Publications by authors named "John Neidhardt"

43Publications

Translational Read-Through Therapy of Nonsense Mutations.

Int J Mol Sci 2020 Nov 10;21(22). Epub 2020 Nov 10.

Human Genetics, Faculty of Medicine and Health Sciences, University of Oldenburg, 26129 Oldenburg, Germany.

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http://dx.doi.org/10.3390/ijms21228418DOI Listing
November 2020

A Novel de novo Frameshift Mutation in the Gene in a Patient with Intellectual Disability Syndrome and Epilepsy.

Mol Syndromol 2020 Jul 13;11(3):135-140. Epub 2020 Jun 13.

Human Genetics, Faculty VI - School of Medicine and Health Sciences, University of Oldenburg, Oldenburg, Germany.

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http://dx.doi.org/10.1159/000508566DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7445578PMC
July 2020

Rare variants in the GABA receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes.

Mol Genet Genomic Med 2020 09 25;8(9):e1388. Epub 2020 Jun 25.

Junior Research Group, Genetics of Childhood Brain Malformations, Faculty VI-School of Medicine and Health Sciences, University of Oldenburg, Oldenburg, Germany.

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http://dx.doi.org/10.1002/mgg3.1388DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7507344PMC
September 2020

Compound heterozygous RPE65 mutations associated with an early onset autosomal recessive retinitis pigmentosa.

J Gene Med 2020 Oct 20;22(10):e3211. Epub 2020 Jun 20.

Human Genetics, Faculty VI - School of Medicine and Health Sciences, University of Oldenburg, Oldenburg, Germany.

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http://dx.doi.org/10.1002/jgm.3211DOI Listing
October 2020

Nanomolar Responsiveness of an Anaerobic Degradation Specialist to Alkylphenol Pollutants.

J Bacteriol 2020 02 11;202(5). Epub 2020 Feb 11.

General and Molecular Microbiology, Institute for Chemistry and Biology of the Marine Environment (ICBM), Carl von Ossietzky University of Oldenburg, Oldenburg, Germany

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http://dx.doi.org/10.1128/JB.00595-19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7015708PMC
February 2020

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

Mol Ther Nucleic Acids 2019 Dec 16;18:123-130. Epub 2019 Aug 16.

Human Genetics, Faculty of Medicine and Health Sciences, University of Oldenburg, Oldenburg, Germany; Research Center Neurosensory Science, University of Oldenburg, Germany; Joint research training group of the Faculty of Medicine and Health Sciences, University of Oldenburg, Germany and the University Medical Center Groningen, Groningen, Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.omtn.2019.08.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6796732PMC
December 2019

Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome.

Am J Med Genet A 2019 12 11;179(12):2447-2453. Epub 2019 Sep 11.

Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.

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http://dx.doi.org/10.1002/ajmg.a.61354DOI Listing
December 2019

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

Mol Biol Rep 2019 Aug 3;46(4):4507-4516. Epub 2019 Jul 3.

Human Genetics, Faculty of Medicine and Health Sciences, University of Oldenburg, Ammerländer Heerstr. 114-118, 26129, Oldenburg, Germany.

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http://dx.doi.org/10.1007/s11033-019-04906-4DOI Listing
August 2019

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

Invest Ophthalmol Vis Sci 2016 Oct;57(13):5326-5334

Institute of Human Genetics, Faculty of Medicine and Health Sciences, University of Oldenburg, Oldenburg, Germany 6Research Center Neurosensory Science, University Oldenburg, Oldenburg, Germany.

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http://dx.doi.org/10.1167/iovs.16-19701DOI Listing
October 2016

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

PLoS One 2014 13;9(11):e112747. Epub 2014 Nov 13.

Institute of Medical Molecular Genetics, University of Zurich Wagistrasse 12, CH-8952 Schlieren, Switzerland; Zurich Center for Integrative Human Physiology (ZIHP), University of Zurich, Zurich, Switzerland; Neuroscience Center Zurich (ZNZ), University and ETH Zurich, Zurich, Switzerland.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0112747PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4231049PMC
July 2015

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

Hum Gene Ther 2013 Jan 23;24(1):97-104. Epub 2012 Nov 23.

Institute of Medical Molecular Genetics, University of Zurich, 8603 Schwerzenbach, Switzerland.

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http://www.zora.uzh.ch/77022/1/A_gene_therapeutic_approach_t
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http://online.liebertpub.com/doi/abs/10.1089/hum.2012.110
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http://dx.doi.org/10.1089/hum.2012.110DOI Listing
January 2013

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

Hum Mutat 2011 Jul;32(7):815-24

University of Zurich, Institute of Medical Molecular Genetics, Schorenstrasse 16, Schwerzenbach, Switzerland.

