Zobrazeno 1 - 10
of 36
pro vyhledávání: '"Lorenzo Peverelli"'
Autor:
Federica Invernizzi, Rossella Izzo, Isabel Colangelo, Andrea Legati, Nadia Zanetti, Barbara Garavaglia, Eleonora Lamantea, Lorenzo Peverelli, Anna Ardissone, Isabella Moroni, Lorenzo Maggi, Silvia Bonanno, Laura Fiori, Daniele Velardo, Francesca Magri, Giacomo P. Comi, Dario Ronchi, Daniele Ghezzi, Costanza Lamperti
Publikováno v:
Genes, Vol 14, Iss 7, p 1393 (2023)
Introduction/Aims HyperCKemia is considered a hallmark of neuromuscular diseases. It can be either isolated or associated with cramps, myalgia, weakness, myoglobinuria, or rhabdomyolysis, suggesting a metabolic myopathy. The aim of this work was to i
Externí odkaz:
https://doaj.org/article/605e723c0c2d465699438f6f48d52687
Autor:
Lorenzo Peverelli, Alessia Catania, Silvia Marchet, Paola Ciasca, Gabriella Cammarata, Lisa Melzi, Antonella Bellino, Roberto Fancellu, Eleonora Lamantea, Mariantonietta Capristo, Leonardo Caporali, Chiara La Morgia, Valerio Carelli, Daniele Ghezzi, Stefania Bianchi Marzoli, Costanza Lamperti
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Leber's hereditary optic neuropathy (LHON) is due to missense point mutations affecting mitochondrial DNA (mtDNA); 90% of cases harbor the m.3460G>A, m.11778G>A, and m.14484T>C primary mutations. Here, we report and discuss five families with patient
Externí odkaz:
https://doaj.org/article/82690020455248a6bb45bb57ac68e2f4
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:
Delia Gagliardi, Eleonora Mauri, Francesca Magri, Daniele Velardo, Megi Meneri, Elena Abati, Roberta Brusa, Irene Faravelli, Daniela Piga, Dario Ronchi, Fabio Triulzi, Lorenzo Peverelli, Monica Sciacco, Nereo Bresolin, Giacomo Pietro Comi, Stefania Corti, Alessandra Govoni
Publikováno v:
Frontiers in Neurology, Vol 10 (2019)
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a maternally inherited mitochondrial disorder that is most commonly caused by the m. 3243A>G mutation in the MT-TL1 mitochondrial DNA gene, resulting in im
Externí odkaz:
https://doaj.org/article/1e60b474a92549c2826f75dd572ae0f9
Autor:
Teresa Giugliano, Marco Savarese, Arcomaria Garofalo, Esther Picillo, Chiara Fiorillo, Adele D’Amico, Lorenzo Maggi, Lucia Ruggiero, Liliana Vercelli, Francesca Magri, Fabiana Fattori, Annalaura Torella, Manuela Ergoli, Anna Rubegni, Marina Fanin, Olimpia Musumeci, Jan De Bleecker, Lorenzo Peverelli, Maurizio Moggio, Eugenio Mercuri, Antonio Toscano, Marina Mora, Lucio Santoro, Tiziana Mongini, Enrico Bertini, Claudio Bruno, Carlo Minetti, Giacomo Pietro Comi, Filippo Maria Santorelli, Corrado Angelini, Luisa Politano, Giulio Piluso, Vincenzo Nigro
Publikováno v:
Genes, Vol 9, Iss 11, p 524 (2018)
Next-generation sequencing (NGS) technologies have led to an increase in the diagnosis of heterogeneous genetic conditions. However, over 50% of patients with a genetically inherited disease are still without a diagnosis. In these cases, different hy
Externí odkaz:
https://doaj.org/article/5449d8b88bf3433587a0713eb745e1bf
Autor:
Alexander Sonne, Lorenzo Peverelli, Aurelio Hernandez-Lain, Cristina Domínguez-González, Jesper L. Andersen, Margherita Milone, Alan H. Beggs, Julien Ochala
Publikováno v:
