يعرض 1 - 10 نتائج من 272 نتيجة بحث عن '"DI GREGORIO, Eleonora"', وقت الاستعلام: 0.95s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.

    المؤلفون: Hardcastle, Amy, Berry, Aliska, Campbell, Ian, Zhao, Xiaonan, Liu, Pengfei, Gerard, Amanda, Rosenfeld, Jill, Sisoudiya, Saumya, Hernandez-Garcia, Andres, Loddo, Sara, Di Tommaso, Silvia, Novelli, Antonio, Dentici, Maria, Capolino, Rossella, Digilio, Maria, Graziani, Ludovico, Rustad, Cecilie, Neas, Katherine, Ferrero, Giovanni, Brusco, Alfredo, Di Gregorio, Eleonora, Wellesley, Diana, Beneteau, Claire, Joubert, Madeleine, Van Den Bogaert, Kris, Boogaerts, Anneleen, McMullan, Dominic, Dean, John, Giuffrida, Maria, Bernardini, Laura, Varghese, Vinod, Shannon, Nora, Harrison, Rachel, Lam, Wayne, McKee, Shane, Turnpenny, Peter, Cole, Trevor, Morton, Jenny, Eason, Jacqueline, Hall, Rebecca, Wright, Michael, Horridge, Karen, Shaw, Chad, Chung, Wendy, Scott, Daryl, Jones, Marilyn

    المصدر: American Journal of Medical Genetics Part A. 188(10)

    مصطلحات موضوعية: CREBBP, DECIPHER database, SMARCA4, UBA2, USP9X, congenital diaphragmatic hernia, Animals, DNA Copy Number Variations, Diaphragm, Hernias, Diaphragmatic, Congenital, Mice

    وصف الملف: application/pdf

    الوصول الحر: https://escholarship.org/uc/item/0643544fTest

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  2. 2
    دورية أكاديمية
    Spinocerebellar ataxia 38: structure-function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot

    المؤلفون: Ferrero, Enza, Di Gregorio, Eleonora, Ferrero, Marta, Ortolan, Erika, Moon, Young-Ah, Di Campli, Antonella, Pavinato, Lisa, Mancini, Cecilia, Tripathy, Debasmita, Manes, Marta, Hoxha, Eriola, Costanzi, Chiara, Pozzi, Elisa, Rossi Sebastiano, Matteo, Mitro, Nico, Tempia, Filippo, Caruso, Donatella, Borroni, Barbara, Basso, Manuela, Sallese, Michele, Brusco, Alfredo

    المساهمون: Ferrero, Enza, Di Gregorio, Eleonora, Ferrero, Marta, Ortolan, Erika, Moon, Young-Ah, Di Campli, Antonella, Pavinato, Lisa, Mancini, Cecilia, Tripathy, Debasmita, Manes, Marta, Hoxha, Eriola, Costanzi, Chiara, Pozzi, Elisa, Rossi Sebastiano, Matteo, Mitro, Nico, Tempia, Filippo, Caruso, Donatella, Borroni, Barbara, Basso, Manuela, Sallese, Michele, Brusco, Alfredo

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37199746; info:eu-repo/semantics/altIdentifier/wos/WOS:000989314000001; volume:142; issue:8; firstpage:1055; lastpage:1076; numberofpages:22; journal:HUMAN GENETICS; https://hdl.handle.net/11572/405611Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85159671205; https://link.springer.com/article/10.1007/s00439-023-02572-yTest

    الإتاحة: https://doi.org/10.1007/s00439-023-02572-yTest
    https://hdl.handle.net/11572/405611Test

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  3. 3
    كتاب
    INDAGINE PREMS PATIENT-REPORTED EXPERIENCE MEASURES. RILEVAZIONE SISTEMATICA DELL’ESPERIENZA DI RICOVERO ORDINARIO RIPORTATO DAI PAZIENTI ADULTI E PEDIATRICI NELLA SANITA’ TOSCANA.

