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Results: 6

1.

OPA1 mutations in Japanese patients suspected to have autosomal dominant optic atrophy.

Hamahata T, Fujimaki T, Fujiki K, Miyazaki A, Mizota A, Murakami A.

Jpn J Ophthalmol. 2012 Jan;56(1):91-7. doi: 10.1007/s10384-011-0096-1. Epub 2011 Nov 1.

PMID:
22042570
[PubMed - indexed for MEDLINE]
2.

OPA1-associated disorders: phenotypes and pathophysiology.

Amati-Bonneau P, Milea D, Bonneau D, Chevrollier A, Ferré M, Guillet V, Gueguen N, Loiseau D, de Crescenzo MA, Verny C, Procaccio V, Lenaers G, Reynier P.

Int J Biochem Cell Biol. 2009 Oct;41(10):1855-65. doi: 10.1016/j.biocel.2009.04.012. Epub 2009 Apr 21. Review.

PMID:
19389487
[PubMed - indexed for MEDLINE]
3.

OPA1 (Kjer type) dominant optic atrophy: a novel mitochondrial disease.

Delettre C, Lenaers G, Pelloquin L, Belenguer P, Hamel CP.

Mol Genet Metab. 2002 Feb;75(2):97-107. Review.

PMID:
11855928
[PubMed - indexed for MEDLINE]
4.

Two nonsense mutations of PAX6 in two Japanese aniridia families: case report and review of the literature.

Kondo-Saitoh A, Matsumoto N, Sasaki T, Egashira M, Saitoh A, Yamada K, Niikawa N, Amemiya T.

Eur J Ophthalmol. 2000 Apr-Jun;10(2):167-72. Review.

PMID:
10887930
[PubMed - indexed for MEDLINE]
5.

Mouse models of dominant optic atrophy: what do they tell us about the pathophysiology of visual loss?

Williams PA, Morgan JE, Votruba M.

Vision Res. 2011 Jan 28;51(2):229-34. doi: 10.1016/j.visres.2010.08.031. Epub 2010 Aug 27. Review.

PMID:
20801145
[PubMed - indexed for MEDLINE]
Free Article
6.

Focus on molecules: the OPA1 protein.

Davies V, Votruba M.

Exp Eye Res. 2006 Nov;83(5):1003-4. Epub 2006 Mar 23. Review. No abstract available.

PMID:
16563384
[PubMed - indexed for MEDLINE]

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