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

Stefania Petrini

Showing results (81-90 of 110) with videos related to

Pageof 11
Sort By:
Neurobiology of Disease|February 25, 2014
Megalencephalic leukoencephalopathy with subcortical cysts protein-1 modulates endosomal pH and protein trafficking in astrocytes: relevance to MLC disease pathogenesisMaria S Brignone, Angela Lanciotti, Sergio Visentin, et al.
Neuromuscular Disorders : NMD|June 26, 2007
Ullrich myopathy phenotype with secondary ColVI defect identified by confocal imaging and electron microscopy analysisStefania Petrini, Adele D'Amico, Patrizio Sale, 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.
Brain : a Journal of Neurology|February 21, 2013
MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapyDiego Martinelli, Lorena Travaglini, Christian A Drouin, et al.
Archives of Neurology|October 13, 2006
POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrumRoberta Biancheri, Enrico Bertini, Antonio Falace, et al.
Human Mutation|May 7, 2019
Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathyMarialetizia Motta, Antonella Giancotti, Gioia Mastromoro, et al.
Neuromuscular Disorders : NMD|September 2, 2006
Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutationAdele D'Amico, Claudio Graziano, Giuseppe Pacileo, et al.
Archives of Biochemistry and Biophysics|November 24, 2025
Altered dimerization of certain riboflavin transporter 2 mutants: a possible source of UPR, altered calcium signalling and mitochondrial derangements in RTD2Maria Tolomeo, Valentina Magliocca, Stefania Petrini, et al.
Human Molecular Genetics|February 25, 2016
Megalencephalic leukoencephalopathy with subcortical cysts protein-1 regulates epidermal growth factor receptor signaling in astrocytesAngela Lanciotti, Maria Stefania Brignone, Sergio Visentin, et al.
Neuromuscular Disorders : NMD|February 8, 2011
Mosaic caveolin-3 expression in acquired rippling muscle disease without evidence of myasthenia gravis or acetylcholine receptor autoantibodiesHarriet P Lo, Enrico Bertini, Massimiliano Mirabella, et al.
Pageof 11

Showing results (81-90 of 110) with videos related to

Sort By:
Pageof 11
Neurobiology of Disease|February 25, 2014
Megalencephalic leukoencephalopathy with subcortical cysts protein-1 modulates endosomal pH and protein trafficking in astrocytes: relevance to MLC disease pathogenesisMaria S Brignone, Angela Lanciotti, Sergio Visentin, et al.
Neuromuscular Disorders : NMD|June 26, 2007
Ullrich myopathy phenotype with secondary ColVI defect identified by confocal imaging and electron microscopy analysisStefania Petrini, Adele D'Amico, Patrizio Sale, 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.
Brain : a Journal of Neurology|February 21, 2013
MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapyDiego Martinelli, Lorena Travaglini, Christian A Drouin, et al.
Archives of Neurology|October 13, 2006
POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrumRoberta Biancheri, Enrico Bertini, Antonio Falace, et al.
Human Mutation|May 7, 2019
Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathyMarialetizia Motta, Antonella Giancotti, Gioia Mastromoro, et al.
Neuromuscular Disorders : NMD|September 2, 2006
Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutationAdele D'Amico, Claudio Graziano, Giuseppe Pacileo, et al.
Archives of Biochemistry and Biophysics|November 24, 2025
Altered dimerization of certain riboflavin transporter 2 mutants: a possible source of UPR, altered calcium signalling and mitochondrial derangements in RTD2Maria Tolomeo, Valentina Magliocca, Stefania Petrini, et al.
Human Molecular Genetics|February 25, 2016
Megalencephalic leukoencephalopathy with subcortical cysts protein-1 regulates epidermal growth factor receptor signaling in astrocytesAngela Lanciotti, Maria Stefania Brignone, Sergio Visentin, et al.
Neuromuscular Disorders : NMD|February 8, 2011
Mosaic caveolin-3 expression in acquired rippling muscle disease without evidence of myasthenia gravis or acetylcholine receptor autoantibodiesHarriet P Lo, Enrico Bertini, Massimiliano Mirabella, et al.
Pageof 11