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Journal Abstract Search

245 related items for PubMed ID: 21266382

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  • 2. 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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  • 3. [Cytochrome c oxydase-deficient Leigh syndrome with homozygous mutation in SURF1 gene].
    Monnot S, Chabrol B, Cano A, Pellissier JF, Collignon P, Montfort MF, Paquis-Flucklinger V.
    Arch Pediatr; 2005 May 05; 12(5):568-71. PubMed ID: 15885549
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  • 4. Maternal segmental disomy in Leigh syndrome with cytochrome c oxidase deficiency caused by homozygous SURF1 mutation.
    van Riesen AK, Antonicka H, Ohlenbusch A, Shoubridge EA, Wilichowski EK.
    Neuropediatrics; 2006 Apr 05; 37(2):88-94. PubMed ID: 16773507
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  • 10. Human cytochrome oxidase deficiency.
    Robinson BH.
    Pediatr Res; 2000 Nov 05; 48(5):581-5. PubMed ID: 11044474
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  • 16. Studies of COX16, COX19, and PET191 in human cytochrome-c oxidase deficiency.
    Tay SK, Nesti C, Mancuso M, Schon EA, Shanske S, Bonilla E, Davidson MM, Dimauro S.
    Arch Neurol; 2004 Dec 05; 61(12):1935-7. PubMed ID: 15596615
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  • 18. TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome.
    Spiegel R, Khayat M, Shalev SA, Horovitz Y, Mandel H, Hershkovitz E, Barghuti F, Shaag A, Saada A, Korman SH, Elpeleg O, Yatsiv I.
    J Med Genet; 2011 Mar 05; 48(3):177-82. PubMed ID: 21147908
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  • 20. Clinical, metabolic, and genetic aspects of cytochrome C oxidase deficiency in Saguenay-Lac-Saint-Jean.
    Morin C, Mitchell G, Larochelle J, Lambert M, Ogier H, Robinson BH, De Braekeleer M.
    Am J Hum Genet; 1993 Aug 05; 53(2):488-96. PubMed ID: 8392291
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