Neidhardt J - Search Results

1

Identification and functional characterization of a novel rhodopsin mutation associated with autosomal dominant CSNB.

Zeitz C, Gross AK, Leifert D, Kloeckener-Gruissem B, McAlear SD, Lemke J, Neidhardt J, Berger W. Zeitz C, et al. Among authors: neidhardt j. Invest Ophthalmol Vis Sci. 2008 Sep;49(9):4105-14. doi: 10.1167/iovs.08-1717. Epub 2008 May 16. Invest Ophthalmol Vis Sci. 2008. PMID: 18487375

2

Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram.

Zeitz C, van Genderen M, Neidhardt J, Luhmann UF, Hoeben F, Forster U, Wycisk K, Mátyás G, Hoyng CB, Riemslag F, Meire F, Cremers FP, Berger W. Zeitz C, et al. Among authors: neidhardt j. Invest Ophthalmol Vis Sci. 2005 Nov;46(11):4328-35. doi: 10.1167/iovs.05-0526. Invest Ophthalmol Vis Sci. 2005. PMID: 16249515

3

Different amino acid substitutions at the same position in rhodopsin lead to distinct phenotypes.

Neidhardt J, Barthelmes D, Farahmand F, Fleischhauer JC, Berger W. Neidhardt J, et al. Invest Ophthalmol Vis Sci. 2006 Apr;47(4):1630-5. doi: 10.1167/iovs.05-1317. Invest Ophthalmol Vis Sci. 2006. PMID: 16565402

4

Mutation- and tissue-specific alterations of RPGR transcripts.

Schmid F, Glaus E, Cremers FP, Kloeckener-Gruissem B, Berger W, Neidhardt J. Schmid F, et al. Among authors: neidhardt j. Invest Ophthalmol Vis Sci. 2010 Mar;51(3):1628-35. doi: 10.1167/iovs.09-4031. Epub 2009 Oct 15. Invest Ophthalmol Vis Sci. 2010. PMID: 19834030 Free article.

5

Structural and functional abnormalities of retinal ribbon synapses due to Cacna2d4 mutation.

Wycisk KA, Budde B, Feil S, Skosyrski S, Buzzi F, Neidhardt J, Glaus E, Nürnberg P, Ruether K, Berger W. Wycisk KA, et al. Among authors: neidhardt j. Invest Ophthalmol Vis Sci. 2006 Aug;47(8):3523-30. doi: 10.1167/iovs.06-0271. Invest Ophthalmol Vis Sci. 2006. PMID: 16877424

6

Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy.

Wycisk KA, Zeitz C, Feil S, Wittmer M, Forster U, Neidhardt J, Wissinger B, Zrenner E, Wilke R, Kohl S, Berger W. Wycisk KA, et al. Among authors: neidhardt j. Am J Hum Genet. 2006 Nov;79(5):973-7. doi: 10.1086/508944. Epub 2006 Sep 27. Am J Hum Genet. 2006. PMID: 17033974 Free PMC article.

7

Night blindness-associated mutations in the ligand-binding, cysteine-rich, and intracellular domains of the metabotropic glutamate receptor 6 abolish protein trafficking.

Zeitz C, Forster U, Neidhardt J, Feil S, Kälin S, Leifert D, Flor PJ, Berger W. Zeitz C, et al. Among authors: neidhardt j. Hum Mutat. 2007 Aug;28(8):771-80. doi: 10.1002/humu.20499. Hum Mutat. 2007. PMID: 17405131

8

Identification and characterization of a novel RPGR isoform in human retina.

Neidhardt J, Glaus E, Barthelmes D, Zeitz C, Fleischhauer J, Berger W. Neidhardt J, et al. Hum Mutat. 2007 Aug;28(8):797-807. doi: 10.1002/humu.20521. Hum Mutat. 2007. PMID: 17405150

9

Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria.

Kloeckener-Gruissem B, Vandekerckhove K, Nürnberg G, Neidhardt J, Zeitz C, Nürnberg P, Schipper I, Berger W. Kloeckener-Gruissem B, et al. Among authors: neidhardt j. Am J Hum Genet. 2008 Mar;82(3):772-9. doi: 10.1016/j.ajhg.2007.12.013. Epub 2008 Feb 14. Am J Hum Genet. 2008. PMID: 18304496 Free PMC article.

10

Cone versus rod disease in a mutant Rpgr mouse caused by different genetic backgrounds.

Brunner S, Skosyrski S, Kirschner-Schwabe R, Knobeloch KP, Neidhardt J, Feil S, Glaus E, Luhmann UF, Rüther K, Berger W. Brunner S, et al. Among authors: neidhardt j. Invest Ophthalmol Vis Sci. 2010 Feb;51(2):1106-15. doi: 10.1167/iovs.08-2742. Epub 2009 Dec 10. Invest Ophthalmol Vis Sci. 2010. PMID: 20007830 Free article.

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