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

Year Number of Results
2006 2
2007 2
2008 1
2009 5
2010 4
2011 2
2012 2
2013 2
2014 5
2015 6
2016 3
2017 2
2018 3
2019 3
2020 4
2021 10
2023 4
2024 2

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55 results

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Page 1
Recessive MECR pathogenic variants cause an LHON-like optic neuropathy.
Fiorini C, Degiorgi A, Cascavilla ML, Tropeano CV, La Morgia C, Battista M, Ormanbekova D, Palombo F, Carbonelli M, Bandello F, Carelli V, Maresca A, Barboni P, Baruffini E, Caporali L. Fiorini C, et al. Among authors: baruffini e. 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.
DNA polymerase γ and disease: what we have learned from yeast.
Lodi T, Dallabona C, Nolli C, Goffrini P, Donnini C, Baruffini E. Lodi T, et al. Among authors: baruffini e. Front Genet. 2015 Mar 17;6:106. doi: 10.3389/fgene.2015.00106. eCollection 2015. Front Genet. 2015. PMID: 25852747 Free PMC article. Review.
Efficient clofilium tosylate-mediated rescue of POLG-related disease phenotypes in zebrafish.
Facchinello N, Laquatra C, Locatello L, Beffagna G, Brañas Casas R, Fornetto C, Dinarello A, Martorano L, Vettori A, Risato G, Celeghin R, Meneghetti G, Santoro MM, Delahodde A, Vanzi F, Rasola A, Dalla Valle L, Rasotto MB, Lodi T, Baruffini E, Argenton F, Tiso N. Facchinello N, et al. Among authors: baruffini e. Cell Death Dis. 2021 Jan 19;12(1):100. doi: 10.1038/s41419-020-03359-z. Cell Death Dis. 2021. PMID: 33469036 Free PMC article.
Mitochondrial PITRM1 peptidase loss-of-function in childhood cerebellar atrophy.
Langer Y, Aran A, Gulsuner S, Abu Libdeh B, Renbaum P, Brunetti D, Teixeira PF, Walsh T, Zeligson S, Ruotolo R, Beeri R, Dweikat I, Shahrour M, Weinberg-Shukron A, Zahdeh F, Baruffini E, Glaser E, King MC, Levy-Lahad E, Zeviani M, Segel R. Langer Y, et al. Among authors: baruffini e. J Med Genet. 2018 Sep;55(9):599-606. doi: 10.1136/jmedgenet-2018-105330. Epub 2018 May 15. J Med Genet. 2018. PMID: 29764912 Free article.
55 results