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SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation.
Nashabat M, Nabavizadeh N, Saraçoğlu HP, Sarıbaş B, Avcı Ş, Börklü E, Beillard E, Yılmaz E, Uygur SE, Kayhan CK, Bosco L, Eren ZB, Steindl K, Richter MF, Bademci G, Rauch A, Fattahi Z, Valentino ML, Connolly AM, Bahr A, Viola L, Bergmann AK, Rocha ME, Peart L, Castro-Rojas DL, Bültmann E, Khan S, Giarrana ML, Teleanu RI, Gonzalez JM, Pini A, Schädlich IS, Vill K, Brugger M, Zuchner S, Pinto A, Donkervoort S, Bivona SA, Riza A; Undiagnosed Diseases Network; Streata I, Gläser D, Baquero-Montoya C, Garcia-Restrepo N, Kotzaeridou U, Brunet T, Epure DA, Bertoli-Avella A, Kariminejad A, Tekin M, von Hardenberg S, Bönnemann CG, Stettner GM, Zanni G, Kayserili H, Oflazer ZP, Escande-Beillard N. Nashabat M, et al. Among authors: bosco l. Nat Commun. 2024 Feb 27;15(1):1758. doi: 10.1038/s41467-024-45933-5. Nat Commun. 2024. PMID: 38413582 Free PMC article.
Human Papillomavirus and Male Infertility: What Do We Know?
Sucato A, Buttà M, Bosco L, Di Gregorio L, Perino A, Capra G. Sucato A, et al. Among authors: bosco l. Int J Mol Sci. 2023 Dec 16;24(24):17562. doi: 10.3390/ijms242417562. Int J Mol Sci. 2023. PMID: 38139389 Free PMC article. Review.
Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable?
Ricci M, Cicala G, Capasso A, Coratti G, Fiori S, Cutrona C, D'Amico A, Sansone VA, Bruno C, Messina S, Mongini T, Coccia M, Siciliano G, Pegoraro E, Masson R, Filosto M, Comi GP, Corti S, Ronchi D, Maggi L, D'Angelo MG, Vacchiano V, Ticci C, Ruggiero L, Verriello L, Ricci FS, Berardinelli AL, Maioli MA, Garibaldi M, Nigro V, Previtali SC, Pera MC, Tizzano E, Pane M, Tiziano FD, Mercuri E; ITASMAC Working Group. Ricci M, et al. Ann Neurol. 2023 Dec;94(6):1126-1135. doi: 10.1002/ana.26788. Epub 2023 Sep 22. Ann Neurol. 2023. PMID: 37695206 Free article.
Ecological barriers mediate spatiotemporal shifts of bird communities at a continental scale.
Marjakangas EL, Bosco L, Versluijs M, Xu Y, Santangeli A, Holopainen S, Mäkeläinen S, Herrando S, Keller V, Voříšek P, Brotons L, Johnston A, Princé K, Willis SG, Aghababyan K, Ajder V, Balmer DE, Bino T, Boyla KA, Chodkiewicz T, Del Moral JC, Mazal VD, Ferrarini A, Godinho C, Gustin M, Kalyakin M, Knaus P, Kuzmenko T, Lindström Å, Maxhuni Q, Molina B, Nagy K, Radišić D, Rajkov S, Rajković DZ, Raudoniki L, Sjeničić J, Stoychev S, Szép T, Teufelbauer N, Ursul S, van Turnhout CAM, Velevski M, Vikstrøm T, Wilk T, Voltzit O, Øien IJ, Sudfeldt C, Gerlach B, Lehikoinen A. Marjakangas EL, et al. Among authors: bosco l. Proc Natl Acad Sci U S A. 2023 Jun 6;120(23):e2213330120. doi: 10.1073/pnas.2213330120. Epub 2023 May 30. Proc Natl Acad Sci U S A. 2023. PMID: 37252949 Free PMC article.
214 results