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1دورية أكاديمية
المؤلفون: Beatrice Berti, Daniela Verrigni, Alessia Nasca, Michela Di Nottia, Daniela Leone, Alessandra Torraco, Teresa Rizza, Emanuele Bellacchio, Andrea Legati, Concetta Palermo, Silvia Marchet, Costanza Lamperti, Antonio Novelli, Eugenio Maria Mercuri, Enrico Silvio Bertini, Marika Pane, Daniele Ghezzi, Rosalba Carrozzo
المصدر: International Journal of Molecular Sciences, Vol 25, Iss 14, p 7782 (2024)
مصطلحات موضوعية: DNM1L, cardiomyopathy, mitochondrial disorders, paroxysmal vomiting, mitochondrial dynamics, mitochondrial fission, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Eugenio Mercuri, Marika Pane, Gianpaolo Cicala, Claudia Brogna, Emma Ciafaloni
المصدر: Frontiers in Pediatrics, Vol 11 (2023)
مصطلحات موضوعية: Duchenne muscular dystrophy, delayed diagnosis, time to diagnosis, physical milestones, developmental milestones, Pediatrics, RJ1-570
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Marika Pane, Beatrice Berti, Anna Capasso, Giorgia Coratti, Antonio Varone, Adele D’Amico, Sonia Messina, Riccardo Masson, Valeria Ada Sansone, Maria Alice Donati, Caterina Agosto, Claudio Bruno, Federica Ricci, Antonella Pini, Delio Gagliardi, Massimiliano Filosto, Stefania Corti, Daniela Leone, Concetta Palermo, Roberta Onesimo, Roberto De Sanctis, Martina Ricci, Ilaria Bitetti, Maria Sframeli, Claudia Dosi, Emilio Albamonte, Chiara Ticci, Noemi Brolatti, Enrico Bertini, Richard Finkel, Eugenio Mercuri, Maria Carmela Pera, Chiara Bravetti, Marco Piastra, Orazio Genovese, Gianpaolo Cicala, Nicola Forcina, Sara Carnicella, Giulia Stanca, Michele Sacchini, Michela Catteruccia, Michele Tosi, Renato Cutrera, Claudio Chierchi, Maria Beatrice Chiarini, Francesca Salmin, Marina Pedemonte, Alessandra Govoni, Irene Mizzoni, Simone Morando, Riccardo Zanin, Enrica Rolle, Eleonora Salomon, Melania Giannotta, Gaia Scarpini, Antonio Toscano, Eloisa Gitto, Roberto Materia, Rossella D’Alessandro
المصدر: EClinicalMedicine, Vol 59, Iss , Pp 101997- (2023)
مصطلحات موضوعية: Spinal muscular atrophy, Gene therapy, Follow-up, Longitudinal, Safety, Medicine (General), R5-920
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Aurora Fusto, Denise Cassandrini, Chiara Fiorillo, Valentina Codemo, Guja Astrea, Adele D’Amico, Lorenzo Maggi, Francesca Magri, Marika Pane, Giorgio Tasca, Daniele Sabbatini, Luca Bello, Roberta Battini, Pia Bernasconi, Fabiana Fattori, Enrico Silvio Bertini, Giacomo Comi, Sonia Messina, Tiziana Mongini, Isabella Moroni, Chiara Panicucci, Angela Berardinelli, Alice Donati, Vincenzo Nigro, Antonella Pini, Melania Giannotta, Claudia Dosi, Enzo Ricci, Eugenio Mercuri, Giovanni Minervini, Silvio Tosatto, Filippo Santorelli, Claudio Bruno, Elena Pegoraro
المصدر: Acta Neuropathologica Communications, Vol 10, Iss 1, Pp 1-20 (2022)
مصطلحات موضوعية: RYR1-related myopathies, Central core disease, Multi-minicore disease, Genotype–phenotype correlations, Neuromuscular disorder, Protein modelling, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2051-5960
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5دورية أكاديمية
