Votruba M - Search Results

1

A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy.

Thiselton DL, Alexander C, Taanman JW, Brooks S, Rosenberg T, Eiberg H, Andreasson S, Van Regemorter N, Munier FL, Moore AT, Bhattacharya SS, Votruba M. Thiselton DL, et al. Among authors: votruba m. Invest Ophthalmol Vis Sci. 2002 Jun;43(6):1715-24. Invest Ophthalmol Vis Sci. 2002. PMID: 12036970 Free article.

2

Electrophysiology and ocular blood flow in a family with dominant optic nerve atrophy and a mutation in the OPA1 gene.

Gränse L, Bergstrand I, Thiselton D, Ponjavic V, Heijl A, Votruba M, Andréasson S. Gränse L, et al. Among authors: votruba m. Ophthalmic Genet. 2003 Dec;24(4):233-45. doi: 10.1076/opge.24.4.233.17230. Ophthalmic Genet. 2003. PMID: 14566653

3

Developmental expression profile of the optic atrophy gene product: OPA1 is not localized exclusively in the mammalian retinal ganglion cell layer.

Aijaz S, Erskine L, Jeffery G, Bhattacharya SS, Votruba M. Aijaz S, et al. Among authors: votruba m. Invest Ophthalmol Vis Sci. 2004 Jun;45(6):1667-73. doi: 10.1167/iovs.03-1093. Invest Ophthalmol Vis Sci. 2004. PMID: 15161824 Free article.

4

The Pattern of Retinal Ganglion Cell Loss in OPA1-Related Autosomal Dominant Optic Atrophy Inferred From Temporal, Spatial, and Chromatic Sensitivity Losses.

Majander A, João C, Rider AT, Henning GB, Votruba M, Moore AT, Yu-Wai-Man P, Stockman A. Majander A, et al. Among authors: votruba m. Invest Ophthalmol Vis Sci. 2017 Jan 1;58(1):502-516. doi: 10.1167/iovs.16-20309. Invest Ophthalmol Vis Sci. 2017. PMID: 28125838 Free PMC article.

5

Genetic refinement of dominant optic atrophy (OPA1) locus to within a 2 cM interval of chromosome 3q.

Votruba M, Moore AT, Bhattacharya SS. Votruba M, et al. J Med Genet. 1997 Feb;34(2):117-21. doi: 10.1136/jmg.34.2.117. J Med Genet. 1997. PMID: 9039986 Free PMC article.

6

Demonstration of a founder effect and fine mapping of dominant optic atrophy locus on 3q28-qter by linkage disequilibrium method: a study of 38 British Isles pedigrees.

Votruba M, Moore AT, Bhattacharya SS. Votruba M, et al. Hum Genet. 1998 Jan;102(1):79-86. doi: 10.1007/s004390050657. Hum Genet. 1998. PMID: 9490303

7

Dominant optic atrophy: exclusion and fine genetic mapping of the candidate gene, HRY.

Votruba M, Payne A, Moore AT, Bhattacharya SS. Votruba M, et al. Mamm Genome. 1998 Oct;9(10):784-7. doi: 10.1007/s003359900867. Mamm Genome. 1998. PMID: 9745030

8

Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy.

Votruba M, Moore AT, Bhattacharya SS. Votruba M, et al. J Med Genet. 1998 Oct;35(10):793-800. doi: 10.1136/jmg.35.10.793. J Med Genet. 1998. PMID: 9783700 Free PMC article. Review.

9

OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28.

Alexander C, Votruba M, Pesch UE, Thiselton DL, Mayer S, Moore A, Rodriguez M, Kellner U, Leo-Kottler B, Auburger G, Bhattacharya SS, Wissinger B. Alexander C, et al. Among authors: votruba m. Nat Genet. 2000 Oct;26(2):211-5. doi: 10.1038/79944. Nat Genet. 2000. PMID: 11017080

10

A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population: evidence for a founder effect.

Thiselton DL, Alexander C, Morris A, Brooks S, Rosenberg T, Eiberg H, Kjer B, Kjer P, Bhattacharya SS, Votruba M. Thiselton DL, et al. Among authors: votruba m. Hum Genet. 2001 Nov;109(5):498-502. doi: 10.1007/s004390100600. Epub 2001 Oct 3. Hum Genet. 2001. PMID: 11735024

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