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Claudio Bruno

Showing results (71-80 of 302) with videos related to

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Neuropediatrics|February 17, 2015
Inferior olivary nucleus involvement in pediatric neurodegenerative disorders: does it play a role in neuroimaging pattern-recognition approach?Marisol Mirabelli-Badenier, Giovanni Morana, Claudio Bruno, et al.
Neuromuscular Disorders : NMD|December 3, 2011
Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII)Olimpia Musumeci, Claudio Bruno, Tiziana Mongini, et al.
Molecular Genetics and Metabolism|December 3, 2019
Novel compound heterozygous pathogenic variants in nucleotide-binding protein like protein (NUBPL) cause leukoencephalopathy with multi-systemic involvementMargherita Protasoni, Claudio Bruno, Maria Alice Donati, et al.
Pediatric Neurology|January 1, 2016
Genetic and Early Clinical Manifestations of Females Heterozygous for Duchenne/Becker Muscular DystrophyRiccardo Papa, Francesca Madia, Domenico Bartolomeo, et al.
Journal of Neurology|April 19, 2018
Unusual white matter involvement in EAST syndrome associated with novel KCNJ10 mutationsMariasavina Severino, Susanna Lualdi, Chiara Fiorillo, et al.
Developmental Medicine and Child Neurology|December 7, 2011
Intermittent-relapsing pyruvate dehydrogenase complex deficiency: a case with clinical, biochemical, and neuroradiological reversibilityGaia Giribaldi, Laura Doria-Lamba, Roberta Biancheri, et al.
Biochemical and Biophysical Research Communications|February 13, 2007
The NDUFB11 gene is not a modifier in Leber hereditary optic neuropathyVittoria Petruzzella, Alessandra Tessa, Alessandra Torraco, et al.
The American Journal of Pathology|January 4, 2007
Caveolin-1(-/-)- and caveolin-2(-/-)-deficient mice both display numerous skeletal muscle abnormalities, with tubular aggregate formationWilliam Schubert, Federica Sotgia, Alex W Cohen, et al.
European Journal of Medicinal Chemistry|June 20, 2013
Searching for new antiarrhythmic agents: evaluation of meta-hydroxymexiletine enantiomersAlessia Catalano, Roberta Budriesi, Claudio Bruno, et al.
Neurobiology of Disease|February 20, 2026
Skeletal muscle in spinal muscular atrophy: Critical insights from pathogenesis to therapeutic strategiesLinda Ottoboni, Chiara Panicucci, Giulia Magni, et al.
Pageof 31

Showing results (71-80 of 302) with videos related to

Sort By:
Pageof 31
Neuropediatrics|February 17, 2015
Inferior olivary nucleus involvement in pediatric neurodegenerative disorders: does it play a role in neuroimaging pattern-recognition approach?Marisol Mirabelli-Badenier, Giovanni Morana, Claudio Bruno, et al.
Neuromuscular Disorders : NMD|December 3, 2011
Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII)Olimpia Musumeci, Claudio Bruno, Tiziana Mongini, et al.
Molecular Genetics and Metabolism|December 3, 2019
Novel compound heterozygous pathogenic variants in nucleotide-binding protein like protein (NUBPL) cause leukoencephalopathy with multi-systemic involvementMargherita Protasoni, Claudio Bruno, Maria Alice Donati, et al.
Pediatric Neurology|January 1, 2016
Genetic and Early Clinical Manifestations of Females Heterozygous for Duchenne/Becker Muscular DystrophyRiccardo Papa, Francesca Madia, Domenico Bartolomeo, et al.
Journal of Neurology|April 19, 2018
Unusual white matter involvement in EAST syndrome associated with novel KCNJ10 mutationsMariasavina Severino, Susanna Lualdi, Chiara Fiorillo, et al.
Developmental Medicine and Child Neurology|December 7, 2011
Intermittent-relapsing pyruvate dehydrogenase complex deficiency: a case with clinical, biochemical, and neuroradiological reversibilityGaia Giribaldi, Laura Doria-Lamba, Roberta Biancheri, et al.
Biochemical and Biophysical Research Communications|February 13, 2007
The NDUFB11 gene is not a modifier in Leber hereditary optic neuropathyVittoria Petruzzella, Alessandra Tessa, Alessandra Torraco, et al.
The American Journal of Pathology|January 4, 2007
Caveolin-1(-/-)- and caveolin-2(-/-)-deficient mice both display numerous skeletal muscle abnormalities, with tubular aggregate formationWilliam Schubert, Federica Sotgia, Alex W Cohen, et al.
European Journal of Medicinal Chemistry|June 20, 2013
Searching for new antiarrhythmic agents: evaluation of meta-hydroxymexiletine enantiomersAlessia Catalano, Roberta Budriesi, Claudio Bruno, et al.
Neurobiology of Disease|February 20, 2026
Skeletal muscle in spinal muscular atrophy: Critical insights from pathogenesis to therapeutic strategiesLinda Ottoboni, Chiara Panicucci, Giulia Magni, et al.
Pageof 31