Neidhardt J - Search Results

1

Systematic expression analysis of plasticity-related genes in mouse brain development brings PRG4 into play.

Gross I, Tschigor T, Salman AL, Yang F, Luo J, Vonk D, Hipp MS, Neidhardt J, Bräuer AU. Gross I, et al. Among authors: neidhardt j. Dev Dyn. 2022 Apr;251(4):714-728. doi: 10.1002/dvdy.428. Epub 2021 Oct 16. Dev Dyn. 2022. PMID: 34622503 Free article.

2

A therapy with miglustat, 2-hydroxypropyl-ß-cyclodextrin and allopregnanolone restores splenic cholesterol homeostasis in Niemann-pick disease type C1.

Neßlauer AM, Gläser A, Gräler M, Engelmann R, Müller-Hilke B, Frank M, Burstein C, Rolfs A, Neidhardt J, Wree A, Witt M, Bräuer AU. Neßlauer AM, et al. Among authors: neidhardt j. Lipids Health Dis. 2019 Jun 28;18(1):146. doi: 10.1186/s12944-019-1088-2. Lipids Health Dis. 2019. PMID: 31248418 Free PMC article.

3

Combining Engineered U1 snRNA and Antisense Oligonucleotides to Improve the Treatment of a BBS1 Splice Site Mutation.

Breuel S, Vorm M, Bräuer AU, Owczarek-Lipska M, Neidhardt J. Breuel S, et al. Among authors: neidhardt j. Mol Ther Nucleic Acids. 2019 Dec 6;18:123-130. doi: 10.1016/j.omtn.2019.08.014. Epub 2019 Aug 16. Mol Ther Nucleic Acids. 2019. PMID: 31541798 Free PMC article.

4

Identification of Brain-Specific Treatment Effects in NPC1 Disease by Focusing on Cellular and Molecular Changes of Sphingosine-1-Phosphate Metabolism.

Gläser A, Hammerl F, Gräler MH, Coldewey SM, Völkner C, Frech MJ, Yang F, Luo J, Tönnies E, von Bohlen Und Halbach O, Brandt N, Heimes D, Neßlauer AM, Korenke GC, Owczarek-Lipska M, Neidhardt J, Rolfs A, Wree A, Witt M, Bräuer AU. Gläser A, et al. Among authors: neidhardt j. Int J Mol Sci. 2020 Jun 24;21(12):4502. doi: 10.3390/ijms21124502. Int J Mol Sci. 2020. PMID: 32599915 Free PMC article.

5

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.

6

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.

7

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.

8

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.

9

Novel mutations in the GJC2 gene associated with Pelizaeus-Merzbacher-like disease.

Owczarek-Lipska M, Mulahasanovic L, Obermaier CD, Hörtnagel K, Neubauer BA, Korenke GC, Biskup S, Neidhardt J. Owczarek-Lipska M, et al. Among authors: neidhardt j. Mol Biol Rep. 2019 Aug;46(4):4507-4516. doi: 10.1007/s11033-019-04906-4. Epub 2019 Jul 3. Mol Biol Rep. 2019. PMID: 31270756

10

Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome.

Courage C, Jackson CB, Owczarek-Lipska M, Jamsheer A, Sowińska-Seidler A, Piotrowicz M, Jakubowski L, Dallèves F, Riesch E, Neidhardt J, Lemke JR. Courage C, et al. Among authors: neidhardt j. Am J Med Genet A. 2019 Dec;179(12):2447-2453. doi: 10.1002/ajmg.a.61354. Epub 2019 Sep 11. Am J Med Genet A. 2019. PMID: 31512363

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