Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Luciano Merlini

Showing results (81-90 of 117) with videos related to

Pageof 12
Sort By:
Human Molecular Genetics|September 11, 2003
Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycanCheryl Longman, Martin Brockington, Silvia Torelli, et al.
Matrix Biology : Journal of the International Society for Matrix Biology|January 10, 2012
Expression of collagen VI α5 and α6 chains in human muscle and in Duchenne muscular dystrophy-related muscle fibrosisPatrizia Sabatelli, Francesca Gualandi, Sudheer Kumar Gara, et al.
Journal of Biomedicine & Biotechnology|October 24, 2012
Persistent dystrophin protein restoration 90 days after a course of intraperitoneally administered naked 2'OMePS AON and ZM2 NP-AON complexes in mdx miceElena Bassi, Sofia Falzarano, Marina Fabris, et al.
Human Mutation|March 25, 2009
Identification and characterization of novel collagen VI non-canonical splicing mutations causing Ullrich congenital muscular dystrophyElena Martoni, Anna Urciuolo, Patrizia Sabatelli, et al.
Human Mutation|August 16, 2005
Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophiesRachele Cagliani, Francesca Magri, Antonio Toscano, et al.
Molecular and Cellular Neurosciences|September 20, 2005
Altered expression of the MCSP/NG2 chondroitin sulfate proteoglycan in collagen VI deficiencyStefania Petrini, Alessandra Tessa, William B Stallcup, et al.
Annals of Neurology|September 1, 2005
Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophyBetti Giusti, Laura Lucarini, Valentina Pietroni, et al.
Human Mutation|December 24, 2002
Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadricepsIris Eisenberg, Gil Grabov-Nardini, Hagit Hochner, et al.
Autophagy|September 23, 2016
Autophagy activation in COL6 myopathic patients by a low-protein-diet pilot trialSilvia Castagnaro, Camilla Pellegrini, Massimo Pellegrini, et al.
Human Mutation|September 18, 2009
Exon skipping-mediated dystrophin reading frame restoration for small mutationsPietro Spitali, Paola Rimessi, Marina Fabris, et al.
Pageof 12

Showing results (81-90 of 117) with videos related to

Sort By:
Pageof 12
Human Molecular Genetics|September 11, 2003
Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycanCheryl Longman, Martin Brockington, Silvia Torelli, et al.
Matrix Biology : Journal of the International Society for Matrix Biology|January 10, 2012
Expression of collagen VI α5 and α6 chains in human muscle and in Duchenne muscular dystrophy-related muscle fibrosisPatrizia Sabatelli, Francesca Gualandi, Sudheer Kumar Gara, et al.
Journal of Biomedicine & Biotechnology|October 24, 2012
Persistent dystrophin protein restoration 90 days after a course of intraperitoneally administered naked 2'OMePS AON and ZM2 NP-AON complexes in mdx miceElena Bassi, Sofia Falzarano, Marina Fabris, et al.
Human Mutation|March 25, 2009
Identification and characterization of novel collagen VI non-canonical splicing mutations causing Ullrich congenital muscular dystrophyElena Martoni, Anna Urciuolo, Patrizia Sabatelli, et al.
Human Mutation|August 16, 2005
Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophiesRachele Cagliani, Francesca Magri, Antonio Toscano, et al.
Molecular and Cellular Neurosciences|September 20, 2005
Altered expression of the MCSP/NG2 chondroitin sulfate proteoglycan in collagen VI deficiencyStefania Petrini, Alessandra Tessa, William B Stallcup, et al.
Annals of Neurology|September 1, 2005
Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophyBetti Giusti, Laura Lucarini, Valentina Pietroni, et al.
Human Mutation|December 24, 2002
Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadricepsIris Eisenberg, Gil Grabov-Nardini, Hagit Hochner, et al.
Autophagy|September 23, 2016
Autophagy activation in COL6 myopathic patients by a low-protein-diet pilot trialSilvia Castagnaro, Camilla Pellegrini, Massimo Pellegrini, et al.
Human Mutation|September 18, 2009
Exon skipping-mediated dystrophin reading frame restoration for small mutationsPietro Spitali, Paola Rimessi, Marina Fabris, et al.
Pageof 12