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203 related items for PubMed ID: 11931086

  • 1. A mutational hot spot in the mitochondrial ND6 gene in patients with Leber's hereditary optic neuropathy.
    Luberichs J, Leo-Kottler B, Besch D, Fauser S.
    Graefes Arch Clin Exp Ophthalmol; 2002 Feb; 240(2):96-100. PubMed ID: 11931086
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  • 2. Confirmation of the 14568 mutation in the mitochondrial ND6 gene as causative in Leber's hereditary optic neuropathy.
    Fauser S, Leo-Kottler B, Besch D, Luberichs J.
    Ophthalmic Genet; 2002 Sep; 23(3):191-7. PubMed ID: 12324878
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  • 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.
    Ann Neurol; 2002 Jun; 51(6):774-8. PubMed ID: 12112086
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  • 5. Frequency and spectrum of mitochondrial ND6 mutations in 1218 Han Chinese subjects with Leber's hereditary optic neuropathy.
    Liang M, Jiang P, Li F, Zhang J, Ji Y, He Y, Xu M, Zhu J, Meng X, Zhao F, Tong Y, Liu X, Sun Y, Zhou X, Mo JQ, Qu J, Guan MX.
    Invest Ophthalmol Vis Sci; 2014 Mar 06; 55(3):1321-31. PubMed ID: 24398099
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  • 6. Leber's hereditary optic neuropathy: clinical and molecular genetic results in a patient with a point mutation at np T11253C (isoleucine to threonine) in the ND4 gene and spontaneous recovery.
    Leo-Kottler B, Luberichs J, Besch D, Christ-Adler M, Fauser S.
    Graefes Arch Clin Exp Ophthalmol; 2002 Sep 06; 240(9):758-64. PubMed ID: 12271374
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  • 7. Leber's hereditary optic neuropathy: clinical and molecular genetic findings in a patient with a new mutation in the ND6 gene.
    Besch D, Leo-Kottler B, Zrenner E, Wissinger B.
    Graefes Arch Clin Exp Ophthalmol; 1999 Sep 06; 237(9):745-52. PubMed ID: 10447650
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  • 8. Sequence analysis of the complete mitochondrial genome in patients with Leber's hereditary optic neuropathy lacking the three most common pathogenic DNA mutations.
    Fauser S, Luberichs J, Besch D, Leo-Kottler B.
    Biochem Biophys Res Commun; 2002 Jul 12; 295(2):342-7. PubMed ID: 12150954
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  • 10. 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.
    Ann Neurol; 2004 Nov 12; 56(5):631-41. PubMed ID: 15505787
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  • 12. Prevalence of Mitochondrial ND4 Mutations in 1281 Han Chinese Subjects With Leber's Hereditary Optic Neuropathy.
    Jiang P, Liang M, Zhang J, Gao Y, He Z, Yu H, Zhao F, Ji Y, Liu X, Zhang M, Fu Q, Tong Y, Sun Y, Zhou X, Huang T, Qu J, Guan MX.
    Invest Ophthalmol Vis Sci; 2015 Jul 12; 56(8):4778-88. PubMed ID: 26218905
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  • 13. Leber's Hereditary Optic Neuropathy as a Promising Disease for Gene Therapy Development.
    Karaarslan C.
    Adv Ther; 2019 Dec 12; 36(12):3299-3307. PubMed ID: 31605306
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  • 17. The exome sequencing identified the mutation in YARS2 encoding the mitochondrial tyrosyl-tRNA synthetase as a nuclear modifier for the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation.
    Jiang P, Jin X, Peng Y, Wang M, Liu H, Liu X, Zhang Z, Ji Y, Zhang J, Liang M, Zhao F, Sun YH, Zhang M, Zhou X, Chen Y, Mo JQ, Huang T, Qu J, Guan MX.
    Hum Mol Genet; 2016 Feb 01; 25(3):584-96. PubMed ID: 26647310
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  • 18. Leber's hereditary optic neuropathy: clinical and molecular genetic results obtained in a family with a new point mutation at nucleotide position 14498 in the ND 6 gene.
    Leo-Kottler B, Christ-Adler M, Baumann B, Zrenner E, Wissinger B.
    Ger J Ophthalmol; 1996 Jul 01; 5(4):233-40. PubMed ID: 8854108
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  • 19. T14484C and T14502C in the mitochondrial ND6 gene are associated with Leber's hereditary optic neuropathy in a Chinese family.
    Zhang S, Wang L, Hao Y, Wang P, Hao P, Yin K, Wang QK, Liu M.
    Mitochondrion; 2008 Jun 01; 8(3):205-10. PubMed ID: 18440284
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  • 20. Leber's hereditary optic neuropathy with the 3434, 9011 mitochondrial DNA point mutation.
    Shidara K, Wakakura M.
    Jpn J Ophthalmol; 2012 Mar 01; 56(2):175-80. PubMed ID: 22183138
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