John Neidhardt

机构：Carl von Ossietzky Universität Oldenburg · ORCID：0000-0002-9205-8394

发表论文 107 篇 · 总被引 3764 次 · h-index 32

代表论文

• Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss (2021 · The American Journal of Human Genetics · 被引 43)
• Autosomal dominant optic atrophy: A novel treatment for OPA1 splice defects using U1 snRNA adaption (2021 · Molecular Therapy — Nucleic Acids · 被引 21)
• Retrospective Natural History Study of RPGR-Related Cone- and Cone-Rod Dystrophies While Expanding the Mutation Spectrum of the Disease (2022 · International Journal of Molecular Sciences · 被引 16)
• Systematic expression analysis of plasticity‐related genes in mouse brain development brings PRG4 into play (2021 · Developmental Dynamics · 被引 16)
• The Major Ciliary Isoforms of RPGR Build Different Interaction Complexes with INPP5E and RPGRIP1L (2021 · International Journal of Molecular Sciences · 被引 15)
• In Vivo Efficacy and Safety Evaluations of Therapeutic Splicing Correction Using U1 snRNA in the Mouse Retina (2023 · Cells · 被引 10)