نتائج البحث - "Zarouchlioti, Christina"

المساهمون: Zarouchlioti, Christina, Efthymiou, Stephanie, Facchini, Stefano, Dominik, Natalia, Bhattacharyya, Nihar, Liu, Siyin, Costa, Marcos Abreu, Szabo, Anita, Sadan, Amanda N., Jun, Albert S., Bugiardini, Enrico, Houlden, Henry, Cortese, Andrea, Skalicka, Pavlina, Dudakova, Lubica, Muthusamy, Kirithika, Cheetham, Michael E., Hardcastle, Alison J., Liskova, Petra, Tuft, Stephen J., Davidson, Alice E.

مصطلحات موضوعية: Fuchs endothelial corneal dystrophy, Optical genome mapping, Somatic mosaicism, Tissue-specific repeat instability, Trinucleotide repeat expansion disease, Triplet repeat expansion-mediated disease

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/39278108; info:eu-repo/semantics/altIdentifier/wos/WOS:001318539700001; volume:108; journal:EBIOMEDICINE; https://hdl.handle.net/11571/1510805; https://www.sciencedirect.com/science/article/pii/S2352396424003645?via=ihub

الاتاحة: https://hdl.handle.net/11571/1510805
https://doi.org/10.1016/j.ebiom.2024.105328
https://www.sciencedirect.com/science/article/pii/S2352396424003645?via=ihub

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6

Academic Journal

Autosomal dominant stromal corneal dystrophy associated with a SPARCL1 missense variant

المؤلفون: Braddock, Freddie L., Gardner, Jessica C., Bhattacharyya, Nihar, Sanchez-Pintado, Beatriz, Costa, Marcos, Zarouchlioti, Christina, Szabo, Anita, Lišková, Petra, Cheetham, Michael E., Young, Robert D., Thaung, Caroline, Davidson, Alice E., Tuft, Stephen J., Hardcastle, Alison J.

وصف الملف: application/pdf

Relation: https://orca.cardiff.ac.uk/id/eprint/174438/1/41431_2024_Article_1687.pdf; https://orca.cardiff.ac.uk/id/eprint/174438/2/41431_2024_1687_MOESM1_ESM.pdf; Braddock, Freddie L., Gardner, Jessica C., Bhattacharyya, Nihar, Sanchez-Pintado, Beatriz, Costa, Marcos, Zarouchlioti, Christina, Szabo, Anita, Lišková, Petra https://orca.cardiff.ac.uk/view/cardiffauthors/A2474029I.html, Cheetham, Michael E., Young, Robert D. orcid:0000-0002-8300-8002 orcid:0000-0002-8300-8002, Thaung, Caroline, Davidson, Alice E., Tuft, Stephen J. and Hardcastle, Alison J. 2024. Autosomal dominant stromal corneal dystrophy associated with a SPARCL1 missense variant. European Journal of Human Genetics 32 (12) , pp. 1583-1589. 10.1038/s41431-024-01687-8 https://doi.org/10.1038/s41431-024-01687-8 file https://orca.cardiff.ac.uk/id/eprint/174438/1/41431_2024_Article_1687.pdffile https://orca.cardiff.ac.uk/id/eprint/174438/2/41431_2024_1687_MOESM1_ESM.pdf

الاتاحة: https://orca.cardiff.ac.uk/id/eprint/174438/
https://doi.org/10.1038/s41431-024-01687-8
https://orca.cardiff.ac.uk/id/eprint/174438/1/41431_2024_Article_1687.pdf
https://orca.cardiff.ac.uk/id/eprint/174438/2/41431_2024_1687_MOESM1_ESM.pdf

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7

Academic Journal

DNAJ Proteins in neurodegeneration: essential and protective factors

المؤلفون: Zarouchlioti, Christina, Parfitt, David A., Li, Wenwen, Gittings, Lauren M., Cheetham, Michael E.

المصدر: Philosophical Transactions: Biological Sciences, 2018 Jan . 373(1738), 1-14.

URL الوصول: https://www.jstor.org/stable/44679253

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8

Academic Journal

CRISPR/Cas9-targeted enrichment and long-read sequencing of the Fuchs endothelial corneal dystrophy–associated TCF4 triplet repeat

المؤلفون: Hafford-Tear, Nathaniel J., Tsai, Yu-Chih, Sadan, Amanda N., Sanchez-Pintado, Beatriz, Zarouchlioti, Christina, Maher, Geoffrey J., Liskova, Petra, Tuft, Stephen J., Hardcastle, Alison J., Clark, Tyson A., Davidson, Alice E.

المصدر: Genetics in Medicine ; volume 21, issue 9, page 2092-2102 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1038/s41436-019-0453-x
http://www.nature.com/articles/s41436-019-0453-x.pdf
http://www.nature.com/articles/s41436-019-0453-x
https://api.elsevier.com/content/article/PII:S1098360021049996?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021049996?httpAccept=text/plain

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9

Academic Journal

Antisense Therapy for a Common Corneal Dystrophy Ameliorates TCF4 Repeat Expansion-Mediated Toxicity

المؤلفون: Zarouchlioti, Christina, Sanchez-Pintado, Beatriz, Hafford Tear, Nathaniel J., Klein, Pontus, Liskova, Petra, Dulla, Kalyan, Semo, Ma’ayan, Vugler, Anthony A., Muthusamy, Kirithika, Dudakova, Lubica, Levis, Hannah J., Skalicka, Pavlina, Hysi, Pirro, Cheetham, Michael E., Tuft, Stephen J., Adamson, Peter, Hardcastle, Alison J., Davidson, Alice E.

المصدر: Zarouchlioti , C , Sanchez-Pintado , B , Hafford Tear , N J , Klein , P , Liskova , P , Dulla , K , Semo , M , Vugler , A A , Muthusamy , K , Dudakova , L , Levis , H J , Skalicka , P , Hysi , P , Cheetham , M E , Tuft , S J , Adamson , P , Hardcastle , A J & Davidson , A E 2018 , ' Antisense Therapy for a Common Corneal Dystrophy Ameliorates TCF4 Repeat Expansion-Mediated Toxicity ' , American Journal of ....

مصطلحات موضوعية: antisense oligonucleotide, Fuchs endothelial corneal dystrophy, repeat-expansion, transcription factor 4, RNA toxicity, triplet repeat-mediated disease, corneal dystrophy, non-coding mutations

Relation: https://kclpure.kcl.ac.uk/portal/en/publications/a2ad0c37-9717-4dcb-88ee-9943e03faa61

الاتاحة: https://kclpure.kcl.ac.uk/portal/en/publications/a2ad0c37-9717-4dcb-88ee-9943e03faa61
https://doi.org/10.1016/j.ajhg.2018.02.010

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