المؤلفون: Fernanda Fortunato, Francesca Bianchi, Giulia Ricci, Francesca Torri, Francesca Gualandi, Marcella Neri, Marianna Farnè, Fabio Giannini, Alessandro Malandrini, Nila Volpi, Diego Lopergolo, Vincenzo Silani, Nicola Ticozzi, Federico Verde, Davide Pareyson, Silvia Fenu, Silvia Bonanno, Vincenzo Nigro, Cristina Peduto, Paola D’Ambrosio, Roberta Zeuli, Mariateresa Zanobio, Esther Picillo, Serenella Servidei, Guido Primiano, Cristina Sancricca, Monica Sciacco, Roberta Brusa, Massimiliano Filosto, Stefano Cotti Piccinelli, Elena Pegoraro, Tiziana Mongini, Luca Solero, Giulio Gadaleta, Chiara Brusa, Carlo Minetti, Claudio Bruno, Chiara Panicucci, Valeria A. Sansone, Christian Lunetta, Alice Zanolini, Antonio Toscano, Alessia Pugliese, Giulia Nicocia, Enrico Bertini, Michela Catteruccia, Daria Diodato, Antonio Atalaia, Teresinha Evangelista, Gabriele Siciliano, Alessandra Ferlini

المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-7 (2023)

مصطلحات موضوعية: Telemedicine, CPMS, ERN, Rare diseases, Digital health, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/a63c0e0266e34366b30660e184a94201Test

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: 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

المؤلفون: Domenico Umberto De Rose, Sara Ronci, Stefano Caoci, Chiara Maddaloni, Daria Diodato, Michela Catteruccia, Fabiana Fattori, Luca Bosco, Stefano Pro, Immacolata Savarese, Iliana Bersani, Franco Randi, Marilena Trozzi, Duino Meucci, Flaminia Calzolari, Guglielmo Salvatori, Agostina Solinas, Andrea Dotta, Francesca Campi

المصدر: Journal of Personalized Medicine; Volume 13; Issue 5; Pages: 798

مصطلحات موضوعية: congenital myasthenia, stridor, MUSK, RASPN, DOK7, neonate, next-generation sequencing

وصف الملف: application/pdf

العلاقة: Clinical Medicine, Cell, and Organism Physiology; https://dx.doi.org/10.3390/jpm13050798Test

الإتاحة: https://doi.org/10.3390/jpm13050798Test

المؤلفون: Marika Pane, Giorgia Coratti, Valeria A. Sansone, Sonia Messina, Michela Catteruccia, Claudio Bruno, Maria Sframeli, Emilio Albamonte, Marina Pedemonte, Adele D’Amico, Chiara Bravetti, Beatrice Berti, Concetta Palermo, Daniela Leone, Giorgia Brigati, Paola Tacchetti, Francesca Salmin, Roberto De Sanctis, Simona Lucibello, Maria Carmela Pera, Marco Piastra, Orazio Genovese, Enrico Bertini, Gianluca Vita, Francesco Danilo Tiziano, Eugenio Mercuri, the Italian EAP Working Group

المصدر: Annals of Clinical and Translational Neurology, Vol 8, Iss 3, Pp 548-557 (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

الوصول الحر: https://doaj.org/article/21f37327eb0f4e088a3f71a02ca0497dTest

المؤلفون: Michele Tosi, Francesca Cumbo, Michela Catteruccia, Adelina Carlesi, Irene Mizzoni, Giacomo De Luca, Claudio Cherchi, Renato Cutrera, Enrico Bertini, Adele D'Amico

المصدر: European Journal of Paediatric Neurology. 43:36-43

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health, Neurology (clinical), General Medicine

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::e0a1a7cc34778c1ebc640a3efe8ed97aTest
https://doi.org/10.1016/j.ejpn.2023.02.004Test

المؤلفون: Francesca Cumbo, Michele Tosi, Michela Catteruccia, Daria Diodato, Francesco Nicita, Teresa Grimaldi Capitello, Paolo Alfieri, Stefano Vicari, Enrico Bertini, Adele D'Amico

المصدر: Neuromuscular Disorders. 32:736-742

مصطلحات موضوعية: Dystrophin, Muscular Dystrophy, Duchenne, Cognition, Cross-Sectional Studies, Adolescent, Neurology, Pediatrics, Perinatology and Child Health, Humans, Neurology (clinical), Neuropsychological Tests, Child, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39f5ec05e24f16ba265290189ffb6737Test
https://doi.org/10.1016/j.nmd.2022.07.402Test

المؤلفون: Maria Carmela Pera, Giorgia Coratti, Beatrice Berti, Adele D'Amico, Maria Sframeli, Emilio Albamonte, Roberto de Sanctis, Sonia Messina, Michela Catteruccia, Giorgia Brigati, Laura Antonaci, Simona Lucibello, Claudio Bruno, Valeria A Sansone, Enrico Bertini, Danilo Tiziano, Marika Pane, Eugenio Mercuri

