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1دورية 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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2دورية أكاديمية
المؤلفون: Samah K. Aburahma, Liqa A. Rousan, Mohammad Shboul, Fabio Biella, Sabrina Lucchiari, Giacomo Pietro Comi, Giovanni Meola, Serena Pagliarani
المصدر: Frontiers in Neurology, Vol 15 (2024)
مصطلحات موضوعية: congenital myopathy, episodic weakness, CACNA1S, Cav1.1, DHPR, splice minigene assay, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2024.1359479/fullTest; https://doaj.org/toc/1664-2295Test
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3دورية أكاديمية
المؤلفون: Daniele Velardo, Sara Antognozzi, Martina Rimoldi, Serena Pagliarani, Filippo Cogiamanian, Sergio Barbieri, Stefania Corti, Giacomo Pietro Comi, Dario Ronchi
المصدر: Frontiers in Neurology, Vol 14 (2023)
مصطلحات موضوعية: Brody myopathy, SERCA1, ATP2A1, WES, neuromuscular disorder, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2023.1170071/fullTest; https://doaj.org/toc/1664-2295Test
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4دورية أكاديمية
المؤلفون: Serena Pagliarani, Giovanni Meola, Melania Filareti, Giacomo Pietro Comi, Sabrina Lucchiari
المصدر: Frontiers in Neurology, Vol 13 (2022)
مصطلحات موضوعية: myotonia, paramyotonia, channelopathies, CLCN1, SCN4A, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2022.845383/fullTest; https://doaj.org/toc/1664-2295Test
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5دورية أكاديمية
المؤلفون: Eleonora Mauri, Daniela Piga, Alessandra Govoni, Roberta Brusa, Serena Pagliarani, Michela Ripolone, Robertino Dilena, Claudia Cinnante, Monica Sciacco, Denise Cassandrini, Vincenzo Nigro, Nereo Bresolin, Stefania Corti, Giacomo P. Comi, Francesca Magri
المصدر: Frontiers in Neurology, Vol 12 (2021)
مصطلحات موضوعية: congenital myopathy, RyR1, fetal brain MRI, neonatal, muscle MRI, muscle biopsy, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2021.664618/fullTest; https://doaj.org/toc/1664-2295Test
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6دورية أكاديمية
المؤلفون: Roberta Telese, Serena Pagliarani, Alberto Lerario, Patrizia Ciscato, Gigliola Fagiolari, Denise Cassandrini, Nadia Grimoldi, Giorgio Conte, Claudia Cinnante, Filippo M. Santorelli, Giacomo P. Comi, Monica Sciacco, Lorenzo Peverelli
المصدر: Molecular Genetics & Genomic Medicine, Vol 8, Iss 9, Pp n/a-n/a (2020)
مصطلحات موضوعية: MYH2, myosin heavy chain myopathy, ophthalmoplegia, rimmed vacuoles, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2324-9269Test
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7دورية أكاديمية
المؤلفون: Serena Pagliarani, Sabrina Lucchiari, Marina Scarlato, Elisa Redaelli, Anna Modoni, Francesca Magri, Barbara Fossati, Stefano C. Previtali, Valeria A. Sansone, Marzia Lecchi, Mauro Lo Monaco, Giovanni Meola, Giacomo P. Comi
المصدر: Frontiers in Neurology, Vol 11 (2020)
مصطلحات موضوعية: myotonia, sodium channel myotonia, founder effect, channelopathy, Nav 1.4, mexiletine, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/article/10.3389/fneur.2020.00255/fullTest; https://doaj.org/toc/1664-2295Test
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8صورة
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
مصطلحات موضوعية: Neurology and Neuromuscular Diseases, Neurogenetics, ACTA1, skeletal muscle rods, glycogen storage, nemaline myopathy, case report
الإتاحة: https://doi.org/10.3389/fneur.2024.1340693.s001Test
https://figshare.com/articles/figure/Image_1_Case_report_A_novel_ACTA1_variant_in_a_patient_with_nemaline_rods_and_increased_glycogen_deposition_pdf/25332682Test -
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المؤلفون: Samah K. Aburahma, Liqa A. Rousan, Mohammad Shboul, Fabio Biella, Sabrina Lucchiari, Giacomo Pietro Comi, Giovanni Meola, Serena Pagliarani
مصطلحات موضوعية: Neurology and Neuromuscular Diseases, Neurogenetics, congenital myopathy, episodic weakness, CACNA1S, Cav1.1, DHPR, splice minigene assay, novel phenotype, periodic paralysis
الإتاحة: https://doi.org/10.3389/fneur.2024.1359479.s001Test
https://figshare.com/articles/dataset/Data_Sheet_1_Case_report_Dihydropyridine_receptor_CACNA1S_congenital_myopathy_a_novel_phenotype_with_early_onset_periodic_paralysis_docx/25223231Test -
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المؤلفون: Federica Rizzo, Silvia Bono, Marc David Ruepp, Sabrina Salani, Linda Ottoboni, Elena Abati, Valentina Melzi, Chiara Cordiglieri, Serena Pagliarani, Roberta De Gioia, Alessia Anastasia, Michela Taiana, Manuela Garbellini, Simona Lodato, Paolo Kunderfranco, Daniele Cazzato, Daniele Cartelli, Caterina Lonati, Nereo Bresolin, Giacomo Comi, Monica Nizzardo, S Corti
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ce717771b8aeb8132018f9768aa5df20Test
https://doi.org/10.21203/rs.3.rs-2817290/v1Test