    المؤلفون: Sabina De Rosis, Manila Bonciani, COVRE, Federica, CORAZZA, Ilaria, CASSANO, Michela, PELAGAGGE, KATY, DI GREGORIO, ELEONORA, Domenico Cerasuolo, Sabina Nuti

    المساهمون: DE ROSIS, Sabina, Bonciani, Manila, Covre, Federica, Corazza, Ilaria, Cassano, Michela, Pelagagge, Katy, DI GREGORIO, Eleonora, Cerasuolo, Domenico, Nuti, Sabina

    وصف الملف: STAMPA

    العلاقة: info:eu-repo/semantics/altIdentifier/isbn/978-88-944128-4-0; firstpage:1; lastpage:76; numberofpages:76; http://hdl.handle.net/11382/529049Test

    الإتاحة: http://hdl.handle.net/11382/529049Test

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  4. 4
    دورية أكاديمية
    CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD

    المؤلفون: Pavinato, Lisa, Delle Vedove, Andrea, Carli, Diana, Ferrero, Marta, Carestiato, Silvia, Howe, Jennifer L, Agolini, Emanuele, Coviello, Domenico A, van de Laar, Ingrid, Au, Ping Yee Billie, Di Gregorio, Eleonora, Fabbiani, Alessandra, Croci, Susanna, Mencarelli, Maria Antonietta, Bruno, Lucia P, Renieri, Alessandra, Veltra, Danai, Sofocleous, Christalena, Faivre, Laurence, Mazel, Benoit, Safraou, Hana, Denommé-Pichon, Anne Sophie, van Slegtenhorst, Marjon A, Giesbertz, Noor, van Jaarsveld, Richard H, Childers, Anna, Rogers, R Curtis, Novelli, Antonio, De Rubeis, Silvia, Buxbaum, Joseph D, Scherer, Stephen W, Ferrero, Giovanni Battista, Wirth, Brunhilde, Brusco, Alfredo

    المساهمون: Pavinato, Lisa, Delle Vedove, Andrea, Carli, Diana, Ferrero, Marta, Carestiato, Silvia, Howe, Jennifer L, Agolini, Emanuele, Coviello, Domenico A, van de Laar, Ingrid, Au, Ping Yee Billie, Di Gregorio, Eleonora, Fabbiani, Alessandra, Croci, Susanna, Mencarelli, Maria Antonietta, Bruno, Lucia P, Renieri, Alessandra, Veltra, Danai, Sofocleous, Christalena, Faivre, Laurence, Mazel, Benoit, Safraou, Hana, Denommé-Pichon, Anne Sophie, van Slegtenhorst, Marjon A, Giesbertz, Noor, van Jaarsveld, Richard H, Childers, Anna, Rogers, R Curti, Novelli, Antonio, De Rubeis, Silvia, Buxbaum, Joseph D, Scherer, Stephen W, Ferrero, Giovanni Battista, Wirth, Brunhilde, Brusco, Alfredo

    مصطلحات موضوعية: ADHD, ASD, CAPRIN1, RNG105, neurodevelopment

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35979925; volume:146; firstpage:534; lastpage:548; numberofpages:15; journal:BRAIN; https://hdl.handle.net/2318/1885787Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10169411Test/

    الإتاحة: https://doi.org/10.1093/brain/awac278Test
    https://hdl.handle.net/2318/1885787Test
    https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10169411Test/

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  5. 5
    دورية أكاديمية
    Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity

    المؤلفون: Mancini, Cecilia, Hoxha, Eriola, Iommarini, Luisa, Brussino, Alessandro, Richter, Uwe, Montarolo, Francesca, Cagnoli, Claudia, Parolisi, Roberta, Gondor Morosini, Diana Iulia, Nicolò, Valentina, Maltecca, Francesca, Muratori, Luisa, Ronchi, Giulia, Geuna, Stefano, Arnaboldi, Francesca, Donetti, Elena, Giorgio, Elisa, Cavalieri, Simona, Di Gregorio, Eleonora, Pozzi, Elisa, Ferrero, Marta, Riberi, Evelise, Casari, Giorgio, Altruda, Fiorella, Turco, Emilia, Gasparre, Giuseppe, Battersby, Brendan J., Porcelli, Anna Maria, Ferrero, Enza, Brusco, Alfredo, Tempia, Filippo

    المساهمون: Mancini, Cecilia, Hoxha, Eriola, Iommarini, Luisa, Brussino, Alessandro, Richter, Uwe, Montarolo, Francesca, Cagnoli, Claudia, Parolisi, Roberta, Gondor Morosini, Diana Iulia, Nicolò, Valentina, Maltecca, Francesca, Muratori, Luisa, Ronchi, Giulia, Geuna, Stefano, Arnaboldi, Francesca, Donetti, Elena, Giorgio, Elisa, Cavalieri, Simona, Di Gregorio, Eleonora, Pozzi, Elisa, Ferrero, Marta, Riberi, Evelise, Casari, Giorgio, Altruda, Fiorella, Turco, Emilia, Gasparre, Giuseppe, Battersby, Brendan J., Porcelli, Anna Maria, Ferrero, Enza, Brusco, Alfredo, Tempia, Filippo