المؤلفون: Massimiliano Orso, Antonio Migliore, Barbara Polistena, Eleonora Russo, Francesca Gatto, Mauro Monterubbianesi, Daniela d’Angela, Federico Spandonaro, Marika Pane
المصدر: PLoS ONE, Vol 18, Iss 6 (2023)
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Marika Pane, Giorgia Coratti, Maria Carmela Pera, Valeria A. Sansone, Sonia Messina, Adele d'Amico, Claudio Bruno, Francesca Salmin, Emilio Albamonte, Roberto De Sanctis, Maria Sframeli, Vincenzo Di Bella, Simone Morando, Concetta Palermo, Anna Lia Frongia, Laura Antonaci, Anna Capasso, Michela Catteruccia, Antonella Longo, Martina Ricci, Costanza Cutrona, Alice Pirola, Chiara Bravetti, Marina Pedemonte, Noemi Brolatti, Enrico Bertini, Eugenio Mercuri, Italian ISMAC group
المصدر: Annals of Clinical and Translational Neurology, Vol 9, Iss 3, Pp 404-409 (2022)
مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2328-9503
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7دورية أكاديمية
المؤلفون: Giorgia Coratti, Costanza Cutrona, Maria Carmela Pera, Francesca Bovis, Marta Ponzano, Fabrizia Chieppa, Laura Antonaci, Valeria Sansone, Richard Finkel, Marika Pane, Eugenio Mercuri
المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-12 (2021)
مصطلحات موضوعية: Spinal muscular atrophy, Critical review, Nusinersen, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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8دورية أكاديمية
المؤلفون: Maria Carmela Pera, Giorgia Coratti, Francesca Bovis, Marika Pane, Amy Pasternak, Jacqueline Montes, Valeria A. Sansone, Sally Dunaway Young, Tina Duong, Sonia Messina, Irene Mizzoni, Adele D’Amico, Matthew Civitello, Allan M. Glanzman, Claudio Bruno, Francesca Salmin, Simone Morando, Roberto De Sanctis, Maria Sframeli, Laura Antonaci, Anna Lia Frongia, Annemarie Rohwer, Mariacristina Scoto, Darryl C. De Vivo, Basil T. Darras, John Day, William Martens, Katia A. Patanella, Enrico Bertini, Francesco Muntoni, Richard Finkel, Eugenio Mercuri, the iSMAC group
المصدر: Annals of Clinical and Translational Neurology, Vol 8, Iss 8, Pp 1622-1634 (2021)
مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2328-9503
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9دورية أكاديمية
المؤلفون: Maria Carmela Pera, Giorgia Coratti, Jacopo Casiraghi, Chiara Bravetti, Alessandro Fedeli, Milija Strika, Emilio Albamonte, Laura Antonaci, Diletta Rossi, Marika Pane, Valeria Ada Sansone, Eugenio Mercuri
المصدر: Journal of Clinical Medicine, Vol 12, Iss 13, p 4183 (2023)
مصطلحات موضوعية: spinal muscular atrophy, quality of life, caregiver, clinical trials, Medicine
وصف الملف: electronic resource
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10دورية أكاديمية
المؤلفون: Claudia Brogna, Marika Pane, Giorgia Coratti, Adele D’Amico, Elena Pegoraro, Luca Bello, Valeria Ada Maria Sansone, Emilio Albamonte, Sonia Messina, Antonella Pini, Maria Grazia D’Angelo, Claudio Bruno, Tiziana Mongini, Federica Silvia Ricci, Angela Berardinelli, Roberta Battini, Riccardo Masson, Enrico Silvio Bertini, Luisa Politano, Eugenio Mercuri, Italian DMD Group
المصدر: Children, Vol 10, Iss 4, p 746 (2023)
مصطلحات موضوعية: DMD, PUL 2.0, exon skipping, Pediatrics, RJ1-570
وصف الملف: electronic resource