Soft cerebellar signs unveil RARS2‐related epilepsy
Yahya, Vidal, Dilena, Robertino, Del Bo, Roberto, Magni, Manuela, Biella, Fabio, Salani, Sabrina, Fortunato, Francesco, Scola, Elisa, Di Fonzo, Alessio, Monfrini, Edoardo
Published in Epileptic disorders (01.08.2024)
Published in Epileptic disorders (01.08.2024)
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Journal Article
Clinical and genetic features of a cohort of patients with MFN2-related neuropathy
Abati, Elena, Manini, Arianna, Velardo, Daniele, Del Bo, Roberto, Napoli, Laura, Rizzo, Federica, Moggio, Maurizio, Bresolin, Nereo, Bellone, Emilia, Bassi, Maria Teresa, D’Angelo, Maria Grazia, Comi, Giacomo Pietro, Corti, Stefania
Published in Scientific reports (13.04.2022)
Published in Scientific reports (13.04.2022)
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Journal Article
Neural stem cell transplantation can ameliorate the phenotype of a mouse model of spinal muscular atrophy
Corti, Stefania, Nizzardo, Monica, Nardini, Martina, Donadoni, Chiara, Salani, Sabrina, Ronchi, Dario, Saladino, Francesca, Bordoni, Andreina, Fortunato, Francesco, Del Bo, Roberto, Papadimitriou, Dimitra, Locatelli, Federica, Menozzi, Giorgia, Strazzer, Sandra, Bresolin, Nereo, Comi, Giacomo P
Published in The Journal of clinical investigation (01.10.2008)
Published in The Journal of clinical investigation (01.10.2008)
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Journal Article
Analysis of the KIFAP3 gene in amyotrophic lateral sclerosis: a multicenter survival study
van Doormaal, Perry T.C, Ticozzi, Nicola, Gellera, Cinzia, Ratti, Antonia, Taroni, Franco, Chiò, Adriano, Calvo, Andrea, Mora, Gabriele, Restagno, Gabriella, Traynor, Bryan J, Birve, Anna, Lemmens, Robin, van Es, Michael A, Saris, Christiaan G.J, Blauw, Hylke M, van Vught, Paul W.J, Groen, Ewout J.N, Corrado, Lucia, Mazzini, Letizia, Del Bo, Roberto, Corti, Stefania, Waibel, Stefan, Meyer, Thomas, Ludolph, Albert C, Goris, An, van Damme, Philip, Robberecht, Wim, Shatunov, Aleksey, Fogh, Isabella, Andersen, Peter M, D'Alfonso, Sandra, Hardiman, Orla, Cronin, Simon, Rujescu, Dan, Al-Chalabi, Ammar, Landers, John E, Silani, Vincenzo, van den Berg, Leonard H, Veldink, Jan H
Published in Neurobiology of aging (01.10.2014)
Published in Neurobiology of aging (01.10.2014)
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Journal Article
POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions
Fonzo, Alessio Di, Bordoni, Andreina, Crimi, Marco, Sara, Galbiati, Bo, Roberto Del, Bresolin, Nereo, Comi, Giacomo P.
