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Items: 1 to 50 of 162

1.

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.

J Bacteriol. 2020 Feb 11;202(5). pii: e00595-19. doi: 10.1128/JB.00595-19. Print 2020 Feb 11.

PMID:
31843798
2.

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.

Mol Ther Nucleic Acids. 2019 Dec 6;18:123-130. doi: 10.1016/j.omtn.2019.08.014. Epub 2019 Aug 16.

3.

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.

Am J Med Genet A. 2019 Dec;179(12):2447-2453. doi: 10.1002/ajmg.a.61354. Epub 2019 Sep 11.

PMID:
31512363
4.

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.

Mol Biol Rep. 2019 Aug;46(4):4507-4516. doi: 10.1007/s11033-019-04906-4. Epub 2019 Jul 3.

PMID:
31270756
5.

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.

Lipids Health Dis. 2019 Jun 28;18(1):146. doi: 10.1186/s12944-019-1088-2.

6.

Author Correction: Prior shared success predicts victory in team competitions.

Mukherjee S, Huang Y, Neidhardt J, Uzzi B, Contractor N.

Nat Hum Behav. 2019 Apr;3(4):406. doi: 10.1038/s41562-019-0581-y.

PMID:
30971800
7.

Prior shared success predicts victory in team competitions.

Mukherjee S, Huang Y, Neidhardt J, Uzzi B, Contractor N.

Nat Hum Behav. 2019 Jan;3(1):74-81. doi: 10.1038/s41562-018-0460-y. Epub 2018 Dec 3. Erratum in: Nat Hum Behav. 2019 Apr;3(4):406.

8.

Toward genome editing in X-linked RP-development of a mouse model with specific treatment relevant features.

Schlegel J, Hoffmann J, Röll D, Müller B, Günther S, Zhang W, Janise A, Vössing C, Fühler B, Neidhardt J, Khanna H, Lorenz B, Stieger K.

Transl Res. 2019 Jan;203:57-72. doi: 10.1016/j.trsl.2018.08.006. Epub 2018 Aug 24.

9.

Antisense Oligonucleotide-Based Splicing Correction in Individuals with Leber Congenital Amaurosis due to Compound Heterozygosity for the c.2991+1655A>G Mutation in CEP290.

Duijkers L, van den Born LI, Neidhardt J, Bax NM, Pierrache LHM, Klevering BJ, Collin RWJ, Garanto A.

Int J Mol Sci. 2018 Mar 7;19(3). pii: E753. doi: 10.3390/ijms19030753.

10.

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.

Invest Ophthalmol Vis Sci. 2018 Jan 1;59(1):561-571. doi: 10.1167/iovs.17-22658.

11.

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.

Sci Rep. 2016 Nov 4;6:36208. doi: 10.1038/srep36208.

12.

A Novel Method Combining Vitreous Aspiration and Intravitreal AAV2/8 Injection Results in Retina-Wide Transduction in Adult Mice.

Da Costa R, Röger C, Segelken J, Barben M, Grimm C, Neidhardt J.

Invest Ophthalmol Vis Sci. 2016 Oct 1;57(13):5326-5334. doi: 10.1167/iovs.16-19701.

13.

Identification of Novel and Recurrent Disease-Causing Mutations in Retinal Dystrophies Using Whole Exome Sequencing (WES): Benefits and Limitations.

Tiwari A, Lemke J, Altmueller J, Thiele H, Glaus E, Fleischhauer J, Nürnberg P, Neidhardt J, Berger W.

PLoS One. 2016 Jul 8;11(7):e0158692. doi: 10.1371/journal.pone.0158692. eCollection 2016.

14.

Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.

Tiwari A, Bahr A, Bähr L, Fleischhauer J, Zinkernagel MS, Winkler N, Barthelmes D, Berger L, Gerth-Kahlert C, Neidhardt J, Berger W.

Sci Rep. 2016 Jun 29;6:28755. doi: 10.1038/srep28755.

15.

[The daily life of patients at the Hôtel-Dieu in Lyon in the nineteenth century].

Bel JC, Feireisen M, Fessy MH, Broussolle C, Neidhardt JP, Ferrandis JJ.

Hist Sci Med. 2015 Apr-Jun;49(2):197-208. French.

PMID:
26492675
16.

[The fate of the wood of the Fabrica of 1543].

Chevallier J, Neidhardt JC.

Hist Sci Med. 2014 Oct-Dec;48(4):485-93. French.

PMID:
25962216
17.

Localizing the RPGR protein along the cilium: a new method to determine efficacies to treat RPGR mutations.

Da Costa R, Glaus E, Tiwari A, Kloeckener-Gruissem B, Berger W, Neidhardt J.

Gene Ther. 2015 May;22(5):413-20. doi: 10.1038/gt.2014.128. Epub 2015 Jan 29.

PMID:
25630948
18.

Homozygosity mapping and whole exome sequencing reveal a novel homozygous COL18A1 mutation causing Knobloch syndrome.

Haghighi A, Tiwari A, Piri N, Nürnberg G, Saleh-Gohari N, Haghighi A, Neidhardt J, Nürnberg P, Berger W.

