Showing results (51-60 of 120) with videos related to
Sort By:
Pageof 12
Journal of Neurology|June 26, 2008
Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegiaRoberta Virgilio, Dario Ronchi, Georgios M Hadjigeorgiou, et al.Annals of Clinical and Translational Neurology|May 4, 2021
Charcot-Marie-Tooth disease type 2F associated with biallelic HSPB1 mutationsElena Abati, Stefania Magri, Megi Meneri, et al.Experimental Neurology|February 8, 2011
Beta-lactam antibiotic offers neuroprotection in a spinal muscular atrophy model by multiple mechanismsMonica Nizzardo, Martina Nardini, Dario Ronchi, et al.Frontiers in Genetics|December 15, 2023
Prominent muscle involvement in a familial form of mitochondrial disease due to a COA8 variantMartina Rimoldi, Francesca Magri, Sara Antognozzi, et al.Frontiers in Neurology|March 19, 2024
Case report: A novel ACTA1 variant in a patient with nemaline rods and increased glycogen depositionDaniela Piga, Martina Rimoldi, Francesca Magri, et al.Journal of Medical Genetics|December 18, 2012
Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutationsMarianna Ciccolella, Stefania Corti, Michela Catteruccia, et al.Journal of Neuroscience Research|August 17, 2018
Purkinje cell COX deficiency and mtDNA depletion in an animal model of spinocerebellar ataxia type 1Michela Ripolone, Valeria Lucchini, Dario Ronchi, et al.BMC Neurology|September 26, 2015
ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy casesFrancesca Magri, Irene Colombo, Roberto Del Bo, et al.Annals of Clinical and Translational Neurology|September 4, 2019
Novel mutations in DNA2 associated with myopathy and mtDNA instabilityDario Ronchi, Changwei Liu, Leonardo Caporali, et al.Brain : a Journal of Neurology|December 25, 2009
Embryonic stem cell-derived neural stem cells improve spinal muscular atrophy phenotype in miceStefania Corti, Monica Nizzardo, Martina Nardini, et al.Pageof 12