Neidhardt J - Search Results

1

In Vivo Efficacy and Safety Evaluations of Therapeutic Splicing Correction Using U1 snRNA in the Mouse Retina.

Swirski S, May O, Ahlers M, Wissinger B, Greschner M, Jüschke C, Neidhardt J. Swirski S, et al. Among authors: neidhardt j. Cells. 2023 Mar 21;12(6):955. doi: 10.3390/cells12060955. Cells. 2023. PMID: 36980294 Free PMC article.

2

Therapeutic strategy to rescue mutation-induced exon skipping in rhodopsin by adaptation of U1 snRNA.

Tanner G, Glaus E, Barthelmes D, Ader M, Fleischhauer J, Pagani F, Berger W, Neidhardt J. Tanner G, et al. Among authors: neidhardt j. Hum Mutat. 2009 Feb;30(2):255-63. doi: 10.1002/humu.20861. Hum Mutat. 2009. PMID: 18837008

3

Gene therapeutic approach using mutation-adapted U1 snRNA to correct a RPGR splice defect in patient-derived cells.

Glaus E, Schmid F, Da Costa R, Berger W, Neidhardt J. Glaus E, et al. Among authors: neidhardt j. Mol Ther. 2011 May;19(5):936-41. doi: 10.1038/mt.2011.7. Epub 2011 Feb 15. Mol Ther. 2011. PMID: 21326217 Free PMC article.

4

U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation.

Schmid F, Glaus E, Barthelmes D, Fliegauf M, Gaspar H, Nürnberg G, Nürnberg P, Omran H, Berger W, Neidhardt J. Schmid F, et al. Among authors: neidhardt j. Hum Mutat. 2011 Jul;32(7):815-24. doi: 10.1002/humu.21509. Hum Mutat. 2011. PMID: 21520335

5

Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.

Glöckle N, Kohl S, Mohr J, Scheurenbrand T, Sprecher A, Weisschuh N, Bernd A, Rudolph G, Schubach M, Poloschek C, Zrenner E, Biskup S, Berger W, Wissinger B, Neidhardt J. Glöckle N, et al. Among authors: neidhardt j. Eur J Hum Genet. 2014 Jan;22(1):99-104. doi: 10.1038/ejhg.2013.72. Epub 2013 Apr 17. Eur J Hum Genet. 2014. PMID: 23591405 Free PMC article.

6

The mutation p.E113K in the Schiff base counterion of rhodopsin is associated with two distinct retinal phenotypes within the same family.

Reiff C, Owczarek-Lipska M, Spital G, Röger C, Hinz H, Jüschke C, Thiele H, Altmüller J, Nürnberg P, Da Costa R, Neidhardt J. Reiff C, et al. Among authors: neidhardt j. Sci Rep. 2016 Nov 4;6:36208. doi: 10.1038/srep36208. Sci Rep. 2016. PMID: 27812022 Free PMC article.

7

A Novel C-Terminal Mutation in Gsdma3 (C+/H-) Leads to Alopecia and Corneal Inflammatory Response in Mice.

Swirski S, Röger C, Pienkowska-Schelling A, Ihlenburg C, Fischer G, May O, Vorm M, Owczarek-Lipska M, Neidhardt J. Swirski S, et al. Among authors: neidhardt j. Invest Ophthalmol Vis Sci. 2018 Jan 1;59(1):561-571. doi: 10.1167/iovs.17-22658. Invest Ophthalmol Vis Sci. 2018. PMID: 29372254 Free article.

8

Nanomolar Responsiveness of an Anaerobic Degradation Specialist to Alkylphenol Pollutants.

Vagts J, Weiten A, Scheve S, Kalvelage K, Swirski S, Wöhlbrand L, Neidhardt J, Winklhofer M, Rabus R. Vagts J, et al. Among authors: neidhardt j. J Bacteriol. 2020 Feb 11;202(5):e00595-19. doi: 10.1128/JB.00595-19. Print 2020 Feb 11. J Bacteriol. 2020. PMID: 31843798 Free PMC article.

9

Translational Read-Through Therapy of RPGR Nonsense Mutations.

Vössing C, Owczarek-Lipska M, Nagel-Wolfrum K, Reiff C, Jüschke C, Neidhardt J. Vössing C, et al. Among authors: neidhardt j. Int J Mol Sci. 2020 Nov 10;21(22):8418. doi: 10.3390/ijms21228418. Int J Mol Sci. 2020. PMID: 33182541 Free PMC article.

10

Dominant optic atrophy: Culprit mitochondria in the optic nerve.

Lenaers G, Neutzner A, Le Dantec Y, Jüschke C, Xiao T, Decembrini S, Swirski S, Kieninger S, Agca C, Kim US, Reynier P, Yu-Wai-Man P, Neidhardt J, Wissinger B. Lenaers G, et al. Among authors: neidhardt j. Prog Retin Eye Res. 2021 Jul;83:100935. doi: 10.1016/j.preteyeres.2020.100935. Epub 2020 Dec 17. Prog Retin Eye Res. 2021. PMID: 33340656 Free article. Review.

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