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http://dx.doi.org/10.1002/humu.21509DOI Listing
July 2011

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

Mol Ther 2011 May 15;19(5):936-41. Epub 2011 Feb 15.

Institute of Medical Molecular Genetics, University of Zurich, Zurich, Switzerland.

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http://dx.doi.org/10.1038/mt.2011.7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3098652PMC
May 2011

The molecular basis of human retinal and vitreoretinal diseases.

Prog Retin Eye Res 2010 Sep 31;29(5):335-75. Epub 2010 Mar 31.

Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Schorenstrasse 16, CH-8603 Schwerzenbach, Switzerland.

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https://linkinghub.elsevier.com/retrieve/pii/S13509462100002
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http://dx.doi.org/10.1016/j.preteyeres.2010.03.004DOI Listing
September 2010

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

Invest Ophthalmol Vis Sci 2010 Aug 24;51(8):4253-65. Epub 2010 Mar 24.

Department of Ophthalmology, University of Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.1167/iovs.09-4655DOI Listing
August 2010

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

Invest Ophthalmol Vis Sci 2010 Jul 24;51(7):3354-61. Epub 2010 Feb 24.

Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.

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http://dx.doi.org/10.1167/iovs.10-5193DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2904002PMC
July 2010

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

FASEB J 2010 Jun 28;24(6):1714-24. Epub 2010 Jan 28.

Center for Molecular Neurobiology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

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http://www.fasebj.org/doi/10.1096/fj.09-140749
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http://dx.doi.org/10.1096/fj.09-140749DOI Listing
June 2010

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

Invest Ophthalmol Vis Sci 2010 Feb 10;51(2):1106-15. Epub 2009 Dec 10.

Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Schwerzenbach, Switzerland.

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http://dx.doi.org/10.1167/iovs.08-2742DOI Listing
February 2010

Mutation- and tissue-specific alterations of RPGR transcripts.

Invest Ophthalmol Vis Sci 2010 Mar 15;51(3):1628-35. Epub 2009 Oct 15.

Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.

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http://dx.doi.org/10.1167/iovs.09-4031DOI Listing
March 2010

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

Hum Mutat 2009 Feb;30(2):255-63

Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Schwerzenbach, Switzerland.

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http://dx.doi.org/10.1002/humu.20861DOI Listing
February 2009

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

Biol Reprod 2008 Oct 25;79(4):608-17. Epub 2008 Jun 25.

Division of Medical Molecular Genetics and Gene Diagnostics, Institute for Medical Genetics, University of Zurich, 8603 Schwerzenbach, Switzerland.

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http://dx.doi.org/10.1095/biolreprod.107.067454DOI Listing
October 2008

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

Eur J Neurosci 2008 May;27(10):2619-28

Division of Medical Molecular Genetics & Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Schorenstrasse 16, CH-8603 Schwerzenbach, Switzerland.

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http://doi.wiley.com/10.1111/j.1460-9568.2008.06237.x
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http://dx.doi.org/10.1111/j.1460-9568.2008.06237.xDOI Listing
May 2008

Identification and functional characterization of a novel rhodopsin mutation associated with autosomal dominant CSNB.

Invest Ophthalmol Vis Sci 2008 Sep 16;49(9):4105-14. Epub 2008 May 16.

Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.

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http://dx.doi.org/10.1167/iovs.08-1717DOI Listing
September 2008

Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria.

Am J Hum Genet 2008 Mar 14;82(3):772-9. Epub 2008 Feb 14.

Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University Zurich, CH-8603 Schwerzenbach, Switzerland.

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http://dx.doi.org/10.1016/j.ajhg.2007.12.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2427214PMC
March 2008

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

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

Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.

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http://dx.doi.org/10.1002/humu.20521DOI Listing
August 2007

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

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

Institute of Medical Genetics, Division of Medical Molecular Genetics and Gene Diagnostics, University of Zurich, Zurich, Switzerland.

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http://dx.doi.org/10.1002/humu.20499DOI Listing
August 2007

Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy.

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

Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Schwerzenbach, Switzerland.

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http://dx.doi.org/10.1086/508944DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1698577PMC
November 2006

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

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

Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Schwerzenbach, Switzerland.

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http://dx.doi.org/10.1167/iovs.06-0271DOI Listing
August 2006

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

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

University of Zurich, Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, Schwerzenbach, Switzerland.

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http://dx.doi.org/10.1167/iovs.05-1317DOI Listing
April 2006

Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram.

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

Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Schwerzenbach, Switzerland.

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http://dx.doi.org/10.1167/iovs.05-0526DOI Listing
November 2005

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

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

Zentrum für Molekulare Neurobiologie, Universität Hamburg, Martinistrasse 52, D-20246, Hamburg, Germany.

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http://dx.doi.org/10.1016/s1044-7431(03)00012-5DOI Listing
June 2003