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Assembly factors of human mitochondrial respiratory chain complexes: physiology and pathophysiology.
Ghezzi D, Zeviani M. Ghezzi D, et al. Adv Exp Med Biol. 2012;748:65-106. doi: 10.1007/978-1-4614-3573-0_4. Adv Exp Med Biol. 2012. PMID: 22729855 Review.
FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency.
Ghezzi D, Saada A, D'Adamo P, Fernandez-Vizarra E, Gasparini P, Tiranti V, Elpeleg O, Zeviani M. Ghezzi D, et al. Among authors: d adamo p. Am J Hum Genet. 2008 Sep;83(3):415-23. doi: 10.1016/j.ajhg.2008.08.009. Epub 2008 Sep 4. Am J Hum Genet. 2008. PMID: 18771761 Free PMC article.
Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence.
Ghezzi D, Viscomi C, Ferlini A, Gualandi F, Mereghetti P, DeGrandis D, Zeviani M. Ghezzi D, et al. Hum Mol Genet. 2009 Mar 15;18(6):1058-64. doi: 10.1093/hmg/ddn441. Epub 2009 Jan 5. Hum Mol Genet. 2009. PMID: 19124534
Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor.
Ghezzi D, Sevrioukova I, Invernizzi F, Lamperti C, Mora M, D'Adamo P, Novara F, Zuffardi O, Uziel G, Zeviani M. Ghezzi D, et al. Among authors: d adamo p. Am J Hum Genet. 2010 Apr 9;86(4):639-49. doi: 10.1016/j.ajhg.2010.03.002. Epub 2010 Apr 1. Am J Hum Genet. 2010. PMID: 20362274 Free PMC article.
Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies.
Ghezzi D, Arzuffi P, Zordan M, Da Re C, Lamperti C, Benna C, D'Adamo P, Diodato D, Costa R, Mariotti C, Uziel G, Smiderle C, Zeviani M. Ghezzi D, et al. Among authors: d adamo p. Nat Genet. 2011 Mar;43(3):259-63. doi: 10.1038/ng.761. Epub 2011 Jan 30. Nat Genet. 2011. PMID: 21278747
Infantile mitochondrial encephalopathy.
Uziel G, Ghezzi D, Zeviani M. Uziel G, et al. Among authors: ghezzi d. Semin Fetal Neonatal Med. 2011 Aug;16(4):205-15. doi: 10.1016/j.siny.2011.04.003. Epub 2011 May 26. Semin Fetal Neonatal Med. 2011. PMID: 21620787 Review.
MELAS-like encephalomyopathy caused by a new pathogenic mutation in the mitochondrial DNA encoded cytochrome c oxidase subunit I.
Lamperti C, Diodato D, Lamantea E, Carrara F, Ghezzi D, Mereghetti P, Rizzi R, Zeviani M. Lamperti C, et al. Among authors: ghezzi d. Neuromuscul Disord. 2012 Nov;22(11):990-4. doi: 10.1016/j.nmd.2012.06.003. Epub 2012 Jul 23. Neuromuscul Disord. 2012. PMID: 22832341
A novel homozygous mutation in SUCLA2 gene identified by exome sequencing.
Lamperti C, Fang M, Invernizzi F, Liu X, Wang H, Zhang Q, Carrara F, Moroni I, Zeviani M, Zhang J, Ghezzi D. Lamperti C, et al. Among authors: ghezzi d. Mol Genet Metab. 2012 Nov;107(3):403-8. doi: 10.1016/j.ymgme.2012.08.020. Epub 2012 Sep 7. Mol Genet Metab. 2012. PMID: 23010432 Free PMC article.
MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast.
Baruffini E, Dallabona C, Invernizzi F, Yarham JW, Melchionda L, Blakely EL, Lamantea E, Donnini C, Santra S, Vijayaraghavan S, Roper HP, Burlina A, Kopajtich R, Walther A, Strom TM, Haack TB, Prokisch H, Taylor RW, Ferrero I, Zeviani M, Ghezzi D. Baruffini E, et al. Among authors: ghezzi d. Hum Mutat. 2013 Nov;34(11):1501-9. doi: 10.1002/humu.22393. Epub 2013 Sep 17. Hum Mutat. 2013. PMID: 23929671 Free PMC article.
A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activity.
Invernizzi F, Tigano M, Dallabona C, Donnini C, Ferrero I, Cremonte M, Ghezzi D, Lamperti C, Zeviani M. Invernizzi F, et al. Among authors: ghezzi d. Hum Mutat. 2013 Dec;34(12):1619-22. doi: 10.1002/humu.22441. Epub 2013 Sep 23. Hum Mutat. 2013. PMID: 24014394 Free PMC article.
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