المؤلفون: Karali, Marianthi, Testa, Francesco, Di Iorio, Valentina, Torella, Annalaura, Zeuli, Roberta, Scarpato, Margherita, Romano, Francesca, Onore, Maria Elena, Pizzo, Mariateresa, Melillo, Paolo, Brunetti-Pierri, Raffaella, Passerini, Ilaria, Pelo, Elisabetta, Cremers, Frans P M, Esposito, Gabriella, Nigro, Vincenzo, Simonelli, Francesca, Banfi, Sandro

المساهمون: Karali, Marianthi, Testa, Francesco, Di Iorio, Valentina, Torella, Annalaura, Zeuli, Roberta, Scarpato, Margherita, Romano, Francesca, Onore, Maria Elena, Pizzo, Mariateresa, Melillo, Paolo, Brunetti-Pierri, Raffaella, Passerini, Ilaria, Pelo, Elisabetta, Cremers, Frans P M, Esposito, Gabriella, Nigro, Vincenzo, Simonelli, Francesca, Banfi, Sandro

مصطلحات موضوعية: epidemiological study, inherited retinal diseases, molecular diagnosis, genotypes, molecular therapies

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000932261400018; volume:12; issue:1; firstpage:20815; numberofpages:15; journal:SCIENTIFIC REPORTS; https://hdl.handle.net/11588/905855Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85143144953; https://www.nature.com/articles/s41598-022-24636-1.pdfTest

الإتاحة: https://doi.org/10.1038/s41598-022-24636-1Test
https://hdl.handle.net/11588/905855Test
https://www.nature.com/articles/s41598-022-24636-1.pdfTest

المؤلفون: Ricci, Zaccaria, Colosimo, Denise, Saccarelli, Luca, Pizzo, Mariateresa, Schirru, Elena, Giacalone, Salvatore, Mancinelli, Paola, Baldini, Gabriele, Serio, Paola

المصدر: Journal of Anesthesia, Analgesia & Critical Care; 2/13/2024, Vol. 4 Issue 1, p1-7, 7p

مصطلحات موضوعية: PREPROCEDURAL fasting, FASTING, RETROSPECTIVE studies

المؤلفون: Carrella, Sabrina, Di Guida, Martina, Brillante, Simona, Piccolo, Davide, Ciampi, Ludovica, Guadagnino, Irene, Garcia Piqueras, Jorge, Pizzo, Mariateresa, Marrocco, Elena, Molinari, Marta, Petrogiannakis, Georgios, Barbato, Sara, Ezhova, Yulia, Auricchio, Alberto, Franco, Brunella, De Leonibus, Elvira, Surace, Enrico Maria, Indrieri, Alessia, Banfi, Sandro

المساهمون: Foundation Fighting Blindness, Velux Stiftung

المصدر: EMBO Molecular Medicine ; volume 14, issue 11 ; ISSN 1757-4676 1757-4684

مصطلحات موضوعية: Molecular Medicine

الإتاحة: https://doi.org/10.15252/emmm.202215941Test

المؤلفون: Karali, Marianthi, Guadagnino, Irene, Marrocco, Elena, De Cegli, Rossella, Carissimo, Annamaria, Pizzo, Mariateresa, Casarosa, Simona, Conte, Ivan, Surace, Enrico Maria, Banfi, Sandro

المساهمون: Foundation Fighting Blindness, Fondazione Telethon, European Research Council

المصدر: Molecular Therapy - Nucleic Acids ; volume 19, page 144-156 ; ISSN 2162-2531

مصطلحات موضوعية: Drug Discovery, Molecular Medicine

الإتاحة: https://doi.org/10.1016/j.omtn.2019.11.005Test
https://api.elsevier.com/content/article/PII:S2162253119303580?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2162253119303580?httpAccept=text/plainTest

المؤلفون: Indrieri, Alessia, Carrella, Sabrina, Romano, Alessia, Spaziano, Alessandra, Marrocco, Elena, Fernandez-Vizarra, Erika, Barbato, Sara, Pizzo, Mariateresa, Ezhova, Yulia, Golia, Francesca M, Ciampi, Ludovica, Tammaro, Roberta, Henao-Mejia, Jorge, Williams, Adam, Flavell, Richard A, De Leonibus, Elvira, Zeviani, Massimo, Surace, Enrico M, Banfi, Sandro, Franco, Brunella

