المؤلفون: Rita Ferla, Fabio Dell’Aquila, Monica Doria, Maria Ferraiuolo, Alessia Noto, Fabiana Grazioli, Virginia Ammendola, Francesco Testa, Paolo Melillo, Carolina Iodice, Giulia Risca, Novella Tedesco, Pierre Romain le Brun, Enrico Maria Surace, Francesca Simonelli, Stefania Galimberti, Maria Grazia Valsecchi, Jean-Brice Marteau, Philippe Veron, Stefano Colloca, Alberto Auricchio

المصدر: Molecular Therapy: Methods & Clinical Development, Vol 28, Iss , Pp 396-411 (2023)

مصطلحات موضوعية: Usher Syndrome type 1B, retinitis pigmentosa, gene therapy, dual AAV vectors, non-human primates, Genetics, QH426-470, Cytology, QH573-671

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2329050123000128; https://doaj.org/toc/2329-0501

URL الوصول: https://doaj.org/article/61581d1038c94d21b99808688a92c247

المؤلفون: Annapurna Kuppa, Yuri V. Sergeev

المصدر: Journal of analytical & pharmaceutical research

مصطلحات موضوعية: Genetics, molecular modeling, MYO7A, computational mutagenesis, Usher syndrome, Genetic disorder, Mutagenesis (molecular biology technique), genetic mutations, Biology, medicine.disease, genotype-to-phenotype, Article, inherited eye disease, Protein structure, Usher syndrome type 1B, atomic structure, Myosin VIIa, Retinitis pigmentosa, otorhinolaryngologic diseases, medicine, Missense mutation, Homology modeling

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fde92047ffe4d5937178829fa1a1129b
https://doi.org/10.15406/japlr.2021.10.00364

المؤلفون: Umeki, Nobuhisa, Jung, Hyun Suk, Watanabe, Shinya, Sakai, Tsuyoshi, Li, Xiang-Dong, Ikebe, Reiko, Craig, Roger, Ikebe, Mitsuo, Spudich, James A.

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2009 May . 106(21), 8483-8488.

URL الوصول: https://www.jstor.org/stable/40482708

المؤلفون: DELL'AQUILA, FABIO

المساهمون: tutor: A. Auricchio, internal supervisor: I. Conte, external supervisor: V. Marigo, F. Dell'Aquila

مصطلحات موضوعية: Gene therapy, AAV, Usher syndrome type 1B, Gyrate atrophy of the choroid and retina, inherited retinal diseases, Settore MED/03 - Genetica Medica

Relation: http://hdl.handle.net/2434/884458

الاتاحة: http://hdl.handle.net/2434/884458
https://doi.org/10.13130/dell-aquila-fabio_phd2021-12-13

المؤلفون: Batsheva Bonne-Tamir, Dominique Weil, Michael Korostishevsky, Avital Adato, Hagar Kalinski, Hassan Chaib

المصدر: The American Journal of Human Genetics. 65:261-265

مصطلحات موضوعية: Genetic Markers, Male, Letter, Tel aviv, Hearing Loss, Sensorineural, media_common.quotation_subject, Retinitis pigmentosa (RP), Library science, Economic community, Genes, Recessive, Myosins, Deafness, Usher syndrome type 3 (USH3), Myosin VIIA, Gratitude, Genetics, Humans, Genetics(clinical), Digenic inheritance, Sociology, Usher syndrome type 1B (USH1B), Genetics (clinical), media_common, Polymorphism, Genetic, Myosin VIIa, Dyneins, Syndrome, Pedigree, Female, Christian ministry, Inheritance

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::814cbc3f3675a6c3596cccb9185d5201
https://doi.org/10.1086/302438

المؤلفون: Ferla, R, Dell'Aquila, F, Doria, M, Ferraiuolo, M, Noto, A, Grazioli, F, Ammendola, V, Testa, F, Melillo, P, Iodice, C, Risca, G, Tedesco, N, le Brun, P, Surace, E, Simonelli, F, Galimberti, S, Valsecchi, M, Marteau, J, Veron, P, Colloca, S, Auricchio, A, Ferla R., Dell'Aquila F., Doria M., Ferraiuolo M., Noto A., Grazioli F., Ammendola V., Testa F., Melillo P., Iodice C., Risca G., Tedesco N., le Brun P. R., Surace E. M., Simonelli F., Galimberti S., Valsecchi M. G., Marteau J. B., Veron P., Colloca S., Auricchio A.

مصطلحات الفهرس: dual AAV vector, gene therapy, non-human primate, retinitis pigmentosa, Usher Syndrome type 1B, info:eu-repo/semantics/article

URL: https://hdl.handle.net/10281/406655
info:eu-repo/semantics/altIdentifier/pmid/36910588
info:eu-repo/semantics/altIdentifier/wos/WOS:001058421000001
volume:28
issue:9 March 2023
firstpage:396
lastpage:411
numberofpages:16
journal:MOLECULAR THERAPY. METHODS & CLINICAL DEVELOPMENT