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1دورية 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
العلاقة: http://www.sciencedirect.com/science/article/pii/S2589537023001748Test; https://doaj.org/toc/2589-5370Test
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2دورية 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
العلاقة: https://doaj.org/toc/1750-1172Test
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3دورية 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
العلاقة: https://doaj.org/toc/2328-9503Test
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4دورية أكاديمية
المؤلفون: Anuradha Ramamoorthy, Jason H. Karnes, Richard Finkel, Rebecca Blanchard, Michael Pacanowski
المصدر: Clinical and Translational Science, Vol 12, Iss 6, Pp 560-563 (2019)
مصطلحات موضوعية: Therapeutics. Pharmacology, RM1-950, Public aspects of medicine, RA1-1270
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Giorgia Coratti (3142176), Costanza Cutrona (11560954), Maria Carmela Pera (3142173), Francesca Bovis (403189), Marta Ponzano (11167952), Fabrizia Chieppa (11560957), Laura Antonaci (3777199), Valeria Sansone (5429501), Richard Finkel (3769027), Marika Pane (289244), Eugenio Mercuri (10138499)
مصطلحات موضوعية: Medicine, Physiology, Biotechnology, Developmental Biology, Cancer, Science Policy, Mental Health, Chemical Sciences not elsewhere classified, Spinal muscular atrophy, Critical review, Nusinersen
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6دورية أكاديمية
المؤلفون: Giorgia Coratti (3142176), Costanza Cutrona (11560954), Maria Carmela Pera (3142173), Francesca Bovis (403189), Marta Ponzano (11167952), Fabrizia Chieppa (11560957), Laura Antonaci (3777199), Valeria Sansone (5429501), Richard Finkel (3769027), Marika Pane (289244), Eugenio Mercuri (10138499)
مصطلحات موضوعية: Medicine, Physiology, Biotechnology, Developmental Biology, Cancer, Science Policy, Mental Health, Chemical Sciences not elsewhere classified, Spinal muscular atrophy, Critical review, Nusinersen
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7
المؤلفون: Richard Finkel, Kamal Benguerba, Manish Gehani, Dheeraj Raju, Eric Faulkner, Nicole LaMarca, Laurent Servais
المصدر: Tuesday, April 25.
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::076d91fc628f0566570c9f2b1794f77fTest
https://doi.org/10.1212/wnl.0000000000202597Test -
8
المؤلفون: Laurent Servais, Kamal Benguerba, Darryl C. De Vivo, Jan Kirschner, Francesco Muntoni, Crystal Proud, Eduardo Tizzano, Susana Quijano-Roy, Isabelle Desguerre, Kyoko Saito, Dheeraj Raju, Nicole LaMarca, Rui Sun, Fred Anderson, Eric Faulkner, Richard Finkel
المصدر: Tuesday, April 25.
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::af67b105e56ec3c0cd99202160f6451cTest
https://doi.org/10.1212/wnl.0000000000202600Test -
9
المؤلفون: Nancy Kuntz, Julie Parsons, John F. Brandsema, Crystal Proud, Richard Finkel, Kathryn Swoboda, Ricardo Masson, Yingying Liu, Corinne Makepeace, Angela Paradis, Zdenek Berger, Kathleen Somera-Molina
المصدر: Tuesday, April 25.
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::e9011d92762584d90adf784c24373e8fTest
https://doi.org/10.1212/wnl.0000000000203152Test -
10
المؤلفون: Megan A. Waldrop, Steven A. Moore, Katherine D. Mathews, Benjamin W. Darbro, Livja Medne, Richard Finkel, Anne M. Connolly, Thomas O. Crawford, Daniel Drachman, Nicolas Wein, Ali A. Habib, Monika A. Krzesniak‐Swinarska, Craig M. Zaidman, James J. Collins, Manu Jokela, Bjarne Udd, John W. Day, Gloria Ortiz‐Guerrero, Jeff Statland, Russell J. Butterfield, Diane M. Dunn, Robert B. Weiss, Kevin M. Flanigan
المصدر: Hum Mutat
Human mutation, vol 43, iss 4مصطلحات موضوعية: Duchenne muscular dystrophy, Duchenne/ Becker Muscular Dystrophy, pseudoexon, deep intronic, Intellectual and Developmental Disabilities (IDD), Clinical Sciences, Article, Dystrophin, Rare Diseases, Genetics, Humans, Muscular Dystrophy, Genetics (clinical), transcription termination, Pediatric, Genetics & Heredity, Human Genome, telescripting, Duchenne, Introns, Brain Disorders, Muscular Dystrophy, Duchenne, Becker muscular dystrophy, Musculoskeletal, Mutation, RNA Splice Sites, Biotechnology
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd9339c60faf200ac6ffe2bfe97b06d1Test
https://doi.org/10.1002/humu.24343Test