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1دورية أكاديمية
المؤلفون: Valeria Guglielmi, Marta Cheli, Paola Tonin, Gaetano Vattemi
المصدر: International Journal of Molecular Sciences, Vol 25, Iss 5, p 2742 (2024)
مصطلحات موضوعية: sporadic inclusion body myositis (sIBM), muscle fiber degeneration, protein aggregation, inflammation, aging, inflammaging, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Paola De Filippi, Edoardo Errichiello, Antonio Toscano, Tiziana Mongini, Maurizio Moggio, Sabrina Ravaglia, Massimiliano Filosto, Serenella Servidei, Olimpia Musumeci, Fabio Giannini, Alberto Piperno, Gabriele Siciliano, Giulia Ricci, Antonio Di Muzio, Miriam Rigoldi, Paola Tonin, Michele Giovanni Croce, Elena Pegoraro, Luisa Politano, Lorenzo Maggi, Roberta Telese, Alberto Lerario, Cristina Sancricca, Liliana Vercelli, Claudio Semplicini, Barbara Pasanisi, Bruno Bembi, Andrea Dardis, Ilaria Palmieri, Cristina Cereda, Enza Maria Valente, Cesare Danesino
المصدر: Current Issues in Molecular Biology, Vol 45, Iss 4, Pp 2847-2860 (2023)
مصطلحات موضوعية: late-onset Pompe disease (LOPD), exonic variants, glycogen synthesis, glycogen catabolism, genotype–phenotype correlates, genetic modifiers, Biology (General), QH301-705.5
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Elena Cannone, Valeria Guglielmi, Giulia Marchetto, Chiara Tobia, Barbara Gnutti, Barbara Cisterna, Paola Tonin, Alessandro Barbon, Gaetano Vattemi, Marco Schiavone
المصدر: International Journal of Molecular Sciences, Vol 24, Iss 14, p 11483 (2023)
مصطلحات موضوعية: myotilin, αB-crystallin, myofibrillar myopathy, zebrafish model, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Claudia Dosi, Anna Rubegni, Jacopo Baldacci, Daniele Galatolo, Stefano Doccini, Guja Astrea, Angela Berardinelli, Claudio Bruno, Giorgia Bruno, Giacomo Pietro Comi, Maria Alice Donati, Maria Teresa Dotti, Massimiliano Filosto, Chiara Fiorillo, Fabio Giannini, Gian Luigi Gigli, Marina Grandis, Diego Lopergolo, Francesca Magri, Maria Antonietta Maioli, Alessandro Malandrini, Roberto Massa, Sabrina Matà, Federico Melani, Sonia Messina, Andrea Mignarri, Maurizio Moggio, Elena Maria Pennisi, Elena Pegoraro, Giulia Ricci, Michele Sacchini, Angelo Schenone, Simone Sampaolo, Monica Sciacco, Gabriele Siciliano, Giorgio Tasca, Paola Tonin, Rossella Tupler, Mariarosaria Valente, Nila Volpi, Denise Cassandrini, Filippo Maria Santorelli
المصدر: Genes, Vol 14, Iss 2, p 298 (2023)
مصطلحات موضوعية: RYR1-related myopathies, unsupervised cluster analysis, NGS, genotype–phenotype correlation, Genetics, QH426-470
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Gemma Marinella, Guja Astrea, Bianca Buchignani, Denise Cassandrini, Stefano Doccini, Massimiliano Filosto, Daniele Galatolo, Salvatore Gallone, Fabio Giannini, Diego Lopergolo, Maria Antonietta Maioli, Francesca Magri, Alessandro Malandrini, Paola Mandich, Francesco Mari, Roberto Massa, Sabrina Mata, Federico Melani, Maurizio Moggio, Tiziana E. Mongini, Rosa Pasquariello, Elena Pegoraro, Federica Ricci, Giulia Ricci, Carmelo Rodolico, Anna Rubegni, Gabriele Siciliano, Martina Sperti, Chiara Ticci, Paola Tonin, Filippo M. Santorelli, Roberta Battini
المصدر: International Journal of Molecular Sciences, Vol 23, Iss 23, p 14567 (2022)
