يعرض 1 - 10 نتائج من 65 نتيجة بحث عن '"Del Giudice, Elda"', وقت الاستعلام: 0.86s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Evaluating the contribution of the gene TARDBP in Italian patients with amyotrophic lateral sclerosis

    المؤلفون: Lattante, Serena, Sabatelli, Mario, Bisogni, Giulia, Marangi, Giuseppe, Doronzio, Paolo Niccolò, Martello, Francesco, Renzi, Anna Gloria, Del Giudice, Elda, Leon, Alberta, Cimbolli, Paola, Marchione, Daniela, Costantino, Umberto, Lucioli, Gabriele, Bernardo, Daniela, Meleo, Emiliana, Patanella, Agata Katia, Romano, Angela, Zollino, Marcella, Conte, Amelia

    المصدر: European Journal of Neurology ; volume 30, issue 5, page 1246-1255 ; ISSN 1351-5101 1468-1331

    الإتاحة: https://doi.org/10.1111/ene.15727Test

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  2. 2
    دورية أكاديمية
    Genetics screening in an Italian cohort of patients with Amyotrophic Lateral Sclerosis: the importance of early testing and its implication.

    المؤلفون: Libonati, Laura, Cambieri, Chiara, Colavito, Davide, Moret, Federica, D'Andrea, Edoardo, Del Giudice, Elda, Leon, Alberta, Inghilleri, Maurizio, Ceccanti, Marco

    المصدر: Journal of Neurology; Apr2024, Vol. 271 Issue 4, p1921-1936, 16p

    مصطلحات موضوعية: FRONTOTEMPORAL lobar degeneration, AMYOTROPHIC lateral sclerosis, MEDICAL screening, NEUROMUSCULAR diseases, GENETICS, GENETIC counseling


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  3. 3
    دورية أكاديمية
    IL-18 cDNA Vaccination Protects Mice from Spontaneous Lupus-like Autoimmune Disease

    المؤلفون: Bossù, Paola, Neumann, Detlef, Del Giudice, Elda, Ciaramella, Antonio, Gloaguen, Isabelle, Fantuzzi, Giamila, Dinarello, Charles A., Di Carlo, Emma, Musiani, Piero, Meroni, Pier Luigi, Caselli, Gianfranco, Ruggiero, Paolo, Boraschi, Diana

    المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2003 Nov . 100(24), 14181-14186.

    الوصول الحر: https://www.jstor.org/stable/3148932Test

    النص الكامل

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  4. 4
    دورية أكاديمية
    A novel CACNA1A R2201W variant in a woman with hemiplegic migraine.

    المؤلفون: Baso, Giacomo, Mele, Francesco, Del Giudice, Elda, Leon, Alberta, Pantoni, Leonardo

    المصدر: Neurological Sciences; Sep2023, Vol. 44 Issue 9, p3299-3302, 4p, 1 Black and White Photograph

    مصطلحات موضوعية: MIGRAINE aura, MIGRAINE, LEUKOENCEPHALOPATHIES, GENETIC variation, MAGNETIC resonance imaging, CEREBRAL small vessel diseases


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  5. 5
    دورية أكاديمية
    Genetics screening in an Italian cohort of patients with Amyotrophic Lateral Sclerosis: the importance of early testing and its implication

    المؤلفون: Libonati, Laura, Cambieri, Chiara, Colavito, Davide, Moret, Federica, D’Andrea, Edoardo, Del Giudice, Elda, Leon, Alberta, Inghilleri, Maurizio, Ceccanti, Marco

    المصدر: Journal of Neurology ; ISSN 0340-5354 1432-1459

    مصطلحات موضوعية: Neurology (clinical), Neurology

    الإتاحة: https://doi.org/10.1007/s00415-023-12142-xTest

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  6. 6
    دورية أكاديمية
    A novel compound heterozygous mutation in GALC associated with adult-onset Krabbe disease: case report and literature review

    المؤلفون: Iacono, Salvatore, Del Giudice, Elda, Leon, Alberta, La Bella, Vincenzo, Spataro, Rossella

    المصدر: neurogenetics ; volume 23, issue 2, page 157-165 ; ISSN 1364-6753

    مصطلحات موضوعية: Cellular and Molecular Neuroscience, Genetics (clinical), Genetics

