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A sterilizable platform based on crosslinked xanthan gum for controlled-release of polymeric micelles: Ocular application for the delivery of neuroprotective compounds to the posterior eye segment.
Signorini S, Delledonne A, Pescina S, Bianchera A, Sissa C, Vivero-Lopez M, Alvarez-Lorenzo C, Santi P, Padula C, Nicoli S. Signorini S, et al. Int J Pharm. 2024 May 25;657:124141. doi: 10.1016/j.ijpharm.2024.124141. Epub 2024 Apr 26. Int J Pharm. 2024. PMID: 38677392 Free article.
Innovative formulations for the ocular delivery of coenzyme Q10.
Signorini S, Pescina S, Ricci C, Del Favero E, Vivero-Lopez M, Alvarez-Lorenzo C, Santi P, Padula C, Nicoli S. Signorini S, et al. Drug Deliv Transl Res. 2024 Dec 7. doi: 10.1007/s13346-024-01739-y. Online ahead of print. Drug Deliv Transl Res. 2024. PMID: 39645537
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.
Quinodoz M, Rodenburg K, Cvackova Z, Kaminska K, de Bruijn SE, Iglesias-Romero AB, Boonen EGM, Ullah M, Zomer N, Folcher M, Bijon J, Holtes LK, Tsang SH, Corradi Z, Freund KB, Shliaga S, Panneman DM, Hitti-Malin RJ, Ali M, AlTalbishi A, Andréasson S, Ansari G, Arno G, Astuti GDN, Ayuso C, Ayyagari R, Banfi S, Banin E, Barboni MTS, Bauwens M, Ben-Yosef T, Birch DG, Biswas P, Blanco-Kelly F, Bocquet B, Boon CJF, Branham K, Britten-Jones AC, Bujakowska KM, Cadena EL, Calzetti G, Cancellieri F, Cattaneo L, Issa PC, Chadderton N, Coutinho-Santos L, Daiger SP, De Baere E, de la Cerda B, De Roach JN, De Zaeytijd J, Derks R, Dhaenens CM, Dudakova L, Duncan JL, Farrar GJ, Feltgen N, Fernández-Caballero L, Sallum JMF, Gana S, Garanto A, Gardner JC, Gilissen C, Goto K, Gonzàlez-Duarte R, Griffiths-Jones S, Haack TB, Haer-Wigman L, Hardcastle AJ, Hayashi T, Héon E, Hoischen A, Holtan JP, Hoyng CB, Ibanez MBB, Inglehearn CF, Iwata T, Jones K, Kalatzis V, Kamakari S, Karali M, Kellner U, Knézy K, Klaver CCW, Koenekoop RK, Kohl S, Kominami T, Kühlewein L, Lamey TM, Leroy BP, Martín-Gutiérrez MP, Martins N, Mauring L, Leibu R, Lin S, Liskova P, Lopez I, López-Rodríguez VRJ, Mahroo OA, Manes G, Mc… See abstract for full author list ➔ Quinodoz M, et al. Among authors: signorini sg. medRxiv [Preprint]. 2025 Jan 6:2025.01.06.24317169. doi: 10.1101/2025.01.06.24317169. medRxiv. 2025. PMID: 39830270 Free PMC article. Preprint.
Neuroradiologic, Clinical, and Genetic Characterization of Cerebellar Heterotopia: A Pediatric Multicentric Study.
Pasca L, Arrigoni F, Romaniello R, Severino MS, Politano D, D'Abrusco F, Garau J, Giorgis V, Carpani A, Signorini S, Orcesi S, D'Arco F, Alfei E, Cattaneo E, Rognone E, Uccella S, Divizia MT, Infantino P, Valente EM, Borgatti R, Pichiecchio A. Pasca L, et al. Among authors: signorini s. AJNR Am J Neuroradiol. 2025 Jan 8;46(1):170-177. doi: 10.3174/ajnr.A8450. AJNR Am J Neuroradiol. 2025. PMID: 39406511
Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome.
D'Abrusco F, Serpieri V, Taccagni CM, Garau J, Cattaneo L, Boggioni M, Gana S, Battini R, Bertini E, Zanni G, Boltshauser E, Borgatti R, Romaniello R, Signorini S, Leuzzi V, Caputi C, Manti F, D'Arrigo S, De Laurentiis A, Graziano C, Lemke JR, Morelli F, Petković Ramadža D, Sirchia F, Giorgio E, Valente EM. D'Abrusco F, et al. Among authors: signorini s. Eur J Hum Genet. 2025 Jan;33(1):72-79. doi: 10.1038/s41431-024-01703-x. Epub 2024 Oct 11. Eur J Hum Genet. 2025. PMID: 39394465 Free PMC article.
227 results