مصطلحات موضوعية: LHON, miR‐181, microRNA, mitochondrial disease, neurodegeneration

وصف الملف: application/pdf

العلاقة: https://www.repository.cam.ac.uk/handle/1810/296826Test

الإتاحة: https://doi.org/10.17863/CAM.43870Test
https://www.repository.cam.ac.uk/handle/1810/296826Test

المؤلفون: Conte, Ivan, Hadfield, Kristen D., Barbato, Sara, Carrella, Sabrina, Pizzo, Mariateresa, Bhat, Rajeshwari S., Carissimo, Annamaria, Karali, Marianthi, Porter, Louise F., Urquhart, Jill, Hateley, Sofie, O’Sullivan, James, Manson, Forbes D. C., Neuhauss, Stephan C. F., Banfi, Sandro, Black, Graeme C. M.

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2015 Jun . 112(25), E3236-E3245.

الوصول الحر: https://www.jstor.org/stable/26463895Test

المؤلفون: Barbato, Sara, Marrocco, Elena, Intartaglia, Daniela, Pizzo, Mariateresa, Asteriti, Sabrina, Naso, Federica, Falanga, Danila, Bhat, Rajeshwari S, Meola, Nicola, Carissimo, Annamaria, Karali, Marianthi, Prosser, Haydn M, Cangiano, Lorenzo, Surace, Enrico Maria, Banfi, Sandro, Conte, Ivan

مصطلحات موضوعية: Animals, Cone Dystrophy, Eye Proteins, Female, Gene Expression Profiling, Gene Expression Regulation, Male, Mice, Knockout, MicroRNAs, Retinal Cone Photoreceptor Cells, Vision, Ocular

وصف الملف: Electronic; application/pdf

العلاقة: https://www.repository.cam.ac.uk/handle/1810/275083Test

الإتاحة: https://doi.org/10.17863/CAM.22262Test
https://www.repository.cam.ac.uk/handle/1810/275083Test

المؤلفون: Testa, Francesco, Filippelli, Mariaelena, Brunetti-Pierri, Raffaella, Di Fruscio, Giuseppina, Di Iorio, Valentina, Pizzo, Mariateresa, Torella, Annalaura, Barillari, Maria Rosaria, Nigro, Vincenzo, Brunetti-Pierri, Nicola, Simonelli, Francesca, Banfi, Sandro

المصدر: European Journal of Human Genetics ; volume 25, issue 5, page 651-655 ; ISSN 1018-4813 1476-5438

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1038/ejhg.2017.23Test
http://www.nature.com/articles/ejhg201723.pdfTest
http://www.nature.com/articles/ejhg201723Test

المؤلفون: Pinelli, Michele, Carissimo, Annamaria, Cutillo, Luisa, Lai, Ching-Hung, Mutarelli, Margherita, Moretti, Maria Nicoletta, Singh, Marwah Veer, Karali, Marianthi, Carrella, Diego, Pizzo, Mariateresa, Russo, Francesco, Ferrari, Stefano, Ponzin, Diego, Angelini, Claudia, Banfi, Sandro, di Bernardo, Diego

المصدر: Nucleic Acids Research ; volume 44, issue 12, page 5773-5784 ; ISSN 0305-1048 1362-4962

الإتاحة: https://doi.org/10.1093/nar/gkw486Test
http://academic.oup.com/nar/article-pdf/44/12/5773/17437034/gkw486.pdfTest

المؤلفون: Karali, Marianthi, Persico, Maria, Mutarelli, Margherita, Carissimo, Annamaria, Pizzo, Mariateresa, Singh Marwah, Veer, Ambrosio, Concetta, Pinelli, Michele, Carrella, Diego, Ferrari, Stefano, Ponzin, Diego, Nigro, Vincenzo, di Bernardo, Diego, Banfi, Sandro

المصدر: Nucleic Acids Research ; volume 44, issue 4, page 1525-1540 ; ISSN 0305-1048 1362-4962

الإتاحة: https://doi.org/10.1093/nar/gkw039Test
http://academic.oup.com/nar/article-pdf/44/4/1525/16669894/gkw039.pdfTest