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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: 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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3دورية 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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4دورية 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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5دورية أكاديمية
المؤلفون: Monica Fumagalli, Dario Ronchi, Maria Francesca Bedeschi, Arianna Manini, Gloria Cristofori, Fabio Mosca, Robertino Dilena, Monica Sciacco, Simona Zanotti, Daniela Piga, Gianluigi Ardissino, Fabio Triulzi, Stefania Corti, Giacomo P. Comi, Leonardo Salviati
المصدر: Molecular Genetics and Metabolism Reports, Vol 32, Iss , Pp 100887- (2022)
مصطلحات موضوعية: Mitochondrial DNA depletion, RRM2B, Ribonucleotide reductase, Mitochondrial encephalomyopathy, Next generation sequencing, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2214426922000477Test; https://doaj.org/toc/2214-4269Test
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6دورية أكاديمية
المؤلفون: Arianna Manini, Leonardo Caporali, Megi Meneri, Simona Zanotti, Daniela Piga, Ignazio Giuseppe Arena, Stefania Corti, Antonio Toscano, Giacomo Pietro Comi, Olimpia Musumeci, Valerio Carelli, Dario Ronchi
المصدر: Frontiers in Genetics, Vol 13 (2022)
مصطلحات موضوعية: RNASEH1, ribonuclease H1, mitochondrial DNA, mtDNA maintenance disorders, myopathy, CPEO, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2022.906667/fullTest; https://doaj.org/toc/1664-8021Test
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7دورية أكاديمية
المؤلفون: Simona Zanotti, Francesca Magri, Sabrina Salani, Laura Napoli, Michela Ripolone, Dario Ronchi, Francesco Fortunato, Patrizia Ciscato, Daniele Velardo, Maria Grazia D’Angelo, Francesca Gualandi, Vincenzo Nigro, Monica Sciacco, Stefania Corti, Giacomo Pietro Comi, Daniela Piga
المصدر: International Journal of Molecular Sciences, Vol 24, Iss 6, p 5551 (2023)
مصطلحات موضوعية: collagen type VI, extracellular matrix, electron microscopy, COL6-RM, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
العلاقة: https://www.mdpi.com/1422-0067/24/6/5551Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test
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8دورية أكاديمية
المؤلفون: Dario Ronchi, Changwei Liu, Leonardo Caporali, Daniela Piga, Hongzhi Li, Francesca Tagliavini, Maria Lucia Valentino, Maria Teresa Ferrò, Paola Bini, Li Zheng, Valerio Carelli, Binghui Shen, Giacomo Pietro Comi
المصدر: Annals of Clinical and Translational Neurology, Vol 6, Iss 9, Pp 1893-1899 (2019)
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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9دورية 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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10دورية أكاديمية
المؤلفون: Eleonora Mauri, Robertino Dilena, Antonio Boccazzi, Dario Ronchi, Daniela Piga, Fabio Triulzi, Delia Gagliardi, Roberta Brusa, Irene Faravelli, Nereo Bresolin, Francesca Magri, Stefania Corti, Giacomo P. Comi
المصدر: BMC Neurology, Vol 18, Iss 1, Pp 1-6 (2018)
مصطلحات موضوعية: Leber’s hereditary optic neuropathy, Spinal cord, Pediatric, Mitochondrial pathology, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s12883-018-1227-9Test; https://doaj.org/toc/1471-2377Test