The Profiling of 179 miRNA Expression in Serum from Limb Girdle Muscular Dystrophy Patients and Healthy Controls
Magri, Francesca, Napoli, Laura, Ripolone, Michela, Ciscato, Patrizia, Moggio, Maurizio, Corti, Stefania, Comi, Giacomo Pietro, Sciacco, Monica, Zanotti, Simona
Published in International journal of molecular sciences (12.12.2023)
Published in International journal of molecular sciences (12.12.2023)
Get full text
Journal Article
Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease
Kornblum, Cornelia, Nicholls, Thomas J, Haack, Tobias B, Schöler, Susanne, Peeva, Viktoriya, Danhauser, Katharina, Hallmann, Kerstin, Zsurka, Gábor, Rorbach, Joanna, Iuso, Arcangela, Wieland, Thomas, Sciacco, Monica, Ronchi, Dario, Comi, Giacomo P, Moggio, Maurizio, Quinzii, Catarina M, DiMauro, Salvatore, Calvo, Sarah E, Mootha, Vamsi K, Klopstock, Thomas, Strom, Tim M, Meitinger, Thomas, Minczuk, Michal, Kunz, Wolfram S, Prokisch, Holger
Published in Nature genetics (01.02.2013)
Published in Nature genetics (01.02.2013)
Get full text
Journal Article
Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation
Mancuso, Michelangelo, Orsucci, Daniele, Angelini, Corrado, Bertini, Enrico, Carelli, Valerio, Comi, Giacomo Pietro, Minetti, Carlo, Moggio, Maurizio, Mongini, Tiziana, Servidei, Serenella, Tonin, Paola, Toscano, Antonio, Uziel, Graziella, Bruno, Claudio, Caldarazzo Ienco, Elena, Filosto, Massimiliano, Lamperti, Costanza, Martinelli, Diego, Moroni, Isabella, Musumeci, Olimpia, Pegoraro, Elena, Ronchi, Dario, Santorelli, Filippo Maria, Sauchelli, Donato, Scarpelli, Mauro, Sciacco, Monica, Spinazzi, Marco, Valentino, Maria Lucia, Vercelli, Liliana, Zeviani, Massimo, Siciliano, Gabriele
Published in Neurology (28.05.2013)
Published in Neurology (28.05.2013)
Get more information
Journal Article
Association between ZASP/LDB3 Pro26Ser and Inclusion Body Myopathy
Piga, Daniela, Zanotti, Simona, Ripolone, Michela, Napoli, Laura, Ciscato, Patrizia, Gibertini, Sara, Maggi, Lorenzo, Fortunato, Francesco, Rigamonti, Andrea, Ronchi, Dario, Comi, Giacomo Pietro, Corti, Stefania, Sciacco, Monica
Published in International journal of molecular sciences (01.06.2024)
Published in International journal of molecular sciences (01.06.2024)
Get full text
Journal Article
Nutritional Challenges in Duchenne Muscular Dystrophy
Salera, Simona, Menni, Francesca, Moggio, Maurizio, Guez, Sophie, Sciacco, Monica, Esposito, Susanna
Published in Nutrients (10.06.2017)
Published in Nutrients (10.06.2017)
Get full text
Journal Article
Mutations in DNA2 Link Progressive Myopathy to Mitochondrial DNA Instability
Ronchi, Dario, Di Fonzo, Alessio, Lin, Weiqiang, Bordoni, Andreina, Liu, Changwei, Fassone, Elisa, Pagliarani, Serena, Rizzuti, Mafalda, Zheng, Li, Filosto, Massimiliano, Ferrò, Maria Teresa, Ranieri, Michela, Magri, Francesca, Peverelli, Lorenzo, Li, Hongzhi, Yuan, Yate-Ching, Corti, Stefania, Sciacco, Monica, Moggio, Maurizio, Bresolin, Nereo, Shen, Binghui, Comi, Giacomo Pietro
Published in American journal of human genetics (07.02.2013)
Published in American journal of human genetics (07.02.2013)
Get full text
Journal Article
Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes
Zanotti, Simona, Magri, Francesca, Salani, Sabrina, Napoli, Laura, Ripolone, Michela, Ronchi, Dario, Fortunato, Francesco, Ciscato, Patrizia, Velardo, Daniele, D'Angelo, Maria Grazia, Gualandi, Francesca, Nigro, Vincenzo, Sciacco, Monica, Corti, Stefania, Comi, Giacomo Pietro, Piga, Daniela
Published in International journal of molecular sciences (01.03.2023)
Published in International journal of molecular sciences (01.03.2023)
Get full text
Journal Article
Antisense Morpholino-Based In Vitro Correction of a Pseudoexon-Generating Variant in the SGCB Gene
Magri, Francesca, Zanotti, Simona, Salani, Sabrina, Fortunato, Francesco, Ciscato, Patrizia, Gerevini, Simonetta, Maggi, Lorenzo, Sciacco, Monica, Moggio, Maurizio, Corti, Stefania, Bresolin, Nereo, Comi, Giacomo Pietro, Ronchi, Dario
Published in International journal of molecular sciences (29.08.2022)
Published in International journal of molecular sciences (29.08.2022)
Get full text
Journal Article
The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?
