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Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY-associated diseases.
Cavestro C, Morra F, Legati A, D'Amato M, Nasca A, Iuso A, Lubarr N, Morrison JL, Wheeler PG, Serra-Juhé C, Rodríguez-Santiago B, Turón-Viñas E, Prouteau C, Barth M, Hayflick SJ, Ghezzi D, Tiranti V, Di Meo I. Cavestro C, et al. Among authors: ghezzi d. Ann Clin Transl Neurol. 2024 May 15. doi: 10.1002/acn3.52079. Online ahead of print. Ann Clin Transl Neurol. 2024. PMID: 38750253 Free article.
Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease.
Sung AY, Guerra RM, Steenberge LH, Alston CL, Murayama K, Okazaki Y, Shimura M, Prokisch H, Ghezzi D, Torraco A, Carrozzo R, Rötig A, Taylor RW, Keck JL, Pagliarini DJ. Sung AY, et al. Among authors: ghezzi d. Nat Metab. 2024 May 8. doi: 10.1038/s42255-024-01039-2. Online ahead of print. Nat Metab. 2024. PMID: 38720117
Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant.
Blickhäuser B, Stenton SL, Neuhofer CM, Floride E, Nesbitt V, Fratter C, Koch J, Kauffmann B, Catarino C, Schlieben LD, Kopajtich R, Carelli V, Sadun AA, McFarland R, Fang F, La Morgia C, Paquay S, Nassogne MC, Ghezzi D, Lamperti C, Wortmann S, Poulton J, Klopstock T, Prokisch H. Blickhäuser B, et al. Among authors: ghezzi d. Brain. 2024 Mar 13:awae057. doi: 10.1093/brain/awae057. Online ahead of print. Brain. 2024. PMID: 38478578
Biallelic USP14 variants cause a syndromic neurodevelopmental disorder.
Ebstein F, Latypova X, Sharon Hung KY, Prado MA, Lee BH, Möller S, Wendlandt M, Zieba BA, Florenceau L, Vignard V, Poirier L, Toutain B, Moroni I, Dubucs C, Chassaing N, Horvath J, Prokisch H, Küry S, Bézieau S, Paulo JA, Finley D, Krüger E, Ghezzi D, Isidor B. Ebstein F, et al. Among authors: ghezzi d. Genet Med. 2024 Mar 10;26(6):101120. doi: 10.1016/j.gim.2024.101120. Online ahead of print. Genet Med. 2024. PMID: 38469793 Free article.
Ionized jet deposition of silver nanostructured coatings: Assessment of chemico-physical and biological behavior for application in orthopedics.
Graziani G, Ghezzi D, Boi M, Baldini N, Sassoni E, Cappelletti M, Fedrizzi G, Maglio M, Salamanna F, Tschon M, Martini L, Zaffagnini S, Fini M, Sartori M. Graziani G, et al. Among authors: ghezzi d. Biomater Adv. 2024 May;159:213815. doi: 10.1016/j.bioadv.2024.213815. Epub 2024 Feb 25. Biomater Adv. 2024. PMID: 38447383 Free article.
A natural biogenic fluorapatite as a new biomaterial for orthopedics and dentistry: antibacterial activity of lingula seashell and its use for nanostructured biomimetic coatings.
Graziani G, Ghezzi D, Nudelman F, Sassoni E, Laidlaw F, Cappelletti M, Boi M, Borciani G, Milita S, Bianchi M, Baldini N, Falini G. Graziani G, et al. Among authors: ghezzi d. J Mater Chem B. 2024 Feb 21;12(8):2083-2098. doi: 10.1039/d3tb02454g. J Mater Chem B. 2024. PMID: 38284627
205 results