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1دورية أكاديمية
المؤلفون: Jacopo Sartorelli, Lorena Travaglini, Marina Macchiaiolo, Giacomo Garone, Michaela Veronika Gonfiantini, Davide Vecchio, Lorenzo Sinibaldi, Flaminia Frascarelli, Viola Ceccatelli, Sara Petrillo, Fiorella Piemonte, Gabriele Piccolo, Antonio Novelli, Daniela Longo, Stefano Pro, Adele D’Amico, Enrico Silvio Bertini, Francesco Nicita
المصدر: Genes, Vol 15, Iss 4, p 508 (2024)
مصطلحات موضوعية: ataxia, cerebellar hypoplasia, hypomyelination, leukodystrophy, genotype–phenotype, neurofilament light chain, Genetics, QH426-470
وصف الملف: electronic resource
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2دورية أكاديميةA New Case of Autosomal-Dominant POLR3B-Related Disorder: Widening Genotypic and Phenotypic Spectrum
المؤلفون: Vito Luigi Colona, Enrico Bertini, Maria Cristina Digilio, Adele D’Amico, Antonio Novelli, Stefano Pro, Elisa Pisaneschi, Francesco Nicita
المصدر: Brain Sciences, Vol 13, Iss 11, p 1567 (2023)
مصطلحات موضوعية: ataxia, heterozygous, leukodystrophy, neuropathy, POLR3A, vertical gaze palsy, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Claudia Brogna, Marika Pane, Giorgia Coratti, Adele D’Amico, Elena Pegoraro, Luca Bello, Valeria Ada Maria Sansone, Emilio Albamonte, Sonia Messina, Antonella Pini, Maria Grazia D’Angelo, Claudio Bruno, Tiziana Mongini, Federica Silvia Ricci, Angela Berardinelli, Roberta Battini, Riccardo Masson, Enrico Silvio Bertini, Luisa Politano, Eugenio Mercuri, Italian DMD Group
المصدر: Children, Vol 10, Iss 4, p 746 (2023)
مصطلحات موضوعية: DMD, PUL 2.0, exon skipping, Pediatrics, RJ1-570
وصف الملف: electronic resource
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4دورية أكاديمية
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, Vol 12, Iss 5, p 1920 (2023)
مصطلحات موضوعية: motor function, natural history, spinal muscular atrophy, Medicine
وصف الملف: electronic resource
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5دورية أكاديمية
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, Vol 12, Iss 10, p 1431 (2022)
مصطلحات موضوعية: spinal muscular atrophy (SMA), survival motor neuron (SMN), nusinersen, cerebrospinal fluid (CSF), nuclear magnetic resonance (NMR), Microbiology, QR1-502
وصف الملف: electronic resource
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6دورية أكاديمية
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, Vol 9, Iss 10, p 332 (2022)
مصطلحات موضوعية: FLNC and children, restrictive cardiomyopathy and major musculoskeletal changes, FLNC and congenital heart defects, Diseases of the circulatory (Cardiovascular) system, RC666-701
وصف الملف: electronic resource
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7دورية أكاديمية
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, Vol 23, Iss 18, p 10274 (2022)
مصطلحات موضوعية: MTM1, splicing, XLMTM, myotubular myopathy, novel mutation, NGS, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
العلاقة: https://www.mdpi.com/1422-0067/23/18/10274Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test
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8دورية أكاديمية
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, Vol 11, Iss 2, p 233 (2021)
مصطلحات موضوعية: psychopathological features, attention deficit and hyperactivity disorder, deficient emotional self-regulation, irritability, anxiety traits, mood, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
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9دورية أكاديمية
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, Vol 9, Iss 10, p 3186 (2020)
مصطلحات موضوعية: duchenne muscular distrophy, dilated cardiomyopathy, heart failure, Medicine
وصف الملف: electronic resource
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10دورية أكاديمية
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, Vol 9, Iss 6, p 1532 (2020)
مصطلحات موضوعية: cytokines, laminopathies, macrophages, muscle damage, skeletal muscle, Cytology, QH573-671
وصف الملف: electronic resource