المصدر: PLoS ONE, Vol 15, Iss 3, p e0230677 (2020)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/a0122968cd594dc39b7ca7da5f8da3b2Test

المؤلفون: Pane, Marika, Berti, Beatrice, Capasso, Anna, Coratti, Giorgia, Varone, Antonio, D'Amico, Adele, Messina, Sonia, Masson, Riccardo, Sansone, Valeria Ada, Donati, Maria Alice, Agosto, Caterina, Bruno, Claudio, Ricci, Federica, Pini, Antonella, Gagliardi, Delio, Filosto, Massimiliano, Corti, Stefania, Leone, Daniela, Palermo, Concetta, Onesimo, Roberta, De Sanctis, Roberto, Ricci, Martina, Bitetti, Ilaria, Sframeli, Maria, Dosi, Claudia, Albamonte, Emilio, Ticci, Chiara, Brolatti, Noemi, Bertini, Enrico, Finkel, Richard, Mercuri, Eugenio, ITASMAc group, 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 Cherchi, 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

المساهمون: Pane, Marika, Berti, Beatrice, Capasso, Anna, Coratti, Giorgia, Varone, Antonio, D'Amico, Adele, Messina, Sonia, Masson, Riccardo, Sansone, Valeria Ada, Donati, Maria Alice, Agosto, Caterina, Bruno, Claudio, Ricci, Federica, Pini, Antonella, Gagliardi, Delio, Filosto, Massimiliano, Corti, Stefania, Leone, Daniela, Palermo, Concetta, Onesimo, Roberta, De Sanctis, Roberto, Ricci, Martina, Bitetti, Ilaria, Sframeli, Maria, Dosi, Claudia, Albamonte, Emilio, Ticci, Chiara, Brolatti, Noemi, Bertini, Enrico, Finkel, Richard, Mercuri, Eugenio, Group, Itasmac, Maria Carmela Pera, Bravetti, Chiara, Piastra, Marco, Genovese, Orazio, Cicala, Gianpaolo, Forcina, Nicola, Carnicella, Sara, Stanca, Giulia, Sacchini, Michele, Catteruccia, Michela, Tosi, Michele, Cutrera, Renato, Cherchi, Claudio, Maria Beatrice Chiarini, Salmin, Francesca, Pedemonte, Marina, Govoni, Alessandra, Mizzoni, Irene, Morando, Simone, Zanin, Riccardo, Rolle, Enrica, Salomon, Eleonora, Giannotta, Melania, Scarpini, Gaia, Toscano, Antonio, Gitto, Eloisa, Materia, Roberto, D'Alessandro, Rossella

مصطلحات موضوعية: Follow-up, Gene therapy, Longitudinal, Safety, Spinal muscular atrophy

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37197706; info:eu-repo/semantics/altIdentifier/wos/WOS:001003242800001; volume:59; issue:101997; firstpage:1; lastpage:13; numberofpages:13; journal:ECLINICALMEDICINE; https://hdl.handle.net/11570/3286115Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85156145054

الإتاحة: https://doi.org/10.1016/j.eclinm.2023.101997Test
https://hdl.handle.net/11570/3286115Test

المؤلفون: Alberto E. Tozzi, Massimiliano De Luca, Adele D'Amico, Massimiliano Valeriani, Enrico Bertini, Renato Cutrera, Francesco Nicita, Claudio Cherchi, S. Pro, Michela Catteruccia, Daria Diodato

المصدر: Pro, S, Tozzi, A E, D’Amico, A, Catteruccia, M, Cherchi, C, De Luca, M, Nicita, F, Diodato, D, Cutrera, R, Bertini, E & Valeriani, M 2021, ' Age-related sensory neuropathy in patients with Spinal Muscular Atrophy type 1 ', Muscle & Nerve, vol. 64, no. 5, pp. 599-603 . https://doi.org/10.1002/mus.27389Test

مصطلحات موضوعية: Physiology, Neural Conduction, Action Potentials, Sensory system, Sural nerve, Spinal Muscular Atrophies of Childhood, Cellular and Molecular Neuroscience, Sural Nerve, Physiology (medical), medicine, Humans, Child, Aged, business.industry, Peripheral Nervous System Diseases, Spinal muscular atrophy, SNAP, Motor neuron, SMA 1, SMA, medicine.disease, Median nerve, Median Nerve, Sensory Neuropathy, medicine.anatomical_structure, nervous system, Anesthesia, Neurology (clinical), Age of onset, business, Sensory nerve

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1771db8053cac04bd292d96b63cebf0Test
https://doi.org/10.1002/mus.27389Test