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Luciano Merlini

Showing results (71-80 of 117) with videos related to

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Journal of Cellular Physiology|June 21, 2005
Ultrastructural defects of collagen VI filaments in an Ullrich syndrome patient with loss of the alpha3(VI) N10-N7 domainsStefano Squarzoni, Patrizia Sabatelli, Natascha Bergamin, et al.
Human Mutation|April 1, 2006
The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardationJeroen van Reeuwijk, Svetlana Maugenre, Christa van den Elzen, et al.
Frontiers in Aging Neuroscience|December 6, 2014
Melanocytes from Patients Affected by Ullrich Congenital Muscular Dystrophy and Bethlem Myopathy have Dysfunctional Mitochondria That Can be Rescued with Cyclophilin InhibitorsAlessandra Zulian, Francesca Tagliavini, Erika Rizzo, et al.
Neuromuscular Disorders : NMD|December 7, 2002
Frequent low penetrance mutations in the Lamin A/C gene, causing Emery Dreifuss muscular dystrophyMichal Vytopil, Enzo Ricci, Antonio Dello Russo, et al.
Human Molecular Genetics|May 24, 2014
NIM811, a cyclophilin inhibitor without immunosuppressive activity, is beneficial in collagen VI congenital muscular dystrophy modelsAlessandra Zulian, Erika Rizzo, Marco Schiavone, et al.
Proceedings of the National Academy of Sciences of the United States of America|January 12, 2007
Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporinsAlessia Angelin, Tania Tiepolo, Patrizia Sabatelli, et al.
Annals of Neurology|April 1, 2003
Phenotype modulators in myophosphorylase deficiencyAndrea Martinuzzi, Elena Sartori, Marina Fanin, et al.
Nature Medicine|November 2, 2010
Autophagy is defective in collagen VI muscular dystrophies, and its reactivation rescues myofiber degenerationPaolo Grumati, Luisa Coletto, Patrizia Sabatelli, et al.
Biomolecules|November 27, 2024
Restored Collagen VI Microfilaments Network in the Extracellular Matrix of CRISPR-Edited Ullrich Congenital Muscular Dystrophy FibroblastsDaniela Benati, Eleonora Cattin, Federico Corradi, et al.
Oxidative Medicine and Cellular Longevity|October 27, 2011
Cyclosporine A in Ullrich congenital muscular dystrophy: long-term resultsLuciano Merlini, Patrizia Sabatelli, Annarita Armaroli, et al.
Pageof 12

Showing results (71-80 of 117) with videos related to

Sort By:
Pageof 12
Journal of Cellular Physiology|June 21, 2005
Ultrastructural defects of collagen VI filaments in an Ullrich syndrome patient with loss of the alpha3(VI) N10-N7 domainsStefano Squarzoni, Patrizia Sabatelli, Natascha Bergamin, et al.
Human Mutation|April 1, 2006
The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardationJeroen van Reeuwijk, Svetlana Maugenre, Christa van den Elzen, et al.
Frontiers in Aging Neuroscience|December 6, 2014
Melanocytes from Patients Affected by Ullrich Congenital Muscular Dystrophy and Bethlem Myopathy have Dysfunctional Mitochondria That Can be Rescued with Cyclophilin InhibitorsAlessandra Zulian, Francesca Tagliavini, Erika Rizzo, et al.
Neuromuscular Disorders : NMD|December 7, 2002
Frequent low penetrance mutations in the Lamin A/C gene, causing Emery Dreifuss muscular dystrophyMichal Vytopil, Enzo Ricci, Antonio Dello Russo, et al.
Human Molecular Genetics|May 24, 2014
NIM811, a cyclophilin inhibitor without immunosuppressive activity, is beneficial in collagen VI congenital muscular dystrophy modelsAlessandra Zulian, Erika Rizzo, Marco Schiavone, et al.
Proceedings of the National Academy of Sciences of the United States of America|January 12, 2007
Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporinsAlessia Angelin, Tania Tiepolo, Patrizia Sabatelli, et al.
Annals of Neurology|April 1, 2003
Phenotype modulators in myophosphorylase deficiencyAndrea Martinuzzi, Elena Sartori, Marina Fanin, et al.
Nature Medicine|November 2, 2010
Autophagy is defective in collagen VI muscular dystrophies, and its reactivation rescues myofiber degenerationPaolo Grumati, Luisa Coletto, Patrizia Sabatelli, et al.
Biomolecules|November 27, 2024
Restored Collagen VI Microfilaments Network in the Extracellular Matrix of CRISPR-Edited Ullrich Congenital Muscular Dystrophy FibroblastsDaniela Benati, Eleonora Cattin, Federico Corradi, et al.
Oxidative Medicine and Cellular Longevity|October 27, 2011
Cyclosporine A in Ullrich congenital muscular dystrophy: long-term resultsLuciano Merlini, Patrizia Sabatelli, Annarita Armaroli, et al.
Pageof 12