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1دورية أكاديمية
المؤلفون: Valeria Valsecchi, Francesco Errico, Valentina Bassareo, Carmen Marino, Tommaso Nuzzo, Paola Brancaccio, Giusy Laudati, Antonella Casamassa, Manuela Grimaldi, Adele D’Amico, Manolo Carta, Enrico Bertini, Giuseppe Pignataro, Anna Maria D’Ursi, Alessandro Usiello
المصدر: Communications Biology, Vol 6, Iss 1, Pp 1-19 (2023)
مصطلحات موضوعية: Biology (General), QH301-705.5
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2399-3642Test
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2دورية أكاديمية
المؤلفون: Kevin A. Strauss, Vincent J. Carson, Emilienne Bolettieri, Mariah Everett, Ashton Bollinger, Lauren E. Bowser, Keturah Beiler, Millie Young, Simon Edvardson, Nitay Fraenkel, Adele D'Amico, Enrico Bertini, Lokesh Lingappa, Devyani Chowdhury, Linda P. Lowes, Megan Iammarino, Lindsay N. Alfano, Karlla W. Brigatti
المصدر: Annals of Clinical and Translational Neurology, Vol 10, Iss 11, Pp 1972-1984 (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
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3دورية أكاديميةCase report: A novel ACTA1 variant in a patient with nemaline rods and increased glycogen deposition
المؤلفون: Daniela Piga, Martina Rimoldi, Francesca Magri, Simona Zanotti, Laura Napoli, Michela Ripolone, Serena Pagliarani, Patrizia Ciscato, Daniele Velardo, Adele D’Amico, Enrico Bertini, Giacomo Pietro Comi, Dario Ronchi, Stefania Corti
المصدر: Frontiers in Neurology, Vol 15 (2024)
مصطلحات موضوعية: ACTA1, skeletal muscle rods, glycogen storage, nemaline myopathy, case report, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2024.1340693/fullTest; https://doaj.org/toc/1664-2295Test
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4دورية أكاديمية
المؤلفون: Glenn Carrington, Abbi Hau, Sarah Kosta, Hannah F. Dugdale, Francesco Muntoni, Adele D’Amico, Peter Van den Bergh, Norma B. Romero, Edoardo Malfatti, Juan Jesus Vilchez, Anders Oldfors, Sander Pajusalu, Katrin Õunap, Marta Giralt-Pujol, Edmar Zanoteli, Kenneth S. Campbell, Hiroyuki Iwamoto, Michelle Peckham, Julien Ochala
المصدر: JCI Insight, Vol 8, Iss 21 (2023)
مصطلحات موضوعية: Muscle biology, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2379-3708Test
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5دورية 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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6دورية أكاديمية
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
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7دورية 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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8دورية أكاديمية
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
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9دورية أكاديمية
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
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10دورية أكاديمية
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