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    Results: 1 to 20 of 136

    1.

    Complex I respiratory defect in LHON plus dystonia with no mitochondrial DNA mutation.

    Abu-Amero KK, Bosley TM, Bohlega S, McLean D.

    Br J Ophthalmol. 2005 Oct;89(10):1380-1. No abstract available. PMID: 16170145 [PubMed - indexed for MEDLINE]Related articlesFree article

    2.

    The role of the ND5 gene in LHON: characterization of a new, heteroplasmic LHON mutation.

    Mayorov V, Biousse V, Newman NJ, Brown MD.

    Ann Neurol. 2005 Nov;58(5):807-11.PMID: 16240359 [PubMed - indexed for MEDLINE]Related articles

    3.

    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.

    Arch Neurol. 2005 May;62(5):730-6.PMID: 15883259 [PubMed - indexed for MEDLINE]Related articlesFree article

    4.

    [LHON (Leber's hereditary optic neuropathy)]

    Mashima Y.

    Nippon Rinsho. 2002 Apr;60 Suppl 4:282-6. Review. Japanese. No abstract available. PMID: 12013866 [PubMed - indexed for MEDLINE]Related articles

    5.

    A MELAS-associated ND1 mutation causing leber hereditary optic neuropathy and spastic dystonia.

    Spruijt L, Smeets HJ, Hendrickx A, Bettink-Remeijer MW, Maat-Kievit A, Schoonderwoerd KC, Sluiter W, de Coo IF, Hintzen RQ.

    Arch Neurol. 2007 Jun;64(6):890-3.PMID: 17562939 [PubMed - indexed for MEDLINE]Related articlesFree article

    6.

    Complete mitochondrial DNA sequence analysis in a family with early-onset dystonia and optic atrophy.

    Brown MD, Hosseini S, Steiner I, Wallace DC, Korn-Lubetzki I.

    Mov Disord. 2004 Feb;19(2):235-7.PMID: 14978686 [PubMed - indexed for MEDLINE]Related articles

    7.

    Mitochondrial optic neuropathies: how two genomes may kill the same cell type?

    Carelli V, La Morgia C, Iommarini L, Carroccia R, Mattiazzi M, Sangiorgi S, Farne' S, Maresca A, Foscarini B, Lanzi L, Amadori M, Bellan M, Valentino ML.

    Biosci Rep. 2007 Jun;27(1-3):173-84. Review.PMID: 17479363 [PubMed - indexed for MEDLINE]Related articles

    8.

    [Penetrance of Leber hereditary optic neuropathy individuals with mitochondrial DNA 11778 mutation in the Shanxi area]

    Zheng ML, Zhang GL, Hua AL, Zhang YL.

    Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004 Apr;21(2):166-7. Chinese. PMID: 15079802 [PubMed - indexed for MEDLINE]Related articles

    9.

    Late-onset encephalopathy associated with a C11777A mutation of mitochondrial DNA.

    Deschauer M, Bamberg C, Claus D, Zierz S, Turnbull DM, Taylor RW.

    Neurology. 2003 Apr 22;60(8):1357-9.PMID: 12707444 [PubMed - indexed for MEDLINE]Related articles

    10.

    LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation.

    Blakely EL, de Silva R, King A, Schwarzer V, Harrower T, Dawidek G, Turnbull DM, Taylor RW.

    Eur J Hum Genet. 2005 May;13(5):623-7.PMID: 15657614 [PubMed - indexed for MEDLINE]Related articlesFree article

    11.

    The NDUFB11 gene is not a modifier in Leber hereditary optic neuropathy.

    Petruzzella V, Tessa A, Torraco A, Fattori F, Dotti MT, Bruno C, Cardaioli E, Papa S, Federico A, Santorelli FM.

    Biochem Biophys Res Commun. 2007 Mar 30;355(1):181-7. Epub 2007 Feb 2.PMID: 17292333 [PubMed - indexed for MEDLINE]Related articles

    12.

    Leber hereditary optic neuropathy mutations in the ND6 subunit of mitochondrial complex I affect ubiquinone reduction kinetics in a bacterial model of the enzyme.

    Pätsi J, Kervinen M, Finel M, Hassinen IE.

    Biochem J. 2008 Jan 1;409(1):129-37.PMID: 17894548 [PubMed - indexed for MEDLINE]Related articlesFree article

    13.

    Bioenergetics shapes cellular death pathways in Leber's hereditary optic neuropathy: a model of mitochondrial neurodegeneration.

    Carelli V, Rugolo M, Sgarbi G, Ghelli A, Zanna C, Baracca A, Lenaz G, Napoli E, Martinuzzi A, Solaini G.

    Biochim Biophys Acta. 2004 Jul 23;1658(1-2):172-9. Review.PMID: 15282189 [PubMed - indexed for MEDLINE]Related articles

    14.

    LHON and other optic nerve atrophies: the mitochondrial connection.

    Howell N.

    Dev Ophthalmol. 2003;37:94-108. Review.PMID: 12876832 [PubMed - indexed for MEDLINE]Related articles

    15.

    Clinical variability in maternally inherited leber hereditary optic neuropathy with the G14459A mutation.

    Tarnopolsky MA, Baker SK, Myint T, Maxner CE, Robitaille J, Robinson BH.

    Am J Med Genet A. 2004 Feb 1;124A(4):372-6.PMID: 14735584 [PubMed - indexed for MEDLINE]Related articles

    16.

    Reassessment of the pathologic significance of the 9438 mitochondrial DNA mutation associated with LHON.

    Abu-Amero KK, Bosley TM.

    Ophthalmic Genet. 2007 Dec;28(4):229-30. No abstract available. PMID: 18161625 [PubMed - indexed for MEDLINE]Related articles

    17.

    Influence of mutation type on clinical expression of Leber hereditary optic neuropathy.

    Spruijt L, Kolbach DN, de Coo RF, Plomp AS, Bauer NJ, Smeets HJ, de Die-Smulders CE.

    Am J Ophthalmol. 2006 Apr;141(4):676-82.PMID: 16564802 [PubMed - indexed for MEDLINE]Related articles

    18.

    [Optic atrophy/dystonia]

    Ishii A, Ohkoshi N.

    Ryoikibetsu Shokogun Shirizu. 2001;(36):203-8. Review. Japanese. No abstract available. PMID: 11596371 [PubMed - indexed for MEDLINE]Related articles

    19.

    Mitochondrial DNA haplogroup distribution in pedigrees of Southeast Asian G11778A Leber hereditary optic neuropathy.

    Tharaphan P, Chuenkongkaew WL, Luangtrakool K, Sanpachudayan T, Suktitipat B, Suphavilai R, Srisawat C, Sura T, Lertrit P.

    J Neuroophthalmol. 2006 Dec;26(4):264-7.PMID: 17204919 [PubMed - indexed for MEDLINE]Related articles

    20.

    Leber hereditary optic neuropathy mtDNA mutations disrupt glutamate transport in cybrid cell lines.

    Beretta S, Mattavelli L, Sala G, Tremolizzo L, Schapira AH, Martinuzzi A, Carelli V, Ferrarese C.

    Brain. 2004 Oct;127(Pt 10):2183-92. Epub 2004 Sep 1.PMID: 15342361 [PubMed - indexed for MEDLINE]Related articlesFree article

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