Glial cells involvement in spinal muscular atrophy: Could SMA be a neuroinflammatory disease?
Abati, Elena, Citterio, Gaia, Bresolin, Nereo, Comi, Giacomo P., Corti, Stefania
Published in Neurobiology of disease (01.07.2020)
Published in Neurobiology of disease (01.07.2020)
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MFN2-related neuropathies: Clinical features, molecular pathogenesis and therapeutic perspectives
Stuppia, Giulia, Rizzo, Federica, Riboldi, Giulietta, Del Bo, Roberto, Nizzardo, Monica, Simone, Chiara, Comi, Giacomo P, Bresolin, Nereo, Corti, Stefania
Published in Journal of the neurological sciences (15.09.2015)
Published in Journal of the neurological sciences (15.09.2015)
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Genetic Modifiers of Duchenne Muscular Dystrophy and Dilated Cardiomyopathy
Barp, Andrea, Bello, Luca, Politano, Luisa, Melacini, Paola, Calore, Chiara, Polo, Angela, Vianello, Sara, Sorarù, Gianni, Semplicini, Claudio, Pantic, Boris, Taglia, Antonella, Picillo, Ester, Magri, Francesca, Gorni, Ksenija, Messina, Sonia, Vita, Gian Luca, Vita, Giuseppe, Comi, Giacomo P, Ermani, Mario, Calvo, Vincenzo, Angelini, Corrado, Hoffman, Eric P, Pegoraro, Elena
Published in PloS one (29.10.2015)
Published in PloS one (29.10.2015)
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MicroRNAs as regulators of cell death mechanisms in amyotrophic lateral sclerosis
Gagliardi, Delia, Comi, Giacomo P., Bresolin, Nereo, Corti, Stefania
Published in Journal of cellular and molecular medicine (01.03.2019)
Published in Journal of cellular and molecular medicine (01.03.2019)
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Parasites represent a major selective force for interleukin genes and shape the genetic predisposition to autoimmune conditions
Fumagalli, Matteo, Pozzoli, Uberto, Cagliani, Rachele, Comi, Giacomo P, Riva, Stefania, Clerici, Mario, Bresolin, Nereo, Sironi, Manuela
Published in The Journal of experimental medicine (08.06.2009)
Published in The Journal of experimental medicine (08.06.2009)
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SCARB1 downregulation in adrenal insufficiency with Allgrove syndrome
Bitetto, Giacomo, Lopez, Gianluca, Ronchi, Dario, Pittaro, Alessandra, Melzi, Valentina, Peverelli, Erika, Cribiù, Fulvia Milena, Comi, Giacomo P, Mantovani, Giovanna, Di Fonzo, Alessio
Published in Orphanet journal of rare diseases (19.06.2023)
Published in Orphanet journal of rare diseases (19.06.2023)
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Molecular Therapeutic Strategies for Spinal Muscular Atrophies: Current and Future Clinical Trials
Zanetta, Chiara, MD, Nizzardo, Monica, PhD, Simone, Chiara, PhD, Monguzzi, Erika, PhD, Bresolin, Nereo, MD, Comi, Giacomo P., MD, Corti, Stefania, MD, PhD
Published in Clinical therapeutics (2014)
Published in Clinical therapeutics (2014)
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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)
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Genetic correction of human induced pluripotent stem cells from patients with spinal muscular atrophy
Corti, Stefania, Nizzardo, Monica, Simone, Chiara, Falcone, Marianna, Nardini, Martina, Ronchi, Dario, Donadoni, Chiara, Salani, Sabrina, Riboldi, Giulietta, Magri, Francesca, Menozzi, Giorgia, Bonaglia, Clara, Rizzo, Federica, Bresolin, Nereo, Comi, Giacomo P
Published in Science translational medicine (19.12.2012)
Published in Science translational medicine (19.12.2012)
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Long term natural history data in ambulant boys with Duchenne muscular dystrophy: 36-month changes
Pane, Marika, Mazzone, Elena Stacy, Sivo, Serena, Sormani, Maria Pia, Messina, Sonia, D'Amico, Adele, Carlesi, Adelina, Vita, Gianluca, Fanelli, Lavinia, Berardinelli, Angela, Torrente, Yvan, Lanzillotta, Valentina, Viggiano, Emanuela, D Ambrosio, Paola, Cavallaro, Filippo, Frosini, Silvia, Barp, Andrea, Bonfiglio, Serena, Scalise, Roberta, De Sanctis, Roberto, Rolle, Enrica, Graziano, Alessandra, Magri, Francesca, Palermo, Concetta, Rossi, Francesca, Donati, Maria Alice, Sacchini, Michele, Arnoldi, Maria Teresa, Baranello, Giovanni, Mongini, Tiziana, Pini, Antonella, Battini, Roberta, Pegoraro, Elena, Previtali, Stefano, Bruno, Claudio, Politano, Luisa, Comi, Giacomo P, Bertini, Enrico, Mercuri, Eugenio
Published in PloS one (01.10.2014)
Published in PloS one (01.10.2014)
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Safety and efficacy of olesoxime in patients with type 2 or non-ambulatory type 3 spinal muscular atrophy: a randomised, double-blind, placebo-controlled phase 2 trial
