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EMBO Molecular Medicine|April 16, 2015
A nonsense mutation of human XRCC4 is associated with adult-onset progressive encephalocardiomyopathyLeonardo Bee, Alessia Nasca, Alice Zanolini, et al.Human Mutation|July 12, 2020
Homozygous mutations in C1QBP as cause of progressive external ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletionsSilvia Marchet, Andrea Legati, Alessia Nasca, et al.Molecular Genetics and Metabolism|September 27, 2012
A novel homozygous mutation in SUCLA2 gene identified by exome sequencingCostanza Lamperti, Mingyan Fang, Federica Invernizzi, et al.Molecular Therapy : the Journal of the American Society of Gene Therapy|November 20, 2013
AAV-mediated liver-specific MPV17 expression restores mtDNA levels and prevents diet-induced liver failureEmanuela Bottani, Carla Giordano, Gabriele Civiletto, et al.Journal of the Neurological Sciences|January 3, 2006
Congenital muscular dystrophy with muscle inflammation alpha dystroglycan glycosylation defect and no mutation in FKRP geneCostanza Lamperti, Rachele Cagliani, Patrizia Ciscato, et al.Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|January 29, 2020
Awareness of rare and genetic neurological diseases among italian neurologist. A national surveyMichelangelo Mancuso, Massimiliano Filosto, Costanza Lamperti, et al.American Journal of Ophthalmology Case Reports|October 16, 2024
Multifocal vitelliform lesions associated with mitochondrial retinopathyMaurizio Battaglia Parodi, Alessio Antropoli, Lorenzo Bianco, et al.Brain : a Journal of Neurology|December 10, 2013
Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse modelDario Brunetti, Sabrina Dusi, Carla Giordano, et al.Molecular Genetics and Metabolism Reports|January 11, 2017
Pure myopathy with enlarged mitochondria associated to a new mutation in MTND2 geneAlice Zanolini, Ana Potic, Franco Carrara, et al.European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|September 19, 2015
Clinical and genetic features of paroxysmal kinesigenic dyskinesia in Italian patientsCostanza Lamperti, Federica Invernizzi, Roberta Solazzi, et al.Pageof 13