المؤلفون: Claudia Brogna, Marika Pane, Giorgia Coratti, Adele D’Amico, Elena Pegoraro, Luca Bello, Valeria Sansone, Emilio Albamonte, Sonia Messina, Antonella Pini, Maria D’Angelo, Claudio Bruno, Tiziana Mongini, Federica Ricci, Angela Berardinelli, Roberta Battini, Riccardo Masson, Enrico Bertini, Luisa Politano, Eugenio Mercuri, Italian DMD Group

المصدر: Children; Volume 10; Issue 4; Pages: 746

مصطلحات موضوعية: DMD, PUL 2.0, exon skipping

وصف الملف: application/pdf

العلاقة: Child Neurology; https://dx.doi.org/10.3390/children10040746Test

الإتاحة: https://doi.org/10.3390/children10040746Test

المؤلفون: Georgia Stimpson, Danielle Ramsey, Amy Wolfe, Anna Mayhew, Mariacristina Scoto, Giovanni Baranello, Robert Muni Lofra, Marion Main, Evelin Milev, Giorgia Coratti, Marika Pane, Valeria Sansone, Adele D’Amico, Enrico Bertini, Sonia Messina, Claudio Bruno, Emilio Albamonte, Elena Stacy Mazzone, Jacqueline Montes, Allan M. Glanzman, Zarazuela Zolkipli-Cunningham, Amy Pasternak, Tina Duong, Sally Dunaway Young, Matthew Civitello, Chiara Marini-Bettolo, John W. Day, Basil T. Darras, Darryl C. De Vivo, Richard S. Finkel, Eugenio Mercuri, Francesco Muntoni

المصدر: Journal of Clinical Medicine; Volume 12; Issue 5; Pages: 1920

مصطلحات موضوعية: motor function, natural history, spinal muscular atrophy

وصف الملف: application/pdf

العلاقة: Clinical Neurology; https://dx.doi.org/10.3390/jcm12051920Test

الإتاحة: https://doi.org/10.3390/jcm12051920Test

المؤلفون: Anwar Baban, Viola Alesi, Monia Magliozzi, Giovanni Parlapiano, Silvia Genovese, Marianna Cicenia, Sara Loddo, Valentina Lodato, Luca Di Chiara, Fabiana Fattori, Adele D’Amico, Paola Francalanci, Antonio Amodeo, Antonio Novelli, Fabrizio Drago

المصدر: Journal of Cardiovascular Development and Disease; Volume 9; Issue 10; Pages: 332

مصطلحات موضوعية: FLNC and children, restrictive cardiomyopathy and major musculoskeletal changes, FLNC and congenital heart defects

وصف الملف: application/pdf

العلاقة: Pediatric Cardiology and Congenital Heart Disease; https://dx.doi.org/10.3390/jcdd9100332Test

الإتاحة: https://doi.org/10.3390/jcdd9100332Test

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

المصدر: Biomolecules; Volume 12; Issue 10; Pages: 1431

مصطلحات موضوعية: spinal muscular atrophy (SMA), survival motor neuron (SMN), nusinersen, cerebrospinal fluid (CSF), nuclear magnetic resonance (NMR)

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Molecular Medicine; https://dx.doi.org/10.3390/biom12101431Test

الإتاحة: https://doi.org/10.3390/biom12101431Test

المؤلفون: Luca Bosco, Daniela Leone, Laura Costa Comellas, Mauro Monforte, Marika Pane, Eugenio Mercuri, Enrico Bertini, Adele D’Amico, Fabiana Fattori

المصدر: International Journal of Molecular Sciences; Volume 23; Issue 18; Pages: 10274

مصطلحات موضوعية: MTM1, splicing, XLMTM, myotubular myopathy, novel mutation, NGS

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/ijms231810274Test

الإتاحة: https://doi.org/10.3390/ijms231810274Test

المؤلفون: Paolo Alfieri, Francesca Cumbo, Giulia Serra, Monia Trasolini, Camilla Frattini, Francesco Scibelli, Serena Licchelli, Flavia Cirillo, Cristina Caciolo, Maria Pia Casini, Adele D’Amico, Marco Tartaglia, Maria Cristina Digilio, Rossella Capolino, Stefano Vicari

