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261 results

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Blockade of IGF2R improves muscle regeneration and ameliorates Duchenne muscular dystrophy.
Bella P, Farini A, Banfi S, Parolini D, Tonna N, Meregalli M, Belicchi M, Erratico S, D'Ursi P, Bianco F, Legato M, Ruocco C, Sitzia C, Sangiorgi S, Villa C, D'Antona G, Milanesi L, Nisoli E, Mauri P, Torrente Y. Bella P, et al. Among authors: banfi s. EMBO Mol Med. 2020 Jan 9;12(1):e11019. doi: 10.15252/emmm.201911019. Epub 2019 Dec 2. EMBO Mol Med. 2020. PMID: 31793167 Free PMC article.
Whole genome sequencing identifies elusive variants in genetically unsolved Italian inherited retinal disease patients.
Zeuli R, Karali M, de Bruijn SE, Rodenburg K, Scarpato M, Capasso D, Astuti GDN, Gilissen C, Rodríguez-Hidalgo M, Ruiz-Ederra J, Testa F, Simonelli F, Cremers FPM, Banfi S, Roosing S. Zeuli R, et al. Among authors: banfi s. HGG Adv. 2024 May 29:100314. doi: 10.1016/j.xhgg.2024.100314. Online ahead of print. HGG Adv. 2024. PMID: 38816995 Free article.
Representation of Women Among Individuals With Mild Variants in ABCA4-Associated Retinopathy: A Meta-Analysis.
Cornelis SS, IntHout J, Runhart EH, Grunewald O, Lin S, Corradi Z, Khan M, Hitti-Malin RJ, Whelan L, Farrar GJ, Sharon D, van den Born LI, Arno G, Simcoe M, Michaelides M, Webster AR, Roosing S, Mahroo OA, Dhaenens CM, Cremers FPM; Study Group. Cornelis SS, et al. JAMA Ophthalmol. 2024 May 1;142(5):463-471. doi: 10.1001/jamaophthalmol.2024.0660. JAMA Ophthalmol. 2024. PMID: 38602673
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Hitti-Malin RJ, Panneman DM, Corradi Z, Boonen EGM, Astuti G, Dhaenens CM, Stöhr H, Weber BHF, Sharon D, Banin E, Karali M, Banfi S, Ben-Yosef T, Glavač D, Farrar GJ, Ayuso C, Liskova P, Dudakova L, Vajter M, Ołdak M, Szaflik JP, Matynia A, Gorin MB, Kämpjärvi K, Bauwens M, De Baere E, Hoyng CB, Li CHZ, Klaver CCW, Inglehearn CF, Fujinami K, Rivolta C, Allikmets R, Zernant J, Lee W, Podhajcer OL, Fakin A, Sajovic J, AlTalbishi A, Valeina S, Taurina G, Vincent AL, Roberts L, Ramesar R, Sartor G, Luppi E, Downes SM, van den Born LI, McLaren TL, De Roach JN, Lamey TM, Thompson JA, Chen FK, Tracewska AM, Kamakari S, Sallum JMF, Bolz HJ, Kayserili H, Roosing S, Cremers FPM. Hitti-Malin RJ, et al. Among authors: banfi s. Biomolecules. 2024 Mar 19;14(3):367. doi: 10.3390/biom14030367. Biomolecules. 2024. PMID: 38540785 Free PMC article.
Late-onset mucopolysaccharidosis type IIIA mimicking Usher syndrome.
De Falco A, Karali M, Criscuolo C, Testa F, Barillari MR, Scarpato M, Gaudieri V, Cuocolo A, Russo A, Nigro V, Simonelli F, Banfi S, Brunetti-Pierri N. De Falco A, et al. Among authors: banfi s. Am J Med Genet A. 2024 May;194(5):e63517. doi: 10.1002/ajmg.a.63517. Epub 2023 Dec 27. Am J Med Genet A. 2024. PMID: 38149346
Erratum: A tetracationic porphyrin with dual anti-prion activity.
Masone A, Zucchelli C, Caruso E, Lavigna G, Eraña H, Giachin G, Tapella L, Comerio L, Restelli E, Raimondi I, Elezgarai SR, De Leo F, Quilici G, Taiarol L, Oldrati M, Lorenzo NL, García-Martínez S, Cagnotto A, Lucchetti J, Gobbi M, Vanni I, Nonno R, Di Bari MA, Tully MD, Cecatiello V, Ciossani G, Pasqualato S, Van Anken E, Salmona M, Castilla J, Requena JR, Banfi S, Musco G, Chiesa R. Masone A, et al. Among authors: banfi s. iScience. 2023 Oct 18;26(11):108223. doi: 10.1016/j.isci.2023.108223. eCollection 2023 Nov 17. iScience. 2023. PMID: 37915608 Free PMC article.
261 results