Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Lorenzo Peverelli"'
Autor:
Roberta Telese, Serena Pagliarani, Alberto Lerario, Patrizia Ciscato, Gigliola Fagiolari, Denise Cassandrini, Nadia Grimoldi, Giorgio Conte, Claudia Cinnante, Filippo M. Santorelli, Giacomo P. Comi, Monica Sciacco, Lorenzo Peverelli
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 9, Pp n/a-n/a (2020)
Abstract Background Hereditary myosin myopathies are a group of rare muscle disorders, caused by mutations in genes encoding for skeletal myosin heavy chains (MyHCs). MyHCIIa is encoded by MYH2 and is expressed in fast type 2A and 2B muscle fibers. M
Externí odkaz:
https://doaj.org/article/c9a9ba74695140be9a23183bf6db0129
Autor:
Maria Lucia Valentino, Stefania Magri, Matthis Synofzik, Lorenzo Peverelli, Mingyan Fang, Alessia Nasca, Piero Barboni, Andrea Legati, Anna Ardissone, Stefania Bianchi Marzoli, Francesca Tagliavini, Eleonora Lamantea, Silvia Baratta, Daniele Ghezzi, Costanza Lamperti, Valerio Carelli, Chiara La Morgia, Rebecca Schüle, Mariantonietta Capristo, Gabriella Cammarata, Leonardo Caporali, Francesca Balistreri, Valentina Del Dotto, Davide Pareyson, Massimo Zeviani, L Melzi, Ludger Schöls, Michele Carbonelli, Franco Taroni, Maria Lucia Cascavilla, Alessandra Maresca
Publikováno v:
Annals of Neurology
Annals of neurology 88(1), 18-32 (2020). doi:10.1002/ana.25723
Annals of neurology 88(1), 18-32 (2020). doi:10.1002/ana.25723
Objective Dominant optic atrophy (DOA) is the most common inherited optic neuropathy, with a prevalence of 1:12,000 to 1:25,000. OPA1 mutations are found in 70% of DOA patients, with a significant number remaining undiagnosed. Methods We screened 286
Autor:
Lorenzo Peverelli, Silvia Marchet, Andrea Legati, Nadia Zanetti, Daniele Ghezzi, Lorenzo Nanetti, Costanza Lamperti, Alessia Catania
Publikováno v:
American Journal of Medical Genetics Part A. 179:827-831
Here we report on a singleton patient affected by a complicated congenital syndrome characterized by growth delay, retinal dystrophy, sensorineural deafness, myopathy, ataxia, combined pituitary hormone deficiency, associated with mitochondrial impai
Autor:
Denise Cassandrini, Lorenzo Peverelli, Filippo M. Santorelli, Gigliola Fagiolari, P. Ciscato, Claudia Cinnante, Giorgio Conte, Serena Pagliarani, M. Sciacco, Giacomo P. Comi, Alberto Lerario, Roberta Telese, N. Grimoldi
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 8, Iss 9, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine, Vol 8, Iss 9, Pp n/a-n/a (2020)
Background Hereditary myosin myopathies are a group of rare muscle disorders, caused by mutations in genes encoding for skeletal myosin heavy chains (MyHCs). MyHCIIa is encoded by MYH2 and is expressed in fast type 2A and 2B muscle fibers. MYH2 mutat
Autor:
Alberto Lerario, Daniele Ghezzi, Alessia Nasca, Eleonora Lamantea, Costanza Lamperti, Valentina Galimberti, Lorenzo Peverelli, Andrea Legati
Publikováno v:
Muscle & Nerve. 60
Autor:
Michio Hirano, Ali Naini, Salvatore DiMauro, Lorenzo Peverelli, H. Orhan Akman, Carl A. Gold, Kurenai Tanji
Publikováno v:
Muscle & Nerve. 50:292-295
Introduction A 61-year-old woman with a five-year history of progressive muscle weakness and atrophy had a muscle biopsy characterized by a combination of dystrophic features (necrotic fibers and endomysial fibrosis) and mitochondrial alterations [ra