Bibliotecas PUC-SP - Busca Integrada

Skeletal Muscle Laminopathies: A Review of Clinical and Molecular Features

Por Lorenzo Maggi, Nicola Carboni, Pia Bernasconi
Publicado no Cells (2016-08-01)

Protein Aggregates and Aggrephagy in Myopathies

Por Sara Gibertini, Alessandra Ruggieri, Marta Cheli, Lorenzo Maggi
Publicado no International Journal of Molecular Sciences (2023-05-01)

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

Por Lorenzo Maggi, Emma Matthews, Emma Matthews, Jean-François Desaphy
Publicado no Frontiers in Neurology (2020-12-01)

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

Por Lorenzo Maggi, Silvia Bonanno, Concetta Altamura, Jean-François Desaphy
Publicado no Cells (2021-06-01)

Therapeutic efficacy of 3,4-Diaminopyridine phosphate on neuromuscular junction in Pompe disease

Por Cinzia Bragato, Flavia Blasevich, Gary Ingenito, Renato Mantegazza, Lorenzo Maggi
Publicado no Biomedicine & Pharmacotherapy (2021-05-01)

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

Por Lorenzo Maggi, Manolis Mavroidis, Stelios Psarras, Yassemi Capetanaki, Giovanna Lattanzi
Publicado no International Journal of Molecular Sciences (2021-04-01)

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 Daniela Tavian, Lorenzo Maggi, Marina Mora, Lucia Morandi, Cinzia Bragato, Sara Missaglia
Publicado no Genes and Diseases (2021-01-01)

DNAJB6 myopathies: Focused review on an emerging and expanding group of myopathies

Por Alessandra Ruggieri, Simona Saredi, Simona Zanotti, Barbara Maria Pasanisi, Lorenzo Maggi, Marina Mora
Publicado no Frontiers in Molecular Biosciences (2016-09-01)

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

Por Raffaella Brugnoni, Daria Marelli, Nicola Iacomino, Eleonora Canioni, Cristina Cappelletti, Lorenzo Maggi, Anna Ardissone
Publicado no Genes (2023-09-01)

Effectiveness of Nusinersen in Adolescents and Adults with Spinal Muscular Atrophy: Systematic Review and Meta-analysis

Por Tim Hagenacker, Lorenzo Maggi, Giorgia Coratti, Bora Youn, Stephanie Raynaud, Angela D. Paradis, Eugenio Mercuri
Publicado no Neurology and Therapy (2024-09-01)

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

Por Manuela Moriggi, Daniele Capitanio, Enrica Torretta, Pietro Barbacini, Cinzia Bragato, Patrizia Sartori, Maurizio Moggio, Lorenzo Maggi, Marina Mora, Cecilia Gelfi
Publicado no International Journal of Molecular Sciences (2021-03-01)

Amifampridine phosphate in the treatment of muscle-specific kinase myasthenia gravis: a phase IIb, randomized, double-blind, placebo-controlled, double crossover study

Por Silvia Bonanno, Maria Barbara Pasanisi, Rita Frangiamore, Lorenzo Maggi, Carlo Antozzi, Francesca Andreetta, Angela Campanella, Greta Brenna, Lorenzo Cottini, Renato Mantegazza
Publicado no SAGE Open Medicine (2018-12-01)

Inflammation and Epstein-Barr Virus Infection Are Common Features of Myasthenia Gravis Thymus: Possible Roles in Pathogenesis

Por Paola Cavalcante, Lorenzo Maggi, Lara Colleoni, Rosa Caldara, Teresio Motta, Carmelo Giardina, Carlo Antozzi, Sonia Berrih-Aknin, Pia Bernasconi, Renato Mantegazza
Publicado no Autoimmune Diseases (2011-01-01)

Long term follow-up and further molecular and histopathological studies in the LGMD1F sporadic TNPO3-mutated patient

Por Sara Gibertini, Alessandra Ruggieri, Simona Saredi, Franco Salerno, Flavia Blasevich, Laura Napoli, Maurizio Moggio, Vincenzo Nigro, Lucia Morandi, Lorenzo Maggi, Marina Mora
Publicado no Acta Neuropathologica Communications (2018-12-01)

Gain-of-Function STIM1 L96V Mutation Causes Myogenesis Alteration in Muscle Cells From a Patient Affected by Tubular Aggregate Myopathy

Por Elena Conte, Alessandra Pannunzio, Paola Imbrici, Giulia Maria Camerino, Lorenzo Maggi, Marina Mora, Sara Gibertini, Ornella Cappellari, Annamaria De Luca, Mauro Coluccia, Antonella Liantonio
Publicado no Frontiers in Cell and Developmental Biology (2021-02-01)

Antisense Morpholino-Based In Vitro Correction of a Pseudoexon-Generating Variant in the <i>SGCB</i> Gene

Por Francesca Magri, Simona Zanotti, Sabrina Salani, Francesco Fortunato, Patrizia Ciscato, Simonetta Gerevini, Lorenzo Maggi, Monica Sciacco, Maurizio Moggio, Stefania Corti, Nereo Bresolin, Giacomo Pietro Comi, Dario Ronchi
Publicado no International Journal of Molecular Sciences (2022-08-01)

Anti-cN1A Antibodies Are Associated with More Severe Dysphagia in Sporadic Inclusion Body Myositis

Por Matteo Lucchini, Lorenzo Maggi, Elena Pegoraro, Massimiliano Filosto, Carmelo Rodolico, Giovanni Antonini, Matteo Garibaldi, Maria Lucia Valentino, Gabriele Siciliano, Giorgio Tasca, Valeria De Arcangelis, Chiara De Fino, Massimiliano Mirabella
Publicado no Cells (2021-05-01)

Biobank of Cells, Tissues and DNA from Patients with Neuromuscular Diseases: An Indispensable link between Clinical Centers and the Scientific Community

Por Marina Mora, Cinzia Bragato, Sara Gibertini, Simona Zanotti, Maurizio Curcio, Eleonora Canioni, Franco Salerno, Flavia Blasevich, Simona Saredi, Alessandra Ruggieri, Maria Barbara Pasanisi, Pia Bernasconi, Lorenzo Maggi, Renato Mantegazza, Francesca Andreetta
Publicado no Open Journal of Bioresources (2017-02-01)

Circulating MyomiRs as Potential Biomarkers to Monitor Response to Nusinersen in Pediatric SMA Patients

Por Silvia Bonanno, Stefania Marcuzzo, Claudia Malacarne, Eleonora Giagnorio, Riccardo Masson, Riccardo Zanin, Maria Teresa Arnoldi, Francesca Andreetta, Ornella Simoncini, Anna Venerando, Cinzia Gellera, Chiara Pantaleoni, Renato Mantegazza, Pia Bernasconi, Giovanni Baranello, Lorenzo Maggi
Publicado no Biomedicines (2020-01-01)

Experimental Evaluation of a New Perfusion Machine Using Normothermic Cycles on Explanted Livers

Por Eleonora Barcali, Lorenzo Maggi, Rebecca Panconesi, Fabio Staderini, Leonardo Bocchi, Cosimo Nardi, Nadia Navari, Adriano Peris, Matteo Risaliti, Mauricio F. Carvalho, Fabio Marra, Philipp Dutkowski, Gian Luca Grazi, Andrea Schlegel, Filippo Bigi, Mattia Dimitri, Andrea Corvi
Publicado no IEEE Open Journal of Engineering in Medicine and Biology (2025-01-01)