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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: Anna Modoni, Adele D'Amico, Guido Primiano, Fiorentino Capozzoli, Jean-François Desaphy, Mauro Lo Monaco
المصدر: Frontiers in Neurology, Vol 11 (2020)
مصطلحات موضوعية: mexiletine, non-dyspophyc myotonias, treatment tolerability, adverse effects, genotype-phenotype correlations, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/article/10.3389/fneur.2020.00300/fullTest; https://doaj.org/toc/1664-2295Test