Mancuso, Michelangelo, Orsucci, Daniele, Angelini, Corrado, Bertini, Enrico, Carelli, Valerio, Comi, Giacomo Pietro, Donati, Alice, Minetti, Carlo, Moggio, Maurizio, Mongini, Tiziana, Servidei, Serenella, Tonin, Paola, Toscano, Antonio, Uziel, Graziella, Bruno, Claudio, Ienco, Elena Caldarazzo, Filosto, Massimiliano, Lamperti, Costanza, Catteruccia, Michela, Moroni, Isabella, Musumeci, Olimpia, Pegoraro, Elena, Ronchi, Dario, Santorelli, Filippo Maria, Sauchelli, Donato, Scarpelli, Mauro, Sciacco, Monica, Valentino, Maria Lucia, Vercelli, Liliana, Zeviani, Massimo, Siciliano, Gabriele
Published in Journal of neurology (01.03.2014)
Published in Journal of neurology (01.03.2014)
Get full text
Journal Article
Muscle histological changes in a large cohort of patients affected with Becker muscular dystrophy
Ripolone, Michela, Velardo, Daniele, Mondello, Stefania, Zanotti, Simona, Magri, Francesca, Minuti, Elisa, Cazzaniga, Sara, Fortunato, Francesco, Ciscato, Patrizia, Tiberio, Francesca, Sciacco, Monica, Moggio, Maurizio, Bettica, Paolo, Comi, Giacomo P
Published in Acta neuropathologica communications (08.04.2022)
Published in Acta neuropathologica communications (08.04.2022)
Get full text
Journal Article
Non-alcoholic beriberi, Wernicke encephalopathy and long-term eating disorder: case report and a mini-review
Mantero, Vittorio, Rifino, Nicola, Costantino, Gisella, Farina, Andrea, Pozzetti, Ugo, Sciacco, Monica, Ripolone, Michela, Bianchi, Graziella, Salmaggi, Andrea, Rigamonti, Andrea
Published in Eating and weight disorders (01.03.2021)
Published in Eating and weight disorders (01.03.2021)
Get full text
Journal Article
Immunofluorescence signal intensity measurements as a semi-quantitative tool to assess sarcoglycan complex expression in muscle biopsy
Zanotti, Simona, Magri, Francesca, Poggetti, Francesca, Ripolone, Michela, Velardo, Daniele, Fortunato, Francesco, Ciscato, Patrizia, Moggio, Maurizio, Corti, Stefania, Comi, Giacomo Pietro, Sciacco, Monica
Published in European journal of histochemistry (01.09.2022)
Published in European journal of histochemistry (01.09.2022)
Get full text
Journal Article
TYMP Variants Result in Late-Onset Mitochondrial Myopathy With Altered Muscle Mitochondrial DNA Homeostasis
Ronchi, Dario, Caporali, Leonardo, Manenti, Giulia Francesca, Meneri, Megi, Mohamed, Susan, Bordoni, Andreina, Tagliavini, Francesca, Contin, Manuela, Piga, Daniela, Sciacco, Monica, Saetti, Cristina, Carelli, Valerio, Comi, Giacomo Pietro
Published in Frontiers in genetics (05.08.2020)
Published in Frontiers in genetics (05.08.2020)
Get full text
Journal Article
Early Findings in Neonatal Cases of RYR1–Related Congenital Myopathies
Mauri, Eleonora, Piga, Daniela, Govoni, Alessandra, Brusa, Roberta, Pagliarani, Serena, Ripolone, Michela, Dilena, Robertino, Cinnante, Claudia, Sciacco, Monica, Cassandrini, Denise, Nigro, Vincenzo, Bresolin, Nereo, Corti, Stefania, Comi, Giacomo P., Magri, Francesca
