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Stefano Duga

Showing results (91-100 of 141) with videos related to

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Annals of Neurology|January 16, 2021
A Novel Homozygous VPS11 Variant May Cause Generalized DystoniaEdoardo Monfrini, Filippo Cogiamanian, Sabrina Salani, et al.
Journal of Molecular Neuroscience : MN|June 21, 2022
Massive Accumulation of Sphingomyelin Affects the Lysosomal and Mitochondria Compartments and Promotes Apoptosis in Niemann-Pick Disease Type AEmma Veronica Carsana, Giulia Lunghi, Simona Prioni, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|November 16, 2025
Correcting CFTR mRNA splicing defects with the plant cytokine kinetin and its analoguesValeria Rimoldi, Giulia Soldà, Anita Capalbo, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|May 11, 2018
A lysosome-plasma membrane-sphingolipid axis linking lysosomal storage to cell growth arrestMaura Samarani, Nicoletta Loberto, Giulia Soldà, et al.
European Journal of Human Genetics : EJHG|September 4, 2014
The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathyMichela Robusto, Mingyan Fang, Rosanna Asselta, et al.
Human Molecular Genetics|April 27, 2017
A frequent oligogenic involvement in congenital hypothyroidismTiziana de Filippis, Giulia Gelmini, Elvezia Paraboschi, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|March 9, 2022
Role of Lysosomal Gene Variants in Modulating GBA-Associated Parkinson's Disease RiskLetizia Straniero, Valeria Rimoldi, Edoardo Monfrini, et al.
Cells|August 12, 2022
β-Glucocerebrosidase Deficiency Activates an Aberrant Lysosome-Plasma Membrane Axis Responsible for the Onset of NeurodegenerationGiulia Lunghi, Emma Veronica Carsana, Nicoletta Loberto, et al.
Human Molecular Genetics|August 1, 2014
Functional variations modulating PRKCA expression and alternative splicing predispose to multiple sclerosisElvezia M Paraboschi, Valeria Rimoldi, Giulia Soldà, et al.
Plos Genetics|February 4, 2015
Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarctionAenne S Thormaehlen, Christian Schuberth, Hong-Hee Won, et al.
Pageof 15

Showing results (91-100 of 141) with videos related to

Sort By:
Pageof 15
Annals of Neurology|January 16, 2021
A Novel Homozygous VPS11 Variant May Cause Generalized DystoniaEdoardo Monfrini, Filippo Cogiamanian, Sabrina Salani, et al.
Journal of Molecular Neuroscience : MN|June 21, 2022
Massive Accumulation of Sphingomyelin Affects the Lysosomal and Mitochondria Compartments and Promotes Apoptosis in Niemann-Pick Disease Type AEmma Veronica Carsana, Giulia Lunghi, Simona Prioni, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|November 16, 2025
Correcting CFTR mRNA splicing defects with the plant cytokine kinetin and its analoguesValeria Rimoldi, Giulia Soldà, Anita Capalbo, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|May 11, 2018
A lysosome-plasma membrane-sphingolipid axis linking lysosomal storage to cell growth arrestMaura Samarani, Nicoletta Loberto, Giulia Soldà, et al.
European Journal of Human Genetics : EJHG|September 4, 2014
The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathyMichela Robusto, Mingyan Fang, Rosanna Asselta, et al.
Human Molecular Genetics|April 27, 2017
A frequent oligogenic involvement in congenital hypothyroidismTiziana de Filippis, Giulia Gelmini, Elvezia Paraboschi, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|March 9, 2022
Role of Lysosomal Gene Variants in Modulating GBA-Associated Parkinson's Disease RiskLetizia Straniero, Valeria Rimoldi, Edoardo Monfrini, et al.
Cells|August 12, 2022
β-Glucocerebrosidase Deficiency Activates an Aberrant Lysosome-Plasma Membrane Axis Responsible for the Onset of NeurodegenerationGiulia Lunghi, Emma Veronica Carsana, Nicoletta Loberto, et al.
Human Molecular Genetics|August 1, 2014
Functional variations modulating PRKCA expression and alternative splicing predispose to multiple sclerosisElvezia M Paraboschi, Valeria Rimoldi, Giulia Soldà, et al.
Plos Genetics|February 4, 2015
Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarctionAenne S Thormaehlen, Christian Schuberth, Hong-Hee Won, et al.
Pageof 15