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Journal Abstract Search

264 related items for PubMed ID: 10894222

  • 21. SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.
    Carrozzo R, Dionisi-Vici C, Steuerwald U, Lucioli S, Deodato F, Di Giandomenico S, Bertini E, Franke B, Kluijtmans LA, Meschini MC, Rizzo C, Piemonte F, Rodenburg R, Santer R, Santorelli FM, van Rooij A, Vermunt-de Koning D, Morava E, Wevers RA.
    Brain; 2007 Mar; 130(Pt 3):862-74. PubMed ID: 17301081
    [Abstract] [Full Text] [Related]

  • 22. Sequence of mitochondrial DNA in patients with multiple sclerosis.
    Chalmers RM, Robertson N, DAS Compston, Harding AE.
    Ann Neurol; 1996 Aug; 40(2):239-43. PubMed ID: 8773606
    [Abstract] [Full Text] [Related]

  • 23. [A pedigree of Leber's hereditary optic neuropathy with mtDNA 14484 mutation].
    Tong Y, Wang Y, Jiang F, Liu B, Zhang S, Yang W.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2008 Oct; 25(5):531-3. PubMed ID: 18841565
    [Abstract] [Full Text] [Related]

  • 24. [Analysis on the effect of secondary mutations on Leber's hereditary optic neuropathy].
    Wang Y, Tong Y, Hu SX, Wang JY, Shao JB, Zhang HX.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2007 Aug; 24(4):397-400. PubMed ID: 17680528
    [Abstract] [Full Text] [Related]

  • 25. Mitochondrial disorders.
    DiMauro S, Andreu AL, De Vivo DC.
    J Child Neurol; 2002 Dec; 17 Suppl 3():3S35-45; discussion 3S46-7. PubMed ID: 12597054
    [Abstract] [Full Text] [Related]

  • 26. The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency.
    Chol M, Lebon S, Bénit P, Chretien D, de Lonlay P, Goldenberg A, Odent S, Hertz-Pannier L, Vincent-Delorme C, Cormier-Daire V, Rustin P, Rötig A, Munnich A.
    J Med Genet; 2003 Mar; 40(3):188-91. PubMed ID: 12624137
    [Abstract] [Full Text] [Related]

  • 27. Case report: A Thai patient with Leber's hereditary optic neuropathy linked to mitochondrial DNA 14484 mutation.
    Chuenkongkaew W, Lertrit P, Suphavilai R.
    Southeast Asian J Trop Med Public Health; 2004 Mar; 35(1):167-8. PubMed ID: 15272763
    [Abstract] [Full Text] [Related]

  • 28. [Leber's optic neuropathy: a case report].
    Pato-Pato A, Cimas-Hernando I, Lorenzo-González JR.
    Rev Neurol; 2004 Mar; 42(1):22-4. PubMed ID: 16402322
    [Abstract] [Full Text] [Related]

  • 29. 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. PubMed ID: 17562939
    [Abstract] [Full Text] [Related]

  • 30. Atypical presentation of Leber's hereditary optic neuropathy associated to mtDNA 11778G>A point mutation--A case report.
    Grazina MM, Diogo LM, Garcia PC, Silva ED, Garcia TD, Robalo CB, Oliveira CR.
    Eur J Paediatr Neurol; 2007 Mar; 11(2):115-8. PubMed ID: 17254817
    [Abstract] [Full Text] [Related]

  • 31. Prenatal exclusion of Leigh syndrome due to T8993C mutation in the mitochondrial DNA.
    Leshinsky-Silver E, Perach M, Basilevsky E, Hershkovitz E, Yanoov-Sharav M, Lerman-Sagie T, Lev D.
    Prenat Diagn; 2003 Jan; 23(1):31-3. PubMed ID: 12533809
    [Abstract] [Full Text] [Related]

  • 32. Leber's hereditary optic neuropathy is associated with the mitochondrial ND6 T14484C mutation in three Chinese families.
    Sun YH, Wei QP, Zhou X, Qian Y, Zhou J, Lu F, Qu J, Guan MX.
    Biochem Biophys Res Commun; 2006 Aug 18; 347(1):221-5. PubMed ID: 16806060
    [Abstract] [Full Text] [Related]

  • 33. Leber's hereditary optic neuropathy: a multifactorial disease.
    Yen MY, Wang AG, Wei YH.
    Prog Retin Eye Res; 2006 Jul 18; 25(4):381-96. PubMed ID: 16829155
    [Abstract] [Full Text] [Related]

  • 34. Novel mitochondrial mutation in the ND4 gene associated with Leigh syndrome.
    Vanniarajan A, Rajshekher GP, Joshi MB, Reddy AG, Singh L, Thangaraj K.
    Acta Neurol Scand; 2006 Nov 18; 114(5):350-3. PubMed ID: 17022785
    [Abstract] [Full Text] [Related]

  • 35. [Leigh encephalopathy (subacute necrotizing encephalomyelopathy)].
    Sakuta R.
    Ryoikibetsu Shokogun Shirizu; 2001 Nov 18; (36):178-80. PubMed ID: 11596363
    [No Abstract] [Full Text] [Related]

  • 36. Biochemical and genetic analysis of Leigh syndrome patients in Korea.
    Chae JH, Lee JS, Kim KJ, Hwang YS, Hirano M.
    Brain Dev; 2008 Jun 18; 30(6):387-90. PubMed ID: 18155376
    [Abstract] [Full Text] [Related]

  • 37. A new mutation in MT-ND1 m.3928G>C p.V208L causes Leigh disease with infantile spasms.
    Wray CD, Friederich MW, du Sart D, Pantaleo S, Smet J, Kucera C, Fenton L, Scharer G, Van Coster R, Van Hove JL.
    Mitochondrion; 2013 Nov 18; 13(6):656-61. PubMed ID: 24063851
    [Abstract] [Full Text] [Related]

  • 38. Juvenile Leigh syndrome, optic atrophy, ataxia, dystonia, and epilepsy due to T14487C mutation in the mtDNA-ND6 gene: a mitochondrial syndrome presenting from birth to adolescence.
    Leshinsky-Silver E, Shuvalov R, Inbar S, Cohen S, Lev D, Lerman-Sagie T.
    J Child Neurol; 2011 Apr 18; 26(4):476-81. PubMed ID: 21196529
    [Abstract] [Full Text] [Related]

  • 39. Mitochondrial DNA 8993T>G mutation in a child with ornithine transcarbamylase deficiency and leigh syndrome: an unexpected association.
    Henriques M, Diogo L, Garcia P, Pratas J, Simões M, Grazina M.
    J Child Neurol; 2012 Aug 18; 27(8):1059-61. PubMed ID: 22241703
    [Abstract] [Full Text] [Related]

  • 40. Sequence homology of NADH CoQ reductase subunit IV with nucleotide-requiring enzymes.
    Isashiki Y, Ohba N, Uto M, Nakagawa M.
    Jpn J Ophthalmol; 1993 Aug 18; 37(1):39-42. PubMed ID: 8320863
    [Abstract] [Full Text] [Related]

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