المؤلفون: Nastasia Cardone, Valentina Taglietti, Serena Baratto, Kaouthar Kefi, Baptiste Periou, Ciryl Gitiaux, Christine Barnerias, Peggy Lafuste, France Leturcq Pharm, Juliette Nectoux Pharm, Chiara Panicucci, Isabelle Desguerre, Claudio Bruno, François-Jerome Authier, Chiara Fiorillo, Frederic Relaix, Edoardo Malfatti

المصدر: Acta Neuropathologica Communications, Vol 11, Iss 1, Pp 1-11 (2023)

مصطلحات موضوعية: Duchenne muscular dystrophy, Fibrosis, FAPs, Muscle regeneration, Cellular senescence, 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/b6d306702c484b0da14b8cd7bffee00aTest

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: Tommaso Nuzzo, Rosita Russo, Francesco Errico, Adele D’Amico, Awet G. Tewelde, Mariangela Valletta, Amber Hassan, Michele Tosi, Chiara Panicucci, Claudio Bruno, Enrico Bertini, Angela Chambery, Livio Pellizzoni, Alessandro Usiello

المصدر: Communications Medicine, Vol 3, Iss 1, Pp 1-9 (2023)

مصطلحات موضوعية: Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2730-664XTest

الوصول الحر: https://doaj.org/article/265198727fe14af692a98f766aeb74cbTest

المؤلفون: Noemi Brolatti, Federica Trucco, Marta Ferretti, Chiara Avanti, Paola Tacchetti, Chiara Panicucci, Pasquale Striano, Carlo Minetti, Claudio Bruno, Marina Pedemonte

المصدر: Journal of Clinical Medicine, Vol 12, Iss 24, p 7553 (2023)

مصطلحات موضوعية: spinal muscular atrophy type 1, structured light plethysmography (SLP), CHOP-INTEND, Medicine

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2077-0383/12/24/7553Test; https://doaj.org/toc/2077-0383Test

الوصول الحر: https://doaj.org/article/e035717626534287b946a13b2871bbe6Test

المؤلفون: Chiara Panicucci, Maria Cristina Schiaffino, Claudia Nesti, Maria Derchi, Gianluca Trocchio, Mariasavina Severino, Nicola Stagnaro, Enrico Priolo, Federico Zara, Filippo M. Santorelli, Claudio Bruno

المصدر: Italian Journal of Pediatrics, Vol 48, Iss 1, Pp 1-6 (2022)

مصطلحات موضوعية: Sengers syndrome, AGK gene, Mild phenotype, Long term follow-up, Case report, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1824-7288Test

الوصول الحر: https://doaj.org/article/0d3f19fa84244821be31d2f1fda0bffeTest

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: Giacomo Brisca, Marcello Mariani, Daniela Pirlo, Marta Romanengo, Angela Pistorio, Alberto Gaiero, Chiara Panicucci, Emanuela Piccotti, Claudio Bruno

المصدر: Italian Journal of Pediatrics, Vol 47, Iss 1, Pp 1-8 (2021)

مصطلحات موضوعية: Children, Creatine kinase, Rhabdomyolysis, Gait abnormalities, Clinical pathway, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1824-7288Test

الوصول الحر: https://doaj.org/article/e353b899adeb4c3083ef0153c19afb5bTest

المؤلفون: Elisabetta Cilli, Mirko Traversari, Sara De Fanti, Patrizia Serventi, Stefania Sarno, Andrea Quagliariello, Chiara Panicucci, Marta Maria Ciucani, Gianmarco Ferri, Donata Luiselli, Giorgio Gruppioni

المساهمون: Elisabetta Cilli, Mirko Traversari, Elisabetta Cilli, Mirko Traversari, Sara De Fanti, Patrizia Serventi, Stefania Sarno, Andrea Quagliariello, Chiara Panicucci, Marta Maria Ciucani, Gianmarco Ferri, Donata Luiselli, Giorgio Gruppioni

مصطلحات موضوعية: Mummie, DNA antico, paleodemografia, DNA mitocondriale, cromosoma Y, NGS

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/isbn/9788897281962; ispartofbook:Le Mummie di Roccapelago. Un progetto pilota di ricerca interdisciplinare tra archeologia, antropologia, storia e scienze applicate; firstpage:149; lastpage:157; numberofpages:9; alleditors:Elisabetta Cilli, Mirko Traversari; https://hdl.handle.net/11585/762635Test

الإتاحة: https://hdl.handle.net/11585/762635Test

المؤلفون: Giorgia Coratti, Jacopo Lenkowicz, Giulia Norcia, Simona Lucibello, Elisabetta Ferraroli, Adele d'Amico, Luca Bello, Elena Pegoraro, Sonia Messina, Federica Ricci, Tiziana Mongini, Angela Berardinelli, Riccardo Masson, Stefano C Previtali, Grazia D'angelo, Francesca Magri, Giacomo P Comi, Luisa Politano, Luigia Passamano, Gianluca Vita, Valeria A Sansone, Emilio Albamonte, Chiara Panicucci, Claudio Bruno, Antonella Pini, Enrico Bertini, Stefano Patarnello, Marika Pane, Eugenio Mercuri, italian DMD study group

المصدر: PLoS ONE, Vol 17, Iss 7, p e0271681 (2022)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

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

الوصول الحر: https://doaj.org/article/8e2cffe834b14cb78ac44c0e1498df76Test

المؤلفون: Francesco Errico, Carmen Marino, Manuela Grimaldi, Tommaso Nuzzo, Valentina Bassareo, Valeria Valsecchi, Chiara Panicucci, Elia Di Schiavi, Tommaso Mazza, Claudio Bruno, Adele D’Amico, Manolo Carta, Anna Maria D’Ursi, Enrico Bertini, Livio Pellizzoni, Alessandro Usiello

المساهمون: Errico, Francesco, Marino, Carmen, Grimaldi, Manuela, Nuzzo, Tommaso, Bassareo, Valentina, Valsecchi, Valeria, Panicucci, Chiara, Di Schiavi, Elia, Mazza, Tommaso, Bruno, Claudio, D’Amico, Adele, Carta, Manolo, Maria D’Ursi, Anna, Bertini, Enrico, Pellizzoni, Livio, Usiello, Alessandro

مصطلحات موضوعية: cerebrospinal fluid (CSF), nuclear magnetic resonance (NMR), nusinersen, spinal muscular atrophy (SMA), survival motor neuron (SMN), Human, Oligonucleotides, Antisense, Severity of Illness Index, Glucose, Amino Acid, Fatty Acid, Ketone, Muscular Atrophy, Spinal

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000874087300001; volume:12; issue:10; firstpage:1431; journal:BIOMOLECULES; https://hdl.handle.net/11588/899255Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85140472956

الإتاحة: https://doi.org/10.3390/biom12101431Test
https://hdl.handle.net/11588/899255Test