المؤلفون: Crystal M. Proud, Eugenio Mercuri, Richard S. Finkel, Janbernd Kirschner, Darryl C. De Vivo, Francesco Muntoni, Kayoko Saito, Eduardo F. Tizzano, Isabelle Desguerre, Susana Quijano‐Roy, Kamal Benguerba, Dheeraj Raju, Eric Faulkner, Laurent Servais

المصدر: Annals of Clinical and Translational Neurology, Vol 10, Iss 11, Pp 2155-2160 (2023)

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

الوصول الحر: https://doaj.org/article/ef602e623038483db8127100cc3b1503Test

المؤلفون: Craig M. McDonald, James Signorovitch, Eugenio Mercuri, Erik H. Niks, Brenda Wong, Mirko Fillbrunn, Gautam Sajeev, Erica Yim, Ibrahima Dieye, Debra Miller, Susan J. Ward, Nathalie Goemans

المصدر: PLoS ONE, Vol 19, Iss 6 (2024)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11146704/?tool=EBITest; https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/85e149c658874162816c67e135ac7921Test

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

العلاقة: https://www.frontiersin.org/articles/10.3389/fped.2023.1276144/fullTest; https://doaj.org/toc/2296-2360Test

الوصول الحر: https://doaj.org/article/d6293b8374f64b7d95d99c31ccc2a58aTest

المؤلفون: Claudia A. Chiriboga, Claudio Bruno, Tina Duong, Dirk Fischer, Eugenio Mercuri, Janbernd Kirschner, Anna Kostera-Pruszczyk, Birgit Jaber, Ksenija Gorni, Heidemarie Kletzl, Imogen Carruthers, Carmen Martin, Francis Warren, Renata S. Scalco, Kathryn R. Wagner, Francesco Muntoni, the JEWELFISH Study Group

المصدر: Neurology and Therapy, Vol 12, Iss 2, Pp 543-557 (2023)

مصطلحات موضوعية: Evrysdi, Pharmacodynamics, Risdiplam, Safety, Spinal muscular atrophy, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2193-8253Test; https://doaj.org/toc/2193-6536Test

الوصول الحر: https://doaj.org/article/cf9aa173befd4087b4e4bc7cce3e9e84Test

المؤلفون: Claudia A. Chiriboga, Claudio Bruno, Tina Duong, Dirk Fischer, Eugenio Mercuri, Janbernd Kirschner, Anna Kostera-Pruszczyk, Birgit Jaber, Ksenija Gorni, Heidemarie Kletzl, Imogen Carruthers, Carmen Martin, Francis Warren, Renata S. Scalco, Kathryn R. Wagner, Francesco Muntoni, the JEWELFISH Study Group

المصدر: Neurology and Therapy, Vol 12, Iss 5, Pp 1799-1801 (2023)

مصطلحات موضوعية: Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2193-8253Test; https://doaj.org/toc/2193-6536Test

الوصول الحر: https://doaj.org/article/258bc786e54b4365b79dbe9dd14b5d86Test

المؤلفون: Domenico Marco Romeo, Marianna Moro, Mariangela Pezone, Ilaria Venezia, Federica Mirra, Margherita De Biase, Agnese Polo, Ida Turrini, Maria Rosaria Lala, Chiara Velli, Francesca Sini, Domenico Dragone, Eugenio Mercuri, Claudia Brogna

المصدر: Journal of Personalized Medicine, Vol 13, Iss 12, p 1723 (2023)

مصطلحات موضوعية: join hypermobility, autism spectrum disorder, cognitive assessment, Medicine

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2075-4426/13/12/1723Test; https://doaj.org/toc/2075-4426Test

الوصول الحر: https://doaj.org/article/96b7ca26124e46099a724564c8249ffdTest

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

الوصول الحر: https://doaj.org/article/40165d9821824625a9a6285a88f2fdbcTest

المؤلفون: Richard S. Finkel, Monique M. Ryan, Samuel Ignacio Pascual Pascual, John W. Day, Eugenio Mercuri, Darryl C. De Vivo, Richard Foster, Jacqueline Montes, Juliana Gurgel‐Giannetti, Drew MacCannell, Zdenek Berger

المصدر: Annals of Clinical and Translational Neurology, Vol 9, Iss 6, Pp 819-829 (2022)

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

الوصول الحر: https://doaj.org/article/0511be6ebada4f91a7caec4dbaa8c369Test

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

العلاقة: https://doaj.org/toc/2051-5960Test

الوصول الحر: https://doaj.org/article/3ed5f40b63494afb99f982bee9a3292aTest

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

العلاقة: https://doaj.org/toc/2328-9503Test

الوصول الحر: https://doaj.org/article/ca19ba70fc7d4dc28c30c6fa96bec970Test