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

Year Number of Results
1985 1
1986 1
1987 1
1988 1
1996 1
1997 2
1998 1
2000 2
2001 1
2002 5
2003 2
2004 3
2005 3
2006 7
2007 10
2008 7
2009 5
2010 7
2011 5
2012 5
2013 8
2014 7
2015 11
2016 4
2017 3
2018 4
2019 2
2020 7
2021 6
2022 10
2023 4
2024 1

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122 results

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Page 1
Mitochondrial diseases in adults.
La Morgia C, Maresca A, Caporali L, Valentino ML, Carelli V. La Morgia C, et al. Among authors: valentino ml. J Intern Med. 2020 Jun;287(6):592-608. doi: 10.1111/joim.13064. J Intern Med. 2020. PMID: 32463135 Free article. Review.
Incomplete penetrance in mitochondrial optic neuropathies.
Caporali L, Maresca A, Capristo M, Del Dotto V, Tagliavini F, Valentino ML, La Morgia C, Carelli V. Caporali L, et al. Among authors: valentino ml. Mitochondrion. 2017 Sep;36:130-137. doi: 10.1016/j.mito.2017.07.004. Epub 2017 Jul 14. Mitochondrion. 2017. PMID: 28716668 Review.
A coordinated multiorgan metabolic response contributes to human mitochondrial myopathy.
Southwell N, Primiano G, Nadkarni V, Attarwala N, Beattie E, Miller D, Alam S, Liparulo I, Shurubor YI, Valentino ML, Carelli V, Servidei S, Gross SS, Manfredi G, Chen Q, D'Aurelio M. Southwell N, et al. Among authors: valentino ml. EMBO Mol Med. 2023 Jul 10;15(7):e16951. doi: 10.15252/emmm.202216951. Epub 2023 May 24. EMBO Mol Med. 2023. PMID: 37222423 Free PMC article.
The Italian reappraisal of the most frequent genetic defects in hereditary optic neuropathies and the global top 10.
Fiorini C, Ormanbekova D, Palombo F, Carbonelli M, Amore G, Romagnoli M, d'Agati P, Valentino ML, Barboni P, Cascavilla ML, De Negri A, Sadun F, Carta A, Testa F, Petruzzella V, Guerriero S, Bianchi Marzoli S, Carelli V, La Morgia C, Caporali L. Fiorini C, et al. Among authors: valentino ml. Brain. 2023 Sep 1;146(9):e67-e70. doi: 10.1093/brain/awad080. Brain. 2023. PMID: 36913248 Free PMC article. No abstract available.
Mammalian RNase H1 directs RNA primer formation for mtDNA replication initiation and is also necessary for mtDNA replication completion.
Misic J, Milenkovic D, Al-Behadili A, Xie X, Jiang M, Jiang S, Filograna R, Koolmeister C, Siira SJ, Jenninger L, Filipovska A, Clausen AR, Caporali L, Valentino ML, La Morgia C, Carelli V, Nicholls TJ, Wredenberg A, Falkenberg M, Larsson NG. Misic J, et al. Among authors: valentino ml. Nucleic Acids Res. 2022 Aug 26;50(15):8749-8766. doi: 10.1093/nar/gkac661. Nucleic Acids Res. 2022. PMID: 35947649 Free PMC article.
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation.
Nashabat M, Nabavizadeh N, Saraçoğlu HP, Sarıbaş B, Avcı Ş, Börklü E, Beillard E, Yılmaz E, Uygur SE, Kayhan CK, Bosco L, Eren ZB, Steindl K, Richter MF, Bademci G, Rauch A, Fattahi Z, Valentino ML, Connolly AM, Bahr A, Viola L, Bergmann AK, Rocha ME, Peart L, Castro-Rojas DL, Bültmann E, Khan S, Giarrana ML, Teleanu RI, Gonzalez JM, Pini A, Schädlich IS, Vill K, Brugger M, Zuchner S, Pinto A, Donkervoort S, Bivona SA, Riza A; Undiagnosed Diseases Network; Streata I, Gläser D, Baquero-Montoya C, Garcia-Restrepo N, Kotzaeridou U, Brunet T, Epure DA, Bertoli-Avella A, Kariminejad A, Tekin M, von Hardenberg S, Bönnemann CG, Stettner GM, Zanni G, Kayserili H, Oflazer ZP, Escande-Beillard N. Nashabat M, et al. Among authors: valentino ml. Nat Commun. 2024 Feb 27;15(1):1758. doi: 10.1038/s41467-024-45933-5. Nat Commun. 2024. PMID: 38413582 Free PMC article.
The optic nerve: a "mito-window" on mitochondrial neurodegeneration.
Maresca A, la Morgia C, Caporali L, Valentino ML, Carelli V. Maresca A, et al. Among authors: valentino ml. Mol Cell Neurosci. 2013 Jul;55(100):62-76. doi: 10.1016/j.mcn.2012.08.004. Epub 2012 Aug 15. Mol Cell Neurosci. 2013. PMID: 22960139 Free PMC article. Review.
Myoclonus in mitochondrial disorders.
Mancuso M, Orsucci D, Angelini C, Bertini E, Catteruccia M, Pegoraro E, Carelli V, Valentino ML, Comi GP, Minetti C, Bruno C, Moggio M, Ienco EC, Mongini T, Vercelli L, Primiano G, Servidei S, Tonin P, Scarpelli M, Toscano A, Musumeci O, Moroni I, Uziel G, Santorelli FM, Nesti C, Filosto M, Lamperti C, Zeviani M, Siciliano G. Mancuso M, et al. Among authors: valentino ml. Mov Disord. 2014 May;29(6):722-8. doi: 10.1002/mds.25839. Epub 2014 Feb 7. Mov Disord. 2014. PMID: 24510442
Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders.
Carelli V, La Morgia C, Valentino ML, Barboni P, Ross-Cisneros FN, Sadun AA. Carelli V, et al. Among authors: valentino ml. Biochim Biophys Acta. 2009 May;1787(5):518-28. doi: 10.1016/j.bbabio.2009.02.024. Epub 2009 Mar 5. Biochim Biophys Acta. 2009. PMID: 19268652 Free article. Review.
122 results