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

131 related items for PubMed ID: 32130224

  • 21.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 22. LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency.
    Debray FG, Morin C, Janvier A, Villeneuve J, Maranda B, Laframboise R, Lacroix J, Decarie JC, Robitaille Y, Lambert M, Robinson BH, Mitchell GA.
    J Med Genet; 2011 Mar; 48(3):183-9. PubMed ID: 21266382
    [Abstract] [Full Text] [Related]

  • 23.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 24. [Cytochrome c oxidase deficiency--SURF1 mutations].
    Naito E, Ogawa Y.
    Nihon Rinsho; 2002 Apr; 60 Suppl 4():446-9. PubMed ID: 12013909
    [No Abstract] [Full Text] [Related]

  • 25. Genetic defects of cytochrome c oxidase assembly.
    Pecina P, Houstková H, Hansíková H, Zeman J, Houstek J.
    Physiol Res; 2004 Apr; 53 Suppl 1():S213-23. PubMed ID: 15119951
    [Abstract] [Full Text] [Related]

  • 26. A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.
    Szklarczyk R, Wanschers BF, Nijtmans LG, Rodenburg RJ, Zschocke J, Dikow N, van den Brand MA, Hendriks-Franssen MG, Gilissen C, Veltman JA, Nooteboom M, Koopman WJ, Willems PH, Smeitink JA, Huynen MA, van den Heuvel LP.
    Hum Mol Genet; 2013 Feb 15; 22(4):656-67. PubMed ID: 23125284
    [Abstract] [Full Text] [Related]

  • 27. Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7.
    Saada A, Edvardson S, Shaag A, Chung WK, Segel R, Miller C, Jalas C, Elpeleg O.
    J Inherit Metab Dis; 2012 Jan 15; 35(1):125-31. PubMed ID: 21607760
    [Abstract] [Full Text] [Related]

  • 28.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 29. Ageing muscle: clonal expansions of mitochondrial DNA point mutations and deletions cause focal impairment of mitochondrial function.
    Fayet G, Jansson M, Sternberg D, Moslemi AR, Blondy P, Lombès A, Fardeau M, Oldfors A.
    Neuromuscul Disord; 2002 Jun 15; 12(5):484-93. PubMed ID: 12031622
    [Abstract] [Full Text] [Related]

  • 30.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 31. N-acetylcysteine and cysteamine bitartrate prevent azide-induced neuromuscular decompensation by restoring glutathione balance in two novel surf1-/- zebrafish deletion models of Leigh syndrome.
    Haroon S, Yoon H, Seiler C, Osei-Frimpong B, He J, Nair RM, Mathew ND, Burg L, Kose M, Venkata CRM, Anderson VE, Nakamaru-Ogiso E, Falk MJ.
    Hum Mol Genet; 2023 Jun 05; 32(12):1988-2004. PubMed ID: 36795052
    [Abstract] [Full Text] [Related]

  • 32.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 33.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 34. A novel histochemistry assay to assess and quantify focal cytochrome c oxidase deficiency.
    Simard ML, Mourier A, Greaves LC, Taylor RW, Stewart JB.
    J Pathol; 2018 Jul 05; 245(3):311-323. PubMed ID: 29660116
    [Abstract] [Full Text] [Related]

  • 35. LRPPRC is necessary for polyadenylation and coordination of translation of mitochondrial mRNAs.
    Ruzzenente B, Metodiev MD, Wredenberg A, Bratic A, Park CB, Cámara Y, Milenkovic D, Zickermann V, Wibom R, Hultenby K, Erdjument-Bromage H, Tempst P, Brandt U, Stewart JB, Gustafsson CM, Larsson NG.
    EMBO J; 2012 Jan 18; 31(2):443-56. PubMed ID: 22045337
    [Abstract] [Full Text] [Related]

  • 36. Molecular-clinical correlation in a family with a novel heteroplasmic Leigh syndrome missense mutation in the mitochondrial cytochrome c oxidase III gene.
    Mkaouar-Rebai E, Ellouze E, Chamkha I, Kammoun F, Triki C, Fakhfakh F.
    J Child Neurol; 2011 Jan 18; 26(1):12-20. PubMed ID: 20525945
    [Abstract] [Full Text] [Related]

  • 37. The effect of small molecules on nuclear-encoded translation diseases.
    Soiferman D, Ayalon O, Weissman S, Saada A.
    Biochimie; 2014 May 18; 100():184-91. PubMed ID: 24012549
    [Abstract] [Full Text] [Related]

  • 38. Mice lacking COX10 in skeletal muscle recapitulate the phenotype of progressive mitochondrial myopathies associated with cytochrome c oxidase deficiency.
    Diaz F, Thomas CK, Garcia S, Hernandez D, Moraes CT.
    Hum Mol Genet; 2005 Sep 15; 14(18):2737-48. PubMed ID: 16103131
    [Abstract] [Full Text] [Related]

  • 39.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 40.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

    Page: [Previous] [Next] [New Search]
    of 7.