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

Year Number of Results
2006 1
2007 1
2009 1
2011 3
2012 1
2013 1
2014 5
2015 3
2016 5
2017 1
2018 5
2019 2
2020 2
2021 4
2023 2
2024 0

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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. Among authors: metodiev md. 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.
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: metodiev md. Brain. 2023 May 2;146(5):1804-1811. doi: 10.1093/brain/awac417. Brain. 2023. PMID: 36349561
Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation.
Drecourt A, Babdor J, Dussiot M, Petit F, Goudin N, Garfa-Traoré M, Habarou F, Bole-Feysot C, Nitschké P, Ottolenghi C, Metodiev MD, Serre V, Desguerre I, Boddaert N, Hermine O, Munnich A, Rötig A. Drecourt A, et al. Among authors: metodiev md. Am J Hum Genet. 2018 Feb 1;102(2):266-277. doi: 10.1016/j.ajhg.2018.01.003. Am J Hum Genet. 2018. PMID: 29395073 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: metodiev md. Hum Mutat. 2020 Feb;41(2):397-402. doi: 10.1002/humu.23937. Epub 2019 Nov 11. Hum Mutat. 2020. PMID: 31680380
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: metodiev md. 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 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: metodiev md. PLoS Genet. 2013;9(1):e1003178. doi: 10.1371/journal.pgen.1003178. Epub 2013 Jan 3. PLoS Genet. 2013. PMID: 23300484 Free PMC article.
31 results