J. Neidhardt

发表

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

E. Zrenner, W. Berger, M. Schubach, 2013, European Journal of Human Genetics.

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

Christina Zeitz, S. Feil, W. Berger, 2007, Human mutation.

GRIN2B Mutations in West Syndrome and Intellectual Disability with Focal Epilepsy

Markus Wolff, Saskia Biskup, M. Schwake, 2014, Annals of neurology.

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

W. Berger, E. Laczko, D. Schorderet, 2013, Human molecular genetics.

A novel missense variant in the EML1 gene associated with bilateral ribbon-like subcortical heterotopia leads to ciliary defects

A. Scholten, J. Neidhardt, G. Korenke, 2021, Journal of Human Genetics.

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

B. J. Klevering, L. I. van den Born, R. Collin, 2018, International journal of molecular sciences.

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

W. Berger, G. Nürnberg, P. Nürnberg, 2008, American journal of human genetics.

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

S. Feil, W. Berger, U. Luhmann, 2008, The European journal of neuroscience.

A Novel de novo Frameshift Mutation in the BCL11A Gene in a Patient with Intellectual Disability Syndrome and Epilepsy

S. Biskup, J. Neidhardt, G. Korenke, 2020, Molecular Syndromology.

High-Throughput Sequencing to Identify Mutations Associated with Retinal Dystrophies

S. Schrader, M. Menghini, J. Neidhardt, 2021, Genes.

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

M. Frech, O. von Bohlen und Halbach, A. Rolfs, 2020, International journal of molecular sciences.

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

P. Melillo, S. Banfi, I. Audo, 2020, Investigative ophthalmology & visual science.

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

J. Sahel, S. Mohand-Said, I. Audo, 2022, International journal of molecular sciences.

A TARP Syndrome Phenotype Is Associated with a Novel Splicing Variant in RBM10

J. Neidhardt, G. Korenke, E. Bültmann, 2022, Genes.

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

M. Hipp, A. Bräuer, J. Neidhardt, 2021, Developmental dynamics : an official publication of the American Association of Anatomists.

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

F. Riemslag, F. Cremers, W. Berger, 2005, Investigative ophthalmology & visual science.

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

G. Fischer, J. Neidhardt, Sebastian Swirski, 2018, Investigative ophthalmology & visual science.

Cornea A Novel C-Terminal Mutation in Gsdma 3 ( C þ / H ) Leads to Alopecia and Corneal Inflammatory Response in Mice

G. Fischer, J. Neidhardt, Sebastian Swirski, 2018 .

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

A. Rolfs, A. Bräuer, A. Wree, 2019, Lipids in Health and Disease.

The molecular basis of human retinal and vitreoretinal diseases

W. Berger, J. Neidhardt, B. Kloeckener‐Gruissem, 2010, Progress in Retinal and Eye Research.

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

M. Schachner, T. Streichert, C. Schulze, 2010, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

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

W. Berger, E. Glaus, J. Neidhardt, 2013, Human gene therapy.

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

H. Omran, W. Berger, G. Nürnberg, 2011, Human mutation.

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

W. Berger, E. Glaus, J. Neidhardt, 2011, Molecular therapy : the journal of the American Society of Gene Therapy.

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

W. Berger, A. K. Gross, J. Lemke, 2008, Investigative ophthalmology & visual science.

Autosomal dominant optic atrophy: A novel treatment for OPA1 splice defects using U1 snRNA adaption

T. Klopstock, B. Wissinger, C. Catarino, 2021, Molecular therapy. Nucleic acids.

Dominant optic atrophy: Culprit mitochondria in the optic nerve

P. Yu-Wai-Man, G. Lenaers, P. Reynier, 2020, Progress in Retinal and Eye Research.

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

W. Berger, P. Nürnberg, H. Thiele, 2016, PloS one.

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

W. Berger, C. Gerth-Kahlert, L. Berger, 2016, Scientific Reports.

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

W. Berger, F. Pagani, E. Glaus, 2009, Human mutation.

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

E. Zrenner, S. Feil, W. Berger, 2006, American journal of human genetics.

Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome

J. Lemke, J. Neidhardt, L. Jakubowski, 2019, American journal of medical genetics. Part A.

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

M. Bach, W. Berger, W. Lagrèze, 2010, Investigative ophthalmology & visual science.

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.

