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Showing results (331-340 of 359) with videos related to

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Journal of Neurology|October 13, 2001
Retrospective study of a large population of patients affected with mitochondrial disorders: clinical, morphological and molecular genetic evaluationM Sciacco, A Prelle, G P Comi, et al.
Annals of the Rheumatic Diseases|May 1, 2008
The -670G>A polymorphism in the FAS gene promoter region influences the susceptibility to systemic sclerosisV Liakouli, M Manetti, A Pacini, et al.
Cell|February 18, 2014
Glycosylation-dependent lectin-receptor interactions preserve angiogenesis in anti-VEGF refractory tumorsDiego O Croci, Juan P Cerliani, Tomas Dalotto-Moreno, et al.
Nature Genetics|June 30, 2001
Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondriaJ N Spelbrink, F Y Li, V Tiranti, et al.
Journal of Neurology|July 11, 2025
Analysis of the Italian cohort of late-onset Pompe disease (LOPD) patients after 10 and 15 years of therapy with alglucosidase alfaT Mongini, G Gadaleta, P Alonge, et al.
Neuromuscular Disorders : NMD|June 26, 2012
Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiencyM Pane, S Messina, G Vasco, et al.
Neuropathology and Applied Neurobiology|June 3, 2017
Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD)M Ripolone, R Violano, D Ronchi, et al.
The Journal of Organic Chemistry|July 2, 2021
Effect of the n<sub>O</sub> → π*<sub>C═O</sub> Interaction on the Conformational Preference of 1,3-Diketones: A Case Study of Riolozatrione DerivativesJuan F Tamez-Fernández, Fátima M Soto-Suárez, Yolanda D Estrada-Chavarría, et al.
Journal of Neurology|November 15, 2011
Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 yearsC Angelini, C Semplicini, S Ravaglia, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|March 19, 2015
LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk populationO Musumeci, G la Marca, M Spada, et al.
Pageof 36

Showing results (331-340 of 359) with videos related to

Sort By:
Pageof 36
Journal of Neurology|October 13, 2001
Retrospective study of a large population of patients affected with mitochondrial disorders: clinical, morphological and molecular genetic evaluationM Sciacco, A Prelle, G P Comi, et al.
Annals of the Rheumatic Diseases|May 1, 2008
The -670G>A polymorphism in the FAS gene promoter region influences the susceptibility to systemic sclerosisV Liakouli, M Manetti, A Pacini, et al.
Cell|February 18, 2014
Glycosylation-dependent lectin-receptor interactions preserve angiogenesis in anti-VEGF refractory tumorsDiego O Croci, Juan P Cerliani, Tomas Dalotto-Moreno, et al.
Nature Genetics|June 30, 2001
Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondriaJ N Spelbrink, F Y Li, V Tiranti, et al.
Journal of Neurology|July 11, 2025
Analysis of the Italian cohort of late-onset Pompe disease (LOPD) patients after 10 and 15 years of therapy with alglucosidase alfaT Mongini, G Gadaleta, P Alonge, et al.
Neuromuscular Disorders : NMD|June 26, 2012
Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiencyM Pane, S Messina, G Vasco, et al.
Neuropathology and Applied Neurobiology|June 3, 2017
Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD)M Ripolone, R Violano, D Ronchi, et al.
The Journal of Organic Chemistry|July 2, 2021
Effect of the n<sub>O</sub> → π*<sub>C═O</sub> Interaction on the Conformational Preference of 1,3-Diketones: A Case Study of Riolozatrione DerivativesJuan F Tamez-Fernández, Fátima M Soto-Suárez, Yolanda D Estrada-Chavarría, et al.
Journal of Neurology|November 15, 2011
Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 yearsC Angelini, C Semplicini, S Ravaglia, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|March 19, 2015
LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk populationO Musumeci, G la Marca, M Spada, et al.
Pageof 36