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ARVO Annual Meeting Abstract June 2023

Skewed X-chromosomal inactivation causes ciliary mis-localization of RPGR and retinal dystrophies in female carriers of RPGR mutations.

John Neidhardt; Muhammad Usman; Fei Song; Jannis Eilers; Dennis Kastrati; Heymut Omran; Laurenz Pauleikhoff; Clemens Lange

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):398.

ARVO Annual Meeting Abstract June 2022

Genotype-phenotype correlation and disease modeling in RPGR -related cone and cone-rod dystrophies.

Marco Nassisi; Giuseppe De Bartolo; Saddek Mohand-Said; Christel Condroyer; Aline Antonio; Marie-Elise Lancelot; Kinga Maria Bujakowska; Vasily M. SMIRNOV; Thomas Pugliese; John Neidhardt; Jose Alain Sahel; Christina Zeitz; Isabelle S Audo

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):138 – A0318.

Retina December 2020

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

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Valentina Di Iorio; Marianthi Karali; Paolo Melillo; Francesco Testa; Raffaella Brunetti-Pierri; Francesco Musacchia; Christel Condroyer; John Neidhardt; Isabelle Audo; Christina Zeitz; Sandro Banfi; Francesca Simonelli

Invest. Ophthalmol. Vis. Sci.. 2020; 61(14):36. https://doi.org/10.1167/iovs.61.14.36

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2020

A novel treatment of OPA1 splice defects by U1 snRNA adaptions in a DOA mouse model and patient-derived cells

Christoph Jüschke; Sebastian Swirski; Thomas Klopstock klopstock; Bernd Wissinger; John Per Neidhardt

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):1916.

ARVO Annual Meeting Abstract July 2019

Treatment of a BBS1 splice site mutation applying a combination of designed U1snRNA and antisense oligonucleotides.

John Per Neidhardt; Mariann Vorm; Anja Bräuer; Saskia Breuel

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):3403.

ARVO Annual Meeting Abstract July 2019

DNA sequence alterations at the ISce-I target site in vivo in photoreceptors and RPE cells following AAV mediated gene transfer

Knut Stieger; Annabella Janise-Libawski; Götzmann David; Vössing Christiane; Fühler Bärbel; John Per Neidhardt; Birgit Lorenz; Brigitte Müller

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4936.

ARVO Annual Meeting Abstract July 2018

A novel mouse model carrying a mutation in Gsdma3 resembles late stage Evaporative Dry Eye (EDE) disease and presents with alopecia and corneal inflammation.

John Per Neidhardt; Carsten Röger; Aldona Pienkowska-Schelling; Cynthia Ihlenburg; Gösta Fischer; Oliver May; Mariann Vorm; Marta Owczarek-Lipska; Sebastian Swirski

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):2275.

Cornea January 2018

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

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Sebastian Swirski; Carsten Röger; Aldona Pieńkowska-Schelling; Cynthia Ihlenburg; Gösta Fischer; Oliver May; Mariann Vorm; Marta Owczarek-Lipska; John Neidhardt
TAGS: alopecia, cornea, mice, mutation, meibomian gland, skin, inflammatory response, phenotype
Invest. Ophthalmol. Vis. Sci.. 2018; 59(1):561-571. https://doi.org/10.1167/iovs.17-22658

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2017

Whole exome sequencing towards a rapid identification of genetic variants associated with congenital nystagmus.

Marta Owczarek-Lipska; Christoph Jüschke; Lejla Mulahasanovic; Konstanze Hörtnagel; Saskia Biskup; Tobias Linden; Christoph G. Korenke; John Per Neidhardt

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2785.

Genetics October 2016

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

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Romain Da Costa; Carsten Röger; Jasmin Segelken; Maya Barben; Christian Grimm; John Neidhardt
TAGS: endotracheal aspiration, injections, mice, pulmonary aspiration, retina, vitreous body, aspirations (psychology), inspiration, eye, intravitreal injections
Invest. Ophthalmol. Vis. Sci.. 2016; 57(13):5326-5334. https://doi.org/10.1167/iovs.16-19701

Includes: Supplemental Content

ARVO Annual Meeting Abstract September 2016

Retina-wide AAV-transduction in mice: A novel method combining vitrectomy and intravitreal injection

John Neidhardt; Carsten Roeger; Jasmin Segelken; Romain Da Costa

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):755.

ARVO Annual Meeting Abstract September 2016

Two distinct phenotypes in the same family are caused by the Schiff base counterion mutation p.E113K in rhodopsin.

Marta Owczarek-Lipska; Charlotte Reiff; Georg Spital; Carsten Roeger; Hebke Hinz; Christoph Jüschke; Holger Thiele; Janine Altmüller; Peter Nürnberg; Romain Da Costa; John Neidhardt

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):3141.

ARVO Annual Meeting Abstract June 2015

A new method to determine efficacies to treat RPGR mutations: Quantification of RPGR transport along the primary cilium in patient-derived cells

Christoph Jüschke; Romain Da Costa; Esther Glaus; Amit Tiwari; Barbara Kloeckener-Gruissem; Wolfgang Berger; John Neidhardt

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):2062.

