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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2005 2
2006 1
2007 1
2008 4
2009 3
2010 2
2011 2
2012 6
2013 6
2014 10
2015 12
2016 10
2017 7
2018 13
2019 9
2020 5
2021 15
2022 7
2023 13
2024 11

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129 results

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Page 1
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
Dystonia in ATP Synthase Defects: Reconnecting Mitochondria and Dopamine.
Indelicato E, Boesch S, Mencacci NE, Ghezzi D, Prokisch H, Winkelmann J, Zech M. Indelicato E, et al. Among authors: ghezzi d. Mov Disord. 2024 Jan;39(1):29-35. doi: 10.1002/mds.29657. Epub 2023 Nov 14. Mov Disord. 2024. PMID: 37964479 Free article. No abstract available.
129 results