1: |
Ghelli A, Porcelli AM, Zanna C, Martinuzzi A, Carelli V, Rugolo M.
Protection against Oxidant-Induced Apoptosis by Exogenous Glutathione
in Leber Hereditary Optic Neuropathy Cybrids.
Invest Ophthalmol Vis Sci. 2008 Feb;49(2):671-6.
PMID: 18235013 [PubMed - in process]
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2: |
OPA1 mutations associated with dominant optic atrophy impair oxidative
phosphorylation and mitochondrial fusion.
Brain.
2008 Feb;131(Pt 2):352-67.
PMID: 18222991 [PubMed - in process]
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3: |
Rare mtDNA variants in Leber hereditary optic neuropathy families with
recurrence of myoclonus.
Neurology. 2008 Jan
23; [Epub ahead of print]
PMID: 18216301 [PubMed - as supplied by publisher]
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4: |
Hudson G, Carelli V, Horvath R, Zeviani M, Smeets HJ, Chinnery PF.
X-Inactivation patterns in females harboring mtDNA mutations that
cause Leber hereditary optic neuropathy.
Mol Vis.
2007 Dec 21;13:2339-43.
PMID: 18199976 [PubMed - in process]
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5: |
Amati-Bonneau P, Valentino ML, Reynier P, Gallardo ME, Bornstein B,
Boissière A, Campos Y, Rivera H, de la Aleja JG, Carroccia R, Iommarini L,
Labauge P, Figarella-Branger D, Marcorelles P, Furby A, Beauvais K,
Letournel F, Liguori R, La Morgia C, Montagna P, Liguori M, Zanna C,
Rugolo M, Cossarizza A, Wissinger B, Verny C, Schwarzenbacher R, Martín
MA, Arenas J, Ayuso C, Garesse R, Lenaers G, Bonneau D, Carelli V.
OPA1 mutations induce mitochondrial DNA instability and optic atrophy
'plus' phenotypes.
Brain.
2008 Feb;131(Pt 2):338-51.
Epub 2007 Dec 24.
PMID: 18158317 [PubMed - in process]
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6: |
D'Aguanno S, Barassi A, Lupisella S, d'eril GM, Del Boccio P, Pieragostino
D, Pallotti F, Carelli V, Valentino ML, Liguori R, Avoni P, Bernardini S,
Gambi D, Urbani A, Federici G.
Differential cerebro spinal fluid proteome investigation of Leber
hereditary optic neuropathy (LHON) and multiple sclerosis.
J
Neuroimmunol. 2008 Jan;193(1-2):156-60.
Epub 2007 Dec 3.
PMID: 18061280 [PubMed - in process]
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7: |
Zeviani M, Carelli V.
Mitochondrial disorders.
Curr
Opin Neurol. 2007 Oct;20(5):564-71.
Review.
PMID: 17885446 [PubMed - indexed for MEDLINE]
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8: |
Hudson G, Carelli V, Spruijt L, Gerards M, Mowbray C, Achilli A, Pyle A,
Elson J, Howell N, La Morgia C, Valentino ML, Huoponen K, Savontaus ML,
Nikoskelainen E, Sadun AA, Salomao SR, Belfort R Jr, Griffiths P, Man PY,
de Coo RF, Horvath R, Zeviani M, Smeets HJ, Torroni A, Chinnery PF.
Clinical expression of Leber hereditary optic neuropathy is affected
by the mitochondrial DNA-haplogroup background.
Am J Hum Genet. 2007 Aug;81(2):228-33.
Epub 2007 Jun 4.
PMID: 17668373 [PubMed - indexed for MEDLINE]
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9: |
Genasetti A, Valentino ML, Carelli V, Vigetti D, Viola M, Karousou EG,
Melzi d'Eril GV, De Luca G, Passi A, Pallotti F.
Assessing heteroplasmic load in Leber's hereditary optic neuropathy
mutation 3460G->A/MT-ND1 with a real-time PCR quantitative approach.
J Mol Diagn. 2007 Sep;9(4):538-45.
Epub 2007 Jul 25.
PMID: 17652639 [PubMed - indexed for MEDLINE]
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10: |
Valentino ML, Martí R, Tadesse S, López LC, Manes JL, Lyzak J, Hahn A,
Carelli V, Hirano M.
Thymidine and deoxyuridine accumulate in tissues of patients with
mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
FEBS Lett. 2007
Jul 24;581(18):3410-4.
Epub 2007 Jun 27.
PMID: 17612528 [PubMed - indexed for MEDLINE]
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11: |
Biochemical phenotypes associated with the mitochondrial ATP6 gene
mutations at nt8993.
Biochim Biophys Acta. 2007 Jul;1767(7):913-9.
Epub 2007 May 18.
PMID: 17568559 [PubMed - indexed for MEDLINE]
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12: |
Gasparre G, Porcelli AM, Bonora E, Pennisi LF, Toller M, Iommarini L,
Ghelli A, Moretti M, Betts CM, Martinelli GN, Ceroni AR, Curcio F, Carelli
V, Rugolo M, Tallini G, Romeo G.
Disruptive mitochondrial DNA mutations in complex I subunits are
markers of oncocytic phenotype in thyroid tumors.
Proc Natl Acad Sci U S A. 2007 May 22;104(21):9001-6.
Epub 2007 May 15.
PMID: 17517629 [PubMed - indexed for MEDLINE]
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13: |
Mitochondrial optic neuropathies: how two genomes may kill the same
cell type?
Biosci Rep.
2007 Jun;27(1-3):173-84.
Review.
PMID: 17479363 [PubMed - indexed for MEDLINE]
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14: |
Sadun AA, Salomao SR, Berezovsky A, Sadun F, Denegri AM, Quiros PA,
Chicani F, Ventura D, Barboni P, Sherman J, Sutter E, Belfort R Jr,
Carelli V.
Subclinical carriers and conversions in Leber hereditary optic
neuropathy: a prospective psychophysical study.
Trans Am Ophthalmol Soc. 2006;104:51-61.
PMID: 17471325 [PubMed - indexed for MEDLINE]
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15: |
Male prevalence of acquired color vision defects in asymptomatic
carriers of Leber's hereditary optic neuropathy.
Invest Ophthalmol Vis Sci. 2007 May;48(5):2362-70.
PMID: 17460303 [PubMed - indexed for MEDLINE]
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