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Journal Abstract Search

460 related items for PubMed ID: 26510951

  • 21. Human induced pluripotent stem cells (hiPSCs) derived cells reflect tissue specificity found in patients with Leigh syndrome French Canadian variant (LSFC).
    Gélinas R, Lévesque C, Thompson Legault J, Rivard ME, Villeneuve L, Laprise C, Rioux JD.
    Front Genet; 2024; 15():1375467. PubMed ID: 38706791
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  • 22. A novel neurofibromin (NF1) interaction with the leucine-rich pentatricopeptide repeat motif-containing protein links neurofibromatosis type 1 and the French Canadian variant of Leigh's syndrome in a common molecular complex.
    Arun V, Wiley JC, Kaur H, Kaplan DR, Guha A.
    J Neurosci Res; 2013 Apr; 91(4):494-505. PubMed ID: 23361976
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  • 23. Multisystem mitochondrial diseases due to mutations in mtDNA-encoded subunits of complex I.
    Danhelovska T, Kolarova H, Zeman J, Hansikova H, Vaneckova M, Lambert L, Kucerova-Vidrova V, Berankova K, Honzik T, Tesarova M.
    BMC Pediatr; 2020 Jan 29; 20(1):41. PubMed ID: 31996177
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  • 27. Adaptation of respiratory chain biogenesis to cytochrome c oxidase deficiency caused by SURF1 gene mutations.
    Kovářová N, Cížková Vrbacká A, Pecina P, Stránecký V, Pronicka E, Kmoch S, Houštěk J.
    Biochim Biophys Acta; 2012 Jul 29; 1822(7):1114-24. PubMed ID: 22465034
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  • 28. Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy.
    Carroll CJ, Isohanni P, Pöyhönen R, Euro L, Richter U, Brilhante V, Götz A, Lahtinen T, Paetau A, Pihko H, Battersby BJ, Tyynismaa H, Suomalainen A.
    J Med Genet; 2013 Mar 29; 50(3):151-9. PubMed ID: 23315540
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  • 29. A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency.
    Oláhová M, Haack TB, Alston CL, Houghton JA, He L, Morris AA, Brown GK, McFarland R, Chrzanowska-Lightowlers ZM, Lightowlers RN, Prokisch H, Taylor RW.
    Eur J Hum Genet; 2015 Jul 29; 23(7):935-9. PubMed ID: 25293719
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  • 30. Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies.
    Feichtinger RG, Oláhová M, Kishita Y, Garone C, Kremer LS, Yagi M, Uchiumi T, Jourdain AA, Thompson K, D'Souza AR, Kopajtich R, Alston CL, Koch J, Sperl W, Mastantuono E, Strom TM, Wortmann SB, Meitinger T, Pierre G, Chinnery PF, Chrzanowska-Lightowlers ZM, Lightowlers RN, DiMauro S, Calvo SE, Mootha VK, Moggio M, Sciacco M, Comi GP, Ronchi D, Murayama K, Ohtake A, Rebelo-Guiomar P, Kohda M, Kang D, Mayr JA, Taylor RW, Okazaki Y, Minczuk M, Prokisch H.
    Am J Hum Genet; 2017 Oct 05; 101(4):525-538. PubMed ID: 28942965
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  • 31. Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease.
    Uusimaa J, Jungbluth H, Fratter C, Crisponi G, Feng L, Zeviani M, Hughes I, Treacy EP, Birks J, Brown GK, Sewry CA, McDermott M, Muntoni F, Poulton J.
    J Med Genet; 2011 Oct 05; 48(10):660-668. PubMed ID: 21931168
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  • 32. Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene.
    Papadopoulou LC, Sue CM, Davidson MM, Tanji K, Nishino I, Sadlock JE, Krishna S, Walker W, Selby J, Glerum DM, Coster RV, Lyon G, Scalais E, Lebel R, Kaplan P, Shanske S, De Vivo DC, Bonilla E, Hirano M, DiMauro S, Schon EA.
    Nat Genet; 1999 Nov 05; 23(3):333-7. PubMed ID: 10545952
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  • 33. Mitochondrial vulnerability and increased susceptibility to nutrient-induced cytotoxicity in fibroblasts from leigh syndrome French canadian patients.
    Burelle Y, Bemeur C, Rivard ME, Thompson Legault J, Boucher G, LSFC Consortium, Morin C, Coderre L, Des Rosiers C.
    PLoS One; 2015 Nov 05; 10(3):e0120767. PubMed ID: 25835550
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  • 34. A genomewide linkage-disequilibrium scan localizes the Saguenay-Lac-Saint-Jean cytochrome oxidase deficiency to 2p16.
    Lee N, Daly MJ, Delmonte T, Lander ES, Xu F, Hudson TJ, Mitchell GA, Morin CC, Robinson BH, Rioux JD.
    Am J Hum Genet; 2001 Feb 05; 68(2):397-409. PubMed ID: 11156535
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  • 35. Neonatal multiorgan failure due to ACAD9 mutation and complex I deficiency with mitochondrial hyperplasia in liver, cardiac myocytes, skeletal muscle, and renal tubules.
    Leslie N, Wang X, Peng Y, Valencia CA, Khuchua Z, Hata J, Witte D, Huang T, Bove KE.
    Hum Pathol; 2016 Mar 05; 49():27-32. PubMed ID: 26826406
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  • 40. Novel mutations in the mitochondrial complex I assembly gene NDUFAF5 reveal heterogeneous phenotypes.
    Simon MT, Eftekharian SS, Stover AE, Osborne AF, Braffman BH, Chang RC, Wang RY, Steenari MR, Tang S, Hwu PW, Taft RJ, Benke PJ, Abdenur JE.
    Mol Genet Metab; 2019 Jan 05; 126(1):53-63. PubMed ID: 30473481
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