Publications by authors named "John Neidhardt"

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A human-specific isoform and a clinically approved Rho/ROCK inhibitor ameliorate defects associated with RPGR dysfunction.
Muhammad Usman, Paul Atigbire, Dennis Kastrati, Julia Milena Brinkhoff, Charlotte Luise Kluth, John Neidhardt

Mol Ther Nucleic Acids· December 2025

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Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.
Reza Asadollahi, Aisha Ahmad, Paranchai Boonsawat, Jasmine Shahanoor Hinzen, Mareike Lohse, John Neidhardt

Nat Genet· November 2025

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Natural History of Autosomal Recessive IMPG2-Associated Retinal Dystrophy.
Michalis Georgiou, Kaoru Fujinami, Yu Fujinami-Yokokawa, Fadi Nasser, Michael J Gale, John Neidhardt

Am J Ophthalmol· October 2025

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Molecular treatment options for patients carrying variants.
Jacqueline E Taudien, Sebastian Swirski, Maike Möller, Christoph Jüschke, Marta Owczarek-Lipska, John Neidhardt

Mol Ther Nucleic Acids· September 2025

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External Validation and Extension of a Cochlear Implant Performance Prediction Model: Analysis of the Oldenburg Cohort.
Rieke Ollermann, Robert Böscke, John Neidhardt, Andreas Radeloff

Audiol Res· June 2025

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Pathogenic variants are associated with defects in primary and motile cilia.
Jacqueline E Taudien, Diana Bracht, Heike Olbrich, Sebastian Swirski, Fulvio D'Abrusco, John Neidhardt

iScience· February 2025

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Rich microbial and depolymerising diversity in Antarctic krill gut.
Lars Möller, Yevhen Vainshtein, Bettina Meyer, John Neidhardt, A Murat Eren

Microbiol Spectr· April 2024

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Sensitive and selective phenol sensing in denitrifying EbN1.
Ramona Buschen, Pia Lambertus, Sabine Scheve, Simon Horst, Fei Song, John Neidhardt

Microbiol Spectr· December 2023

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Skewed X-inactivation is associated with retinal dystrophy in female carriers of mutations.
Muhammad Usman, Christoph Jüschke, Fei Song, Dennis Kastrati, Marta Owczarek-Lipska, John Neidhardt

Life Sci Alliance· October 2023

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mRNA splicing is modulated by intronic microRNAs.
Luba Farberov, Daphna Weissglas-Volkov, Guy Shapira, Yazeed Zoabi, Chen Schiff, John Neidhardt

iScience· October 2023

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In Vivo Efficacy and Safety Evaluations of Therapeutic Splicing Correction Using U1 snRNA in the Mouse Retina.
Sebastian Swirski, Oliver May, Malte Ahlers, Bernd Wissinger, Martin Greschner, John Neidhardt

Cells· March 2023

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A TARP Syndrome Phenotype Is Associated with a Novel Splicing Variant in .
Marta Owczarek-Lipska, Fenja Markus, Eva Bültmann, G Christoph Korenke, John Neidhardt

Genes (Basel)· November 2022

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Retrospective Natural History Study of -Related Cone- and Cone-Rod Dystrophies While Expanding the Mutation Spectrum of the Disease.
Marco Nassisi, Giuseppe De Bartolo, Saddek Mohand-Said, Christel Condroyer, Aline Antonio, John Neidhardt

Int J Mol Sci· June 2022

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Systematic expression analysis of plasticity-related genes in mouse brain development brings PRG4 into play.
Isabel Gross, Tabea Tschigor, Angelina L Salman, Fan Yang, Jiankai Luo, John Neidhardt

Dev Dyn· April 2022

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A novel missense variant in the EML1 gene associated with bilateral ribbon-like subcortical heterotopia leads to ciliary defects.
Fenja Markus, Annika Kannengießer, Patricia Näder, Paul Atigbire, Alexander Scholten, John Neidhardt

J Hum Genet· December 2021

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Autosomal dominant optic atrophy: A novel treatment for splice defects using U1 snRNA adaption.
Christoph Jüschke, Thomas Klopstock, Claudia B Catarino, Marta Owczarek-Lipska, Bernd Wissinger, John Neidhardt

Mol Ther Nucleic Acids· December 2021

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Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.
Elodie M Richard, Somayeh Bakhtiari, Ashley P L Marsh, Rauan Kaiyrzhanov, Matias Wagner, John Neidhardt

Am J Hum Genet· October 2021

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High-Throughput Sequencing to Identify Mutations Associated with Retinal Dystrophies.
Fei Song, Marta Owczarek-Lipska, Tim Ahmels, Marius Book, Sabine Aisenbrey, John Neidhardt

Genes (Basel)· August 2021

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Dominant optic atrophy: Culprit mitochondria in the optic nerve.
Guy Lenaers, Albert Neutzner, Yannick Le Dantec, Christoph Jüschke, Ting Xiao, John Neidhardt

Prog Retin Eye Res· July 2021

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The Major Ciliary Isoforms of RPGR Build Different Interaction Complexes with INPP5E and RPGRIP1L.
Christine Vössing, Paul Atigbire, Jannis Eilers, Fenja Markus, Knut Stieger, John Neidhardt

Int J Mol Sci· March 2021

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Spectrum of Disease Severity in Patients With X-Linked Retinitis Pigmentosa Due to RPGR Mutations.
Valentina Di Iorio, Marianthi Karali, Paolo Melillo, Francesco Testa, Raffaella Brunetti-Pierri, John Neidhardt

Invest Ophthalmol Vis Sci· December 2020

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Translational Read-Through Therapy of Nonsense Mutations.
Christine Vössing, Marta Owczarek-Lipska, Kerstin Nagel-Wolfrum, Charlotte Reiff, Christoph Jüschke, John Neidhardt

Int J Mol Sci· November 2020

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Rare variants in the GABA receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes.
Fenja Markus, Chloé Angelini, Aurelien Trimouille, Gabrielle Rudolf, Gaetan Lesca, John Neidhardt

Mol Genet Genomic Med· September 2020

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A Novel de novo Frameshift Mutation in the Gene in a Patient with Intellectual Disability Syndrome and Epilepsy.
Georg Christoph Korenke, Björn Schulte, Saskia Biskup, John Neidhardt, Marta Owczarek-Lipska

Mol Syndromol· July 2020

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Identification of Brain-Specific Treatment Effects in NPC1 Disease by Focusing on Cellular and Molecular Changes of Sphingosine-1-Phosphate Metabolism.
Anne Gläser, Franziska Hammerl, Markus H Gräler, Sina M Coldewey, Christin Völkner, John Neidhardt

Int J Mol Sci· June 2020

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