PLoS One. 2014 Nov 13;9(11):e112747. doi: 10.1371/journal.pone.0112747. eCollection 2014.

19.

GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy.

Lemke JR, Hendrickx R, Geider K, Laube B, Schwake M, Harvey RJ, James VM, Pepler A, Steiner I, Hörtnagel K, Neidhardt J, Ruf S, Wolff M, Bartholdi D, Caraballo R, Platzer K, Suls A, De Jonghe P, Biskup S, Weckhuysen S.

Ann Neurol. 2014 Jan;75(1):147-54. doi: 10.1002/ana.24073. Epub 2014 Jan 2.

20.

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.

Eur J Hum Genet. 2014 Jan;22(1):99-104. doi: 10.1038/ejhg.2013.72. Epub 2013 Apr 17.

21.

The cataract and glucosuria associated monocarboxylate transporter MCT12 is a new creatine transporter.

Abplanalp J, Laczko E, Philp NJ, Neidhardt J, Zuercher J, Braun P, Schorderet DF, Munier FL, Verrey F, Berger W, Camargo SM, Kloeckener-Gruissem B.

Hum Mol Genet. 2013 Aug 15;22(16):3218-26. doi: 10.1093/hmg/ddt175. Epub 2013 Apr 10.

22.

A gene therapeutic approach to correct splice defects with modified U1 and U6 snRNPs.

Schmid F, Hiller T, Korner G, Glaus E, Berger W, Neidhardt J.

Hum Gene Ther. 2013 Jan;24(1):97-104. doi: 10.1089/hum.2012.110. Epub 2012 Nov 23.

23.

Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome.

Kloeckener-Gruissem B, Neidhardt J, Magyar I, Plauchu H, Zech JC, Morlé L, Palmer-Smith SM, Macdonald MJ, Nas V, Fry AE, Berger W.

Eur J Hum Genet. 2013 Mar;21(3):352-6. doi: 10.1038/ejhg.2012.137. Epub 2012 Jun 27.

24.

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.

Hum Mutat. 2011 Jul;32(7):815-24. doi: 10.1002/humu.21509.

PMID:
21520335
25.

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.

Mol Ther. 2011 May;19(5):936-41. doi: 10.1038/mt.2011.7. Epub 2011 Feb 15.

26.

The molecular basis of human retinal and vitreoretinal diseases.

Berger W, Kloeckener-Gruissem B, Neidhardt J.

Prog Retin Eye Res. 2010 Sep;29(5):335-75. doi: 10.1016/j.preteyeres.2010.03.004. Epub 2010 Mar 31. Review.

PMID:
20362068
27.

ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype.

Poloschek CM, Bach M, Lagrèze WA, Glaus E, Lemke JR, Berger W, Neidhardt J.

Invest Ophthalmol Vis Sci. 2010 Aug;51(8):4253-65. doi: 10.1167/iovs.09-4655. Epub 2010 Mar 24.

28.

Alterations of the 5'untranslated region of SLC16A12 lead to age-related cataract.

Zuercher J, Neidhardt J, Magyar I, Labs S, Moore AT, Tanner FC, Waseem N, Schorderet DF, Munier FL, Bhattacharya S, Berger W, Kloeckener-Gruissem B.

Invest Ophthalmol Vis Sci. 2010 Jul;51(7):3354-61. doi: 10.1167/iovs.10-5193. Epub 2010 Feb 24.

29.

Short DNA sequences inserted for gene targeting can accidentally interfere with off-target gene expression.

Meier ID, Bernreuther C, Tilling T, Neidhardt J, Wong YW, Schulze C, Streichert T, Schachner M.

FASEB J. 2010 Jun;24(6):1714-24. doi: 10.1096/fj.09-140749. Epub 2010 Jan 28.

PMID:
20110269
30.

Cone versus rod disease in a mutant Rpgr mouse caused by different genetic backgrounds.

Brunner S, Skosyrski S, Kirschner-Schwabe R, Knobeloch KP, Neidhardt J, Feil S, Glaus E, Luhmann UF, Rüther K, Berger W.

Invest Ophthalmol Vis Sci. 2010 Feb;51(2):1106-15. doi: 10.1167/iovs.08-2742. Epub 2009 Dec 10.

31.

Mutation- and tissue-specific alterations of RPGR transcripts.

Schmid F, Glaus E, Cremers FP, Kloeckener-Gruissem B, Berger W, Neidhardt J.

Invest Ophthalmol Vis Sci. 2010 Mar;51(3):1628-35. doi: 10.1167/iovs.09-4031. Epub 2009 Oct 15.

PMID:
19834030
32.

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.

Hum Mutat. 2009 Feb;30(2):255-63. doi: 10.1002/humu.20861. Erratum in: Hum Mutat. 2009 Feb;30(2):274.

PMID:
18837008
33.

Overexpression of RPGR leads to male infertility in mice due to defects in flagellar assembly.

Brunner S, Colman D, Travis AJ, Luhmann UF, Shi W, Feil S, Imsand C, Nelson J, Grimm C, Rülicke T, Fundele R, Neidhardt J, Berger W.