مصطلحات موضوعية: COL6-RM, COL6A1, COL6A2, COL6A3, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Lorenzo Maggi, Raffaella Brugnoni, Eleonora Canioni, Paola Tonin, Veronica Saletti, Patrizia Sola, Stefano Cotti Piccinelli, Lara Colleoni, Paola Ferrigno, Antonella Pini, Riccardo Masson, Fiore Manganelli, Daniele Lietti, Liliana Vercelli, Giulia Ricci, Claudio Bruno, Giorgio Tasca, Antonio Pizzuti, Alessandro Padovani, Carlo Fusco, Elena Pegoraro, Lucia Ruggiero, Sabrina Ravaglia, Gabriele Siciliano, Lucia Morandi, Raffaele Dubbioso, Tiziana Mongini, Massimiliano Filosto, Irene Tramacere, Renato Mantegazza, Pia Bernasconi
المصدر: Frontiers in Neurology, Vol 11 (2020)
مصطلحات موضوعية: myotonia, periodic paralysis, SNEL, channelopathies, voltage-gated sodium channel NaV1.4, SCN4A gene mutation, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
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7دورية أكاديمية
المؤلفون: Matteo Chinello, Rita Balter, Massimiliano De Bortoli, Virginia Vitale, Ada Zaccaron, Elisa Bonetti, Paola Tonin, Gaetano Vattemi, Valeria Guglielmi, Simone Cesaro
المصدر: Mediterranean Journal of Hematology and Infectious Diseases, Vol 12, Iss 1 (2020)
مصطلحات موضوعية: Diseases of the blood and blood-forming organs, RC633-647.5
وصف الملف: electronic resource
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8دورية أكاديمية
المؤلفون: Chiara Ticci, Daniele Orsucci, Anna Ardissone, Luca Bello, Enrico Bertini, Irene Bonato, Claudio Bruno, Valerio Carelli, Daria Diodato, Stefano Doccini, Maria Alice Donati, Claudia Dosi, Massimiliano Filosto, Chiara Fiorillo, Chiara La Morgia, Costanza Lamperti, Silvia Marchet, Diego Martinelli, Carlo Minetti, Maurizio Moggio, Tiziana Enrica Mongini, Vincenzo Montano, Isabella Moroni, Olimpia Musumeci, Elia Pancheri, Elena Pegoraro, Guido Primiano, Elena Procopio, Anna Rubegni, Roberta Scalise, Monica Sciacco, Serenella Servidei, Gabriele Siciliano, Costanza Simoncini, Deborah Tolomeo, Paola Tonin, Antonio Toscano, Flavia Tubili, Michelangelo Mancuso, Roberta Battini, Filippo Maria Santorelli
المصدر: Journal of Clinical Medicine, Vol 10, Iss 10, p 2063 (2021)
مصطلحات موضوعية: mitochondrial disease, movement disorder, childhood onset, multicenter cross-sectional study, Medicine
وصف الملف: electronic resource
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9دورية أكاديمية
المؤلفون: Elia Pancheri, Valeria Guglielmi, Grzegorz M. Wilczynski, Manuela Malatesta, Paola Tonin, Giuliano Tomelleri, Dominika Nowis, Gaetano Vattemi
المصدر: Cancers, Vol 12, Iss 9, p 2540 (2020)
مصطلحات موضوعية: multiple myeloma, proteasome inhibitors, bortezomib, peripheral neuropathy, cardiotoxicity, muscle toxicity, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
وصف الملف: electronic resource
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10دورية أكاديمية
المؤلفون: Mauro Scarpelli, Anna Russignan, Melinda Zombor, Csaba Bereczki, Francesca Zappini, Romina Buono, Bridget E. Bax, Alessandro Padovani, Paola Tonin, Massimiliano Filosto
المصدر: Case Reports in Neurology, Vol 4, Iss 3, Pp 248-253 (2012)
مصطلحات موضوعية: Mitochondrial neurogastrointestinal encephalomyopathy, Thymidine phosphorylase, TYMP, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource