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Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
Li D, Wang Q, Bayat A, Battig MR, Zhou Y, Bosch DG, van Haaften G, Granger L, Petersen AK, Pérez-Jurado LA, Aznar-Laín G, Aneja A, Hancarova M, Bendova S, Schwarz M, Kremlikova Pourova R, Sedlacek Z, Keena BA, March ME, Hou C, O'Connor N, Bhoj EJ, Harr MH, Lemire G, Boycott KM, Towne M, Li M, Tarnopolsky M, Brady L, Parker MJ, Faghfoury H, Parsley LK, Agolini E, Dentici ML, Novelli A, Wright M, Palmquist R, Lai K, Scala M, Striano P, Iacomino M, Zara F, Cooper A, Maarup TJ, Byler M, Lebel RR, Balci TB, Louie R, Lyons M, Douglas J, Nowak C, Afenjar A, Hoyer J, Keren B, Maas SM, Motazacker MM, Martinez-Agosto JA, Rabani AM, McCormick EM, Falk MJ, Ruggiero SM, Helbig I, Møller RS, Tessarollo L, Tomassoni Ardori F, Palko ME, Hsieh TC, Krawitz PM, Ganapathi M, Gelb BD, Jobanputra V, Wilson A, Greally J, Jacquemont S, Jizi K, Bruel AL, Quelin C, Misra VK, Chick E, Romano C, Greco D, Arena A, Morleo M, Nigro V, Seyama R, Uchiyama Y, Matsumoto N, Taira R, Tashiro K, Sakai Y, Yigit G, Wollnik B, Wagner M, Kutsche B, Hurst AC, Thompson ML, Schmidt R, Randolph L, Spillmann RC, Shashi V, Higginbotham EJ, Cordeiro D, Carnevale A, Costain G, Khan T, Funalot B, Tran Mau-Them F, Fernandez … See abstract for full author list ➔ Li D, et al. Among authors: romano c. J Clin Invest. 2024 Jan 2;134(1):e171235. doi: 10.1172/JCI171235. J Clin Invest. 2024. PMID: 37962958 Free PMC article.
In utero gene therapy rescues microcephaly caused by Pqbp1-hypofunction in neural stem progenitor cells.
Ito H, Shiwaku H, Yoshida C, Homma H, Luo H, Chen X, Fujita K, Musante L, Fischer U, Frints SG, Romano C, Ikeuchi Y, Shimamura T, Imoto S, Miyano S, Muramatsu SI, Kawauchi T, Hoshino M, Sudol M, Arumughan A, Wanker EE, Rich T, Schwartz C, Matsuzaki F, Bonni A, Kalscheuer VM, Okazawa H. Ito H, et al. Among authors: romano c. Mol Psychiatry. 2015 Apr;20(4):459-71. doi: 10.1038/mp.2014.69. Epub 2014 Jul 29. Mol Psychiatry. 2015. PMID: 25070536 Free PMC article.
Efficacy and safety of a new low-volume PEG with citrate and simethicone bowel preparation for pediatric elective colonoscopy: Phase 3 RCT.
Russo G, Alvisi P, Romano C, Angelino G, Lemale J, Lachaux A, Lionetti P, Veereman G, Ruggiero C, Padovani M, Tacchi R, Cenci F, Cucchiara S, Oliva S. Russo G, et al. Among authors: romano c. Endosc Int Open. 2024 Apr 26;12(4):E629-E638. doi: 10.1055/a-2251-3372. eCollection 2024 Apr. Endosc Int Open. 2024. PMID: 38681144 Free PMC article.
Phylodynamic and Evolution of the Hemagglutinin (HA) and Neuraminidase (NA) Genes of Influenza A(H1N1) pdm09 Viruses Circulating in the 2009 and 2023 Seasons in Italy.
Scarpa F, Sernicola L, Farcomeni S, Ciccozzi A, Sanna D, Casu M, Vitale M, Cicenia A, Giovanetti M, Romano C, Branda F, Ciccozzi M, Borsetti A. Scarpa F, et al. Among authors: romano c. Pathogens. 2024 Apr 17;13(4):334. doi: 10.3390/pathogens13040334. Pathogens. 2024. PMID: 38668289 Free PMC article.
1,789 results