American Journal of Physiology-Cell Physiology. 324:C769-C776
Congenital myopathies are a vast group of genetic muscle diseases. Among the causes are mutations in the MYH2 gene resulting in truncated type IIa myosin heavy chains (MyHCs). The precise cellular and molecular mechanisms by which these mutations ind
Autor:
Lamperti, Federica Invernizzi, Rossella Izzo, Isabel Colangelo, Andrea Legati, Nadia Zanetti, Barbara Garavaglia, Eleonora Lamantea, Lorenzo Peverelli, Anna Ardissone, Isabella Moroni, Lorenzo Maggi, Silvia Bonanno, Laura Fiori, Daniele Velardo, Francesca Magri, Giacomo P. Comi, Dario Ronchi, Daniele Ghezzi, Costanza
Publikováno v:
Genes; Volume 14; Issue 7; Pages: 1393
Introduction/Aims HyperCKemia is considered a hallmark of neuromuscular diseases. It can be either isolated or associated with cramps, myalgia, weakness, myoglobinuria, or rhabdomyolysis, suggesting a metabolic myopathy. The aim of this work was to i
Autor:
Sabrina Lucchiari, Lorenzo Peverelli, Giacomo P. Comi, Sara Gibertini, Andrea Salmaggi, Serena Pagliarani, Andrea Rigamonti, Vittorio Mantero
Publikováno v:
Neurological Sciences. 42:5359-5363
Introduction Mutations of the skeletal muscle sodium channel gene SCN4A are associated with several neuromuscular disorders including hyper/hypokaliemic periodic paralysis, paramyotonia congenita and sodium channel myotonia. These disorders are disti
Autor:
Filippo Martinelli‑Boneschi, Antonio Colombo, Nereo Bresolin, Maria Sessa, Pietro Bassi, Giampiero Grampa, Eugenio Magni, Maurizio Versino, Carlo Ferrarese, Davide Zarcone, Alberto Albanese, Giuseppe Micieli, Carla Zanferrari, Antonio Cagnana, Claudio Ferrante, Angelo Zilioli, Davide Locatelli, Maria Vittoria Calloni, Maria Luisa Delodovici, Mattia Pozzato, Valerio Patisso, Francesco Bortolan, Camillo Foresti, Barbara Frigeni, Stefania Canella, Rubjona Xhani, Massimo Crabbio, Alessandro Clemenzi, Marco Mauri, Simone Beretta, Isidoro La Spina, Simona Bernasconi, Tiziana De Santis, Anna Cavallini, Michela Ranieri, Elisabetta D’Adda, Maria Elisa Fruguglietti, Lorenzo Peverelli, Edoardo Agosti, Olivia Leoni, Andrea Rigamonti, Andrea Salmaggi
Publikováno v:
Neurological Sciences. 44:1475-1476
Autor:
Filippo Martinelli-Boneschi, Antonio Colombo, Nereo Bresolin, Maria Sessa, Pietro Bassi, Giampiero Grampa, Eugenio Magni, Maurizio Versino, Carlo Ferrarese, Davide Zarcone, Alberto Albanese, Giuseppe Micieli, Carla Zanferrari, Antonio Cagnana, Claudio Ferrante, Angelo Zilioli, Davide Locatelli, Maria Vittoria Calloni, Maria Luisa Delodovici, Mattia Pozzato, Valerio Patisso, Francesco Bortolan, Camillo Foresti, Barbara Frigeni, Stefania Canella, Rubjona Xhani, Massimo Crabbio, Alessandro Clemenzi, Marco Mauri, Simone Beretta, Isidoro La Spina, Simona Bernasconi, Tiziana De Santis, Anna Cavallini, Michela Ranieri, Elisabetta D’Adda, Maria Elisa Fruguglietti, Lorenzo Peverelli, Edoardo Agosti, Olivia Leoni, Andrea Rigamonti, Andrea Salmaggi
Publikováno v:
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology.
Objective To estimate the incidence and describe clinical characteristics and outcome of GBS in COVID-19 patients (COVID19-GBS) in one of the most hit regions during the first pandemic wave, Lombardia. Methods Adult patients admitted to 20 Neurologic