Votruba M - Search Results

1

Electrophysiological findings in dominant optic atrophy (DOA) linking to the OPA1 locus on chromosome 3q 28-qter.

Holder GE, Votruba M, Carter AC, Bhattacharya SS, Fitzke FW, Moore AT. Holder GE, et al. Among authors: votruba m. Doc Ophthalmol. 1998-1999;95(3-4):217-28. doi: 10.1023/a:1001844021014. Doc Ophthalmol. 1998. PMID: 10532406

2

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.

3

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

4

Clinical features in affected individuals from 21 pedigrees with dominant optic atrophy.

Votruba M, Fitzke FW, Holder GE, Carter A, Bhattacharya SS, Moore AT. Votruba M, et al. Arch Ophthalmol. 1998 Mar;116(3):351-8. doi: 10.1001/archopht.116.3.351. Arch Ophthalmol. 1998. PMID: 9514489

5

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

6

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.

7

MRI of the intraorbital optic nerve in patients with autosomal dominant optic atrophy.

Votruba M, Leary S, Losseff N, Bhattacharya SS, Moore AT, Miller DH, Moseley IF. Votruba M, et al. Neuroradiology. 2000 Mar;42(3):180-3. doi: 10.1007/s002340050041. Neuroradiology. 2000. PMID: 10772138

8

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

9

The pupil in dominant optic atrophy.

Bremner FD, Tomlin EA, Shallo-Hoffmann J, Votruba M, Smith SE. Bremner FD, et al. Among authors: votruba m. Invest Ophthalmol Vis Sci. 2001 Mar;42(3):675-8. Invest Ophthalmol Vis Sci. 2001. PMID: 11222526

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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