Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Laura, Kühlewein"'
Autor:
Jan-Philipp Bodenbender, Valerio Marino, Julia Philipp, Anke Tropitzsch, Christoph Kernstock, Katarina Stingl, Melanie Kempf, Tobias B. Haack, Theresia Zuleger, Pascale Mazzola, Susanne Kohl, Nicole Weisschuh, Daniele Dell’Orco, Laura Kühlewein
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-13 (2024)
Abstract Our purpose was to elucidate the genotype and ophthalmological and audiological phenotype in TUBB4B-associated inherited retinal dystrophy (IRD) and sensorineural hearing loss (SNHL), and to model the effects of all possible amino acid subst
Externí odkaz:
https://doaj.org/article/8ed648043ce34aba9586e83dd5fbdd7c
Autor:
Pietro De Angeli, Arturo Flores-Tufiño, Katarina Stingl, Laura Kühlewein, Eleonora Roschi, Bernd Wissinger, Susanne Kohl
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 35, Iss 1, Pp 102113- (2024)
Splicing defects from deep-intronic variants significantly contribute to the mutational spectrum in ABCA4-associated inherited retinal diseases, necessitating functional validation for their pathological classification. Typically, minigene assays in
Externí odkaz:
https://doaj.org/article/2432239a36154de1b9786f11e2c564fc
Autor:
Jan-Philipp Bodenbender, Valerio Marino, Leon Bethge, Katarina Stingl, Tobias B. Haack, Saskia Biskup, Susanne Kohl, Laura Kühlewein, Daniele Dell’Orco, Nicole Weisschuh
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 3, p 2709 (2023)
Biallelic pathogenic variants in TULP1 are mostly associated with severe rod-driven inherited retinal degeneration. In this study, we analyzed clinical heterogeneity in 17 patients and characterized the underlying biallelic variants in TULP1. All pat
Externí odkaz:
https://doaj.org/article/150acb428bca45618866d1d631a26dc6
Publikováno v:
Retina. 43:209-214
Autor:
Susanne Kohl, Britta Baumann, Francesca Dassie, Anja K. Mayer, Maria Solaki, Peggy Reuter, Laura Kühlewein, Bernd Wissinger, Pietro Maffei
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 15, p 7842 (2021)
Achromatopsia (ACHM) is a rare autosomal recessively inherited retinal disease characterized by congenital photophobia, nystagmus, low visual acuity, and absence of color vision. ACHM is genetically heterogeneous and can be caused by biallelic mutati
Externí odkaz:
https://doaj.org/article/5e736dec330548dbbae594266f9cb99c
Autor:
Kerol R. Donteu Djoumessi, Indu Ilanchezian, Laura Kühlewein, Hanna Faber, Christian F. Baumgartner, Bubacarr Bah, Philipp Berens, Lisa M. Koch
Interpreting deep learning models typically relies on post-hoc saliency map techniques. However, these techniques often fail to serve as actionable feedback to clinicians, and they do not directly explain the decision mechanism. Here, we propose an i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cb7c338357ebcf7f869673f9129a9385
https://doi.org/10.1101/2023.03.07.23286895
https://doi.org/10.1101/2023.03.07.23286895
Autor:
Gerardo Farese, Laura Kühlewein, George Hayek, Karl Boden, Peter Szurman, Annekatrin Rickmann
Publikováno v:
Die Ophthalmologie.
Autor:
Gerardo, Farese, Laura, Kühlewein, George, Hayek, Karl, Boden, Peter, Szurman, Annekatrin, Rickmann
Publikováno v:
Die OphthalmologieLiteratur.
Autor:
Katarina Stingl, Ruth Schippert, Karl U. Bartz-Schmidt, Dorothea Besch, Charles L. Cottriall, Thomas L. Edwards, Florian Gekeler, Udo Greppmaier, Katja Kiel, Assen Koitschev, Laura Kühlewein, Robert E. MacLaren, James D. Ramsden, Johann Roider, Albrecht Rothermel, Helmut Sachs, Greta S. Schröder, Jan Tode, Nicole Troelenberg, Eberhart Zrenner
Publikováno v:
Frontiers in Neuroscience, Vol 11 (2017)
Purpose: We assessed the safety and efficacy of a technically advanced subretinal electronic implant, RETINA IMPLANT Alpha AMS, in end stage retinal degeneration in an interim analysis of two ongoing prospective clinical trials. The purpose of this a
Externí odkaz:
https://doaj.org/article/a36b08621b894d71b1d1c498ff334af9
Autor:
Murat Seçkin Ayhan, Hanna Faber, Laura Kühlewein, Werner Inhoffen, Gulnar Aliyeva, Focke Ziemssen, Philipp Berens
PurposeComparison of performance and explainability of a multi-task convolutional deep neuronal network to single-task networks for activity detection in neovascular age-dependent macular degeneration.MethodsFrom n = 70 patients (46 female, 24 male)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c2be7e2d32cfaf1ff810592ba73cac54
https://doi.org/10.1101/2022.06.13.22276315
https://doi.org/10.1101/2022.06.13.22276315