LMNA-associated myopathies: the Italian experience in a large cohort of patients

por Maggi, Lorenzo
Publicado 2015

Favorable outcome of COVID-19 infection in a patient with congenital myasthenic syndrome

por Bonanno, Silvia, Maggi, Lorenzo
Publicado 2021

Skeletal Muscle Laminopathies: A Review of Clinical and Molecular Features

por Maggi, Lorenzo, Carboni, Nicola, Bernasconi, Pia
Publicado 2016

Laminopathies

por Lattanzi, Giovanna, Maggi, Lorenzo, Araujo-Vilar, David
Publicado 2018

Editorial: New Insights in Skeletal Muscle Channelopathies - A Rapidly Expanding Field

por Maggi, Lorenzo, Matthews, Emma, Desaphy, Jean-François
Publicado 2020

Protein Aggregates and Aggrephagy in Myopathies

por Gibertini, Sara, Ruggieri, Alessandra, Cheli, Marta, Maggi, Lorenzo
Publicado 2023

Ion Channel Gene Mutations Causing Skeletal Muscle Disorders: Pathomechanisms and Opportunities for Therapy

por Maggi, Lorenzo, Bonanno, Silvia, Altamura, Concetta, Desaphy, Jean-François
Publicado 2021

Skeletal and Cardiac Muscle Disorders Caused by Mutations in Genes Encoding Intermediate Filament Proteins

por Maggi, Lorenzo, Mavroidis, Manolis, Psarras, Stelios, Capetanaki, Yassemi, Lattanzi, Giovanna
Publicado 2021

Imaging alterations in skeletal muscle channelopathies: a study in 15 patients

por Maggi, Lorenzo, Brugnoni, Raffaella, Canioni, Eleonora, Maccagnano, Elio, Bernasconi, Pia, Morandi, Lucia
Publicado 2015

A novel PNPLA2 mutation causing total loss of RNA and protein expression in two NLSDM siblings with early onset but slowly progressive severe myopathy

por Tavian, Daniela, Maggi, Lorenzo, Mora, Marina, Morandi, Lucia, Bragato, Cinzia, Missaglia, Sara
Publicado 2019

DNAJB6 Myopathies: Focused Review on an Emerging and Expanding Group of Myopathies

por Ruggieri, Alessandra, Saredi, Simona, Zanotti, Simona, Pasanisi, Maria Barbara, Maggi, Lorenzo, Mora, Marina
Publicado 2016

Novel HSPG2 Gene Mutation Causing Schwartz–Jampel Syndrome in a Moroccan Family: A Literature Review

por Brugnoni, Raffaella, Marelli, Daria, Iacomino, Nicola, Canioni, Eleonora, Cappelletti, Cristina, Maggi, Lorenzo, Ardissone, Anna
Publicado 2023

Up-regulation of Toll-like receptors 7 and 9 and its potential implications in the pathogenic mechanisms of LMNA-related myopathies

por Cappelletti, Cristina, Salerno, Franco, Canioni, Eleonora, Mora, Marina, Mantegazza, Renato, Bernasconi, Pia, Maggi, Lorenzo
Publicado 2018

Iatrogenic Kaposi’s sarcoma in myasthenia gravis: learnings from two case reports

por Frangiamore, Rita, Giossi, Riccardo, Vanoli, Fiammetta, Tourlaki, Athanasia, Brambilla, Lucia, Maggi, Lorenzo, Mantegazza, Renato
Publicado 2021

Muscle quantitative MRI in adult SMA patients on nusinersen treatment: a longitudinal study

por Gallone, Annamaria, Mazzi, Federica, Bonanno, Silvia, Zanin, Riccardo, Moscatelli, Marco, Aquino, Domenico, Maggi, Lorenzo
Publicado 2022

VCP-related myopathy: a case series and a review of literature

por Iannibelli, Eliana, Gibertini, Sara, Cheli, Marta, Blasevich, Flavia, Cavaliere, Andrea, Riolo, Giorgia, Ruggieri, Alessandra, Maggi, Lorenzo
Publicado 2023

Zebrafish as a Model to Investigate Dynamin 2-Related Diseases

por Bragato, Cinzia, Gaudenzi, Germano, Blasevich, Flavia, Pavesi, Giulio, Maggi, Lorenzo, Giunta, Michele, Cotelli, Franco, Mora, Marina
Publicado 2016

Alpha-sarcoglycanopathy presenting as myalgia and hyperCKemia in two adults with a long-term follow-up. Case reports

por Dosi, Claudia, Rubegni, Anna, Cassandrini, Denise, Malandrini, Alessandro, Maggi, Lorenzo, Donati, M. Alice, Santorelli, Filippo M.
Publicado 2020

Familial adult-onset Pompe disease associated with unusual clinical and histological features

por MAGGI, LORENZO, SALERNO, FRANCO, BRAGATO, CINZIA, SAREDI, SIMONA, BLASEVICH, FLAVIA, MACCAGNANO, ELIO, PASANISI, BARBARA, DANESINO, CESARE, MORA, MARINA, MORANDI, LUCIA
Publicado 2013

Muscle Proteomic Profile before and after Enzyme Replacement Therapy in Late-Onset Pompe Disease

por Moriggi, Manuela, Capitanio, Daniele, Torretta, Enrica, Barbacini, Pietro, Bragato, Cinzia, Sartori, Patrizia, Moggio, Maurizio, Maggi, Lorenzo, Mora, Marina, Gelfi, Cecilia
Publicado 2021