Carelli V - Search Results

1

Case Report: A Novel Mutation in the Mitochondrial MT-ND5 Gene Is Associated With Leber Hereditary Optic Neuropathy (LHON).

Engvall M, Kawasaki A, Carelli V, Wibom R, Bruhn H, Lesko N, Schober FA, Wredenberg A, Wedell A, Träisk F. Engvall M, et al. Among authors: carelli v. Front Neurol. 2021 Mar 25;12:652590. doi: 10.3389/fneur.2021.652590. eCollection 2021. Front Neurol. 2021. PMID: 33841319 Free PMC article.

2

Leber's hereditary optic neuropathy: biochemical effect of 11778/ND4 and 3460/ND1 mutations and correlation with the mitochondrial genotype.

Carelli V, Ghelli A, Ratta M, Bacchilega E, Sangiorgi S, Mancini R, Leuzzi V, Cortelli P, Montagna P, Lugaresi E, Degli Esposti M. Carelli V, et al. Neurology. 1997 Jun;48(6):1623-32. doi: 10.1212/wnl.48.6.1623. Neurology. 1997. PMID: 9191778

3

Biochemical features of mtDNA 14484 (ND6/M64V) point mutation associated with Leber's hereditary optic neuropathy.

Carelli V, Ghelli A, Bucchi L, Montagna P, De Negri A, Leuzzi V, Carducci C, Lenaz G, Lugaresi E, Degli Esposti M. Carelli V, et al. Ann Neurol. 1999 Mar;45(3):320-8. Ann Neurol. 1999. PMID: 10072046

4

Mitochondrial DNA nucleotide changes C14482G and C14482A in the ND6 gene are pathogenic for Leber's hereditary optic neuropathy.

Valentino ML, Avoni P, Barboni P, Pallotti F, Rengo C, Torroni A, Bellan M, Baruzzi A, Carelli V. Valentino ML, et al. Among authors: carelli v. Ann Neurol. 2002 Jun;51(6):774-8. doi: 10.1002/ana.10193. Ann Neurol. 2002. PMID: 12112086

5

The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathy.

Valentino ML, Barboni P, Ghelli A, Bucchi L, Rengo C, Achilli A, Torroni A, Lugaresi A, Lodi R, Barbiroli B, Dotti M, Federico A, Baruzzi A, Carelli V. Valentino ML, et al. Among authors: carelli v. Ann Neurol. 2004 Nov;56(5):631-41. doi: 10.1002/ana.20236. Ann Neurol. 2004. PMID: 15505787

6

Severe impairment of complex I-driven adenosine triphosphate synthesis in leber hereditary optic neuropathy cybrids.

Baracca A, Solaini G, Sgarbi G, Lenaz G, Baruzzi A, Schapira AH, Martinuzzi A, Carelli V. Baracca A, et al. Among authors: carelli v. Arch Neurol. 2005 May;62(5):730-6. doi: 10.1001/archneur.62.5.730. Arch Neurol. 2005. PMID: 15883259

7

Rare mtDNA variants in Leber hereditary optic neuropathy families with recurrence of myoclonus.

La Morgia C, Achilli A, Iommarini L, Barboni P, Pala M, Olivieri A, Zanna C, Vidoni S, Tonon C, Lodi R, Vetrugno R, Mostacci B, Liguori R, Carroccia R, Montagna P, Rugolo M, Torroni A, Carelli V. La Morgia C, et al. Among authors: carelli v. Neurology. 2008 Mar 4;70(10):762-70. doi: 10.1212/01.wnl.0000295505.74234.d0. Epub 2008 Jan 23. Neurology. 2008. PMID: 18216301

8

Leber's Hereditary Optic Neuropathy.

Sadun AA, La Morgia C, Carelli V. Sadun AA, et al. Among authors: carelli v. Curr Treat Options Neurol. 2011 Feb;13(1):109-17. doi: 10.1007/s11940-010-0100-y. Curr Treat Options Neurol. 2011. PMID: 21063922

9

Secondary post-geniculate involvement in Leber's hereditary optic neuropathy.

Rizzo G, Tozer KR, Tonon C, Manners D, Testa C, Malucelli E, Valentino ML, La Morgia C, Barboni P, Randhawa RS, Ross-Cisneros FN, Sadun AA, Carelli V, Lodi R. Rizzo G, et al. Among authors: carelli v. PLoS One. 2012;7(11):e50230. doi: 10.1371/journal.pone.0050230. Epub 2012 Nov 27. PLoS One. 2012. PMID: 23209682 Free PMC article.

10

Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions.

La Morgia C, Caporali L, Gandini F, Olivieri A, Toni F, Nassetti S, Brunetto D, Stipa C, Scaduto C, Parmeggiani A, Tonon C, Lodi R, Torroni A, Carelli V. La Morgia C, et al. Among authors: carelli v. BMC Neurol. 2014 May 28;14:116. doi: 10.1186/1471-2377-14-116. BMC Neurol. 2014. PMID: 24884847 Free PMC article.

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