Published in Human mutation (01.12.2003)
Published in Human mutation (01.12.2003)
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Journal Article
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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Journal Article
The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis
Magri, Francesca, Nigro, Vincenzo, Angelini, Corrado, Mongini, Tiziana, Mora, Marina, Moroni, Isabella, Toscano, Antonio, D'angelo, Maria Grazia, Tomelleri, Giuliano, Siciliano, Gabriele, Ricci, Giulia, Bruno, Claudio, Corti, Stefania, Musumeci, Olimpia, Tasca, Giorgio, Ricci, Enzo, Monforte, Mauro, Sciacco, Monica, Fiorillo, Chiara, Gandossini, Sandra, Minetti, Carlo, Morandi, Lucia, Savarese, Marco, Fruscio, Giuseppina Di, Semplicini, Claudio, Pegoraro, Elena, Govoni, Alessandra, Brusa, Roberta, Del Bo, Roberto, Ronchi, Dario, Moggio, Maurizio, Bresolin, Nereo, Comi, Giacomo Pietro
Published in Muscle & nerve (01.01.2017)
Published in Muscle & nerve (01.01.2017)
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Journal Article
Selective mitochondrial depletion, apoptosis resistance, and increased mitophagy in human Charcot-Marie-Tooth 2A motor neurons
Rizzo, Federica, Ronchi, Dario, Salani, Sabrina, Nizzardo, Monica, Fortunato, Francesco, Bordoni, Andreina, Stuppia, Giulia, Del Bo, Roberto, Piga, Daniela, Fato, Romana, Bresolin, Nereo, Comi, Giacomo P, Corti, Stefania
Published in Human molecular genetics (01.10.2016)
Published in Human molecular genetics (01.10.2016)
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Journal Article
NOTCH2NLC GGC repeats are not expanded in Italian amyotrophic lateral sclerosis patients
Manini, Arianna, Gagliardi, Delia, Meneri, Megi, Antognozzi, Sara, Del Bo, Roberto, Comi, Giacomo Pietro, Corti, Stefania, Ronchi, Dario
Published in Scientific reports (23.02.2023)
Published in Scientific reports (23.02.2023)
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Journal Article
Neurocognitive Profiles in Duchenne Muscular Dystrophy and Gene Mutation Site
D’Angelo, Maria Grazia, MD, PhD, Lorusso, Maria Luisa, PhD, Civati, Federica, MA, Comi, Giacomo Pietro, MD, PhD, Magri, Francesca, MD, Del Bo, Roberto, PhD, Guglieri, Michela, MD, Molteni, Massimo, MD, Turconi, Anna Carla, MD, Bresolin, Nereo, MD
Published in Pediatric neurology (01.11.2011)
Published in Pediatric neurology (01.11.2011)
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Journal Article
Molecular analysis of SMARD1 patient-derived cells demonstrates that nonsense-mediated mRNA decay is impaired
Taiana, Michela, Govoni, Alessandra, Salani, Sabrina, Kleinschmidt, Nicole, Galli, Noemi, Saladini, Matteo, Ghezzi, Stefano Bruno, Melzi, Valentina, Bersani, Margherita, Del Bo, Roberto, Muehlemann, Oliver, Bertini, Enrico, Sansone, Valeria, Albamonte, Emilio, Messina, Sonia, Mari, Francesco, Cesaroni, Elisabetta, Porfiri, Liliana, Tiziano, Francesco Danilo, Vita, Gian Luca, Sframeli, Maria, Bonanno, Carmen, Bresolin, Nereo, Comi, Giacomo, Corti, Stefania, Nizzardo, Monica
Published in Journal of neurology, neurosurgery and psychiatry (01.08.2022)
Published in Journal of neurology, neurosurgery and psychiatry (01.08.2022)
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Journal Article
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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Journal Article
Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis
Fogh, Isabella, Lin, Kuang, Tiloca, Cinzia, Rooney, James, Gellera, Cinzia, Diekstra, Frank P, Ratti, Antonia, Shatunov, Aleksey, van Es, Michael A, Proitsi, Petroula, Jones, Ashley, Sproviero, William, Chiò, Adriano, McLaughlin, Russell Lewis, Sorarù, Gianni, Corrado, Lucia, Stahl, Daniel, Del Bo, Roberto, Cereda, Cristina, Castellotti, Barbara, Glass, Jonathan D, Newhouse, Steven, Dobson, Richard, Smith, Bradley N, Topp, Simon, van Rheenen, Wouter, Meininger, Vincent, Melki, Judith, Morrison, Karen E, Shaw, Pamela J, Leigh, P Nigel, Andersen, Peter M, Comi, Giacomo P, Ticozzi, Nicola, Mazzini, Letizia, D'Alfonso, Sandra, Traynor, Bryan J, Van Damme, Philip, Robberecht, Wim, Brown, Robert H, Landers, John E, Hardiman, Orla, Lewis, Cathryn M, van den Berg, Leonard H, Shaw, Christopher E, Veldink, Jan H, Silani, Vincenzo, Al-Chalabi, Ammar, Powell, John
Published in JAMA neurology (01.07.2016)
Published in JAMA neurology (01.07.2016)
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Journal Article
Clinical and molecular features of patients with amyotrophic lateral sclerosis and SOD1 mutations: a monocentric study
Gagliardi, Delia, Ripellino, Paolo, Meneri, Megi, Del Bo, Roberto, Antognozzi, Sara, Comi, Giacomo Pietro, Gobbi, Claudio, Ratti, Antonia, Ticozzi, Nicola, Silani, Vincenzo, Ronchi, Dario, Corti, Stefania
Published in Frontiers in neurology (17.05.2023)
Published in Frontiers in neurology (17.05.2023)
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Journal Article
Identification of a Primitive Brain–Derived Neural Stem Cell Population Based on Aldehyde Dehydrogenase Activity
Corti, Stefania, Locatelli, Federica, Papadimitriou, Dimitra, Donadoni, Chiara, Salani, Sabrina, Del Bo, Roberto, Strazzer, Sandra, Bresolin, Nereo, Comi, Giacomo P.
