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Items: 11

1.

Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency.

Tiranti V, Hoertnagel K, Carrozzo R, Galimberti C, Munaro M, Granatiero M, Zelante L, Gasparini P, Marzella R, Rocchi M, Bayona-Bafaluy MP, Enriquez JA, Uziel G, Bertini E, Dionisi-Vici C, Franco B, Meitinger T, Zeviani M.

Am J Hum Genet. 1998 Dec;63(6):1609-21.

2.

Nuclear gene defects in mitochondrial disorders.

Zeviani M, Corona P, Nijtmans L, Tiranti V.

Ital J Neurol Sci. 1999 Dec;20(6):401-8. Review.

PMID:
10937860
3.

Cytochrome c oxidase deficiency.

Shoubridge EA.

Am J Med Genet. 2001 Spring;106(1):46-52. Review.

PMID:
11579424
4.

Human cytochrome oxidase deficiency.

Robinson BH.

Pediatr Res. 2000 Nov;48(5):581-5. Review.

PMID:
11044474
5.

The many clinical faces of cytochrome c oxidase deficiency.

DiMauro S, Tanji K, Schon EA.

Adv Exp Med Biol. 2012;748:341-57. doi: 10.1007/978-1-4614-3573-0_14. Review.

PMID:
22729865
6.

Biochemical defects and genetic abnormalities in cytochrome c oxidase of patients with Leigh syndrome.

Kadenbach B, Possekel S, Hüttemann M, Arnold S.

Biofactors. 1998;7(3):273-6. Review. No abstract available.

PMID:
9568266
7.

[Cytochrome c oxidase deficiency--SURF1 mutations].

Naito E, Ogawa Y.

Nihon Rinsho. 2002 Apr;60 Suppl 4:446-9. Review. Japanese. No abstract available.

PMID:
12013909
8.

Cytochrome oxidase deficiency: clinical and biochemical heterogeneity.

DiMauro S, Zeviani M, Servidei S, Bonilla E, Miranda AF, Prelle A, Schon EA.

Ann N Y Acad Sci. 1986;488:19-32. Review. No abstract available.

PMID:
3034115
9.

[Complex IV (cytochrome c oxidase) deficiency].

Nonaka I.

Ryoikibetsu Shokogun Shirizu. 2001;(36):137-41. Review. Japanese. No abstract available.

PMID:
11596345
10.

Cytochrome c oxidase deficiency: patients and animal models.

Diaz F.

Biochim Biophys Acta. 2010 Jan;1802(1):100-10. doi: 10.1016/j.bbadis.2009.07.013. Epub 2009 Aug 11. Review.

11.

[Leigh's syndrome and mitochondrial myopathy].

Nakase H.

Nihon Rinsho. 1993 Sep;51(9):2403-8. Review. Japanese.

PMID:
8411720

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