Neidhardt J - Search Results

1

Retrospective Natural History Study of RPGR-Related Cone- and Cone-Rod Dystrophies While Expanding the Mutation Spectrum of the Disease.

Nassisi M, De Bartolo G, Mohand-Said S, Condroyer C, Antonio A, Lancelot ME, Bujakowska K, Smirnov V, Pugliese T, Neidhardt J, Sahel JA, Zeitz C, Audo I. Nassisi M, et al. Among authors: neidhardt j. Int J Mol Sci. 2022 Jun 28;23(13):7189. doi: 10.3390/ijms23137189. Int J Mol Sci. 2022. PMID: 35806195 Free PMC article.

2

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.

3

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

4

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

5

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.

6

Spectrum of Disease Severity in Patients With X-Linked Retinitis Pigmentosa Due to RPGR Mutations.

Di Iorio V, Karali M, Melillo P, Testa F, Brunetti-Pierri R, Musacchia F, Condroyer C, Neidhardt J, Audo I, Zeitz C, Banfi S, Simonelli F. Di Iorio V, et al. Among authors: neidhardt j. Invest Ophthalmol Vis Sci. 2020 Dec 1;61(14):36. doi: 10.1167/iovs.61.14.36. Invest Ophthalmol Vis Sci. 2020. PMID: 33372982 Free PMC article.

7

The Major Ciliary Isoforms of RPGR Build Different Interaction Complexes with INPP5E and RPGRIP1L.

Vössing C, Atigbire P, Eilers J, Markus F, Stieger K, Song F, Neidhardt J. Vössing C, et al. Among authors: neidhardt j. Int J Mol Sci. 2021 Mar 30;22(7):3583. doi: 10.3390/ijms22073583. Int J Mol Sci. 2021. PMID: 33808286 Free PMC article.

8

Skewed X-inactivation is associated with retinal dystrophy in female carriers of RPGR mutations.

Usman M, Jüschke C, Song F, Kastrati D, Owczarek-Lipska M, Eilers J, Pauleikhoff L, Lange C, Neidhardt J. Usman M, et al. Among authors: neidhardt j. Life Sci Alliance. 2023 Aug 4;6(10):e202201814. doi: 10.26508/lsa.202201814. Print 2023 Oct. Life Sci Alliance. 2023. PMID: 37541846 Free PMC article.

9

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

10

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.

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