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

Gaetano Vattemi

Showing results (41-50 of 55) with videos related to

Pageof 6
Sort By:
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|November 10, 2020
Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypesMarcin M Machnicki, Valeria Guglielmi, Elia Pancheri, et al.
Muscle & Nerve|August 9, 2021
Expanding the clinical and genetic spectrum of pathogenic variants in STIM1Chiara Ticci, Denise Cassandrini, Anna Rubegni, et al.
Human Mutation|August 14, 2014
A mutation in the CASQ1 gene causes a vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggregatesDaniela Rossi, Bianca Vezzani, Lucia Galli, et al.
Molecular & Cellular Proteomics : MCP|December 16, 2010
Increased protein nitration in mitochondrial diseases: evidence for vessel wall involvementGaetano Vattemi, Yehia Mechref, Matteo Marini, et al.
Human Mutation|September 13, 2017
Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathyVirginia Barone, Valeria Del Re, Alessandra Gamberucci, et al.
Molecular Genetics and Metabolism|August 6, 2013
SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibersValeria Guglielmi, Gaetano Vattemi, Francesca Gualandi, et al.
Acta Neuropathologica Communications|May 24, 2025
Evaluation of aggrephagy markers in myofibrillar myopathiesEliana Iannibelli, Alessandra Ruggieri, Antonello Maruotti, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|February 26, 2009
Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mousePaola Rimessi, Patrizia Sabatelli, Marina Fabris, et al.
BMC Musculoskeletal Disorders|January 5, 2024
Physical activity practiced at a young age is associated with a less severe subsequent clinical presentation in facioscapulohumeral muscular dystrophyCinzia Bettio, Federico Banchelli, Valentina Salsi, et al.
Acta Neuropathologica Communications|April 24, 2025
Premature skeletal muscle aging in VPS13A deficiency relates to impaired autophagyVeronica Riccardi, Carlo Fiore Viscomi, Marco Sandri, et al.
Pageof 6

Showing results (41-50 of 55) with videos related to

Sort By:
Pageof 6
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|November 10, 2020
Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypesMarcin M Machnicki, Valeria Guglielmi, Elia Pancheri, et al.
Muscle & Nerve|August 9, 2021
Expanding the clinical and genetic spectrum of pathogenic variants in STIM1Chiara Ticci, Denise Cassandrini, Anna Rubegni, et al.
Human Mutation|August 14, 2014
A mutation in the CASQ1 gene causes a vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggregatesDaniela Rossi, Bianca Vezzani, Lucia Galli, et al.
Molecular & Cellular Proteomics : MCP|December 16, 2010
Increased protein nitration in mitochondrial diseases: evidence for vessel wall involvementGaetano Vattemi, Yehia Mechref, Matteo Marini, et al.
Human Mutation|September 13, 2017
Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathyVirginia Barone, Valeria Del Re, Alessandra Gamberucci, et al.
Molecular Genetics and Metabolism|August 6, 2013
SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibersValeria Guglielmi, Gaetano Vattemi, Francesca Gualandi, et al.
Acta Neuropathologica Communications|May 24, 2025
Evaluation of aggrephagy markers in myofibrillar myopathiesEliana Iannibelli, Alessandra Ruggieri, Antonello Maruotti, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|February 26, 2009
Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mousePaola Rimessi, Patrizia Sabatelli, Marina Fabris, et al.
BMC Musculoskeletal Disorders|January 5, 2024
Physical activity practiced at a young age is associated with a less severe subsequent clinical presentation in facioscapulohumeral muscular dystrophyCinzia Bettio, Federico Banchelli, Valentina Salsi, et al.
Acta Neuropathologica Communications|April 24, 2025
Premature skeletal muscle aging in VPS13A deficiency relates to impaired autophagyVeronica Riccardi, Carlo Fiore Viscomi, Marco Sandri, et al.
Pageof 6