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Journal Abstract Search

218 related items for PubMed ID: 11955936

  • 1.
    ; . PubMed ID:
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  • 2. 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]

  • 3. 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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  • 5. Leigh syndrome in an infant resulting from mitochondrial DNA depletion.
    Absalon MJ, Harding CO, Fain DR, Li L, Mack KJ.
    Pediatr Neurol; 2001 Jan 29; 24(1):60-3. PubMed ID: 11182283
    [Abstract] [Full Text] [Related]

  • 6. Cardiomyopathy associated with neurologic disorders and mitochondrial phenotype.
    Marín-García J, Goldenthal MJ, Filiano JJ.
    J Child Neurol; 2002 Oct 29; 17(10):759-65. PubMed ID: 12546431
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  • 7. Mitochondrial dysfunction in patients with hypotonia, epilepsy, autism, and developmental delay: HEADD syndrome.
    Fillano JJ, Goldenthal MJ, Rhodes CH, Marín-García J.
    J Child Neurol; 2002 Jun 29; 17(6):435-9. PubMed ID: 12174964
    [Abstract] [Full Text] [Related]

  • 8. [Clinical and genetic characteristics of children with Leigh syndrome].
    Fang F, Shen Y, Shen DM, Liu ZM, Ding CH, Zhang WC, Sun SZ, Lyu JL, Han TL, Wang XH, Zhang WH, Yang XY, Li JW, Wu HS.
    Zhonghua Er Ke Za Zhi; 2017 Mar 02; 55(3):205-209. PubMed ID: 28273704
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  • 9. 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 02; 49():27-32. PubMed ID: 26826406
    [Abstract] [Full Text] [Related]

  • 10. 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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  • 11. Fulminant neurological deterioration in a neonate with Leigh syndrome due to a maternally transmitted missense mutation in the mitochondrial ND3 gene.
    Leshinsky-Silver E, Lev D, Tzofi-Berman Z, Cohen S, Saada A, Yanoov-Sharav M, Gilad E, Lerman-Sagie T.
    Biochem Biophys Res Commun; 2005 Aug 26; 334(2):582-7. PubMed ID: 16023078
    [Abstract] [Full Text] [Related]

  • 12. Clinical and molecular survey in 124 Chinese patients with Leigh or Leigh-like syndrome.
    Zhang Y, Yang YL, Sun F, Cai X, Qian N, Yuan Y, Wang ZX, Qi Y, Xiao JX, Wang XY, Zhang YH, Jiang YW, Qin J, Wu XR.
    J Inherit Metab Dis; 2007 Apr 26; 30(2):265. PubMed ID: 17323145
    [Abstract] [Full Text] [Related]

  • 13. 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 26; 13(6):550-2. PubMed ID: 19046652
    [Abstract] [Full Text] [Related]

  • 14. A guide to diagnosis and treatment of Leigh syndrome.
    Baertling F, Rodenburg RJ, Schaper J, Smeitink JA, Koopman WJ, Mayatepek E, Morava E, Distelmaier F.
    J Neurol Neurosurg Psychiatry; 2014 Mar 26; 85(3):257-65. PubMed ID: 23772060
    [Abstract] [Full Text] [Related]

  • 15. Leigh-like subacute necrotising encephalopathy in Yorkshire Terriers: neuropathological characterisation, respiratory chain activities and mitochondrial DNA.
    Baiker K, Hofmann S, Fischer A, Gödde T, Medl S, Schmahl W, Bauer MF, Matiasek K.
    Acta Neuropathol; 2009 Nov 26; 118(5):697-709. PubMed ID: 19466433
    [Abstract] [Full Text] [Related]

  • 16. Leigh and Leigh-like syndrome in children and adults.
    Finsterer J.
    Pediatr Neurol; 2008 Oct 26; 39(4):223-35. PubMed ID: 18805359
    [Abstract] [Full Text] [Related]

  • 17. Leigh disease with brainstem involvement in complex I deficiency due to assembly factor NDUFAF2 defect.
    Herzer M, Koch J, Prokisch H, Rodenburg R, Rauscher C, Radauer W, Forstner R, Pilz P, Rolinski B, Freisinger P, Mayr JA, Sperl W.
    Neuropediatrics; 2010 Feb 26; 41(1):30-4. PubMed ID: 20571988
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  • 18. Mitochondrial respiratory chain enzyme assay and DNA analysis in peripheral blood leukocytes for the etiological study of Chinese children with Leigh syndrome due to complex I deficiency.
    Ma YY, Wu TF, Liu YP, Wang Q, Li XY, Zhang Y, Song JQ, Wang YJ, Yang YL.
    Mitochondrial DNA; 2013 Feb 26; 24(1):67-73. PubMed ID: 22947169
    [Abstract] [Full Text] [Related]

  • 19. Mitochondrial respiratory rates and activities of respiratory chain complexes correlate linearly with heteroplasmy of deleted mtDNA without threshold and independently of deletion size.
    Gellerich FN, Deschauer M, Chen Y, Müller T, Neudecker S, Zierz S.
    Biochim Biophys Acta; 2002 Oct 03; 1556(1):41-52. PubMed ID: 12351217
    [Abstract] [Full Text] [Related]

  • 20. 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 03; 117(3):300-12. PubMed ID: 26725255
    [Abstract] [Full Text] [Related]

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