Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Lorenzo Peverelli"'
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:
Lorenzo Peverelli, Serena Pagliarani, Monica Sciacco, Changwei Liu, Massimiliano Filosto, Binghui Shen, Mafalda Rizzuti, Andreina Bordoni, Elisa Fassone, Weiqiang Lin, Li Zheng, Maria Teresa Ferrò, Francesca Magri, Alessio Di Fonzo, Stefania Corti, Nereo Bresolin, Giacomo P. Comi, Yate Ching Yuan, Michela Ranieri, Maurizio Moggio, Dario Ronchi, Hongzhi Li
Publikováno v:
The American Journal of Human Genetics. 92:293-300
Syndromes associated with multiple mtDNA deletions are due to different molecular defects that can result in a wide spectrum of predominantly adult-onset clinical presentations, ranging from progressive external ophthalmoplegia (PEO) to multisystemic