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

Patrizia Sabatelli

Showing results (41-50 of 90) with videos related to

Pageof 9
Sort By:
BMC Medical Genetics|June 7, 2013
Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-terminal domain: a case reportElena Martoni, Stefania Petrini, Cecilia Trabanelli, et al.
Neuromuscular Disorders : NMD|September 11, 2007
Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the humanMarcella Neri, Silvia Torelli, Sue Brown, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|August 7, 2025
Defective collagen VI-NG2 axis impairs pericyte balance between proliferation and quiescence in COLVI-related myopathiesAntonietta Fazio, Patrizia Sabatelli, Cesare Faldini, et al.
Matrix Biology : Journal of the International Society for Matrix Biology|March 6, 2016
Collagen VI-NG2 axis in human tendon fibroblasts under conditions mimicking injury responseFrancesca Sardone, Spartaco Santi, Francesca Tagliavini, et al.
Frontiers in Aging Neuroscience|September 6, 2014
Aggresome-Autophagy Involvement in a Sarcopenic Patient with Rigid Spine Syndrome and a p.C150R Mutation in FHL1 GenePatrizia Sabatelli, Silvia Castagnaro, Francesca Tagliavini, et al.
Biochimica Et Biophysica Acta|May 22, 2003
Extracellular matrix and nuclear abnormalities in skeletal muscle of a patient with Walker-Warburg syndrome caused by POMT1 mutationPatrizia Sabatelli, Marta Columbaro, Isabella Mura, et al.
International Journal of Molecular Sciences|July 13, 2024
Characterization of Proteome Changes in Aged and Collagen VI-Deficient Human Pericyte CulturesManuela Moriggi, Enrica Torretta, Matilde Cescon, et al.
Nature Genetics|November 20, 2003
Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiencyWilliam A Irwin, Natascha Bergamin, Patrizia Sabatelli, et al.
Journal of Cellular Physiology|November 22, 2012
Melanocytes--a novel tool to study mitochondrial dysfunction in Duchenne muscular dystrophyCamilla Pellegrini, Alessandra Zulian, Francesca Gualandi, et al.
BMC Medical Genetics|March 23, 2010
Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathiesMatteo Bovolenta, Marcella Neri, Elena Martoni, et al.
Pageof 9

Showing results (41-50 of 90) with videos related to

Sort By:
Pageof 9
BMC Medical Genetics|June 7, 2013
Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-terminal domain: a case reportElena Martoni, Stefania Petrini, Cecilia Trabanelli, et al.
Neuromuscular Disorders : NMD|September 11, 2007
Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the humanMarcella Neri, Silvia Torelli, Sue Brown, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|August 7, 2025
Defective collagen VI-NG2 axis impairs pericyte balance between proliferation and quiescence in COLVI-related myopathiesAntonietta Fazio, Patrizia Sabatelli, Cesare Faldini, et al.
Matrix Biology : Journal of the International Society for Matrix Biology|March 6, 2016
Collagen VI-NG2 axis in human tendon fibroblasts under conditions mimicking injury responseFrancesca Sardone, Spartaco Santi, Francesca Tagliavini, et al.
Frontiers in Aging Neuroscience|September 6, 2014
Aggresome-Autophagy Involvement in a Sarcopenic Patient with Rigid Spine Syndrome and a p.C150R Mutation in FHL1 GenePatrizia Sabatelli, Silvia Castagnaro, Francesca Tagliavini, et al.
Biochimica Et Biophysica Acta|May 22, 2003
Extracellular matrix and nuclear abnormalities in skeletal muscle of a patient with Walker-Warburg syndrome caused by POMT1 mutationPatrizia Sabatelli, Marta Columbaro, Isabella Mura, et al.
International Journal of Molecular Sciences|July 13, 2024
Characterization of Proteome Changes in Aged and Collagen VI-Deficient Human Pericyte CulturesManuela Moriggi, Enrica Torretta, Matilde Cescon, et al.
Nature Genetics|November 20, 2003
Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiencyWilliam A Irwin, Natascha Bergamin, Patrizia Sabatelli, et al.
Journal of Cellular Physiology|November 22, 2012
Melanocytes--a novel tool to study mitochondrial dysfunction in Duchenne muscular dystrophyCamilla Pellegrini, Alessandra Zulian, Francesca Gualandi, et al.
BMC Medical Genetics|March 23, 2010
Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathiesMatteo Bovolenta, Marcella Neri, Elena Martoni, et al.
Pageof 9