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Journal Abstract Search

597 related items for PubMed ID: 26725255

  • 1. 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
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  • 4. Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome.
    Gerards M, Kamps R, van Oevelen J, Boesten I, Jongen E, de Koning B, Scholte HR, de Angst I, Schoonderwoerd K, Sefiani A, Ratbi I, Coppieters W, Karim L, de Coo R, van den Bosch B, Smeets H.
    Brain; 2013 Mar; 136(Pt 3):882-90. PubMed ID: 23423671
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  • 6. Clinical and laboratory survey of 65 Chinese patients with Leigh syndrome.
    Yang YL, Sun F, Zhang Y, Qian N, Yuan Y, Wang ZX, Qi Y, Xiao JX, Wang XY, Qi ZY, Zhang YH, Jiang YW, Bao XH, Qin J, Wu XR.
    Chin Med J (Engl); 2006 Mar 05; 119(5):373-7. PubMed ID: 16542579
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  • 7. [The molecular background of Leigh syndrome].
    Piekutowska-Abramczuk D.
    Neurol Neurochir Pol; 2008 Mar 05; 42(3):238-50. PubMed ID: 18651330
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  • 9. Mutations in SURF1 are important genetic causes of Leigh syndrome in Slovak patients.
    Danis D, Brennerova K, Skopkova M, Kurdiova T, Ukropec J, Stanik J, Kolnikova M, Gasperikova D.
    Endocr Regul; 2018 Apr 01; 52(2):110-118. PubMed ID: 29715184
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  • 10. Mitochondrial DNA mutations in late-onset Leigh syndrome.
    Wei Y, Cui L, Peng B.
    J Neurol; 2018 Oct 01; 265(10):2388-2395. PubMed ID: 30128709
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  • 11. Clinical and magnetic resonance imaging findings in patients with Leigh syndrome and SURF1 mutations.
    Sonam K, Khan NA, Bindu PS, Taly AB, Gayathri N, Bharath MM, Govindaraju C, Arvinda HR, Nagappa M, Sinha S, Thangaraj K.
    Brain Dev; 2014 Oct 01; 36(9):807-12. PubMed ID: 24262866
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  • 12. A novel mitochondrial DNA 8597T>C mutation of Leigh syndrome: report of one case.
    Tsai JD, Liu CS, Tsao TF, Sheu JN.
    Pediatr Neonatol; 2012 Feb 01; 53(1):60-2. PubMed ID: 22348497
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  • 18. 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 01; 40(3):188-91. PubMed ID: 12624137
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  • 19. [Syndrome Leigh caused by mutations in the SURF1 gene: clinical and molecular-genetic characteristics].
    Tsygankova PG, Mikhaĭlova SV, Zakharova EIu, Pichkur NA, Il'ina ES, Nikolaeva EA, Rudenskaia GE, Dadali EL, Kolpakchi LM, Fedoniuk ID, Matiushchenko GN.
    Zh Nevrol Psikhiatr Im S S Korsakova; 2010 Mar 01; 110(1):25-32. PubMed ID: 20436434
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