ARVO Annual Meeting Abstract June 2015

The importance of Sanger sequencing of exon ORF15 of RPGR at the time of next-generation sequencing

Christina Zeitz; Kinga Maria Bujakowska; John Neidhardt; Said El Shamieh; Jose Alain Sahel; Isabelle S Audo

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):2599.

ARVO Annual Meeting Abstract June 2013

Highly efficient genetic diagnostic testing in patients with inherited retinal dystrophies using Panel-based Next Generation Sequencing

Nicola Gloeckle; Susanne Kohl; Julia Mohr; Tim Scheurenbrand; Andrea Sprecher; Saskia Biskup; Wolfgang Berger; Bernd Wissinger; John Neidhardt

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):3369.

ARVO Annual Meeting Abstract June 2013

Identification of the substrate and characterization of transport properties for the cataract associated monocarboxylate transporter MCT12

Barbara Kloeckener-Gruissem; Nancy Philp; Jeannette Abplanalp; Simone Camargo; Daniel Schorderet; Francis Munier; John Neidhardt; François Verrey; Endre Laczko; Wolfgang Berger

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):3683.

ARVO Annual Meeting Abstract April 2011

Gene Therapy To Rescue Splice Defects In Eye Diseases Using U1 snRNA

John Neidhardt; Fabian Schmid; Esther Glaus; Romain Da Costa; Wolfgang Berger

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):485.

ARVO Annual Meeting Abstract April 2011

Next Generation Genetic Testing And Candidate Gene Analysis In Retinal Diseases

Wolfgang Berger; Detlev Boehm; Saskia Biskup; Susanne Kohl; Simone Schimpf-Linzenbold; Bernd Wissinger; John Neidhardt

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):1829.

Retina August 2010

ABCA4 and ROM1: Implications for Modification of the PRPH2 -Associated Macular Dystrophy Phenotype

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Charlotte M. Poloschek; Michael Bach; Wolf A. Lagrèze; Esther Glaus; Johannes R. Lemke; Wolfgang Berger; John Neidhardt
TAGS: family, macular dystrophy, mutation, phenotype, retinitis pigmentosa
Invest. Ophthalmol. Vis. Sci.. 2010; 51(8):4253-4265. https://doi.org/10.1167/iovs.09-4655

Biochemistry and Molecular Biology July 2010

Alterations of the 5′Untranslated Region of SLC16A12 Lead to Age-Related Cataract

PDF

Jurian Zuercher; John Neidhardt; Istvan Magyar; Stephan Labs; Anthony T. Moore; Felix C. Tanner; Naushin Waseem; Daniel F. Schorderet; Francis L. Munier; Shomi Bhattacharya; Wolfgang Berger; Barbara Kloeckener-Gruissem
TAGS: alleles, cataract, cataract, senile, mutation, rna, single nucleotide polymorphism, dna, cell culture techniques, heterogeneity
Invest. Ophthalmol. Vis. Sci.. 2010; 51(7):3354-3361. https://doi.org/10.1167/iovs.10-5193

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Skewed X-chromosomal inactivation causes ciliary mis-localization of RPGR and retinal dystrophies in female carriers of RPGR mutations.

Genotype-phenotype correlation and disease modeling in RPGR -related cone and cone-rod dystrophies.

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

A novel treatment of OPA1 splice defects by U1 snRNA adaptions in a DOA mouse model and patient-derived cells

Treatment of a BBS1 splice site mutation applying a combination of designed U1snRNA and antisense oligonucleotides.

DNA sequence alterations at the ISce-I target site in vivo in photoreceptors and RPE cells following AAV mediated gene transfer

A novel mouse model carrying a mutation in Gsdma3 resembles late stage Evaporative Dry Eye (EDE) disease and presents with alopecia and corneal inflammation.

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

Whole exome sequencing towards a rapid identification of genetic variants associated with congenital nystagmus.

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

Retina-wide AAV-transduction in mice: A novel method combining vitrectomy and intravitreal injection

Two distinct phenotypes in the same family are caused by the Schiff base counterion mutation p.E113K in rhodopsin.

A new method to determine efficacies to treat RPGR mutations: Quantification of RPGR transport along the primary cilium in patient-derived cells

The importance of Sanger sequencing of exon ORF15 of RPGR at the time of next-generation sequencing

Highly efficient genetic diagnostic testing in patients with inherited retinal dystrophies using Panel-based Next Generation Sequencing

Identification of the substrate and characterization of transport properties for the cataract associated monocarboxylate transporter MCT12

Gene Therapy To Rescue Splice Defects In Eye Diseases Using U1 snRNA

Next Generation Genetic Testing And Candidate Gene Analysis In Retinal Diseases

ABCA4 and ROM1: Implications for Modification of the PRPH2 -Associated Macular Dystrophy Phenotype

Alterations of the 5′Untranslated Region of SLC16A12 Lead to Age-Related Cataract

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