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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
2022 0
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49 results
Results by year
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Page 1
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.
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.
In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration.
Hytönen MK, Sarviaho R, Jackson CB, Syrjä P, Jokinen T, Matiasek K, Rosati M, Dallabona C, Baruffini E, Quintero I, Arumilli M, Monteuuis G, Donner J, Anttila M, Suomalainen A, Bindoff LA, Lohi H. Hytönen MK, et al. Among authors: baruffini e. Hum Genet. 2021 Nov;140(11):1593-1609. doi: 10.1007/s00439-021-02279-y. Epub 2021 Apr 9. Hum Genet. 2021. PMID: 33835239 Free PMC article.
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: baruffini e. 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.
49 results