Weisschuh N - Search Results

1

Mutations at a split codon in the GTPase-encoding domain of OPA1 cause dominant optic atrophy through different molecular mechanisms.

Weisschuh N, Marino V, Schäferhoff K, Richter P, Park J, Haack TB, Dell'Orco D. Weisschuh N, et al. Hum Mol Genet. 2022 Mar 3;31(5):761-774. doi: 10.1093/hmg/ddab286. Hum Mol Genet. 2022. PMID: 34559197 Free PMC article.

2

Variants in ASB10 are associated with open-angle glaucoma.

Pasutto F, Keller KE, Weisschuh N, Sticht H, Samples JR, Yang YF, Zenkel M, Schlötzer-Schrehardt U, Mardin CY, Frezzotti P, Edmunds B, Kramer PL, Gramer E, Reis A, Acott TS, Wirtz MK. Pasutto F, et al. Among authors: weisschuh n. Hum Mol Genet. 2012 Mar 15;21(6):1336-49. doi: 10.1093/hmg/ddr572. Epub 2011 Dec 8. Hum Mol Genet. 2012. PMID: 22156576 Free PMC article.

3

Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy.

Roosing S, Rohrschneider K, Beryozkin A, Sharon D, Weisschuh N, Staller J, Kohl S, Zelinger L, Peters TA, Neveling K, Strom TM; European Retinal Disease Consortium; van den Born LI, Hoyng CB, Klaver CC, Roepman R, Wissinger B, Banin E, Cremers FP, den Hollander AI. Roosing S, et al. Among authors: weisschuh n. Am J Hum Genet. 2013 Jul 11;93(1):110-7. doi: 10.1016/j.ajhg.2013.05.005. Epub 2013 Jun 6. Am J Hum Genet. 2013. PMID: 23746546 Free PMC article.

4

Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone-rod dystrophy by pseudoexon activation.

Mayer AK, Rohrschneider K, Strom TM, Glöckle N, Kohl S, Wissinger B, Weisschuh N. Mayer AK, et al. Among authors: weisschuh n. Eur J Hum Genet. 2016 Mar;24(3):459-62. doi: 10.1038/ejhg.2015.144. Epub 2015 Jul 8. Eur J Hum Genet. 2016. PMID: 26153215 Free PMC article.

5

Dysfunction of cGMP signalling in photoreceptors by a macular dystrophy-related mutation in the calcium sensor GCAP1.

Vocke F, Weisschuh N, Marino V, Malfatti S, Jacobson SG, Reiff CM, Dell'Orco D, Koch KW. Vocke F, et al. Among authors: weisschuh n. Hum Mol Genet. 2017 Jan 1;26(1):133-144. doi: 10.1093/hmg/ddw374. Hum Mol Genet. 2017. PMID: 28025326

6

Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports.

Kloth K, Synofzik M, Kernstock C, Schimpf-Linzenbold S, Schuettauf F, Neu A, Wissinger B, Weisschuh N. Kloth K, et al. Among authors: weisschuh n. BMC Med Genet. 2019 Apr 8;20(1):62. doi: 10.1186/s12881-019-0795-x. BMC Med Genet. 2019. PMID: 30961538 Free PMC article.

7

Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy.

Piro-Mégy C, Sarzi E, Tarrés-Solé A, Péquignot M, Hensen F, Quilès M, Manes G, Chakraborty A, Sénéchal A, Bocquet B, Cazevieille C, Roubertie A, Müller A, Charif M, Goudenège D, Lenaers G, Wilhelm H, Kellner U, Weisschuh N, Wissinger B, Zanlonghi X, Hamel C, Spelbrink JN, Sola M, Delettre C. Piro-Mégy C, et al. Among authors: weisschuh n. J Clin Invest. 2020 Jan 2;130(1):143-156. doi: 10.1172/JCI128513. J Clin Invest. 2020. PMID: 31550237 Free PMC article.

8

Neuronal Calcium Sensor GCAP1 Encoded by GUCA1A Exhibits Heterogeneous Functional Properties in Two Cases of Retinitis Pigmentosa.

Abbas S, Marino V, Weisschuh N, Kieninger S, Solaki M, Dell'Orco D, Koch KW. Abbas S, et al. Among authors: weisschuh n. ACS Chem Neurosci. 2020 May 20;11(10):1458-1470. doi: 10.1021/acschemneuro.0c00111. Epub 2020 Apr 29. ACS Chem Neurosci. 2020. PMID: 32298085

9

First submicroscopic inversion of the OPA1 gene identified in dominant optic atrophy - a case report.

Weisschuh N, Mazzola P, Heinrich T, Haack T, Wissinger B, Tonagel F, Kelbsch C. Weisschuh N, et al. BMC Med Genet. 2020 Nov 26;21(1):236. doi: 10.1186/s12881-020-01166-z. BMC Med Genet. 2020. PMID: 33243194 Free PMC article.

10

Autosomal Dominant Gyrate Atrophy-Like Choroidal Dystrophy Revisited: 45 Years Follow-Up and Association with a Novel C1QTNF5 Missense Variant.

Kellner U, Weisschuh N, Weinitz S, Farmand G, Deutsch S, Kortüm F, Mazzola P, Schäferhoff K, Marino V, Dell'Orco D. Kellner U, et al. Among authors: weisschuh n. Int J Mol Sci. 2021 Feb 19;22(4):2089. doi: 10.3390/ijms22042089. Int J Mol Sci. 2021. PMID: 33669876 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

99 results

Search Page

Filters