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Alice Donati

Showing results (101-110 of 117) with videos related to

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Annals of Neurology|May 25, 2019
Deoxynucleoside Therapy for Thymidine Kinase 2-Deficient MyopathyCristina Domínguez-González, Marcos Madruga-Garrido, Fabiola Mavillard, et al.
Acta Neuropathologica Communications|April 16, 2022
Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population studyAurora Fusto, Denise Cassandrini, Chiara Fiorillo, et al.
Neuromuscular Disorders : NMD|July 17, 2010
North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophyElena Mazzone, Diego Martinelli, Angela Berardinelli, et al.
Journal of Neurology|November 15, 2015
Erratum to: Redefining phenotypes associated with mitochondrial DNA single deletionMichelangelo Mancuso, Daniele Orsucci, Corrado Angelini, et al.
Journal of Neurology|March 27, 2015
Redefining phenotypes associated with mitochondrial DNA single deletionMichelangelo Mancuso, Daniele Orsucci, Corrado Angelini, et al.
Orphanet Journal of Rare Diseases|November 29, 2025
Late-onset Pompe's disease in pediatrics: results from an Italian national survey on 38 patients and proposal of a targeted diagnostic algorithmMarco Spada, Serena Gasperini, Massimiliano Filosto, et al.
American Journal of Human Genetics|October 15, 2013
Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4Gordon J Hildick-Smith, Jeffrey D Cooney, Caterina Garone, et al.
Plos One|June 25, 2021
North Star Ambulatory Assessment changes in ambulant Duchenne boys amenable to skip exons 44, 45, 51, and 53: A 3 year follow upGiorgia Coratti, Marika Pane, Claudia Brogna, et al.
Plos One|January 18, 2013
24 month longitudinal data in ambulant boys with Duchenne muscular dystrophyElena Stacy Mazzone, Marika Pane, Maria Pia Sormani, et al.
Journal of Neurology|May 11, 2015
Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohortFabiana Fattori, Lorenzo Maggi, Claudio Bruno, et al.
Pageof 12

Showing results (101-110 of 117) with videos related to

Sort By:
Pageof 12
Annals of Neurology|May 25, 2019
Deoxynucleoside Therapy for Thymidine Kinase 2-Deficient MyopathyCristina Domínguez-González, Marcos Madruga-Garrido, Fabiola Mavillard, et al.
Acta Neuropathologica Communications|April 16, 2022
Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population studyAurora Fusto, Denise Cassandrini, Chiara Fiorillo, et al.
Neuromuscular Disorders : NMD|July 17, 2010
North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophyElena Mazzone, Diego Martinelli, Angela Berardinelli, et al.
Journal of Neurology|November 15, 2015
Erratum to: Redefining phenotypes associated with mitochondrial DNA single deletionMichelangelo Mancuso, Daniele Orsucci, Corrado Angelini, et al.
Journal of Neurology|March 27, 2015
Redefining phenotypes associated with mitochondrial DNA single deletionMichelangelo Mancuso, Daniele Orsucci, Corrado Angelini, et al.
Orphanet Journal of Rare Diseases|November 29, 2025
Late-onset Pompe's disease in pediatrics: results from an Italian national survey on 38 patients and proposal of a targeted diagnostic algorithmMarco Spada, Serena Gasperini, Massimiliano Filosto, et al.
American Journal of Human Genetics|October 15, 2013
Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4Gordon J Hildick-Smith, Jeffrey D Cooney, Caterina Garone, et al.
Plos One|June 25, 2021
North Star Ambulatory Assessment changes in ambulant Duchenne boys amenable to skip exons 44, 45, 51, and 53: A 3 year follow upGiorgia Coratti, Marika Pane, Claudia Brogna, et al.
Plos One|January 18, 2013
24 month longitudinal data in ambulant boys with Duchenne muscular dystrophyElena Stacy Mazzone, Marika Pane, Maria Pia Sormani, et al.
Journal of Neurology|May 11, 2015
Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohortFabiana Fattori, Lorenzo Maggi, Claudio Bruno, et al.
Pageof 12