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Stefano Bertolini

Showing results (61-70 of 93) with videos related to

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Journal of Clinical Lipidology|December 22, 2015
A complex phenotype in a child with familial HDL deficiency due to a novel frameshift mutation in APOA1 gene (apoA-IGuastalla)Livia Pisciotta, Cecilia Vitali, Elda Favari, et al.
Atherosclerosis|May 6, 2014
Lysosomal acid lipase deficiency--an under-recognized cause of dyslipidaemia and liver dysfunctionŽeljko Reiner, Ornella Guardamagna, Devaki Nair, et al.
Journal of Clinical Lipidology|June 30, 2019
Novel mutations of SAR1B gene in four children with chylomicron retention diseaseMaria Luisa Simone, Claudio Rabacchi, Zarife Kuloglu, et al.
Molecular Genetics and Metabolism|December 17, 2008
Functional analysis of two novel splice site mutations of APOB gene in familial hypobetalipoproteinemiaEnza Di Leo, Lucia Magnolo, Elisa Pinotti, et al.
European Journal of Preventive Cardiology|February 20, 2024
Contemporary lipid-lowering management and risk of cardiovascular events in homozygous familial hypercholesterolaemia: insights from the Italian LIPIGEN RegistryLaura D'Erasmo, Simone Bini, Manuela Casula, et al.
Atherosclerosis|May 12, 2004
Genetic polymorphisms affecting the phenotypic expression of familial hypercholesterolemiaStefano Bertolini, Livia Pisciotta, Lilla Di Scala, et al.
The Journal of Biological Chemistry|September 1, 2005
Adaptor protein ARH is recruited to the plasma membrane by low density lipoprotein (LDL) binding and modulates endocytosis of the LDL/LDL receptor complex in hepatocytesMaria Isabella Sirinian, Francesca Belleudi, Filomena Campagna, et al.
Journal of Lipid Research|February 11, 2003
Abnormal splicing of ABCA1 pre-mRNA in Tangier disease due to a IVS2 +5G>C mutation in ABCA1 geneSerena Altilia, Livia Pisciotta, Rita Garuti, et al.
Atherosclerosis|September 27, 2005
Additive effect of mutations in LDLR and PCSK9 genes on the phenotype of familial hypercholesterolemiaLivia Pisciotta, Claudio Priore Oliva, Angelo Baldassare Cefalù, et al.
International Journal of Molecular Sciences|February 25, 2023
Functional Characterization of p.(Arg160Gln) PCSK9 Variant Accidentally Found in a Hypercholesterolemic SubjectAsier Larrea-Sebal, Chiara Trenti, Shifa Jebari-Benslaiman, et al.
Pageof 10

Showing results (61-70 of 93) with videos related to

Sort By:
Pageof 10
Journal of Clinical Lipidology|December 22, 2015
A complex phenotype in a child with familial HDL deficiency due to a novel frameshift mutation in APOA1 gene (apoA-IGuastalla)Livia Pisciotta, Cecilia Vitali, Elda Favari, et al.
Atherosclerosis|May 6, 2014
Lysosomal acid lipase deficiency--an under-recognized cause of dyslipidaemia and liver dysfunctionŽeljko Reiner, Ornella Guardamagna, Devaki Nair, et al.
Journal of Clinical Lipidology|June 30, 2019
Novel mutations of SAR1B gene in four children with chylomicron retention diseaseMaria Luisa Simone, Claudio Rabacchi, Zarife Kuloglu, et al.
Molecular Genetics and Metabolism|December 17, 2008
Functional analysis of two novel splice site mutations of APOB gene in familial hypobetalipoproteinemiaEnza Di Leo, Lucia Magnolo, Elisa Pinotti, et al.
European Journal of Preventive Cardiology|February 20, 2024
Contemporary lipid-lowering management and risk of cardiovascular events in homozygous familial hypercholesterolaemia: insights from the Italian LIPIGEN RegistryLaura D'Erasmo, Simone Bini, Manuela Casula, et al.
Atherosclerosis|May 12, 2004
Genetic polymorphisms affecting the phenotypic expression of familial hypercholesterolemiaStefano Bertolini, Livia Pisciotta, Lilla Di Scala, et al.
The Journal of Biological Chemistry|September 1, 2005
Adaptor protein ARH is recruited to the plasma membrane by low density lipoprotein (LDL) binding and modulates endocytosis of the LDL/LDL receptor complex in hepatocytesMaria Isabella Sirinian, Francesca Belleudi, Filomena Campagna, et al.
Journal of Lipid Research|February 11, 2003
Abnormal splicing of ABCA1 pre-mRNA in Tangier disease due to a IVS2 +5G>C mutation in ABCA1 geneSerena Altilia, Livia Pisciotta, Rita Garuti, et al.
Atherosclerosis|September 27, 2005
Additive effect of mutations in LDLR and PCSK9 genes on the phenotype of familial hypercholesterolemiaLivia Pisciotta, Claudio Priore Oliva, Angelo Baldassare Cefalù, et al.
International Journal of Molecular Sciences|February 25, 2023
Functional Characterization of p.(Arg160Gln) PCSK9 Variant Accidentally Found in a Hypercholesterolemic SubjectAsier Larrea-Sebal, Chiara Trenti, Shifa Jebari-Benslaiman, et al.
Pageof 10