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1دورية أكاديمية
المؤلفون: Delia Gagliardi, Eleonora Canzio, Paola Orsini, Pasquale Conti, Vita Sinisi, Cosimo Maggiore, Maria Carla Santarsia, Giuseppina Lagioia, Giovanna Lupis, Isabella Roppa, Gaetano Scianatico, Daniela Mancini, Stefania Corti, Giacomo Pietro Comi, Mattia Gentile, Delio Gagliardi
المصدر: Annals of Clinical and Translational Neurology, Vol 11, Iss 5, Pp 1090-1096 (2024)
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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2دورية أكاديمية
المؤلفون: Elena Abati, Eleonora Mauri, Martina Rimoldi, Barbara Madini, Francesca Patria, Giacomo Pietro Comi, Stefania Corti
المصدر: Frontiers in Neurology, Vol 15 (2024)
مصطلحات موضوعية: spinal muscular atrophy, sleep, respiratory disorders, sleep-related breathing disorders, non-invasive ventilation, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2024.1299205/fullTest; https://doaj.org/toc/1664-2295Test
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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: 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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5دورية أكاديمية
المؤلفون: Daniela Piga, Simona Zanotti, Michela Ripolone, Laura Napoli, Patrizia Ciscato, Sara Gibertini, Lorenzo Maggi, Francesco Fortunato, Andrea Rigamonti, Dario Ronchi, Giacomo Pietro Comi, Stefania Corti, Monica Sciacco
المصدر: International Journal of Molecular Sciences, Vol 25, Iss 12, p 6547 (2024)
مصطلحات موضوعية: ZASP/LDB3, inclusion body myositis, rimmed vacuoles, core-like alterations, next-generation sequencing, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
العلاقة: https://www.mdpi.com/1422-0067/25/12/6547Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test
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6دورية أكاديمية
المؤلفون: Martina Rimoldi, Gloria Romagnoli, Francesca Magri, Sara Antognozzi, Claudia Cinnante, Elena Saccani, Patrizia Ciscato, Simona Zanotti, Daniele Velardo, Stefania Corti, Giacomo Pietro Comi, Dario Ronchi
المصدر: Frontiers in Neurology, Vol 14 (2024)
مصطلحات موضوعية: LGMDR8, TRIM32, limb-girdle muscular dystrophy, clinical exome sequencing, tripartite motif-containing proteins, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2023.1281953/fullTest; https://doaj.org/toc/1664-2295Test
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7دورية أكاديمية
المؤلفون: Martina Rimoldi, Francesca Magri, Sara Antognozzi, Michela Ripolone, Sabrina Salani, Daniela Piga, Letizia Bertolasi, Simona Zanotti, Patrizia Ciscato, Francesco Fortunato, Maurizio Moggio, Stefania Corti, Giacomo Pietro Comi, Dario Ronchi
المصدر: Frontiers in Genetics, Vol 14 (2023)
مصطلحات موضوعية: mitochondrial myopathy, cytochrome c oxidase deficiency, COA8, mitochondrial encefalomyopathies, whole exome sequencing, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2023.1278572/fullTest; https://doaj.org/toc/1664-8021Test
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8دورية أكاديمية
المؤلفون: Giacomo Bitetto, Gianluca Lopez, Dario Ronchi, Alessandra Pittaro, Valentina Melzi, Erika Peverelli, Fulvia Milena Cribiù, Giacomo P. Comi, Giovanna Mantovani, Alessio Di Fonzo
المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-8 (2023)
مصطلحات موضوعية: Allgrove syndrome, Adrenal cortex, Adrenal insufficiency, PKA, SCARB1, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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9دورية أكاديمية
المؤلفون: Simone Scarcella, Laura Dell’Arti, Delia Gagliardi, Francesca Magri, Alessandra Govoni, Daniele Velardo, Claudia Mainetti, Valeria Minorini, Dario Ronchi, Daniela Piga, Giacomo Pietro Comi, Stefania Corti, Megi Meneri
المصدر: BMC Neurology, Vol 23, Iss 1, Pp 1-7 (2023)
مصطلحات موضوعية: Optic neuropathy, Mitochondrial disease, MELAS, Stroke-like episodes, NAION, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1471-2377Test
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10دورية أكاديمية
المؤلفون: Arianna Manini, Delia Gagliardi, Megi Meneri, Sara Antognozzi, Roberto Del Bo, Giacomo Pietro Comi, Stefania Corti, Dario Ronchi
المصدر: Scientific Reports, Vol 13, Iss 1, Pp 1-6 (2023)
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2045-2322Test