Protein Aggregates and Aggrephagy in Myopathies
Gibertini, Sara, Ruggieri, Alessandra, Cheli, Marta, Maggi, Lorenzo
Published in International journal of molecular sciences (08.05.2023)
Published in International journal of molecular sciences (08.05.2023)
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Association between ZASP/LDB3 Pro26Ser and Inclusion Body Myopathy
Piga, Daniela, Zanotti, Simona, Ripolone, Michela, Napoli, Laura, Ciscato, Patrizia, Gibe, Maggi, Lorenzo, Fortunato, Francesco, Rigamonti, Andrea, Ronchi, Dario, Comi, Giacomo Pietro, Co, Sciacco, Monica
Published in International journal of molecular sciences (01.06.2024)
Published in International journal of molecular sciences (01.06.2024)
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Multiomic elucidation of a coding 99-mer repeat-expansion skeletal muscle disease
Ruggieri, Alessandra, Naumenko, Sergey, Smith, Martin A., Iannibelli, Eliana, Blasevich, Flavia, Bragato, Cinzia, Gibertini, Sara, Barton, Kirston, Vorgerd, Matthias, Marcus, Katrin, Wang, Peixiang, Maggi, Lorenzo, Mantegazza, Renato, Dowling, James J., Kley, Rudolf A., Mora, Marina, Minassian, Berge A.
Published in Acta neuropathologica (01.08.2020)
Published in Acta neuropathologica (01.08.2020)
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Journal Article
p.Asn1180Ile mutation of SCN4A gene in an Italian family with myopathy and myotonic syndrome
Rigamonti, Andrea, Mantero, Vittorio, Peverelli, Lorenzo, Pagliarani, Serena, Lucchiari, Sabrina, Comi, Giacomo, Gibertini, Sara, Salmaggi, Andrea
Published in Neurological sciences (01.12.2021)
Published in Neurological sciences (01.12.2021)
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Journal Article
Osteopontin is highly expressed in severely dystrophic muscle and seems to play a role in muscle regeneration and fibrosis
Zanotti, Simona, Gibertini, Sara, Di Blasi, Claudia, Cappelletti, Cristina, Bernasconi, Pia, Mantegazza, Renato, Morandi, Lucia, Mora, Marina
Published in Histopathology (01.12.2011)
Published in Histopathology (01.12.2011)
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Gain-of-Function STIM1 L96V Mutation Causes Myogenesis Alteration in Muscle Cells From a Patient Affected by Tubular Aggregate Myopathy
Conte, Elena, Pannunzio, Alessandra, Imbrici, Paola, Camerino, Giulia Maria, Maggi, Lorenzo, Mora, Marina, Gibertini, Sara, Cappellari, Ornella, De Luca, Annamaria, Coluccia, Mauro, Liantonio, Antonella
Published in Frontiers in cell and developmental biology (26.02.2021)
Published in Frontiers in cell and developmental biology (26.02.2021)
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Long term follow-up and further molecular and histopathological studies in the LGMD1F sporadic TNPO3-mutated patient
Gibertini, Sara, Ruggieri, Alessandra, Saredi, Simona, Salerno, Franco, Blasevich, Flavia, Napoli, Laura, Moggio, Maurizio, Nigro, Vincenzo, Morandi, Lucia, Maggi, Lorenzo, Mora, Marina
Published in Acta neuropathologica communications (19.12.2018)
Published in Acta neuropathologica communications (19.12.2018)
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Journal Article
Biobank of Cells, Tissues and DNA from Patients with Neuromuscular Diseases: An Indispensable link between Clinical Centers and the Scientific Community
Mora, Marina, Bragato, Cinzia, Gibertini, Sara, Zanotti, Simona, Curcio, Maurizio, Canioni, Eleonora, Salerno, Franco, Blasevich, Flavia, Saredi, Simona, Ruggieri, Alessandra, Pasanisi, Maria Barbara, Bernasconi, Pia, Maggi, Lorenzo, Mantegazza, Renato, Andreetta, Francesca
Published in Open journal of bioresources (13.02.2017)
Published in Open journal of bioresources (13.02.2017)
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Journal Article
Exosomes and exosomal miRNAs from muscle-derived fibroblasts promote skeletal muscle fibrosis
Zanotti, Simona, Gibertini, Sara, Blasevich, Flavia, Bragato, Cinzia, Ruggieri, Alessandra, Saredi, Simona, Fabbri, Marco, Bernasconi, Pia, Maggi, Lorenzo, Mantegazza, Renato, Mora, Marina
Published in Matrix biology (01.12.2018)
Published in Matrix biology (01.12.2018)
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Journal Article
Opposing roles of miR-21 and miR-29 in the progression of fibrosis in Duchenne muscular dystrophy
Zanotti, Simona, Gibertini, Sara, Curcio, Maurizio, Savadori, Paolo, Pasanisi, Barbara, Morandi, Lucia, Cornelio, Ferdinando, Mantegazza, Renato, Mora, Marina
