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Page 1
Variants in UBAP1L lead to autosomal recessive rod-cone and cone-rod dystrophy.
Zeitz C, Navarro J, Azizzadeh Pormehr L, Méjécase C, Neves LM, Letellier C, Condroyer C, Albadri S, Amprou A, Antonio A, Ben-Yacoub T, Wohlschlegel J, Andrieu C, Serafini M, Bianco L, Antropoli A, Nassisi M, El Shamieh S, Chantot-Bastaraud S, Mohand-Saïd S, Smirnov V, Sahel JA, Del Bene F, Audo I. Zeitz C, et al. Among authors: del bene f. Genet Med. 2024 Jan 28:101081. doi: 10.1016/j.gim.2024.101081. Online ahead of print. Genet Med. 2024. PMID: 38293907 Free article.
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.
Morleo M, Venditti R, Theodorou E, Briere LC, Rosello M, Tirozzi A, Tammaro R, Al-Badri N, High FA, Shi J; Undiagnosed Diseases Network; Telethon Undiagnosed Diseases Program; Putti E, Ferrante L, Cetrangolo V, Torella A, Walker MA, Tenconi R, Iascone M, Mei D, Guerrini R, van der Smagt J, Kroes HY, van Gassen KLI, Bilal M, Umair M, Pingault V, Attie-Bitach T, Amiel J, Ejaz R, Rodan L, Zollino M, Agrawal PB, Del Bene F, Nigro V, Sweetser DA, Franco B. Morleo M, et al. Among authors: del bene f. Am J Hum Genet. 2023 Aug 3;110(8):1377-1393. doi: 10.1016/j.ajhg.2023.06.012. Epub 2023 Jul 13. Am J Hum Genet. 2023. PMID: 37451268 Free PMC article.
The adaptor protein 2 (AP2) complex modulates habituation and behavioral selection across multiple pathways and time windows.
Zúñiga Mouret R, Greenbaum JP, Doll HM, Brody EM, Iacobucci EL, Roland NC, Simamora RC, Ruiz I, Seymour R, Ludwick L, Krawitz JA, Groneberg AH, Marques JC, Laborde A, Rajan G, Del Bene F, Orger MB, Jain RA. Zúñiga Mouret R, et al. Among authors: del bene f. iScience. 2024 Mar 8;27(4):109455. doi: 10.1016/j.isci.2024.109455. eCollection 2024 Apr 19. iScience. 2024. PMID: 38550987 Free PMC article.
In Vivo Fast Nonlinear Microscopy Reveals Impairment of Fast Axonal Transport Induced by Molecular Motor Imbalances in the Brain of Zebrafish Larvae.
Grimaud B, Frétaud M, Terras F, Bénassy A, Duroure K, Bercier V, Trippé-Allard G, Mohammedi R, Gacoin T, Del Bene F, Marquier F, Langevin C, Treussart F. Grimaud B, et al. Among authors: del bene f. ACS Nano. 2022 Dec 27;16(12):20470-20487. doi: 10.1021/acsnano.2c06799. Epub 2022 Dec 2. ACS Nano. 2022. PMID: 36459488 Free article.
Genome-wide association study meta-analysis of dizygotic twinning illuminates genetic regulation of female fecundity.
Mbarek H, Gordon SD, Duffy DL, Hubers N, Mortlock S, Beck JJ, Hottenga JJ, Pool R, Dolan CV, Actkins KV, Gerring ZF, Van Dongen J, Ehli EA, Iacono WG, Mcgue M, Chasman DI, Gallagher CS, Schilit SLP, Morton CC, Paré G, Willemsen G, Whiteman DC, Olsen CM, Derom C, Vlietinck R, Gudbjartsson D, Cannon-Albright L, Krapohl E, Plomin R, Magnusson PKE, Pedersen NL, Hysi P, Mangino M, Spector TD, Palviainen T, Milaneschi Y, Penninnx BW, Campos AI, Ong KK, Perry JRB, Lambalk CB, Kaprio J, Ólafsson Í, Duroure K, Revenu C, Rentería ME, Yengo L, Davis L, Derks EM, Medland SE, Stefansson H, Stefansson K, Del Bene F, Reversade B, Montgomery GW, Boomsma DI, Martin NG. Mbarek H, et al. Among authors: del bene f. Hum Reprod. 2024 Jan 5;39(1):240-257. doi: 10.1093/humrep/dead247. Hum Reprod. 2024. PMID: 38052102 Free PMC article.
The mesencephalic locomotor region recruits V2a reticulospinal neurons to drive forward locomotion in larval zebrafish.
Carbo-Tano M, Lapoix M, Jia X, Thouvenin O, Pascucci M, Auclair F, Quan FB, Albadri S, Aguda V, Farouj Y, Hillman EMC, Portugues R, Del Bene F, Thiele TR, Dubuc R, Wyart C. Carbo-Tano M, et al. Among authors: del bene f. Nat Neurosci. 2023 Oct;26(10):1775-1790. doi: 10.1038/s41593-023-01418-0. Epub 2023 Sep 4. Nat Neurosci. 2023. PMID: 37667039 Free PMC article.
Precise mutagenesis in zebrafish using cytosine base editors.
Rosello M, Serafini M, Concordet JP, Del Bene F. Rosello M, et al. Among authors: del bene f. Nat Protoc. 2023 Sep;18(9):2794-2813. doi: 10.1038/s41596-023-00854-3. Epub 2023 Jul 26. Nat Protoc. 2023. PMID: 37495752 Review.
Population pharmacokinetic-pharmacodynamic analysis of givinostat.
Fiorentini F, Germani M, Del Bene F, Pellizzoni C, Cazzaniga S, Rocchetti M, Bettica P. Fiorentini F, et al. Among authors: del bene f. Expert Opin Drug Metab Toxicol. 2023 Apr;19(4):229-238. doi: 10.1080/17425255.2023.2219839. Epub 2023 Jun 12. Expert Opin Drug Metab Toxicol. 2023. PMID: 37306105 Clinical Trial.
84 results