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

Year Number of Results
2002 1
2005 1
2007 1
2010 1
2011 3
2012 1
2013 4
2014 4
2016 3
2017 2
2018 4
2019 3
2020 2
2021 4
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31 results
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Page 1
Mouse models for mitochondrial diseases.
Ruzzenente B, Rötig A, Metodiev MD. Ruzzenente B, et al. Hum Mol Genet. 2016 Oct 1;25(R2):R115-R122. doi: 10.1093/hmg/ddw176. Epub 2016 Jun 21. Hum Mol Genet. 2016. PMID: 27329762 Review.
Biallelic <i>IARS2</i> mutations presenting as sideroblastic anemia.
Barcia G, Pandithan D, Ruzzenente B, Assouline Z, Pennisi A, Ormieres C, Besmond C, Roux CJ, Boddaert N, Desguerre I, Thorburn DR, Bratkovic D, Munnich A, Bonnefont JP, Rötig A, Steffann J. Barcia G, et al. Among authors: ruzzenente b. Haematologica. 2021 Apr 1;106(4):1220-1225. doi: 10.3324/haematol.2020.270710. Haematologica. 2021. PMID: 33327715 Free PMC article.
LRPPRC-mediated folding of the mitochondrial transcriptome.
Siira SJ, Spåhr H, Shearwood AJ, Ruzzenente B, Larsson NG, Rackham O, Filipovska A. Siira SJ, et al. Among authors: ruzzenente b. Nat Commun. 2017 Nov 16;8(1):1532. doi: 10.1038/s41467-017-01221-z. Nat Commun. 2017. PMID: 29146908 Free PMC article.
Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival.
Barcia G, Rio M, Assouline Z, Zangarelli C, Roux CJ, de Lonlay P, Steffann J, Desguerre I, Munnich A, Bonnefont JP, Boddaert N, Rötig A, Metodiev MD, Ruzzenente B. Barcia G, et al. Among authors: ruzzenente b. Eur J Hum Genet. 2021 Mar;29(3):533-538. doi: 10.1038/s41431-020-00757-x. Epub 2020 Nov 9. Eur J Hum Genet. 2021. PMID: 33168986
Mitochondrial fusion is required for regulation of mitochondrial DNA replication.
Silva Ramos E, Motori E, Brüser C, Kühl I, Yeroslaviz A, Ruzzenente B, Kauppila JHK, Busch JD, Hultenby K, Habermann BH, Jakobs S, Larsson NG, Mourier A. Silva Ramos E, et al. Among authors: ruzzenente b. PLoS Genet. 2019 Jun 6;15(6):e1008085. doi: 10.1371/journal.pgen.1008085. eCollection 2019 Jun. PLoS Genet. 2019. PMID: 31170154 Free PMC article.
Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutations.
Barcia G, Rio M, Assouline Z, Zangarelli C, Gueguen N, Dumas VD, Marcorelles P, Schiff M, Slama A, Barth M, Hully M, de Lonlay P, Munnich A, Desguerre I, Bonnefont JP, Steffann J, Procaccio V, Boddaert N, Rötig A, Metodiev MD, Ruzzenente B. Barcia G, et al. Among authors: ruzzenente b. Hum Mutat. 2020 Feb;41(2):397-402. doi: 10.1002/humu.23937. Epub 2019 Nov 11. Hum Mutat. 2020. PMID: 31680380
POLRMT does not transcribe nuclear genes.
Kühl I, Kukat C, Ruzzenente B, Milenkovic D, Mourier A, Miranda M, Koolmeister C, Falkenberg M, Larsson NG. Kühl I, et al. Among authors: ruzzenente b. Nature. 2014 Oct 9;514(7521):E7-11. doi: 10.1038/nature13690. Nature. 2014. PMID: 25297440 No abstract available.
CLPP coordinates mitoribosomal assembly through the regulation of ERAL1 levels.
Szczepanowska K, Maiti P, Kukat A, Hofsetz E, Nolte H, Senft K, Becker C, Ruzzenente B, Hornig-Do HT, Wibom R, Wiesner RJ, Krüger M, Trifunovic A. Szczepanowska K, et al. Among authors: ruzzenente b. EMBO J. 2016 Dec 1;35(23):2566-2583. doi: 10.15252/embj.201694253. Epub 2016 Oct 20. EMBO J. 2016. PMID: 27797820 Free PMC article.
Loss of LRPPRC causes ATP synthase deficiency.
Mourier A, Ruzzenente B, Brandt T, Kühlbrandt W, Larsson NG. Mourier A, et al. Among authors: ruzzenente b. Hum Mol Genet. 2014 May 15;23(10):2580-92. doi: 10.1093/hmg/ddt652. Epub 2014 Jan 6. Hum Mol Genet. 2014. PMID: 24399447 Free PMC article.
MTERF3 regulates mitochondrial ribosome biogenesis in invertebrates and mammals.
Wredenberg A, Lagouge M, Bratic A, Metodiev MD, Spåhr H, Mourier A, Freyer C, Ruzzenente B, Tain L, Grönke S, Baggio F, Kukat C, Kremmer E, Wibom R, Polosa PL, Habermann B, Partridge L, Park CB, Larsson NG. Wredenberg A, et al. Among authors: ruzzenente b. PLoS Genet. 2013;9(1):e1003178. doi: 10.1371/journal.pgen.1003178. Epub 2013 Jan 3. PLoS Genet. 2013. PMID: 23300484 Free PMC article.
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