Search Results - "Bó, Roberto"

Species richness and functional groups of angiosperms from the Paraná River Delta region (Argentina) by Madanes, Nora, Quintana, Rubén Darío, Kandus, Patricia, Bó, Roberto Fabián

“…We provide a checklist of angiosperms collected in the Paraná River Delta Region during the 1990s and early 2000s. Plants were taxonomically identified and…”
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Soft cerebellar signs unveil RARS2‐related epilepsy by Yahya, Vidal, Dilena, Robertino, Del Bo, Roberto, Magni, Manuela, Biella, Fabio, Salani, Sabrina, Fortunato, Francesco, Scola, Elisa, Di Fonzo, Alessio, Monfrini, Edoardo

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Clinical and genetic features of a cohort of patients with MFN2-related neuropathy by 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

“…Charcot–Marie–Tooth disease type 2A (CMT2A) is a rare inherited axonal neuropathy caused by mutations in MFN2 gene, which encodes Mitofusin 2, a transmembrane…”
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Selective mitochondrial depletion, apoptosis resistance, and increased mitophagy in human Charcot-Marie-Tooth 2A motor neurons by 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

“…Charcot-Marie-Tooth 2A (CMT2A) is an inherited peripheral neuropathy caused by mutations in MFN2, which encodes a mitochondrial membrane protein involved in…”
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Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up by Magri, Francesca, Govoni, Alessandra, D’Angelo, Maria Grazia, Del Bo, Roberto, Ghezzi, Serena, Sandra, Gandossini, Turconi, Anna Carla, Sciacco, Monica, Ciscato, Patrizia, Bordoni, Andreina, Tedeschi, Silvana, Fortunato, Francesco, Lucchini, Valeria, Bonato, Sara, Lamperti, Costanza, Coviello, Domenico, Torrente, Yvan, Corti, Stefania, Moggio, Maurizio, Bresolin, Nereo, Comi, Giacomo Pietro

“…Duchenne and Becker muscular dystrophy (DMD and BMD, respectively) are allelic disorders with different clinical presentations and severity determined by…”
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Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis by 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

“…Amyotrophic lateral sclerosis (ALS) is a devastating adult-onset neurodegenerative disorder with a poor prognosis and a median survival of 3 years. However, a…”
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Neural stem cell transplantation can ameliorate the phenotype of a mouse model of spinal muscular atrophy by 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

“…Spinal muscular atrophy (SMA), a motor neuron disease (MND) and one of the most common genetic causes of infant mortality, currently has no cure. Patients with…”
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Presencia de Holochilus chacarius Thomas, 1906 (Mammalia, Rodentia, Sigmodontinae) en el Delta Medio del río Paraná, Entre Ríos, Argentina by Courtalón, Paula, Lo Coco, Gastón, Bó, Roberto

“…Se describe la presencia de Holochilus chacarius en la Zona de Islas del Departamento Victoria, ubicada en el Delta Medio del río Paraná (Entre Ríos,…”
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Limb girdle muscular dystrophy due to LAMA2 gene mutations: new mutations expand the clinical spectrum of a still challenging diagnosis by 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

“…Mutations in LAMA2 gene, encoding merosin, are generally responsible of a severe congenital-onset muscular dystrophy (CMD type 1A) characterized by severe…”
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MFN2-related neuropathies: Clinical features, molecular pathogenesis and therapeutic perspectives by Stuppia, Giulia, Rizzo, Federica, Riboldi, Giulietta, Del Bo, Roberto, Nizzardo, Monica, Simone, Chiara, Comi, Giacomo P, Bresolin, Nereo, Corti, Stefania

“…Abstract Mitofusin 2 (MFN2) is a GTPase dynamin-like protein of the outer mitochondrial membrane, encoded in the nuclear genome by the MFN2 gene located on the…”
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Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients by Magri, Francesca, Bo, Roberto Del, D’Angelo, Maria Grazia, Sciacco, Monica, Gandossini, Sandra, Govoni, Alessandra, Napoli, Laura, Ciscato, Patrizia, Fortunato, Francesco, Brighina, Erika, Bonato, Sara, Bordoni, Andreina, Lucchini, Valeria, Corti, Stefania, Moggio, Maurizio, Bresolin, Nereo, Comi, Giacomo Pietro

“…Abstract Limb-girdle muscular dystrophy (LGMD) 2L, caused by mutations in the anoctamin 5 (ANO5) gene, is the third most common LGMD in Northern and Central…”
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The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis by 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

“…ABSTRACT Introduction: Limb girdle muscular dystrophies (LGMDs) are characterized by high molecular heterogeneity, clinical overlap, and a paucity of specific…”
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NOTCH2NLC GGC repeats are not expanded in Italian amyotrophic lateral sclerosis patients by Manini, Arianna, Gagliardi, Delia, Meneri, Megi, Antognozzi, Sara, Del Bo, Roberto, Comi, Giacomo Pietro, Corti, Stefania, Ronchi, Dario

“…Repeat expansions in genes other than C9orf72 and ATXN2 have been recently associated with Amyotrophic Lateral Sclerosis (ALS). Indeed, an abnormal number of…”
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Analysis of the KIFAP3 gene in amyotrophic lateral sclerosis: a multicenter survival study by 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

“…Abstract Sporadic amyotrophic lateral sclerosis is a multifactorial disease of environmental and genetic origin. In a previous large multicenter genome wide…”
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Molecular analysis of SMARD1 patient-derived cells demonstrates that nonsense-mediated mRNA decay is impaired by 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

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Neurocognitive Profiles in Duchenne Muscular Dystrophy and Gene Mutation Site by 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

“…Abstract The presence of nonprogressive cognitive impairment is recognized as a common feature in a substantial proportion of patients with Duchenne muscular…”
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Autosomal Dominant Frontotemporal Lobar Degeneration Due to the C9ORF72 Hexanucleotide Repeat Expansion: Late-Onset Psychotic Clinical Presentation by 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

“…Background A hexanucleotide repeat expansion in the first intron of C9ORF72 has been shown to be responsible for a high number of familial cases of amyotrophic…”
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Vascular endothelial growth factor gene variability is associated with increased risk for AD by Del Bo, Roberto, Scarlato, Marina, Ghezzi, Serena, Martinelli Boneschi, Filippo, Fenoglio, Chiara, Galbiati, Sara, Virgilio, Roberta, Galimberti, Daniela, Galimberti, Gloria, Crimi, Marco, Ferrarese, Carlo, Scarpini, Elio, Bresolin, Nereo, Comi, Giacomo P.

“…Converging evidence points to a pivotal role of vascular endothelial growth factor (VEGF) in neuronal protection and a lack of its activity in…”
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Clinical and molecular features of patients with amyotrophic lateral sclerosis and SOD1 mutations: a monocentric study by 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

“…was the first gene associated with both familial and sporadic forms of amyotrophic lateral sclerosis (ALS) and is the second most mutated gene in Caucasian ALS…”
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POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions by Fonzo, Alessio Di, Bordoni, Andreina, Crimi, Marco, Sara, Galbiati, Bo, Roberto Del, Bresolin, Nereo, Comi, Giacomo P.

“…The accumulation of multiple mitochondrial DNA (mtDNA) deletions in stable tissues is a distinctive feature of several autosomal disorders, characterized by…”
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