Lamperti C - Search Results

1

ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy.

Caporali L, Magri S, Legati A, Del Dotto V, Tagliavini F, Balistreri F, Nasca A, La Morgia C, Carbonelli M, Valentino ML, Lamantea E, Baratta S, Schöls L, Schüle R, Barboni P, Cascavilla ML, Maresca A, Capristo M, Ardissone A, Pareyson D, Cammarata G, Melzi L, Zeviani M, Peverelli L, Lamperti C, Marzoli SB, Fang M, Synofzik M, Ghezzi D, Carelli V, Taroni F. Caporali L, et al. Among authors: lamperti c. Ann Neurol. 2020 Jul;88(1):18-32. doi: 10.1002/ana.25723. Epub 2020 Apr 21. Ann Neurol. 2020. PMID: 32219868 Free PMC article.

2

Mutated mitofusin 2 presents with intrafamilial variability and brain mitochondrial dysfunction.

Del Bo R, Moggio M, Rango M, Bonato S, D'Angelo MG, Ghezzi S, Airoldi G, Bassi MT, Guglieri M, Napoli L, Lamperti C, Corti S, Federico A, Bresolin N, Comi GP. Del Bo R, et al. Among authors: lamperti c. Neurology. 2008 Dec 9;71(24):1959-66. doi: 10.1212/01.wnl.0000327095.32005.a4. Epub 2008 Oct 22. Neurology. 2008. PMID: 18946002

3

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.

4

Multi-system neurological disease is common in patients with OPA1 mutations.

Yu-Wai-Man P, Griffiths PG, Gorman GS, Lourenco CM, Wright AF, Auer-Grumbach M, Toscano A, Musumeci O, Valentino ML, Caporali L, Lamperti C, Tallaksen CM, Duffey P, Miller J, Whittaker RG, Baker MR, Jackson MJ, Clarke MP, Dhillon B, Czermin B, Stewart JD, Hudson G, Reynier P, Bonneau D, Marques W Jr, Lenaers G, McFarland R, Taylor RW, Turnbull DM, Votruba M, Zeviani M, Carelli V, Bindoff LA, Horvath R, Amati-Bonneau P, Chinnery PF. Yu-Wai-Man P, et al. Among authors: lamperti c. Brain. 2010 Mar;133(Pt 3):771-86. doi: 10.1093/brain/awq007. Epub 2010 Feb 15. Brain. 2010. PMID: 20157015 Free PMC article.

5

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.

6

Mitochondrial respiratory chain dysfunction in muscle from patients with amyotrophic lateral sclerosis.

Crugnola V, Lamperti C, Lucchini V, Ronchi D, Peverelli L, Prelle A, Sciacco M, Bordoni A, Fassone E, Fortunato F, Corti S, Silani V, Bresolin N, Di Mauro S, Comi GP, Moggio M. Crugnola V, et al. Among authors: lamperti c. Arch Neurol. 2010 Jul;67(7):849-54. doi: 10.1001/archneurol.2010.128. Arch Neurol. 2010. PMID: 20625092

7

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

8

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

9

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.

10

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

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