Bertini, Enrico, Prof, Dessaud, Eric, PhD, Mercuri, Eugenio, Prof, Muntoni, Francesco, Prof, Kirschner, Janbernd, Prof, Reid, Carol, PhD, Lusakowska, Anna, MD, Comi, Giacomo P, Prof, Cuisset, Jean-Marie, MD, Abitbol, Jean-Louis, MD, Scherrer, Bruno, PhD, Ducray, Patricia Sanwald, PhD, Buchbjerg, Jeppe, MSc, Vianna, Eduardo, PhD, van der Pol, W Ludo, MD, Vuillerot, Carole, MD, Blaettler, Thomas, MD, Fontoura, Paulo, MD
Published in Lancet neurology (01.07.2017)
Published in Lancet neurology (01.07.2017)
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Journal Article
Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53
Brogna, Claudia, Coratti, Giorgia, Pane, Marika, Ricotti, Valeria, Messina, Sonia, D'Amico, Adele, Bruno, Claudio, Vita, Gianluca, Berardinelli, Angela, Mazzone, Elena, Magri, Francesca, Ricci, Federica, Mongini, Tiziana, Battini, Roberta, Bello, Luca, Pegoraro, Elena, Baranello, Giovanni, Previtali, Stefano C, Politano, Luisa, Comi, Giacomo P, Sansone, Valeria A, Donati, Alice, Bertini, Enrico, Muntoni, Francesco, Goemans, Nathalie, Mercuri, Eugenio
Published in PloS one (25.06.2019)
Published in PloS one (25.06.2019)
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Minimally invasive transplantation of iPSC-derived ALDHhiSSCloVLA4+ neural stem cells effectively improves the phenotype of an amyotrophic lateral sclerosis model
Nizzardo, Monica, Simone, Chiara, Rizzo, Federica, Ruggieri, Margherita, Salani, Sabrina, Riboldi, Giulietta, Faravelli, Irene, Zanetta, Chiara, Bresolin, Nereo, Comi, Giacomo P, Corti, Stefania
Published in Human molecular genetics (15.01.2014)
Published in Human molecular genetics (15.01.2014)
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Role of Adenine Nucleotide Translocator 1 in mtDNA Maintenance
KAUKONEN, J, JUSELLUS, J. K, TIRANTI, V, KYTTÄLÄ, A, ZEVIANI, M, COMI, G. P, KERÄNEN, S, PELTONEN, L, SUOMALAINEN, A
Published in Science (American Association for the Advancement of Science) (04.08.2000)
Published in Science (American Association for the Advancement of Science) (04.08.2000)
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Ongoing therapeutic trials and outcome measures for Duchenne muscular dystrophy
Govoni, Alessandra, Magri, Francesca, Brajkovic, Simona, Zanetta, Chiara, Faravelli, Irene, Corti, Stefania, Bresolin, Nereo, Comi, Giacomo P
Published in Cellular and molecular life sciences : CMLS (01.12.2013)
Published in Cellular and molecular life sciences : CMLS (01.12.2013)
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Widespread balancing selection and pathogen-driven selection at blood group antigen genes
Fumagalli, Matteo, Cagliani, Rachele, Pozzoli, Uberto, Riva, Stefania, Comi, Giacomo P, Menozzi, Giorgia, Bresolin, Nereo, Sironi, Manuela
Published in Genome Research (01.02.2009)
Published in Genome Research (01.02.2009)
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Autosomal Dominant Frontotemporal Lobar Degeneration Due to the C9ORF72 Hexanucleotide Repeat Expansion: Late-Onset Psychotic Clinical Presentation
Galimberti, Daniela, Fenoglio, Chiara, Serpente, Maria, Villa, Chiara, Bonsi, Rossana, Arighi, Andrea, Fumagalli, Giorgio G, Del Bo, Roberto, Bruni, Amalia C, Anfossi, Maria, Clodomiro, Alessandra, Cupidi, Chiara, Nacmias, Benedetta, Sorbi, Sandro, Piaceri, Irene, Bagnoli, Silvia, Bessi, Valentina, Marcone, Alessandra, Cerami, Chiara, Cappa, Stefano F, Filippi, Massimo, Agosta, Federica, Magnani, Giuseppe, Comi, Giancarlo, Franceschi, Massimo, Rainero, Innocenzo, Giordana, Maria Teresa, Rubino, Elisa, Ferrero, Patrizia, Rogaeva, Ekaterina, Xi, Zhengrui, Confaloni, Annamaria, Piscopo, Paola, Bruno, Giuseppe, Talarico, Giuseppina, Cagnin, Annachiara, Clerici, Francesca, Dell’Osso, Bernardo, Comi, Giacomo P, Altamura, A. Carlo, Mariani, Claudio, Scarpini, Elio
Published in Biological psychiatry (1969) (01.09.2013)
Published in Biological psychiatry (1969) (01.09.2013)
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Loss of Glycogen Debranching Enzyme AGL Drives Bladder Tumor Growth via Induction of Hyaluronic Acid Synthesis
Guin, Sunny, Ru, Yuanbin, Agarwal, Neeraj, Lew, Carolyn R, Owens, Charles, Comi, Giacomo P, Theodorescu, Dan
Published in Clinical cancer research (01.03.2016)
Published in Clinical cancer research (01.03.2016)
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Identification of Novel Biomarkers of Spinal Muscular Atrophy and Therapeutic Response by Proteomic and Metabolomic Profiling of Human Biological Fluid Samples
Meneri, Megi, Abati, Elena, Gagliardi, Delia, Faravelli, Irene, Parente, Valeria, Ratti, Antonia, Verde, Federico, Ticozzi, Nicola, Comi, Giacomo P, Ottoboni, Linda, Corti, Stefania
Published in Biomedicines (23.04.2023)
Published in Biomedicines (23.04.2023)
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