Soft cerebellar signs unveil RARS2‐related epilepsy von 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 von 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

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Neural stem cell transplantation can ameliorate the phenotype of a mouse model of spinal muscular atrophy von 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

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Analysis of the KIFAP3 gene in amyotrophic lateral sclerosis: a multicenter survival study von 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

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MFN2-related neuropathies: Clinical features, molecular pathogenesis and therapeutic perspectives von Stuppia, Giulia, Rizzo, Federica, Riboldi, Giulietta, Del Bo, Roberto, Nizzardo, Monica, Simone, Chiara, Comi, Giacomo P, Bresolin, Nereo, Corti, Stefania

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The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis von 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

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Selective mitochondrial depletion, apoptosis resistance, and increased mitophagy in human Charcot-Marie-Tooth 2A motor neurons von 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

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NOTCH2NLC GGC repeats are not expanded in Italian amyotrophic lateral sclerosis patients von Manini, Arianna, Gagliardi, Delia, Meneri, Megi, Antognozzi, Sara, Del Bo, Roberto, Comi, Giacomo Pietro, Corti, Stefania, Ronchi, Dario

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POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions von Fonzo, Alessio Di, Bordoni, Andreina, Crimi, Marco, Sara, Galbiati, Bo, Roberto Del, Bresolin, Nereo, Comi, Giacomo P.

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Neurocognitive Profiles in Duchenne Muscular Dystrophy and Gene Mutation Site von 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

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Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis von 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

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Autosomal Dominant Frontotemporal Lobar Degeneration Due to the C9ORF72 Hexanucleotide Repeat Expansion: Late-Onset Psychotic Clinical Presentation von 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

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Clinical and molecular features of patients with amyotrophic lateral sclerosis and SOD1 mutations: a monocentric study von 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

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Identification of a Primitive Brain–Derived Neural Stem Cell Population Based on Aldehyde Dehydrogenase Activity von Corti, Stefania, Locatelli, Federica, Papadimitriou, Dimitra, Donadoni, Chiara, Salani, Sabrina, Del Bo, Roberto, Strazzer, Sandra, Bresolin, Nereo, Comi, Giacomo P.

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Limb girdle muscular dystrophy due to LAMA2 gene mutations: new mutations expand the clinical spectrum of a still challenging diagnosis von 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

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Polyneuropathy in POEMS syndrome: role of angiogenic factors in the pathogenesis von Scarlato, Marina, Previtali, Stefano Carlo, Carpo, Marinella, Pareyson, Davide, Briani, Chiara, Del Bo, Roberto, Nobile-Orazio, Eduardo, Quattrini, Angelo, Comi, Giacomo Pietro

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Neural stem cells LewisX + CXCR4 + modify disease progression in an amyotrophic lateral sclerosis model von 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.

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Analysis of HTT CAG repeat expansion in Italian patients with amyotrophic lateral sclerosis von Manini, Arianna, Gagliardi, Delia, Meneri, Megi, Antognozzi, Sara, Del Bo, Roberto, Scaglione, Cesa, Comi, Giacomo Pietro, Corti, Stefania, Ronchi, Dario

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C9ORF72 repeat expansion in a large Italian ALS cohort: evidence of a founder effect von 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

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Wild-type bone marrow cells ameliorate the phenotype of SOD1-G93A ALS mice and contribute to CNS, heart and skeletal muscle tissues von Corti, Stefania, Locatelli, Federica, Donadoni, Chiara, Guglieri, Michela, Papadimitriou, Dimitra, Strazzer, Sandra, Del Bo, Roberto, Comi, Giacomo P.

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