Weisschuh N - Search Results

1

Progress in the genetics of glaucoma.

Weisschuh N, Schiefer U. Weisschuh N, et al. Dev Ophthalmol. 2003;37:83-93. doi: 10.1159/000072040. Dev Ophthalmol. 2003. PMID: 12876831 Review.

2

A patient-based model of RNA mis-splicing uncovers treatment targets in Parkinson's disease.

Boussaad I, Obermaier CD, Hanss Z, Bobbili DR, Bolognin S, Glaab E, Wołyńska K, Weisschuh N, De Conti L, May C, Giesert F, Grossmann D, Lambert A, Kirchen S, Biryukov M, Burbulla LF, Massart F, Bohler J, Cruciani G, Schmid B, Kurz-Drexler A, May P, Duga S, Klein C, Schwamborn JC, Marcus K, Woitalla D, Vogt Weisenhorn DM, Wurst W, Baralle M, Krainc D, Gasser T, Wissinger B, Krüger R. Boussaad I, et al. Among authors: weisschuh n. Sci Transl Med. 2020 Sep 9;12(560):eaau3960. doi: 10.1126/scitranslmed.aau3960. Sci Transl Med. 2020. PMID: 32908004

3

X-Linked Retinitis Pigmentosa Caused by Non-Canonical Splice Site Variants in RPGR.

Kortüm F, Kieninger S, Mazzola P, Kohl S, Wissinger B, Prokisch H, Stingl K, Weisschuh N. Kortüm F, et al. Among authors: weisschuh n. Int J Mol Sci. 2021 Jan 16;22(2):850. doi: 10.3390/ijms22020850. Int J Mol Sci. 2021. PMID: 33467000 Free PMC article.

4

Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation.

Weisschuh N, Sturm M, Baumann B, Audo I, Ayuso C, Bocquet B, Branham K, Brooks BP, Catalá-Mora J, Giorda R, Heckenlively JR, Hufnagel RB, Jacobson SG, Kellner U, Kitsiou-Tzeli S, Matet A, Martorell Sampol L, Meunier I, Rudolph G, Sharon D, Stingl K, Streubel B, Varsányi B, Wissinger B, Kohl S. Weisschuh N, et al. Hum Mutat. 2020 Jan;41(1):255-264. doi: 10.1002/humu.23920. Epub 2019 Sep 30. Hum Mutat. 2020. PMID: 31544997 Free PMC article.

5

Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9-year period.

Weisschuh N, Obermaier CD, Battke F, Bernd A, Kuehlewein L, Nasser F, Zobor D, Zrenner E, Weber E, Wissinger B, Biskup S, Stingl K, Kohl S. Weisschuh N, et al. Hum Mutat. 2020 Sep;41(9):1514-1527. doi: 10.1002/humu.24064. Epub 2020 Jun 29. Hum Mutat. 2020. PMID: 32531858

6

Prevalence of myocilin and optineurin sequence variants in German normal tension glaucoma patients.

Weisschuh N, Neumann D, Wolf C, Wissinger B, Gramer E. Weisschuh N, et al. Mol Vis. 2005 Apr 18;11:284-7. Mol Vis. 2005. PMID: 15851979

7

Novel rhodopsin mutations and genotype-phenotype correlation in patients with autosomal dominant retinitis pigmentosa.

Schuster A, Weisschuh N, Jägle H, Besch D, Janecke AR, Zierler H, Tippmann S, Zrenner E, Wissinger B. Schuster A, et al. Among authors: weisschuh n. Br J Ophthalmol. 2005 Oct;89(10):1258-64. doi: 10.1136/bjo.2004.063933. Br J Ophthalmol. 2005. PMID: 16170112 Free PMC article.

8

Novel mutations of FOXC1 and PITX2 in patients with Axenfeld-Rieger malformations.

Weisschuh N, Dressler P, Schuettauf F, Wolf C, Wissinger B, Gramer E. Weisschuh N, et al. Invest Ophthalmol Vis Sci. 2006 Sep;47(9):3846-52. doi: 10.1167/iovs.06-0343. Invest Ophthalmol Vis Sci. 2006. PMID: 16936096

9

Variations in the WDR36 gene in German patients with normal tension glaucoma.

Weisschuh N, Wolf C, Wissinger B, Gramer E. Weisschuh N, et al. Mol Vis. 2007 May 16;13:724-9. Mol Vis. 2007. PMID: 17563723 Free PMC article.

10

Exploring functional candidate genes for genetic association in german patients with pseudoexfoliation syndrome and pseudoexfoliation glaucoma.

Krumbiegel M, Pasutto F, Mardin CY, Weisschuh N, Paoli D, Gramer E, Zenkel M, Weber BH, Kruse FE, Schlötzer-Schrehardt U, Reis A. Krumbiegel M, et al. Among authors: weisschuh n. Invest Ophthalmol Vis Sci. 2009 Jun;50(6):2796-801. doi: 10.1167/iovs.08-2339. Epub 2009 Jan 31. Invest Ophthalmol Vis Sci. 2009. PMID: 19182256

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