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1دورية أكاديميةCase report: A novel ACTA1 variant in a patient with nemaline rods and increased glycogen deposition
المؤلفون: Piga, Daniela, Rimoldi, Martina, Magri, Francesca, Zanotti, Simona, Napoli, Laura, Ripolone, Michela, Pagliarani, Serena, Ciscato, Patrizia, Velardo, Daniele, D’Amico, Adele, Bertini, Enrico, Comi, Giacomo Pietro, Ronchi, Dario, Corti, Stefania
المصدر: Frontiers in Neurology ; volume 15 ; ISSN 1664-2295
مصطلحات موضوعية: Neurology (clinical), Neurology
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2دورية أكاديمية
المؤلفون: Mistretta, Miriam, Fiorito, Veronica, Allocco, Anna Lucia, Ammirata, Giorgia, Hsu, Myriam Y., Digiovanni, Sabrina, Belicchi, Marzia, Napoli, Laura, Ripolone, Michela, Trombetta, Elena, Mauri, PierLuigi, Farini, Andrea, Meregalli, Mirella, Villa, Chiara, Porporato, Paolo Ettore, Miniscalco, Barbara, Crich, Simonetta Geninatti, Riganti, Chiara, Torrente, Yvan, Tolosano, Emanuela
المصدر: Cell Reports ; volume 43, issue 3, page 113854 ; ISSN 2211-1247
مصطلحات موضوعية: General Biochemistry, Genetics and Molecular Biology
الإتاحة: https://doi.org/10.1016/j.celrep.2024.113854Test
https://api.elsevier.com/content/article/PII:S2211124724001827?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2211124724001827?httpAccept=text/plainTest -
3دورية أكاديمية
المؤلفون: Zanotti, Simona, Magri, Francesca, Salani, Sabrina, Napoli, Laura, Ripolone, Michela, Ronchi, Dario, Fortunato, Francesco, Ciscato, Patrizia, Velardo, Daniele, D'Angelo, Maria Grazia, Gualandi, Francesca, Nigro, Vincenzo, Sciacco, Monica, Corti, Stefania, Comi, Giacomo Pietro, Piga, Daniela
المساهمون: S. Zanotti, F. Magri, S. Salani, L. Napoli, M. Ripolone, D. Ronchi, F. Fortunato, P. Ciscato, D. Velardo, M.G. D'Angelo, F. Gualandi, V. Nigro, M. Sciacco, S. Corti, G.P. Comi, D. Piga
مصطلحات موضوعية: COL6-RM, collagen type VI, electron microscopy, extracellular matrix, Settore MED/26 - Neurologia
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36982625; info:eu-repo/semantics/altIdentifier/wos/WOS:000957948800001; volume:24; issue:6; firstpage:1; lastpage:14; numberofpages:14; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; https://hdl.handle.net/2434/970679Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85151108621
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4دورية أكاديمية
المؤلفون: Ripolone, Michela, Zanotti, Simona, Napoli, Laura, Ronchi, Dario, Ciscato, Patrizia, Comi, Giacomo Pietro, Moggio, Maurizio, Sciacco, Monica
المساهمون: M. Ripolone, S. Zanotti, L. Napoli, D. Ronchi, P. Ciscato, G.P. Comi, M. Moggio, M. Sciacco
مصطلحات موضوعية: MERRF, central nervous system, lipoma, Settore MED/26 - Neurologia
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36675808; info:eu-repo/semantics/altIdentifier/wos/WOS:000918249200001; volume:13; issue:1; firstpage:1; lastpage:7; numberofpages:7; journal:JOURNAL OF PERSONALIZED MEDICINE; https://hdl.handle.net/2434/1020331Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85146769971
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5دورية أكاديمية
المؤلفون: Magri, Francesca, Napoli, Laura, Ripolone, Michela, Ciscato, Patrizia, Moggio, Maurizio, Corti, Stefania, Comi, Giacomo Pietro, Sciacco, Monica, Zanotti, Simona
المساهمون: F. Magri, L. Napoli, M. Ripolone, P. Ciscato, M. Moggio, S. Corti, G.P. Comi, M. Sciacco, S. Zanotti
مصطلحات موضوعية: atrophy, biomarker, fibrosi, inflammation, limb girdle muscle dystrophy, miRNA, Settore MED/26 - Neurologia
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38139231; info:eu-repo/semantics/altIdentifier/wos/WOS:001130808400001; volume:24; issue:24; firstpage:1; lastpage:19; numberofpages:19; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; https://hdl.handle.net/2434/1022508Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85180672319
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6دورية أكاديمية