Published in Biochimica et biophysica acta (01.07.2015)
Published in Biochimica et biophysica acta (01.07.2015)
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Journal Article
PLIN4-related myopathy: clinical, histological and imaging data in a large cohort of patients
Maggi, Lorenzo, Gibertini, Sara, Iannibelli, Eliana, Gallone, Annamaria, Bonanno, Silvia, Cazzato, Daniele, Gerevini, Simonetta, Moscatelli, Marco, Blasevich, Flavia, Riolo, Giorgia, Mantegazza, Renato, Ruggieri, Alessandra
Published in Journal of neurology (01.09.2023)
Published in Journal of neurology (01.09.2023)
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Journal Article
Identification of a muscle-specific isoform of VMA21 as a potent actor in X-linked myopathy with excessive autophagy pathogenesis
Cocchiararo, Ilaria, Cattaneo, Olivia, Rajendran, Jayasimman, Chabry, Florent, Cornut, Mélanie, Soldati, Hadrien, Bigot, Anne, Mamchaoui, Kamel, Gibertini, Sara, Bouche, Axelle, Ham, Daniel J, Laumonier, Thomas, Prola, Alexandre, Castets, Perrine
Published in Human molecular genetics (01.12.2023)
Published in Human molecular genetics (01.12.2023)
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Exome sequencing detects compound heterozygous nonsense LAMA2 mutations in two siblings with atypical phenotype and nearly normal brain MRI
Saredi, Simona, Gibertini, Sara, Matalonga, Leslie, Farina, Laura, Ardissone, Anna, Moroni, Isabella, Mora, Marina
Published in Neuromuscular disorders : NMD (01.05.2019)
Published in Neuromuscular disorders : NMD (01.05.2019)
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Journal Article
Interpreting Genetic Variants in Titin in Patients With Muscle Disorders
Savarese, Marco, Maggi, Lorenzo, Vihola, Anna, Jonson, Per Harald, Tasca, Giorgio, Ruggiero, Lucia, Bello, Luca, Magri, Francesca, Giugliano, Teresa, Torella, Annalaura, Evilä, Anni, Di Fruscio, Giuseppina, Vanakker, Olivier, Gibertini, Sara, Vercelli, Liliana, Ruggieri, Alessandra, Antozzi, Carlo, Luque, Helena, Janssens, Sandra, Pasanisi, Maria Barbara, Fiorillo, Chiara, Raimondi, Monika, Ergoli, Manuela, Politano, Luisa, Bruno, Claudio, Rubegni, Anna, Pane, Marika, Santorelli, Filippo M, Minetti, Carlo, Angelini, Corrado, De Bleecker, Jan, Moggio, Maurizio, Mongini, Tiziana, Comi, Giacomo Pietro, Santoro, Lucio, Mercuri, Eugenio, Pegoraro, Elena, Mora, Marina, Hackman, Peter, Udd, Bjarne, Nigro, Vincenzo
Published in JAMA neurology (01.05.2018)
Published in JAMA neurology (01.05.2018)
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Journal Article
VCP-related myopathy: a case series and a review of literature
Iannibelli, Eliana, Gibertini, Sara, Cheli, Marta, Blasevich, Flavia, Cavaliere, Andrea, Riolo, Giorgia, Ruggieri, Alessandra, Maggi, Lorenzo
Published in Acta myologica (31.03.2023)
Published in Acta myologica (31.03.2023)
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Journal Article
A novel mutation in the N-terminal acting-binding domain of Filamin C protein causing a distal myofibrillar myopathy
Gemelli, Chiara, Prada, Valeria, Fiorillo, Chiara, Fabbri, Sabrina, Maggi, Lorenzo, Geroldi, Alessandro, Gibertini, Sara, Mandich, Paola, Trevisan, Lucia, Fossa, Paola, Tagliafico, Alberto Stefano, Schenone, Angelo, Grandis, Marina
Published in Journal of the neurological sciences (15.03.2019)
Published in Journal of the neurological sciences (15.03.2019)
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Journal Article
Late onset of neutral lipid storage disease due to novel PNPLA2 mutations causing total loss of lipase activity in a patient with myopathy and slight cardiac involvement
Missaglia, Sara, Maggi, Lorenzo, Mora, Marina, Gibertini, Sara, Blasevich, Flavia, Agostoni, Piergiuseppe, Moro, Laura, Cassandrini, Denise, Santorelli, Filippo Maria, Gerevini, Simonetta, Tavian, Daniela
Published in Neuromuscular disorders : NMD (01.05.2017)
Published in Neuromuscular disorders : NMD (01.05.2017)
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Journal Article
212. Botulinum neurotoxin type A affects muscle cells but not muscle-derived fibroblasts
Zanotti, Simona, Kapetis, Dimos, Gibertini, Sara, Mora, Marina, Molteni, Franco
Published in Toxicon (Oxford) (01.01.2015)
Published in Toxicon (Oxford) (01.01.2015)
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