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Journal Abstract Search

264 related items for PubMed ID: 10894222

  • 61. [Electron transfer complex IV (cytochrome c oxidase) deficiency].
    Nonaka I.
    Ryoikibetsu Shokogun Shirizu; 1998; (19 Pt 2):497-500. PubMed ID: 9645119
    [No Abstract] [Full Text] [Related]

  • 62. [Defects of pyruvate metabolism in cultured lymphoblastoid cells of 20 patients with Leigh syndrome].
    Naito E, Ito M, Yokota I, Saijo T, Matsuda J, Osaka H, Kimura S, Kuroda Y.
    No To Hattatsu; 1996 Nov; 28(6):495-500. PubMed ID: 8940876
    [Abstract] [Full Text] [Related]

  • 63. Leigh syndrome: Resolving the clinical and genetic heterogeneity paves the way for treatment options.
    Gerards M, Sallevelt SC, Smeets HJ.
    Mol Genet Metab; 2016 Mar; 117(3):300-12. PubMed ID: 26725255
    [Abstract] [Full Text] [Related]

  • 64. Progressive myoclonic epilepsy as an adult-onset manifestation of Leigh syndrome due to m.14487T>C.
    Dermaut B, Seneca S, Dom L, Smets K, Ceulemans L, Smet J, De Paepe B, Tousseyn S, Weckhuysen S, Gewillig M, Pals P, Parizel P, De Bleecker JL, Boon P, De Meirleir L, De Jonghe P, Van Coster R, Van Paesschen W, Santens P.
    J Neurol Neurosurg Psychiatry; 2010 Jan; 81(1):90-3. PubMed ID: 20019223
    [Abstract] [Full Text] [Related]

  • 65. Leigh syndrome caused by mitochondrial DNA G13513A mutation: frequency and clinical features in Japan.
    Sudo A, Honzawa S, Nonaka I, Goto YI.
    J Hum Genet; 2004 Jan; 49(2):92-96. PubMed ID: 14730434
    [Abstract] [Full Text] [Related]

  • 66. Adult onset Leigh syndrome with mitochondrial DNA 8344 A>G mutation.
    Han JY, Sung JJ, Park HK, Yoon BN, Lee KW.
    J Clin Neurosci; 2014 Nov; 21(11):2009-11. PubMed ID: 24961732
    [Abstract] [Full Text] [Related]

  • 67. A previously undescribed leukodystrophy in Leigh syndrome associated with T9176C mutation of the mitochondrial ATPase 6 gene.
    Hung PC, Wang HS.
    Dev Med Child Neurol; 2007 Jan; 49(1):65-7. PubMed ID: 17209980
    [Abstract] [Full Text] [Related]

  • 68. Sequence variations in the NDUFA1 gene encoding a subunit of complex I of the respiratory chain.
    Wittig I, Augstein P, Brown GK, Fujii T, Rötig A, Rustin P, Munnich A, Seibel P, Thorburn D, Wissinger B, Tamboom K, Metspalu A, Lamantea E, Zeviani M, Wehnert MS.
    J Inherit Metab Dis; 2001 Feb; 24(1):15-27. PubMed ID: 11286378
    [Abstract] [Full Text] [Related]

  • 69. Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome.
    Bénit P, Slama A, Cartault F, Giurgea I, Chretien D, Lebon S, Marsac C, Munnich A, Rötig A, Rustin P.
    J Med Genet; 2004 Jan; 41(1):14-7. PubMed ID: 14729820
    [Abstract] [Full Text] [Related]

  • 70. Mitochondrial DNA depletion in Leigh syndrome.
    Filiano JJ, Goldenthal MJ, Mamourian AC, Hall CC, Marín-García J.
    Pediatr Neurol; 2002 Mar; 26(3):239-42. PubMed ID: 11955936
    [Abstract] [Full Text] [Related]

  • 71. A patient with congenital hyperlactataemia and Leigh syndrome: an uncommon mitochondrial variant.
    Ching CK, Mak CM, Au KM, Chan KY, Yuen YP, Yau EK, Ma LC, Chow HL, Chan AY.
    Hong Kong Med J; 2013 Aug; 19(4):357-61. PubMed ID: 23918514
    [Abstract] [Full Text] [Related]

  • 72. The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome.
    Carrozzo R, Tessa A, Vázquez-Memije ME, Piemonte F, Patrono C, Malandrini A, Dionisi-Vici C, Vilarinho L, Villanova M, Schägger H, Federico A, Bertini E, Santorelli FM.
    Neurology; 2001 Mar 13; 56(5):687-90. PubMed ID: 11245730
    [Abstract] [Full Text] [Related]

  • 73. Phenotypic differences between T-->C and T-->G mutations at nt 8993 of mitochondrial DNA in Leigh syndrome.
    Fujii T, Hattori H, Higuchi Y, Tsuji M, Mitsuyoshi I.
    Pediatr Neurol; 1998 Mar 13; 18(3):275-7. PubMed ID: 9568930
    [Abstract] [Full Text] [Related]

  • 74. Juvenile parkinsonism, hypogonadism and Leigh-like MRI changes in a patient with m.4296G>A mutation in mitochondrial DNA.
    Martikainen MH, Kytövuori L, Majamaa K.
    Mitochondrion; 2013 Mar 13; 13(2):83-6. PubMed ID: 23395828
    [Abstract] [Full Text] [Related]

  • 75. [Genetic counseling and prenatal diagnosis in mitochondrial diseases].
    Klopstock T, Gasser T.
    Nervenarzt; 1999 Jun 13; 70(6):504-8. PubMed ID: 10412694
    [Abstract] [Full Text] [Related]

  • 76. Genetic heterogeneity in Leigh syndrome.
    DiMauro S, De Vivo DC.
    Ann Neurol; 1996 Jul 13; 40(1):5-7. PubMed ID: 8687192
    [No Abstract] [Full Text] [Related]

  • 77. De novo mtDNA nt 8993 (T-->G) mutation resulting in Leigh syndrome.
    Takahashi S, Makita Y, Oki J, Miyamoto A, Yanagawa J, Naito E, Goto Y, Okuno A.
    Am J Hum Genet; 1998 Mar 13; 62(3):717-9. PubMed ID: 9556461
    [No Abstract] [Full Text] [Related]

  • 78. Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G>A mitochondrial DNA mutation: a case report.
    Ronchi D, Cosi A, Tonduti D, Orcesi S, Bordoni A, Fortunato F, Rizzuti M, Sciacco M, Collotta M, Cagdas S, Capovilla G, Moggio M, Berardinelli A, Veggiotti P, Comi GP.
    BMC Neurol; 2011 Jul 12; 11():85. PubMed ID: 21749722
    [Abstract] [Full Text] [Related]

  • 79. [Metabolic study in a child with Leigh's syndrome and deficient activity in complex I of the respiratory chain].
    Zeman J, Klement P, Houst'ková H, Hrebícek M, Hansíková H, Richterová I, Velenská Z, Houstĕk J.
    Cesk Pediatr; 1993 Oct 12; 48(10):586-9. PubMed ID: 8269530
    [Abstract] [Full Text] [Related]

  • 80. Rostral brain lesions of Leigh syndrome associated with the mitochondrial DNA 8993T>G mutation.
    Iida Y, Fujii K, Mizuochi H, Suwabe S, Wakui A, Uchikawa H, Shimojo N.
    J Neurol Sci; 2016 Apr 15; 363():77-9. PubMed ID: 27000225
    [No Abstract] [Full Text] [Related]

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