المصدر: Brain Sciences; Volume 11; Issue 2; Pages: 233

مصطلحات موضوعية: psychopathological features, attention deficit and hyperactivity disorder, deficient emotional self-regulation, irritability, anxiety traits, mood

وصف الملف: application/pdf

العلاقة: Environmental Neuroscience; https://dx.doi.org/10.3390/brainsci11020233Test

الإتاحة: https://doi.org/10.3390/brainsci11020233Test

المؤلفون: Rachele Adorisio, Erica Mencarelli, Nicoletta Cantarutti, Camilla Calvieri, Liliana Amato, Marianna Cicenia, Massimo Silvetti, Adele D’Amico, Maria Grandinetti, Fabrizio Drago, Antonio Amodeo

المصدر: Journal of Clinical Medicine; Volume 9; Issue 10; Pages: 3186

مصطلحات موضوعية: duchenne muscular distrophy, dilated cardiomyopathy, heart failure

وصف الملف: application/pdf

العلاقة: Cardiology; https://dx.doi.org/10.3390/jcm9103186Test

الإتاحة: https://doi.org/10.3390/jcm9103186Test

المؤلفون: Cristina Cappelletti, Irene Tramacere, Paola Cavalcante, Elisa Schena, Luisa Politano, Nicola Carboni, Alessandra Gambineri, Adele D’Amico, Lucia Ruggiero, Giulia Ricci, Gabriele Siciliano, Giuseppe Boriani, Tiziana Enrica Mongini, Liliana Vercelli, Elena Biagini, Matteo Ziacchi, Maria Rosaria D’Apice, Giovanna Lattanzi, Renato Mantegazza, Lorenzo Maggi, Pia Bernasconi

المصدر: Cells; Volume 9; Issue 6; Pages: 1532

مصطلحات موضوعية: cytokines, laminopathies, macrophages, muscle damage, skeletal muscle

وصف الملف: application/pdf

العلاقة: Cell Nuclei: Function, Transport and Receptors; https://dx.doi.org/10.3390/cells9061532Test

الإتاحة: https://doi.org/10.3390/cells9061532Test

المؤلفون: Adele Amico Roxas, Giulia Marino, Giuseppe Avellone, Tiziano Caruso, Francesco Paolo Marra

المصدر: Agriculture; Volume 10; Issue 5; Pages: 167

مصطلحات موضوعية: nut quality, irrigation, stem water potential, fatty acids, chlorophylls, volatile compounds

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Agricultural Product Quality and Safety; https://dx.doi.org/10.3390/agriculture10050167Test

الإتاحة: https://doi.org/10.3390/agriculture10050167Test

المؤلفون: Teresa Giugliano, Marco Savarese, Arcomaria Garofalo, Esther Picillo, Chiara Fiorillo, Adele D’Amico, Lorenzo Maggi, Lucia Ruggiero, Liliana Vercelli, Francesca Magri, Fabiana Fattori, Annalaura Torella, Manuela Ergoli, Anna Rubegni, Marina Fanin, Olimpia Musumeci, Jan Bleecker, Lorenzo Peverelli, Maurizio Moggio, Eugenio Mercuri, Antonio Toscano, Marina Mora, Lucio Santoro, Tiziana Mongini, Enrico Bertini, Claudio Bruno, Carlo Minetti, Giacomo Comi, Filippo Santorelli, Corrado Angelini, Luisa Politano, Giulio Piluso, Vincenzo Nigro

المصدر: Genes; Volume 9; Issue 11; Pages: 524

مصطلحات موضوعية: copy number variants, skeletal muscle disorders, next-generation sequencing, variants of uncertain significance

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes9110524Test

الإتاحة: https://doi.org/10.3390/genes9110524Test