Biol Reprod. 2008 Oct;79(4):608-17. doi: 10.1095/biolreprod.107.067454. Epub 2008 Jun 25.

PMID:
18579752
34.

Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing.

Neidhardt J, Glaus E, Lorenz B, Netzer C, Li Y, Schambeck M, Wittmer M, Feil S, Kirschner-Schwabe R, Rosenberg T, Cremers FP, Bergen AA, Barthelmes D, Baraki H, Schmid F, Tanner G, Fleischhauer J, Orth U, Becker C, Wegscheider E, Nürnberg G, Nürnberg P, Bolz HJ, Gal A, Berger W.

Mol Vis. 2008 Jun 6;14:1081-93.

35.

Vascular changes in the cerebellum of Norrin /Ndph knockout mice correlate with high expression of Norrin and Frizzled-4.

Luhmann UF, Neidhardt J, Kloeckener-Gruissem B, Schäfer NF, Glaus E, Feil S, Berger W.

Eur J Neurosci. 2008 May;27(10):2619-28. doi: 10.1111/j.1460-9568.2008.06237.x.

PMID:
18547247
36.

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.

Invest Ophthalmol Vis Sci. 2008 Sep;49(9):4105-14. doi: 10.1167/iovs.08-1717. Epub 2008 May 16.

PMID:
18487375
37.

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.

Am J Hum Genet. 2008 Mar;82(3):772-9. doi: 10.1016/j.ajhg.2007.12.013. Epub 2008 Feb 14.

38.

Semi-quantitative chemical analysis of hard coatings by Raman micro-spectroscopy: the aluminium chromium nitride system as an example.

Kaindl R, Sartory B, Neidhardt J, Franz R, Reiter A, Polcik P, Tessadri R, Mitterer C.

Anal Bioanal Chem. 2007 Nov;389(5):1569-76. Epub 2007 Oct 12.

PMID:
17932660
39.

Identification and characterization of a novel RPGR isoform in human retina.

Neidhardt J, Glaus E, Barthelmes D, Zeitz C, Fleischhauer J, Berger W.

Hum Mutat. 2007 Aug;28(8):797-807.

PMID:
17405150
40.

Night blindness-associated mutations in the ligand-binding, cysteine-rich, and intracellular domains of the metabotropic glutamate receptor 6 abolish protein trafficking.

Zeitz C, Forster U, Neidhardt J, Feil S, Kälin S, Leifert D, Flor PJ, Berger W.

Hum Mutat. 2007 Aug;28(8):771-80.

PMID:
17405131
41.

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.

Am J Hum Genet. 2006 Nov;79(5):973-7. Epub 2006 Sep 27.

42.

Structural and functional abnormalities of retinal ribbon synapses due to Cacna2d4 mutation.

Wycisk KA, Budde B, Feil S, Skosyrski S, Buzzi F, Neidhardt J, Glaus E, Nürnberg P, Ruether K, Berger W.

Invest Ophthalmol Vis Sci. 2006 Aug;47(8):3523-30.

PMID:
16877424
43.

Different amino acid substitutions at the same position in rhodopsin lead to distinct phenotypes.

Neidhardt J, Barthelmes D, Farahmand F, Fleischhauer JC, Berger W.

Invest Ophthalmol Vis Sci. 2006 Apr;47(4):1630-5.

PMID:
16565402
44.

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.

Invest Ophthalmol Vis Sci. 2005 Nov;46(11):4328-35.

PMID:
16249515
45.

[Viral and nonviral gene therapy for treatment of retinal diseases].

Neidhardt J, Wycisk K, Klöckener-Gruissem B.

Ophthalmologe. 2005 Aug;102(8):764-71. Review. German.

PMID:
16012813
46.

Tenascin-N: characterization of a novel member of the tenascin family that mediates neurite repulsion from hippocampal explants.

Neidhardt J, Fehr S, Kutsche M, Löhler J, Schachner M.

Mol Cell Neurosci. 2003 Jun;23(2):193-209.

PMID:
12812753
47.

Imaging of fullerene-like structures in CNx thin films by electron microscopy; sample preparation artefacts due to ion-beam milling.

Czigány Z, Neidhardt J, Brunell IF, Hultman L.

Ultramicroscopy. 2003 Apr;94(3-4):163-73.

PMID:
12524186
48.

Cross-linked nano-onions of carbon nitride in the solid phase: existence of a novel C(48)N(12) aza-fullerene.

Hultman L, Stafström S, Czigány Z, Neidhardt J, Hellgren N, Brunell IF, Suenaga K, Colliex C.

Phys Rev Lett. 2001 Nov 26;87(22):225503. Epub 2001 Nov 12.

PMID:
11736407
49.

A new case of congenital cyst of the pancreas.

Caillot JL, Rongieras F, Voiglio E, Isaac S, Neidhardt JP.

Hepatogastroenterology. 2000 Jul-Aug;47(34):916-8.

PMID:
11020847
50.

Review and evaluation of anatomy sites on the Internet (updated 1999).

Frasca D, Malezieux R, Mertens P, Neidhardt JP, Voiglio EJ.

Surg Radiol Anat. 2000;22(2):107-10.

PMID:
10959677

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