC, Earl RK, Anderlid BM, Morin G, van Slegtenhorst M, Diderich KEM, Brooks AS, Gribnau J, Boers RG, Finestra TR, Carter LB, Rauch A, Gasparini P, Boycott KM, Barakat TS, Graham JM Jr, Fai… See abstract for full author list ➔ Radio FC, et al. Among authors: zanus c. Am J Hum Genet. 2021 Mar 4;108(3):502-516. doi: 10.1016/j.ajhg.2021.01.015. Epub 2021 Feb 16. Am J Hum Genet. 2021. PMID: 33596411 Free PMC article.
Mutations in the spliceosomal gene SNW1 cause neurodevelopment disorders with microcephaly.
Ji L, Yan J, Losurdo NA, Wang H, Liu L, Li K, Liu Z, Guo Z, Xu J, Bibo A, Ren D, Yang K, Luo Y, Yang F, Wang G, Xiang Z, Wang Y, Zhan H, Pan H, Hu J, Zhong J, Abou Jamra R, Zacher P, Musante L, Faletra F, Costa P, Zanus C, Couque N, Ruaud L, Cueto-González AM, San Nicolas Fernández H, Tizzano E, Martinez Gil N, Liu X, Liao W, Abi Farraj L, Huang AY, Zhang L, Murali A, Schmuel E, Han CS, King K, Gu W, Wang P, Li K, Link N, He G, Bian S, Mao X. Ji L, et al. Among authors: zanus c. J Clin Invest. 2025 Jul 3;135(18):e186119. doi: 10.1172/JCI186119. eCollection 2025 Sep 16. J Clin Invest. 2025. PMID: 40608414 Free PMC article.
Optimizing pediatric status epilepticus management: The role of early midazolam infusion and adherence to clinical practice guidelines.
Rosati A, Bartolotta P, Marini C, Mondardini MC, Cordelli DM, Fetta A, Bergonzini L, L'Erario M, Cannizzaro G, Mongelli E, Tona C, Sartori S, Bonardi CM, Chiusolo F, Vigevano F, Specchio N, Darra F, Proietti J, Biban P, Cesaroni E, Simonini A, Izzo F, Mastrangelo M, Olivotto S, Pulitanò SM, Battaglia DI, Buratti S, Giacheri E, Zanus C, Costa P, Vittorini R, Conio A, Amigoni A, Fusco L; Italian Pediatric Status Epilepticus Group. Rosati A, et al. Among authors: zanus c. Epilepsia. 2025 Sep;66(9):3193-3206. doi: 10.1111/epi.18455. Epub 2025 May 16. Epilepsia. 2025. PMID: 40377450
COVID-19 Pandemic School Disruptions and Acute Mental Health in Children and Adolescents.
Davico C, Marcotulli D, Abbracciavento G, Anfosso T, Apicella M, Averna R, Bazzoni M, Calderoni D, Cammisa L, Carta A, Carucci S, Cozzi G, Di Santo F, Fazzi E, Lux C, Narducci C, Nobili L, Onida I, Pisano T, Raucci U, Sforzi I, Siri L, Sotgiu S, Tavano S, Terrinoni A, Uccella S, Vicari S, Zanus C, Vitiello B; Italian Covid-Child and Adolescent Psychiatric Emergencies Study Group. Davico C, et al. Among authors: zanus c. JAMA Netw Open. 2024 Aug 1;7(8):e2425829. doi: 10.1001/jamanetworkopen.2024.25829. JAMA Netw Open. 2024. PMID: 39102265 Free PMC article.
The natural history of CDKL5 deficiency disorder into adulthood.
Aledo-Serrano A, Lewis-Smith D, Leonard H, Bayat A, Junaid M, Hagebeuk E, Fenger CD, Laze J, Rossi A, Trivisano M, Gonzalez-Giraldez B, Lama J, Krey I, Platzer K, Brischoux-Boucher E, Sarret C, Lomax LB, Zanus C, Musante L, Costa P, Moloney P, Delanty N, Russo A, Schönewolf-Greulich B, Bisgaard AM, Berger C, Freri E, Takahashi S, Zacher P, Jung J, Demarest S, Marsh E, Percy A, Neul J, Olson H, Swanson L, Meletti S, Cioclu MC, Ali QZ, Suller A, Beltran-Corbellini A, Gil-Nagel A, Zhang X, Previtali R, Højte AF, Specchio N, Downs J, Lesca G, Rubboli G, Andrade D, Gardella E, Pestana E, Devinsky O, Benke T, Helbig I, Thomas R, Møller RS. Aledo-Serrano A, et al. Among authors: zanus c. medRxiv [Preprint]. 2025 Jan 13:2025.01.12.24318239. doi: 10.1101/2025.01.12.24318239. medRxiv. 2025. PMID: 39867409 Free PMC article. Preprint.
Neuroimaging Changes in Menkes Disease, Part 1.
Manara R, D'Agata L, Rocco MC, Cusmai R, Freri E, Pinelli L, Darra F, Procopio E, Mardari R, Zanus C, Di Rosa G, Soddu C, Severino M, Ermani M, Longo D, Sartori S; Menkes Working Group in the Italian Neuroimaging Network for Rare Diseases. Manara R, et al. Among authors: zanus c. AJNR Am J Neuroradiol. 2017 Oct;38(10):1850-1857. doi: 10.3174/ajnr.A5186. Epub 2017 May 11. AJNR Am J Neuroradiol. 2017. PMID: 28495946 Free PMC article. Review.
Electro-clinical changes during CASK-related encephalopathy evolution.
Freri E, Caputo D, Stabile A, Canafoglia L, Costa P, Danti FR, Granata T, Castellotti B, Musante L, Zanus C. Freri E, et al. Among authors: zanus c. Clin Neurophysiol. 2025 Aug;176:2110778. doi: 10.1016/j.clinph.2025.2110778. Epub 2025 Jun 8. Clin Neurophysiol. 2025. PMID: 40516388 No abstract available.
Relapse risk factors in anti-N-methyl-D-aspartate receptor encephalitis.
Nosadini M, Granata T, Matricardi S, Freri E, Ragona F, Papetti L, Suppiej A, Valeriani M, Sartori S; Italian Working Group on Paediatric Anti-N-methyl-D-aspartate Receptor Encephalitis. Nosadini M, et al. Dev Med Child Neurol. 2019 Sep;61(9):1101-1107. doi: 10.1111/dmcn.14267. Epub 2019 Jun 7. Dev Med Child Neurol. 2019. PMID: 31175679 Free article.
The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge.
Musante L, Costa P, Zanus C, Faletra F, Murru FM, Bianco AM, La Bianca M, Ragusa G, Athanasakis E, d'Adamo AP, Carrozzi M, Gasparini P. Musante L, et al. Among authors: zanus c. Genes (Basel). 2022 Mar 12;13(3):500. doi: 10.3390/genes13030500. Genes (Basel). 2022. PMID: 35328054 Free PMC article.
33 results