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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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1998 | 1 |
2014 | 1 |
2018 | 1 |
2020 | 2 |
2021 | 2 |
2023 | 1 |
2024 | 0 |
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Page 1
Recessive MECR pathogenic variants cause an LHON-like optic neuropathy.
J Med Genet. 2023 Dec 21;61(1):93-101. doi: 10.1136/jmg-2023-109340.
J Med Genet. 2023.
PMID: 37734847
Free PMC article.
Mitochondrial Aminoacyl-tRNA Synthetase and Disease: The Yeast Contribution for Functional Analysis of Novel Variants.
Figuccia S, Degiorgi A, Ceccatelli Berti C, Baruffini E, Dallabona C, Goffrini P.
Figuccia S, et al. Among authors: degiorgi a.
Int J Mol Sci. 2021 Apr 26;22(9):4524. doi: 10.3390/ijms22094524.
Int J Mol Sci. 2021.
PMID: 33926074
Free PMC article.
Review.
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Modeling of pathogenic variants of mitochondrial DNA polymerase: insight into the replication defects and implication for human disease.
Hoyos-Gonzalez N, Trasviña-Arenas CH, Degiorgi A, Castro-Lara AY, Peralta-Castro A, Jimenez-Sandoval P, Diaz-Quezada C, Lodi T, Baruffini E, Brieba LG.
Hoyos-Gonzalez N, et al. Among authors: degiorgi a.
Biochim Biophys Acta Gen Subj. 2020 Jul;1864(7):129608. doi: 10.1016/j.bbagen.2020.129608. Epub 2020 Mar 29.
Biochim Biophys Acta Gen Subj. 2020.
PMID: 32234506
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Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features.
Benincá C, Zanette V, Brischigliaro M, Johnson M, Reyes A, Valle DAD, J Robinson A, Degiorgi A, Yeates A, Telles BA, Prudent J, Baruffini E, S F Santos ML, R de Souza RL, Fernandez-Vizarra E, Whitworth AJ, Zeviani M.
Benincá C, et al. Among authors: degiorgi a.
J Med Genet. 2021 Mar;58(3):155-167. doi: 10.1136/jmedgenet-2020-106861. Epub 2020 May 21.
J Med Genet. 2021.
PMID: 32439808
Free PMC article.
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Implementation of the surgical safety checklist in Switzerland and perceptions of its benefits: cross-sectional survey.
Cullati S, Licker MJ, Francis P, Degiorgi A, Bezzola P, Courvoisier DS, Chopard P.
Cullati S, et al. Among authors: degiorgi a.
PLoS One. 2014 Jul 18;9(7):e101915. doi: 10.1371/journal.pone.0101915. eCollection 2014.
PLoS One. 2014.
PMID: 25036453
Free PMC article.
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Is team-based perception of safety in the operating room associated with self-reported wrong-site surgery? An exploratory cross-sectional survey among physicians.
Cullati S, Courvoisier DS, Francis P, Degiorgi A, Bezzola P, Licker MJ, Chopard P.
Cullati S, et al. Among authors: degiorgi a.
Health Sci Rep. 2018 May 29;1(6):e42. doi: 10.1002/hsr2.42. eCollection 2018 Jun.
Health Sci Rep. 2018.
PMID: 30623079
Free PMC article.
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Colony stimulating factor-1-induced osteoclast spreading depends on substrate and requires the vitronectin receptor and the c-src proto-oncogene.
Teti A, Taranta A, Migliaccio S, Degiorgi A, Santandrea E, Villanova I, Faraggiana T, Chellaiah M, Hruska KA.
Teti A, et al. Among authors: degiorgi a.
J Bone Miner Res. 1998 Jan;13(1):50-8. doi: 10.1359/jbmr.1998.13.1.50.
J Bone Miner Res. 1998.
PMID: 9443790
Free article.
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