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Page 1
Long-term follow-up in children with benign convulsions associated with gastroenteritis.
Verrotti A, Moavero R, Vigevano F, Cantonetti L, Guerra A, Spezia E, Tricarico A, Nanni G, Agostinelli S, Chiarelli F, Parisi P, Capovilla G, Beccaria F, Spalice A, Coppola G, Franzoni E, Gentile V, Casellato S, Veggiotti P, Malgesini S, Crichiutti G, Balestri P, Grosso S, Zamponi N, Incorpora G, Savasta S, Costa P, Pruna D, Cusmai R. Verrotti A, et al. Among authors: veggiotti p. Eur J Paediatr Neurol. 2014 Sep;18(5):572-7. doi: 10.1016/j.ejpn.2014.04.006. Epub 2014 Apr 14. Eur J Paediatr Neurol. 2014. PMID: 24780603
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform.
Della Mina E, Ciccone R, Brustia F, Bayindir B, Limongelli I, Vetro A, Iascone M, Pezzoli L, Bellazzi R, Perotti G, De Giorgis V, Lunghi S, Coppola G, Orcesi S, Merli P, Savasta S, Veggiotti P, Zuffardi O. Della Mina E, et al. Among authors: veggiotti p. Eur J Hum Genet. 2015 Mar;23(3):354-62. doi: 10.1038/ejhg.2014.92. Epub 2014 May 21. Eur J Hum Genet. 2015. PMID: 24848745 Free PMC article.
Post-operative benefits of animal-assisted therapy in pediatric surgery: a randomised study.
Calcaterra V, Veggiotti P, Palestrini C, De Giorgis V, Raschetti R, Tumminelli M, Mencherini S, Papotti F, Klersy C, Albertini R, Ostuni S, Pelizzo G. Calcaterra V, et al. Among authors: veggiotti p. PLoS One. 2015 Jun 3;10(6):e0125813. doi: 10.1371/journal.pone.0125813. eCollection 2015. PLoS One. 2015. PMID: 26039494 Free PMC article. Clinical Trial.
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease.
Calì E, Lin SJ, Rocca C, Sahin Y, Al Shamsi A, El Chehadeh S, Chaabouni M, Mankad K, Galanaki E, Efthymiou S, Sudhakar S, Athanasiou-Fragkouli A, Çelik T, Narlı N, Bianca S, Murphy D, De Carvalho Moreira FM; SYNaPS Study Group; Andrea Accogli, Petree C, Huang K, Monastiri K, Edizadeh M, Nardello R, Ognibene M, De Marco P, Ruggieri M, Zara F, Striano P, Şahin Y, Al-Gazali L, Abi Warde MT, Gerard B, Zifarelli G, Beetz C, Fortuna S, Soler M, Valente EM, Varshney G, Maroofian R, Salpietro V, Houlden H. Calì E, et al. Genet Med. 2022 Oct;24(10):2194-2203. doi: 10.1016/j.gim.2022.07.013. Epub 2022 Aug 24. Genet Med. 2022. PMID: 36001086 Free PMC article.
Long-term health outcome and quality of life in children with multisystem inflammatory syndrome: findings from multidisciplinary follow-up at an Italian tertiary-care paediatric hospital.
D'Auria E, Bova SM, Dallapiccola AR, De Santis R, Leone A, Calcaterra V, Mannarino S, Garbin M, Olivotto S, Zirpoli S, Ghezzi M, Munari AM, Verduci E, Farolfi A, Bosetti A, Perico V, Capetti P, Gadda A, Gianolio L, Lo Monaco G, Lonoce L, Previtali R, Serafini L, Taranto S, Veggiotti P, Zuccotti G. D'Auria E, et al. Among authors: veggiotti p. Eur J Pediatr. 2024 Nov;183(11):4885-4895. doi: 10.1007/s00431-024-05706-0. Epub 2024 Sep 10. Eur J Pediatr. 2024. PMID: 39256240 Free PMC article.
Benign convulsions associated with mild gastroenteritis: a multicenter clinical study.
Verrotti A, Nanni G, Agostinelli S, Parisi P, Capovilla G, Beccaria F, Iannetti P, Spalice A, Coppola G, Franzoni E, Gentile V, Casellato S, Veggiotti P, Malgesini S, Crichiutti G, Balestri P, Grosso S, Zamponi N, Incorpora G, Savasta S, Costa P, Pruna D, Chiarelli F. Verrotti A, et al. Among authors: veggiotti p. Epilepsy Res. 2011 Feb;93(2-3):107-14. doi: 10.1016/j.eplepsyres.2010.11.004. Epub 2010 Dec 10. Epilepsy Res. 2011. PMID: 21146369
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment.
Salpietro V, Malintan NT, Llano-Rivas I, Spaeth CG, Efthymiou S, Striano P, Vandrovcova J, Cutrupi MC, Chimenz R, David E, Di Rosa G, Marce-Grau A, Raspall-Chaure M, Martin-Hernandez E, Zara F, Minetti C; Deciphering Developmental Disorders Study; SYNAPS Study Group; Bello OD, De Zorzi R, Fortuna S, Dauber A, Alkhawaja M, Sultan T, Mankad K, Vitobello A, Thomas Q, Mau-Them FT, Faivre L, Martinez-Azorin F, Prada CE, Macaya A, Kullmann DM, Rothman JE, Krishnakumar SS, Houlden H. Salpietro V, et al. Am J Hum Genet. 2019 Apr 4;104(4):721-730. doi: 10.1016/j.ajhg.2019.02.016. Epub 2019 Mar 28. Am J Hum Genet. 2019. PMID: 30929742 Free PMC article.
Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination.
Efthymiou S, Salpietro V, Malintan N, Poncelet M, Kriouile Y, Fortuna S, De Zorzi R, Payne K, Henderson LB, Cortese A, Maddirevula S, Alhashmi N, Wiethoff S, Ryten M, Botia JA, Provitera V, Schuelke M, Vandrovcova J; SYNAPS Study Group; Walsh L, Torti E, Iodice V, Najafi M, Karimiani EG, Maroofian R, Siquier-Pernet K, Boddaert N, De Lonlay P, Cantagrel V, Aguennouz M, El Khorassani M, Schmidts M, Alkuraya FS, Edvardson S, Nolano M, Devaux J, Houlden H. Efthymiou S, et al. Brain. 2019 Oct 1;142(10):2948-2964. doi: 10.1093/brain/awz248. Brain. 2019. PMID: 31501903 Free PMC article.
238 results