These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

318 related items for PubMed ID: 21196529

  • 1. 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; 26(4):476-81. PubMed ID: 21196529
    [Abstract] [Full Text] [Related]

  • 2. Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene.
    Ugalde C, Triepels RH, Coenen MJ, van den Heuvel LP, Smeets R, Uusimaa J, Briones P, Campistol J, Majamaa K, Smeitink JA, Nijtmans LG.
    Ann Neurol; 2003 Nov; 54(5):665-9. PubMed ID: 14595656
    [Abstract] [Full Text] [Related]

  • 3. An mtDNA mutation, 14453G-->A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome.
    Ravn K, Wibrand F, Hansen FJ, Horn N, Rosenberg T, Schwartz M.
    Eur J Hum Genet; 2001 Oct; 9(10):805-9. PubMed ID: 11781695
    [Abstract] [Full Text] [Related]

  • 4. Mutated ND2 impairs mitochondrial complex I assembly and leads to Leigh syndrome.
    Ugalde C, Hinttala R, Timal S, Smeets R, Rodenburg RJ, Uusimaa J, van Heuvel LP, Nijtmans LG, Majamaa K, Smeitink JA.
    Mol Genet Metab; 2007 Jan; 90(1):10-4. PubMed ID: 16996290
    [Abstract] [Full Text] [Related]

  • 5. Leigh-like syndrome with the T8993G mutation in the mitochondrial ATPase 6 gene: long-term follow-up discloses a slowly progressive course.
    Sobreira C, Marques W, Pontes Neto OM, Santos AC, Pina Neto JM, Barreira AA.
    J Neurol Sci; 2009 Mar 15; 278(1-2):132-4. PubMed ID: 19144360
    [Abstract] [Full Text] [Related]

  • 6. [A case of Leigh syndrome associated with respiratory chain complex I deficiency due to mitochondrial gene 13513G>A mutation].
    Wei XQ, Kong QP, Zhang Y, Yang YL, Chang XZ, Qi Y, Qi ZY, Xiao JX, Qin J, Wu XR.
    Zhongguo Dang Dai Er Ke Za Zhi; 2009 May 15; 11(5):333-6. PubMed ID: 19470250
    [Abstract] [Full Text] [Related]

  • 7. [A patient with bilateral lesion in the striatum and slowly progressive dystonia secondary to T14487C mutation in the ND6 gene of complex I of the mitochondrial respiratory chain].
    Raspall-Chaure M, Solano A, Vázquez E, Macaya-Ruiz A, del Toro-Riera M, Cabezuelo-Briones A, Montoya J, Andreu A, Roig-Quilis M.
    Rev Neurol; 2009 May 15; 39(12):1129-32. PubMed ID: 15625630
    [Abstract] [Full Text] [Related]

  • 8. Unusual findings in Leigh syndrome caused by T8993C mutation.
    Yiş U, Seneca S, Dirik E, Kurul SH, Ozer E, Cakmakçi H, De Meirleir L.
    Eur J Paediatr Neurol; 2009 Nov 15; 13(6):550-2. PubMed ID: 19046652
    [Abstract] [Full Text] [Related]

  • 9. Mitochondrial DNA mutations in Leigh syndrome and their phylogenetic implications.
    Makino M, Horai S, Goto Y, Nonaka I.
    J Hum Genet; 2000 Nov 15; 45(2):69-75. PubMed ID: 10721666
    [Abstract] [Full Text] [Related]

  • 10. Two mtDNA mutations 14487T>C (M63V, ND6) and 12297T>C (tRNA Leu) in a Leigh syndrome family.
    Wang J, Brautbar A, Chan AK, Dzwiniel T, Li FY, Waters PJ, Graham BH, Wong LJ.
    Mol Genet Metab; 2009 Feb 15; 96(2):59-65. PubMed ID: 19062322
    [Abstract] [Full Text] [Related]

  • 11.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 12. 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 15; 114(5):350-3. PubMed ID: 17022785
    [Abstract] [Full Text] [Related]

  • 13.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 14.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 15.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 16. 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 15; 81(1):90-3. PubMed ID: 20019223
    [Abstract] [Full Text] [Related]

  • 17.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 18. Optic atrophy and a Leigh-like syndrome due to mutations in the c12orf65 gene: report of a novel mutation and review of the literature.
    Heidary G, Calderwood L, Cox GF, Robson CD, Teot LA, Mullon J, Anselm I.
    J Neuroophthalmol; 2014 Mar 15; 34(1):39-43. PubMed ID: 24284555
    [Abstract] [Full Text] [Related]

  • 19. Severe infantile leigh syndrome associated with a rare mitochondrial ND6 mutation, m.14487T>C.
    Tarnopolsky M, Meaney B, Robinson B, Sheldon K, Boles RG.
    Am J Med Genet A; 2013 Aug 15; 161A(8):2020-3. PubMed ID: 23813926
    [Abstract] [Full Text] [Related]

  • 20. 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 15; 64(6):890-3. PubMed ID: 17562939
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 16.