Published in Frontiers in neurology (28.06.2021)
Published in Frontiers in neurology (28.06.2021)
Get full text
Journal Article
Megaconial congenital muscular dystrophy due to novel CHKB variants: a case report and literature review
Magri, Francesca, Antognozzi, Sara, Ripolone, Michela, Zanotti, Simona, Napoli, Laura, Ciscato, Patrizia, Velardo, Daniele, Scuvera, Giulietta, Nicotra, Valeria, Giacobbe, Antonella, Milani, Donatella, Fortunato, Francesco, Garbellini, Manuela, Sciacco, Monica, Corti, Stefania, Comi, Giacomo Pietro, Ronchi, Dario
Published in Skeletal muscle (29.09.2022)
Published in Skeletal muscle (29.09.2022)
Get full text
Journal Article
Can Intestinal Pseudo-Obstruction Drive Recurrent Stroke-Like Episodes in Late-Onset MELAS Syndrome? A Case Report and Review of the Literature
Gagliardi, Delia, Mauri, Eleonora, Magri, Francesca, Velardo, Daniele, Meneri, Megi, Abati, Elena, Brusa, Roberta, Faravelli, Irene, Piga, Daniela, Ronchi, Dario, Triulzi, Fabio, Peverelli, Lorenzo, Sciacco, Monica, Bresolin, Nereo, Comi, Giacomo Pietro, Corti, Stefania, Govoni, Alessandra
Published in Frontiers in neurology (31.01.2019)
Published in Frontiers in neurology (31.01.2019)
Get full text
Journal Article
Characterization of Skeletal Muscle Biopsy and Derived Myoblasts in a Patient Carrying Arg14del Mutation in Phospholamban Gene
Zanotti, Simona, Ripolone, Michela, Napoli, Laura, Velardo, Daniele, Salani, Sabrina, Ciscato, Patrizia, Priori, Silvia, Kukavica, Deni, Mazzanti, Andrea, Diamanti, Luca, Vegezzi, Elisa, Moggio, Maurizio, Corti, Stefania, Comi, Giacomo, Sciacco, Monica
Published in Cells (Basel, Switzerland) (17.05.2023)
Published in Cells (Basel, Switzerland) (17.05.2023)
Get full text
Journal Article
A novel RRM2B mutation associated with mitochondrial DNA depletion syndrome
Fumagalli, Monica, Ronchi, Dario, Bedeschi, Maria Francesca, Manini, Arianna, Cristofori, Gloria, Mosca, Fabio, Dilena, Robertino, Sciacco, Monica, Zanotti, Simona, Piga, Daniela, Ardissino, Gianluigi, Triulzi, Fabio, Corti, Stefania, Comi, Giacomo P., Salviati, Leonardo
Published in Molecular genetics and metabolism reports (01.09.2022)
Published in Molecular genetics and metabolism reports (01.09.2022)
Get full text
Journal Article
Genetic defects are common in myopathies with tubular aggregates
Gang, Qiang, Bettencourt, Conceição, Brady, Stefen, Holton, Janice L., Healy, Estelle G., McConville, John, Morrison, Patrick J., Ripolone, Michela, Violano, Raffaella, Sciacco, Monica, Moggio, Maurizio, Mora, Marina, Mantegazza, Renato, Zanotti, Simona, Wang, Zhaoxia, Yuan, Yun, Liu, Wei‐wei, Beeson, David, Hanna, Michael, Houlden, Henry
Published in Annals of clinical and translational neurology (01.01.2022)
Published in Annals of clinical and translational neurology (01.01.2022)
Get full text
Journal Article