J. Gécz, W. Chung, H. Hakonarson, 2021, American journal of human genetics.

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

A. Bräuer, J. Neidhardt, M. Owczarek-Lipska, 2019, Molecular therapy. Nucleic acids.

Mutation- and tissue-specific alterations of RPGR transcripts.

F. Cremers, W. Berger, E. Glaus, 2010, Investigative ophthalmology & visual science.

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

P. Nürnberg, J. Altmüller, H. Thiele, 2016, Scientific Reports.

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

K. Stieger, J. Neidhardt, Paul Atigbire, 2021, International journal of molecular sciences.

Identification and characterization of a novel RPGR isoform in human retina

W. Berger, E. Glaus, J. Neidhardt, 2007, Human mutation.

Nanomolar Responsiveness of an Anaerobic Degradation Specialist to Alkylphenol Pollutants

R. Rabus, Lars Wöhlbrand, M. Winklhofer, 2019, Journal of bacteriology.

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

Peter Nürnberg, S. Feil, W. Berger, 2006, Investigative ophthalmology & visual science.

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

J. Neidhardt, V. Jakšić, M. Owczarek-Lipska, 2020, The journal of gene medicine.

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

R. Abou Jamra, M. V. van Slegtenhorst, C. Goizet, 2020, Molecular genetics & genomic medicine.

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

B. Lorenz, T. Rosenberg, S. Feil, 2008, Molecular vision.

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

B. Neubauer, S. Biskup, J. Neidhardt, 2019, Molecular Biology Reports.

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

W. Berger, J. Neidhardt, D. Barthelmes, 2006, Investigative ophthalmology & visual science.

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

M. Schachner, J. Löhler, J. Neidhardt, 2003, Molecular and Cellular Neuroscience.

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

W. Berger, E. Glaus, J. Neidhardt, 2015, Gene Therapy.

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

C. Grimm, J. Neidhardt, J. Segelken, 2016, Investigative ophthalmology & visual science.

Homozygosity Mapping and Whole Exome Sequencing Reveal a Novel Homozygous COL18A1 Mutation Causing Knobloch Syndrome

W. Berger, G. Nürnberg, P. Nürnberg, 2014, PloS one.

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

W. Berger, A. Fry, J. Zech, 2012, European Journal of Human Genetics.

Overexpression of RPGR Leads to Male Infertility in Mice Due to Defects in Flagellar Assembly1

C. Grimm, S. Feil, W. Berger, 2008, Biology of reproduction.

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

W. Berger, S. Bhattacharya, A. Moore, 2010, Investigative ophthalmology & visual science.

Alterations of the 5 ’ untranslated leader region of SLC 16 A 12 lead to age-related cataract

W. Berger, S. Bhattacharya, A. Moore, 2010 .

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

Malte T. Ahlers, M. Greschner, B. Wissinger, 2023, Cells.

Translational Read-Through Therapy of RPGR Nonsense Mutations

K. Nagel-Wolfrum, J. Neidhardt, Charlotte M. Reiff, 2020, International journal of molecular sciences.

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

B. Lorenz, H. Khanna, S. Günther, 2019, Translational research : the journal of laboratory and clinical medicine.

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

K. Knobeloch, S. Feil, W. Berger, 2010, Investigative ophthalmology & visual science.

mRNA splicing is modulated by intronic microRNAs

N. Shomron, Luba Farberov, J. Neidhardt, 2023, iScience.

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

S. Feil, W. Berger, U. Luhmann, 2008, The European journal of neuroscience.

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

J. Neidhardt, C. Lange, Christoph Jüschke, 2023, Life Science Alliance.