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A PAK1 Mutational Hotspot Within the Regulatory CRIPaK Domain is Associated With Severe Neurodevelopmental Disorders in Children.
Scorrano G, D'Onofrio G, Accogli A, Severino M, Buchert R, Kotzaeridou U, Iapadre G, Farello G, Iacomino M, Dono F, Di Francesco L, Fiorile MF, La Bella S, Corsello A, Calì E, Di Rosa G, Gitto E, Verrotti A, Fortuna S, Soler MA, Chiarelli F, Oehl-Jaschkowitz B, Haack TB, Zara F, Striano P, Salpietro V. Scorrano G, et al. Among authors: gitto e. Pediatr Neurol. 2023 Dec;149:84-92. doi: 10.1016/j.pediatrneurol.2023.09.005. Epub 2023 Sep 16. Pediatr Neurol. 2023. PMID: 37820543
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.
Disrupted Seasonality of Respiratory Viruses: Retrospective Analysis of Pediatric Hospitalizations in Italy from 2019 to 2023.
Palmas G, Trapani S, Agosti M, Alberti I, Aricò M, Azzari C, Bresesti I, Bressan S, Caselli D, Cazzato S, Da Dalt L, Felici E, Garazzino S, Giannattasio A, Iudica G, Lanari M, Marchisio P, Martelli G, Milani GP, Soro F, Piccotti E, Tirelli F, Resti M, Indolfi G; Associazione Ospedali Pediatrici Italiani (AOPI) Network. Palmas G, et al. J Pediatr. 2024 May;268:113932. doi: 10.1016/j.jpeds.2024.113932. Epub 2024 Feb 1. J Pediatr. 2024. PMID: 38309520
Adolescent gender dysphoria management: position paper from the Italian Academy of Pediatrics, the Italian Society of Pediatrics, the Italian Society for Pediatric Endocrinology and Diabetes, the Italian Society of Adolescent Medicine and the Italian Society of Child and Adolescent Neuropsychiatry.
Calcaterra V, Tornese G, Zuccotti G, Staiano A, Cherubini V, Gaudino R, Fazzi EM, Barbi E, Chiarelli F, Corsello G, Esposito SMR, Ferrara P, Iughetti L, Laforgia N, Maghnie M, Marseglia G, Perilongo G, Pettoello-Mantovani M, Ruggieri M, Russo G, Salerno M, Striano P, Valerio G, Wasniewska M; Italian Academy of Pediatrics, Italian Society of Pediatrics, Italian Society for Pediatric Endocrinology and Diabetes, Italian Society of Adolescent Medicine, Italian Society of Child and Adolescent Neuropsychiatry. Calcaterra V, et al. Ital J Pediatr. 2024 Apr 18;50(1):73. doi: 10.1186/s13052-024-01644-7. Ital J Pediatr. 2024. PMID: 38637868 Free PMC article.
Onasemnogene abeparvovec in spinal muscular atrophy: predictors of efficacy and safety in naïve patients with spinal muscular atrophy and following switch from other therapies.
Pane M, Berti B, Capasso A, Coratti G, Varone A, D'Amico A, Messina S, Masson R, Sansone VA, Donati MA, Agosto C, Bruno C, Ricci F, Pini A, Gagliardi D, Filosto M, Corti S, Leone D, Palermo C, Onesimo R, De Sanctis R, Ricci M, Bitetti I, Sframeli M, Dosi C, Albamonte E, Ticci C, Brolatti N, Bertini E, Finkel R, Mercuri E; ITASMAc group. Pane M, et al. EClinicalMedicine. 2023 May 5;59:101997. doi: 10.1016/j.eclinm.2023.101997. eCollection 2023 May. EClinicalMedicine. 2023. PMID: 37197706 Free PMC article.
The Italian Perinatal Surveillance System SPItOSS: insights from Confidential Enquiries.
Salvatore MA, Salvi S, D'Aloja P, Vergani P, Bellù R, Dani C, Mecacci F, D'Anna MR, Ferrazzani S, Battagliarin G, Paolillo P, Picone S, Ramenghi L, Vento G, Donati S; Italian Perinatal Surveillance System-SPItOSS Working Group. Salvatore MA, et al. Ital J Pediatr. 2024 Dec 4;50(1):256. doi: 10.1186/s13052-024-01811-w. Ital J Pediatr. 2024. PMID: 39633409 Free PMC article.
Oxidative Stress in Fetuses and Newborns.
Perrone S, Tataranno ML, Beretta V, Buonocore G, Gitto E. Perrone S, et al. Among authors: gitto e. Antioxidants (Basel). 2024 Sep 25;13(10):1157. doi: 10.3390/antiox13101157. Antioxidants (Basel). 2024. PMID: 39456411 Free PMC article.
170 results