Rüther K - Search Results

1

Mutations in TOPORS: a rare cause of autosomal dominant retinitis pigmentosa in continental Europe?

Schob C, Orth U, Gal A, Kindler S, Chakarova CF, Bhattacharya SS, Rüther K. Schob C, et al. Among authors: ruther k. Ophthalmic Genet. 2009 Jun;30(2):96-8. doi: 10.1080/13816810802695543. Ophthalmic Genet. 2009. PMID: 19373681

2

Identification of a PRPF4 loss-of-function variant that abrogates U4/U6.U5 tri-snRNP integration and is associated with retinitis pigmentosa.

Linder B, Hirmer A, Gal A, Rüther K, Bolz HJ, Winkler C, Laggerbauer B, Fischer U. Linder B, et al. Among authors: ruther k. PLoS One. 2014 Nov 10;9(11):e111754. doi: 10.1371/journal.pone.0111754. eCollection 2014. PLoS One. 2014. PMID: 25383878 Free PMC article.

3

Ocular findings in patients with autosomal dominant retinitis pigmentosa and Cys110Phe, Arg135Gly, and Gln344stop mutations of rhodopsin.

Kremmer S, Eckstein A, Gal A, Apfelstedt-Sylla E, Wedemann H, Rüther K, Zrenner E. Kremmer S, et al. Among authors: ruther k. Graefes Arch Clin Exp Ophthalmol. 1997 Sep;235(9):575-83. doi: 10.1007/BF00947087. Graefes Arch Clin Exp Ophthalmol. 1997. PMID: 9342608

4

Diffuse loss of rod function in autosomal dominant retinitis pigmentosa with pro-347-leu mutation of rhodopsin.

Apfelstedt-Sylla E, Kunisch M, Horn M, Rüther K, Gal A, Zrenner E. Apfelstedt-Sylla E, et al. Among authors: ruther k. Ger J Ophthalmol. 1992;1(5):319-27. Ger J Ophthalmol. 1992. PMID: 1477634

5

Ocular findings in a family with autosomal dominant retinitis pigmentosa and a frameshift mutation altering the carboxyl terminal sequence of rhodopsin.

Apfelstedt-Sylla E, Kunisch M, Horn M, Rüther K, Gerding H, Gal A, Zrenner E. Apfelstedt-Sylla E, et al. Among authors: ruther k. Br J Ophthalmol. 1993 Aug;77(8):495-501. doi: 10.1136/bjo.77.8.495. Br J Ophthalmol. 1993. PMID: 8025047 Free PMC article.

6

Targeted disruption of the murine retinal dehydrogenase gene Rdh12 does not limit visual cycle function.

Kurth I, Thompson DA, Rüther K, Feathers KL, Chrispell JD, Schroth J, McHenry CL, Schweizer M, Skosyrski S, Gal A, Hübner CA. Kurth I, et al. Among authors: ruther k. Mol Cell Biol. 2007 Feb;27(4):1370-9. doi: 10.1128/MCB.01486-06. Epub 2006 Nov 27. Mol Cell Biol. 2007. PMID: 17130236 Free PMC article.

7

Extensive intrafamilial and interfamilial phenotypic variation among patients with autosomal dominant retinal dystrophy and mutations in the human RDS/peripherin gene.

Apfelstedt-Sylla E, Theischen M, Rüther K, Wedemann H, Gal A, Zrenner E. Apfelstedt-Sylla E, et al. Among authors: ruther k. Br J Ophthalmol. 1995 Jan;79(1):28-34. doi: 10.1136/bjo.79.1.28. Br J Ophthalmol. 1995. PMID: 7880786 Free PMC article.

8

[The role of the ophthalmologist in the management of juvenile neuronal ceroid lipofuscinosis].

Rüther K, Gal A, Kohlschütter A. Rüther K, et al. Klin Monbl Augenheilkd. 2006 Jun;223(6):542-4. doi: 10.1055/s-2005-859019. Klin Monbl Augenheilkd. 2006. PMID: 16804827 German.

9

Transcorneal Electrical Stimulation for the Treatment of Retinitis Pigmentosa: A Multicenter Safety Study of the OkuStim® System (TESOLA-Study).

Jolly JK, Wagner SK, Martus P, MacLaren RE, Wilhelm B, Webster AR, Downes SM, Charbel Issa P, Kellner U, Jägle H, Rüther K, Bertelsen M, Bragadóttir R, Prener Holtan J, van den Born LI, Sodi A, Virgili G, Gosheva M, Pach J, Zündorf I, Zrenner E, Gekeler F. Jolly JK, et al. Among authors: ruther k. Ophthalmic Res. 2020;63(3):234-243. doi: 10.1159/000505001. Epub 2019 Nov 26. Ophthalmic Res. 2020. PMID: 31775146 Clinical Trial.

10

Detection and characterization of point mutations in the choroideremia candidate gene by PCR-SSCP analysis and direct DNA sequencing.

van den Hurk JA, van de Pol TJ, Molloy CM, Brunsmann F, Rüther K, Zrenner E, Pinckers AJ, Pawlowitzki IH, Bleeker-Wagemakers EM, Wieringa B, et al. van den Hurk JA, et al. Among authors: ruther k. Am J Hum Genet. 1992 Jun;50(6):1195-202. Am J Hum Genet. 1992. PMID: 1598901 Free PMC article.

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