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Movement disorder phenotype in CTNNB1-syndrome: A complex but recognizable phenomenology.
Garone G, Innocenti A, Grasso M, Mandarino A, Capuano A, Della Bella G, Frascarelli F, Diodato D, Onesimo R, Zampino G, Novelli A, Digilio MC, Bartuli A, Dentici ML, Parisi P, Galosi S, Tonduti D, Bertini E, Sinibaldi L, Specchio N. Garone G, et al. Among authors: parisi p. Parkinsonism Relat Disord. 2024 Sep;126:107057. doi: 10.1016/j.parkreldis.2024.107057. Epub 2024 Jul 9. Parkinsonism Relat Disord. 2024. PMID: 39067319
Age and sex prevalence estimate of Joubert syndrome in Italy.
Nuovo S, Bacigalupo I, Ginevrino M, Battini R, Bertini E, Borgatti R, Casella A, Micalizzi A, Nardella M, Romaniello R, Serpieri V, Zanni G, Valente EM, Vanacore N; JS Italian Study Group. Nuovo S, et al. Neurology. 2020 Feb 25;94(8):e797-e801. doi: 10.1212/WNL.0000000000008996. Epub 2020 Jan 22. Neurology. 2020. PMID: 31969461 Free PMC article.
Pediatric torticollis: clinical report and predictors of urgency of 1409 cases.
Raucci U, Roversi M, Ferretti A, Faccia V, Garone G, Panetta F, Mariani C, Rizzotto E, Torelli A, Colafati GS, Aulisa AG, Parisi P, Villani A. Raucci U, et al. Among authors: parisi p. Ital J Pediatr. 2024 Apr 24;50(1):86. doi: 10.1186/s13052-024-01653-6. Ital J Pediatr. 2024. PMID: 38659045 Free PMC article.
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
Salpietro V, Maroofian R, Zaki MS, Wangen J, Ciolfi A, Barresi S, Efthymiou S, Lamaze A, Aughey GN, Al Mutairi F, Rad A, Rocca C, Calì E, Accogli A, Zara F, Striano P, Mojarrad M, Tariq H, Giacopuzzi E, Taylor JC, Oprea G, Skrahina V, Rehman KU, Abd Elmaksoud M, Bassiony M, El Said HG, Abdel-Hamid MS, Al Shalan M, Seo G, Kim S, Lee H, Khang R, Issa MY, Elbendary HM, Rafat K, Marinakis NM, Traeger-Synodinos J, Ververi A, Sourmpi M, Eslahi A, Khadivi Zand F, Beiraghi Toosi M, Babaei M, Jackson A; SYNAPS Study Group; Bertoli-Avella A, Pagnamenta AT, Niceta M, Battini R, Corsello A, Leoni C, Chiarelli F, Dallapiccola B, Faqeih EA, Tallur KK, Alfadhel M, Alobeid E, Maddirevula S, Mankad K, Banka S, Ghayoor-Karimiani E, Tartaglia M, Chung WK, Green R, Alkuraya FS, Jepson JEC, Houlden H. Salpietro V, et al. Am J Hum Genet. 2024 Jan 4;111(1):200-210. doi: 10.1016/j.ajhg.2023.11.012. Epub 2023 Dec 20. Am J Hum Genet. 2024. PMID: 38118446 Free PMC article.
Epilepsy as a Novel Phenotype of BPTF-Related Disorders.
Ferretti A, Furlan M, Glinton KE, Fenger CD, Boschann F, Amlie-Wolf L, Zeidler S, Moretti R, Stoltenburg C, Tarquinio DC, Furia F, Parisi P, Rubboli G, Devinsky O, Mignot C, Gripp KW, Møller RS, Yang Y, Stankiewicz P, Gardella E. Ferretti A, et al. Among authors: parisi p. Pediatr Neurol. 2024 Sep;158:17-25. doi: 10.1016/j.pediatrneurol.2024.06.001. Epub 2024 Jun 11. Pediatr Neurol. 2024. PMID: 38936258
Best practices for the management of febrile seizures in children.
Ferretti A, Riva A, Fabrizio A, Bruni O, Capovilla G, Foiadelli T, Orsini A, Raucci U, Romeo A, Striano P, Parisi P. Ferretti A, et al. Among authors: parisi p. Ital J Pediatr. 2024 May 12;50(1):95. doi: 10.1186/s13052-024-01666-1. Ital J Pediatr. 2024. PMID: 38735928 Free PMC article. Review.
Effectiveness and safety of polyethylene-glycol-4000 versus sodium picosulphate plus magnesium oxide and citric acid for bowel cleansing before colonoscopy in children: A systematic review with meta-analysis.
Furio S, Lucarini A, Mennini M, Strisciuglio C, Felici E, Ferretti A, Parisi P, D'Angelo F, Marasco G, Barbara G, Ricciardi L, Piccirillo M, Di Nardo G. Furio S, et al. Among authors: parisi p. J Pediatr Gastroenterol Nutr. 2024 Oct 13. doi: 10.1002/jpn3.12388. Online ahead of print. J Pediatr Gastroenterol Nutr. 2024. PMID: 39400405 Review.
421 results