Lamperti C - Search Results

1

Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations.

Bugiardini E, Bottani E, Marchet S, Poole OV, Beninca C, Horga A, Woodward C, Lam A, Hargreaves I, Chalasani A, Valerio A, Lamantea E, Venner K, Holton JL, Zeviani M, Houlden H, Quinlivan R, Lamperti C, Hanna MG, Pitceathly RDS. Bugiardini E, et al. Among authors: lamperti c. Neurol Genet. 2020 Jan 7;6(1):e381. doi: 10.1212/NXG.0000000000000381. eCollection 2020 Feb. Neurol Genet. 2020. PMID: 32042910 Free PMC article.

2

Encephalomyopathies caused by abnormal nuclear-mitochondrial intergenomic cross-talk.

Lamperti C, Zeviani M. Lamperti C, et al. Acta Myol. 2009 Jul;28(1):2-11. Acta Myol. 2009. PMID: 19772189 Free PMC article.

3

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: lamperti c. 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.

4

Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy.

Viscomi C, Burlina AB, Dweikat I, Savoiardo M, Lamperti C, Hildebrandt T, Tiranti V, Zeviani M. Viscomi C, et al. Among authors: lamperti c. Nat Med. 2010 Aug;16(8):869-71. doi: 10.1038/nm.2188. Epub 2010 Jul 25. Nat Med. 2010. PMID: 20657580

5

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: lamperti c. Nat Genet. 2011 Mar;43(3):259-63. doi: 10.1038/ng.761. Epub 2011 Jan 30. Nat Genet. 2011. PMID: 21278747

6

In vivo correction of COX deficiency by activation of the AMPK/PGC-1α axis.

Viscomi C, Bottani E, Civiletto G, Cerutti R, Moggio M, Fagiolari G, Schon EA, Lamperti C, Zeviani M. Viscomi C, et al. Among authors: lamperti c. Cell Metab. 2011 Jul 6;14(1):80-90. doi: 10.1016/j.cmet.2011.04.011. Cell Metab. 2011. PMID: 21723506 Free PMC article.

7

Partial tandem duplication of mtDNA-tRNA(Phe) impairs mtDNA translation in late-onset mitochondrial myopathy.

Arzuffi P, Lamperti C, Fernandez-Vizarra E, Tonin P, Morandi L, Zeviani M. Arzuffi P, et al. Among authors: lamperti c. Neuromuscul Disord. 2012 Jan;22(1):50-5. doi: 10.1016/j.nmd.2011.07.009. Epub 2012 Jan 9. Neuromuscul Disord. 2012. PMID: 22227277 Free PMC article.

8

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. 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

9

Effective AAV-mediated gene therapy in a mouse model of ethylmalonic encephalopathy.

Di Meo I, Auricchio A, Lamperti C, Burlina A, Viscomi C, Zeviani M. Di Meo I, et al. Among authors: lamperti c. EMBO Mol Med. 2012 Sep;4(9):1008-14. doi: 10.1002/emmm.201201433. Epub 2012 Aug 20. EMBO Mol Med. 2012. PMID: 22903887 Free PMC article.

10

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. 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.

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