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von Afanasyeva, TAV ; Athanasiou, D ; Perdigao, PRL ; et al.
Methods & Clinical Development , 29 pp. 522-531. (2023)
Schlagworte: retinal organoid; retinal disease; Leber congenital amaurosis; CRISPR-Cas9; isogenic; lebercilin; whole-genome sequencing; LCA5
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von Klionsky DJ ; Abdel-Aziz AK ; Abdelfatah S ; et al.
Schlagworte: Autophagosome; cancer; flux
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von Harvey, JP ; Sladen, PE ; Yu-Wai-Man, P ; et al.
Journal of Neuro-Ophthalmology , 42 (1) pp. 35-44. (2022)
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von Sladen, PE ; Perdigão, PRL ; Salsbury, G ; et al.
Molecular Therapy: Nucleic Acids , 26 pp. 432-443. (2021)
Schlagworte: mitochondria; gene editing; CRISPR; gene correction; iPSC; optic atrophy; OPA1; retinal ganglion cell; apoptosis; bioenergetics
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von Afanasyeva, TAV ; Corral-Serrano, JC ; Garanto, A ; et al.
Cellular and Molecular Life Sciences (2021) (In press).
Schlagworte: Retina; Organoid; Inherited; Omics; Degeneration; Therapy
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von Patrizi, C ; Llado, M ; Benati, D ; et al.
American Journal of Human Genetics , 108 (2) pp. 295-308. (2021)
Schlagworte: AAV vector; CRISPR-Cas9 editing; Rhodopsin; retinitis pigmentosa; transgenic mice
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von De Bruijn, SE ; Fiorentino, A ; Ottaviani, D ; et al.
American Journal of Human Genetics (2020) (In press).
Schlagworte: GDPD; Hi-C; RP17; dominant retinitis pigmentosa; ectopic expression; photoreceptor precursors cells; retinal organoids; stem cells; structural variants; topologically associated domains; whole-genome sequencing
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von Vig, A ; Poulter, JA ; Ottaviani, D ; et al.
Genetics in Medicine (2020) (In press).
Schlagworte: DYNC2H1; inherited retinal disease (IRD); intraflagellar transport (IFT); primary cilia; retinitis pigmentosa (RP)
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Schlagworte: ABCA4; Stargardt disease; antisense oligonucleotides; iPSC; intronic mutations; organoids; photoreceptors; retina; splicing; stem cells
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von Lane, A ; Jovanovic, K ; Shortall, C ; et al.
Stem Cell Reports (2020) (In press).
Schlagworte: AAV; CRISPR gene editing; cell death; disease modeling; gene therapy; genetic; inherited disease; retinal degeneration; retinal organoid; stem cell
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von Corral-Serrano, JC ; Lamers, IJC ; van Reeuwijk, J ; et al.
Proceedings of the National Academy of Sciences of the United States of America , 117 (18) (2020)
Schlagworte: photoreceptor | cilium | outer segments | actin | retinitis pigmentosa
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von Aguilà, M ; Bellingham, J ; Athanasiou, D ; et al.
Human Molecular Genetics , 29 (8) pp. 1310-1318. (2020)
Schlagworte: Mutation; homeostasis; electroretinography; genes; mice; knockout; molecular chaperones; oxidoreductase; photoreceptors; quality control; retinitis pigmentosa; rhodopsin; vision
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von Guarascio, R ; Salih, D ; Yasvoina, M ; et al.
Human Molecular Genetics , 29 (1) pp. 80-96. (2020)
Schlagworte: autophagytau proteinsubiquitinmulticatalytic endopeptidase complexautophagosomes
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von Cideciyan, AV ; Jacobson, SG ; Drack, AV ; et al.
Nature Medicine , 25 pp. 225-228. (2019)
Schlagworte: Antisense oligonucleotide therapy; Clinical trials; Neurodegeneration; Oligo delivery
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von Kampinga, HH ; Andreasson, C ; Barducci, A ; et al.
Cell Stress and Chaperones , 24 (1) pp. 7-15. (2019)
Schlagworte: Heat shock protein 70 (Hsp70); J-domain proteins (JDPs); 8-stranded β-sandwich domain (SBDβ)
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von Fiorentino, A ; Yu, J ; Arno, G ; et al.
Molecular Vision , 24 pp. 603-612. (2018)
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von Zarouchlioti, C ; Parfitt, DA ; Li, WW ; et al.
Philosophical Transactions B: Biological Sciences , 373 (1738) , Article 20160534. (2018)
Schlagworte: DNAJ; molecular chaperones; neurodegeneration
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von Athanasiou, D ; Aguila, M ; Bellingham, J ; et al.
Progress in Retinal and Eye Research , 62 pp. 1-23. (2018)
Schlagworte: CRISPR; Endocytosis; GPCR; Mutation; Neurodegeneration; Protein misfolding; Protein traffic; Proteostasis; Retinal dystrophy; Rhodopsin; Therapy
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von Fiorentino, A ; Fujinami, K ; Arno, G ; et al.
Human Mutation , 39 (1) pp. 80-91. (2018)
Schlagworte: Next generation sequencing; PRPS1; PRS-I; Retinal Dystrophy
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