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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 5
2023 2

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34 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.
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.
Biallelic IARS2 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.
Neuropathological hallmarks of antenatal mitochondrial diseases with a corpus callosum defect.
Boutaud L, Ruzzenente B, Tessier A, Anselem O, Pannier E, Grotto S, Talhi N, Amram D, Willems M, Wells C, Blanchet P, Musizzano Y, Jauny C, Nitschke P, Bole-Feysot C, Bessières B, Salhi H, Achaiaa A, Metodiev MD, Razavi F, Rötig A, Loeuilllet L, Attié-Bitach T. Boutaud L, et al. Among authors: ruzzenente b. Brain. 2023 May 2;146(5):1804-1811. doi: 10.1093/brain/awac417. Brain. 2023. PMID: 36349561
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.
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.
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.
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
Cerebral blood flow and acute episodes of Leigh syndrome in neurometabolic disorders.
Loiselet K, Ruzzenente B, Roux CJ, Barcia G, Pennisi A, Desguerre I, Rötig A, Munnich A, Boddaert N; Paediatric Radiology and Metabolics Group. Loiselet K, et al. Among authors: ruzzenente b. Dev Med Child Neurol. 2021 Jun;63(6):705-711. doi: 10.1111/dmcn.14814. Epub 2021 Jan 28. Dev Med Child Neurol. 2021. PMID: 33511646 Free article.
34 results