المؤلفون: Ferrari Aggradi, Carola Rita, Rimoldi, Martina, Romagnoli, Gloria, Velardo, Daniele, Meneri, Megi, Iacobucci, Davide, Ripolone, Michela, Napoli, Laura, Ciscato, Patrizia, Moggio, Maurizio, Comi, Giacomo Pietro, Ronchi, Dario, Corti, Stefania, Abati, Elena
المساهمون: C.R. Ferrari Aggradi, M. Rimoldi, G. Romagnoli, D. Velardo, M. Meneri, D. Iacobucci, M. Ripolone, L. Napoli, P. Ciscato, M. Moggio, G.P. Comi, D. Ronchi, S. Corti, E. Abati
مصطلحات موضوعية: EPM2A, EPM2B, Lafora bodie, Lafora disease, laforin, malin, therapeutic strategie, tonic–clonic seizures, Settore MED/26 - Neurologia
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38137127; info:eu-repo/semantics/altIdentifier/wos/WOS:001132109100001; volume:13; issue:12; firstpage:1; lastpage:13; numberofpages:13; journal:BRAIN SCIENCES; https://hdl.handle.net/2434/1022509Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85180437677
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7دورية أكاديمية
المؤلفون: Zanotti, Simona, Ripolone, Michela, Napoli, Laura, Velardo, Daniele, Salani, Sabrina, Ciscato, Patrizia, Priori, Silvia, Kukavica, Deni, Mazzanti, Andrea, Diamanti, Luca, Vegezzi, Elisa, Moggio, Maurizio, Corti, Stefania, Comi, Giacomo, Sciacco, Monica
المساهمون: S. Zanotti, M. Ripolone, L. Napoli, D. Velardo, S. Salani, P. Ciscato, S. Priori, D. Kukavica, A. Mazzanti, L. Diamanti, E. Vegezzi, M. Moggio, S. Corti, G. Comi, M. Sciacco
مصطلحات موضوعية: Arg14del, aggresome, phospholamban, skeletal muscle, Settore MED/26 - Neurologia
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37408239; info:eu-repo/semantics/altIdentifier/wos/WOS:000998138600001; volume:12; issue:10; firstpage:1; lastpage:17; numberofpages:17; journal:CELLS; https://hdl.handle.net/2434/1020316Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85160588135
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8دورية أكاديمية
المؤلفون: Piga, Daniela, Zanotti, Simona, Ripolone, Michela, Napoli, Laura, Ciscato, Patrizia, Gibertini, Sara, Maggi, Lorenzo, Fortunato, Francesco, Rigamonti, Andrea, Ronchi, Dario, Comi, Giacomo Pietro, Corti, Stefania, Sciacco, Monica
المصدر: International Journal of Molecular Sciences; Jun2024, Vol. 25 Issue 12, p6547, 9p
مصطلحات موضوعية: INCLUSION body myositis, CELLULAR inclusions, NEMALINE myopathy, MUSCLE weakness, MYOSITIS, MUSCLE diseases, NUCLEOTIDE sequencing
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9دورية أكاديمية
المؤلفون: Piga, Daniela, Zanotti, Simona, Ripolone, Michela, Napoli, Laura, Ciscato, Patrizia, Gibertini, Sara, Maggi, Lorenzo, Fortunato, Francesco, Rigamonti, Andrea, Ronchi, Dario, Comi, Giacomo Pietro, Corti, Stefania, Sciacco, Monica
المصدر: Int J Mol Sci ; ISSN:1422-0067 ; Volume:25 ; Issue:12
مصطلحات موضوعية: ZASP/LDB3, core-like alterations, inclusion body myositis, next-generation sequencing, rimmed vacuoles
العلاقة: https://doi.org/10.3390/ijms25126547Test; https://pubmed.ncbi.nlm.nih.gov/38928252Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11203685Test/
الإتاحة: https://doi.org/10.3390/ijms25126547Test
https://pubmed.ncbi.nlm.nih.gov/38928252Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11203685Test/ -
10دورية أكاديمية
المؤلفون: Donkervoort, Sandra, van de Locht, Martijn, Ronchi, Dario, Reunert, Janine, McLean, Catriona A., Zaki, Maha, Orbach, Rotem, de Winter, Josine M., Conijn, Stefan, Hoomoedt, Daan, Neto, Osorio Lopes Abath, Magri, Francesca, Viaene, Angela N., Foley, A. Reghan, Gorokhova, Svetlana, Bolduc, Véronique, Hu, Ying, Acquaye, Nicole, Napoli, Laura, Park, Julien H., Immadisetty, Kalyan, Miles, Lee B., Essawi, Mona, McModie, Salar, Ferreira, Leonardo F., Zanotti, Simona, Neuhaus, Sarah B., Medne, Livija, ElBagoury, Nagham, Johnson, Kory R., Zhang, Yong, Laing, Nigel G., Davis, Mark R., Bryson-Richardson, Robert J., Hwee, Darren T., Hartman, James J., Malik, Fady I., Kekenes-Huskey, Peter M., Comi, Giacomo Pietro, Sharaf-Eldin, Wessam, Marquardt, Thorsten, Ravenscroft, Gianina, Bönnemann, Carsten G., Ottenheijm, Coen A. C.
المصدر: Science Translational Medicine ; volume 16, issue 741 ; ISSN 1946-6234 1946-6242
مصطلحات موضوعية: General Medicine
النص الكامل