    مصطلحات موضوعية: AFG3L2, Mitochondrial dynamic, Mouse knock-in, Proteotoxicity, SCA28, Neurology

    العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000459217800002; volume:124; firstpage:14; lastpage:28; numberofpages:15; journal:NEUROBIOLOGY OF DISEASE; http://hdl.handle.net/20.500.11768/86227Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85056203169; http://www.elsevier.com/inca/publications/store/6/2/2/9/2/3/index.httTest

    الإتاحة: https://doi.org/20.500.11768/86227Test
    https://doi.org/10.1016/j.nbd.2018.10.018Test
    https://hdl.handle.net/20.500.11768/86227Test
    http://www.elsevier.com/inca/publications/store/6/2/2/9/2/3/index.httTest

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  6. 6
    دورية أكاديمية
    Congenital Sensorineural Hearing Loss and Inborn Pigmentary Disorders: First Report of Multilocus Syndrome in Piebaldism

    المؤلفون: Gironi, Laura Cristina, Colombo, Enrico, Brusco, Alfredo, Grosso, Enrico, Naretto, Valeria Giorgia, Guala, Andrea, Di Gregorio, Eleonora, Zonta, Andrea, Zottarelli, Francesca, Pasini, Barbara, Savoia, Paola

    المساهمون: Gironi, Laura Cristina, Colombo, Enrico, Brusco, Alfredo, Grosso, Enrico, Naretto, Valeria Giorgia, Guala, Andrea, Di Gregorio, Eleonora, Zonta, Andrea, Zottarelli, Francesca, Pasini, Barbara, Savoia, Paola

    مصطلحات موضوعية: genodermatoses, genetic skin disorders, auditory-pigmentary disorders, neurocristopathies, piebaldism, multilocus syndrome, KIT, 15q13.3 deletion

    العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000480658200032; volume:55; issue:7; firstpage:345; lastpage:354; numberofpages:10; journal:MEDICINA; http://hdl.handle.net/2318/1705672Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85069315964; https://www.mdpi.com/1010-660X/55/7/345Test

    الإتاحة: https://doi.org/10.3390/medicina55070345Test
    http://hdl.handle.net/2318/1705672Test
    https://www.mdpi.com/1010-660X/55/7/345Test

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  7. 7
    دورية أكاديمية
    Long-term efficacy of docosahexaenoic acid (DHA) for Spinocerebellar Ataxia 38 (SCA38) treatment: An open label extension study

    المؤلفون: Manes, Marta, Alberici, Antonella, Di Gregorio, Eleonora, Boccone, Loredana, Premi, Enrico, Mitro, Nico, Pasolini, Maria Pia, Pani, Claudia, Paghera, Barbara, Orsi, Laura, Costanzi, Chiara, Ferrero, Marta, Tempia, Filippo, Caruso, Donatella, Padovani, Alessando, Brusco, Alfredo, Borroni, Barbara

    المساهمون: Manes, Marta, Alberici, Antonella, Di Gregorio, Eleonora, Boccone, Loredana, Premi, Enrico, Mitro, Nico, Pasolini, Maria Pia, Pani, Claudia, Paghera, Barbara, Orsi, Laura, Costanzi, Chiara, Ferrero, Marta, Tempia, Filippo, Caruso, Donatella, Padovani, Alessando, Brusco, Alfredo, Borroni, Barbara*

    مصطلحات موضوعية: Ataxia, Cerebellum, Clinical trial, Docosahexaenoic acid (DHA), Spinocerebellar ataxia 38 (SCA38), Neurology, Geriatrics and Gerontology, Neurology (clinical)

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30862453; info:eu-repo/semantics/altIdentifier/wos/WOS:000482247500031; volume:63; firstpage:191; lastpage:194; numberofpages:4; journal:PARKINSONISM & RELATED DISORDERS; http://hdl.handle.net/2318/1694891Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85062498392; www.elsevier.com/locate/parkreldis

    الإتاحة: https://doi.org/10.1016/j.parkreldis.2019.02.040Test
    http://hdl.handle.net/2318/1694891Test

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  8. 8
    دورية أكاديمية
    Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy

    المؤلفون: Mancini, Cecilia, Giorgio, Elisa, Rubegni, Anna, Pradotto, Luca, Bagnoli, Silvia, Rubino, Elisa, Prontera, Paolo, Cavalieri, Simona, Di Gregorio, Eleonora, Ferrero, Marta, Pozzi, Elisa, Riberi, Evelise, Ferrero, Patrizia, Nigro, Pasquale, Mauro, Alessandro, Zibetti, Maurizio, Tessa, Alessandra, Barghigiani, Melissa, Antenora, Antonella, Sirchia, Fabio, Piacentini, Silvia, Silvestri, Gabriella, De Michele, Giuseppe, Filla, Alessandro, Orsi, Laura, Santorelli, Filippo Maria, Brusco, Alfredo

    المساهمون: Mancini, Cecilia, Giorgio, Elisa, Rubegni, Anna, Pradotto, Luca, Bagnoli, Silvia, Rubino, Elisa, Prontera, Paolo, Cavalieri, Simona, Di Gregorio, Eleonora, Ferrero, Marta, Pozzi, Elisa, Riberi, Evelise, Ferrero, Patrizia, Nigro, Pasquale, Mauro, Alessandro, Zibetti, Maurizio, Tessa, Alessandra, Barghigiani, Melissa, Antenora, Antonella, Sirchia, Fabio, Piacentini, Silvia, Silvestri, Gabriella, De Michele, Giuseppe, Filla, Alessandro, Orsi, Laura, Santorelli, Filippo Maria, Brusco, Alfredo

    مصطلحات موضوعية: SCAR, Ala510Val, SPG7, hereditary ataxia, paraplegin, spastic ataxia

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30098094; info:eu-repo/semantics/altIdentifier/wos/WOS:000452969300011; volume:26; issue:1; firstpage:80; lastpage:86; numberofpages:7; journal:EUROPEAN JOURNAL OF NEUROLOGY; http://hdl.handle.net/2318/1678964Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85052911703

    الإتاحة: https://doi.org/10.1111/ene.13768Test
    http://hdl.handle.net/2318/1678964Test

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  9. 9
    دورية أكاديمية
    Spontaneous remission in a Diamond-Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation

    المؤلفون: Garelli, Emanuela, Quarello, Paola, Giorgio, Elisa, Carando, Adriana, Menegatti, Elisa, Mancini, Cecilia, Di Gregorio, Eleonora, Crescenzio, Nicoletta, Palumbo, Orazio, Carella, Massimo, Dimartino, Paola, Pippucci, Tommaso, Dianzani, Irma, Ramenghi, Ugo, Brusco, Alfredo

    المساهمون: Garelli, Emanuela, Quarello, Paola, Giorgio, Elisa, Carando, Adriana, Menegatti, Elisa, Mancini, Cecilia, Di Gregorio, Eleonora, Crescenzio, Nicoletta, Palumbo, Orazio, Carella, Massimo, Dimartino, Paola, Pippucci, Tommaso, Dianzani, Irma, Ramenghi, Ugo, Brusco, Alfredo

    مصطلحات موضوعية: complete remission, Diamond-Blackfan, revertant mosaicism, RPS19, uniparental disomy, Hematology

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30460677; info:eu-repo/semantics/altIdentifier/wos/WOS:000472233600031; volume:185; firstpage:994; lastpage:998; numberofpages:5; journal:BRITISH JOURNAL OF HAEMATOLOGY; http://hdl.handle.net/2318/1692048Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85056756076; http://onlinelibrary.wiley.com/journal/10.1111Test/(ISSN)1365-2141

    الإتاحة: https://doi.org/10.1111/bjh.15688Test
    http://hdl.handle.net/2318/1692048Test

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  10. 10
    دورية أكاديمية
    In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia–Telangiectasia patients

    المؤلفون: Pozzi, Elisa, Giorgio, Elisa, Mancini, Cecilia, Lo Buono, Nicola, Augeri, Stefania, Ferrero, Marta, Di Gregorio, Eleonora, Riberi, Evelise, Vinciguerra, Maria, Nanetti, Lorenzo, Bianchi, Federico Tommaso, Sassi, Maria Paola, Costanzo, Vincenzo, Mariotti, Caterina, Funaro, Ada, Cavalieri, Simona, Brusco, Alfredo

    المساهمون: Fondazione Umberto Veronesi, Ministero dell’Istruzione, dell’Università e della Ricerca, Associazione “Gli Amici di Valentina” ONLUS Associazione “Gli Amici di” ONLUS

    المصدر: Scientific Reports ; volume 10, issue 1 ; ISSN 2045-2322

    مصطلحات موضوعية: Multidisciplinary

    الإتاحة: https://doi.org/10.1038/s41598-020-77352-zTest
    https://www.nature.com/articles/s41598-020-77352-z.pdfTest
    https://www.nature.com/articles/s41598-020-77352-zTest

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