Published in Stem cells (Dayton, Ohio) (01.04.2006)
Published in Stem cells (Dayton, Ohio) (01.04.2006)
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Journal Article
Neural stem cells LewisX + CXCR4 + modify disease progression in an amyotrophic lateral sclerosis model
Corti, Stefania, Locatelli, Federica, Papadimitriou, Dimitra, Del Bo, Roberto, Nizzardo, Monica, Nardini, Martina, Donadoni, Chiara, Salani, Sabrina, Fortunato, Francesco, Strazzer, Sandra, Bresolin, Nereo, Comi, Giacomo P.
Published in Brain (London, England : 1878) (01.05.2007)
Published in Brain (London, England : 1878) (01.05.2007)
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Journal Article
Polyneuropathy in POEMS syndrome: role of angiogenic factors in the pathogenesis
Scarlato, Marina, Previtali, Stefano Carlo, Carpo, Marinella, Pareyson, Davide, Briani, Chiara, Del Bo, Roberto, Nobile-Orazio, Eduardo, Quattrini, Angelo, Comi, Giacomo Pietro
Published in Brain (London, England : 1878) (01.08.2005)
Published in Brain (London, England : 1878) (01.08.2005)
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Journal Article
Limb girdle muscular dystrophy due to LAMA2 gene mutations: new mutations expand the clinical spectrum of a still challenging diagnosis
Magri, Francesca, Brusa, Roberta, Bello, Luca, Peverelli, Lorenzo, Del Bo, Roberto, Govoni, Alessandra, Cinnante, Claudia, Colombo, Irene, Fortunato, Francesco, Tironi, Roberto, Corti, Stefania, Grimoldi, Nadia, Sciacco, Monica, Bresolin, Nereo, Pegoraro, Elena, Moggio, Maurizio, Comi, Giacomo Pietro
Published in Acta myologica (01.06.2020)
Published in Acta myologica (01.06.2020)
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Journal Article
C9ORF72 repeat expansion in a large Italian ALS cohort: evidence of a founder effect
Ratti, Antonia, Corrado, Lucia, Castellotti, Barbara, Del Bo, Roberto, Fogh, Isabella, Cereda, Cristina, Tiloca, Cinzia, D'Ascenzo, Carla, Bagarotti, Alessandra, Pensato, Viviana, Ranieri, Michela, Gagliardi, Stella, Calini, Daniela, Mazzini, Letizia, Taroni, Franco, Corti, Stefania, Ceroni, Mauro, Oggioni, Gaia D, Lin, Kuang, Powell, John F, Sorarù, Gianni, Ticozzi, Nicola, Comi, Giacomo P, D'Alfonso, Sandra, Gellera, Cinzia, Silani, Vincenzo
Published in Neurobiology of aging (01.10.2012)
Published in Neurobiology of aging (01.10.2012)
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Journal Article
Analysis of HTT CAG repeat expansion in Italian patients with amyotrophic lateral sclerosis
Manini, Arianna, Gagliardi, Delia, Meneri, Megi, Antognozzi, Sara, Del Bo, Roberto, Scaglione, Cesa, Comi, Giacomo Pietro, Corti, Stefania, Ronchi, Dario
Published in Annals of clinical and translational neurology (01.11.2022)
Published in Annals of clinical and translational neurology (01.11.2022)
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