    الإتاحة: https://doi.org/10.1007/s10048-021-00682-1Test

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  7. 7
    دورية أكاديمية
    Novel variants and cellular studies on patients' primary fibroblasts support a role for NEK1 missense variants in ALS pathogenesis

    المؤلفون: Lattante, Serena, Doronzio, Paolo Niccolò, Conte, Amelia, Marangi, Giuseppe, Martello, Francesco, Bisogni, Giulia, Meleo, Emiliana, Colavito, Davide, Del Giudice, Elda, Patanella, Agata Katia, Bernardo, Daniela, Romano, Angela, Zollino, Marcella, Sabatelli, Mario

    المساهمون: Lattante, Serena, Doronzio, Paolo Niccolò, Conte, Amelia, Marangi, Giuseppe, Martello, Francesco, Bisogni, Giulia, Meleo, Emiliana, Colavito, Davide, Del Giudice, Elda, Patanella, Agata Katia, Bernardo, Daniela, Romano, Angela, Zollino, Marcella, Sabatelli, Mario

    وصف الملف: STAMPA

    العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000648942100007; volume:30; firstpage:65; lastpage:71; numberofpages:7; journal:HUMAN MOLECULAR GENETICS ONLINE; https://hdl.handle.net/11587/499648Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85104160361

    الإتاحة: https://doi.org/10.1093/hmg/ddab015Test
    https://hdl.handle.net/11587/499648Test

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  8. 8
    دورية أكاديمية
    Lymphocytes from Autoimmune MRL lpr/lpr Mice Are Hyperresponsive to IL-18 and Overexpress the IL-18 Receptor Accessory Chain

    المؤلفون: Neumann, Detlef, Del Giudice, Elda, Ciaramella, Antonio, Boraschi, Diana, Bossù, Paola

    مصطلحات موضوعية: Immunology, Immunology and Allergy

    العلاقة: url:https://www.openaccessrepository.it/communities/itmirrorTest; https://www.openaccessrepository.it/record/197356Test

    الإتاحة: https://doi.org/10.4049/jimmunol.166.6.3757Test
    https://www.openaccessrepository.it/record/197356Test

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  9. 9
    دورية أكاديمية
    Are CSNK2A1 gene mutations associated with retinal dystrophy? Report of a patient carrier of a novel de novo splice site mutation

    المؤلفون: Colavito, Davide, Del Giudice, Elda, Ceccato, Chiara, Dalle Carbonare, Maurizio, Leon, Alberta, Suppiej, Agnese

    المساهمون: Colavito, Davide, Del Giudice, Elda, Ceccato, Chiara, Dalle Carbonare, Maurizio, Leon, Alberta, Suppiej, Agnese

    مصطلحات موضوعية: Genetic, Genetics (clinical)

    وصف الملف: STAMPA

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29568000; info:eu-repo/semantics/altIdentifier/wos/WOS:000433227000014; volume:63; issue:6; firstpage:779; lastpage:781; numberofpages:3; journal:JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11392/2388110Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85044304034; https://www.nature.com/articles/s10038-018-0434-yTest

    الإتاحة: https://doi.org/10.1038/s10038-018-0434-yTest
    http://hdl.handle.net/11392/2388110Test
    https://www.nature.com/articles/s10038-018-0434-yTest

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  10. 10
    دورية أكاديمية
    Longitudinal analysis of immune cell phenotypes in early stage multiple sclerosis: distinctive patterns characterize MRI-active patients

    المؤلفون: Rinaldi, Luciano, Gallo, Paolo, Calabrese, Massimiliano, Ranzato, Federica, Luise, Diego, Colavito, Davide, Motta, Matteo, Guglielmo, Anna, Del Giudice, Elda, Romualdi, Chiara, Ragazzi, Eugenio, D’Arrigo, Antonello, Dalle Carbonare, Maurizio, Leontino, Battistin, Leon, Alberta

    مصطلحات موضوعية: Original Articles

    وصف الملف: text/html

    العلاقة: http://brain.oxfordjournals.org/cgi/content/short/129/8/1993Test; http://dx.doi.org/10.1093/brain/awl179Test

    الإتاحة: https://doi.org/10.1093/brain/awl179Test
    http://brain.oxfordjournals.org/cgi/content/short/129/8/1993Test

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