Variability in Clinical Phenotype in TARDBP Mutations: Amyotrophic Lateral Sclerosis Case Description and Literature Review

por Lombardi, Michele, Corrado, Lucia, Piola, Beatrice, Comi, Cristoforo, Cantello, Roberto, D’Alfonso, Sandra, Mazzini, Letizia, De Marchi, Fabiola
Publicado 2023

Neuroinflammatory Pathways in the ALS-FTD Continuum: A Focus on Genetic Variants

por De Marchi, Fabiola, Tondo, Giacomo, Corrado, Lucia, Menegon, Federico, Aprile, Davide, Anselmi, Matteo, D’Alfonso, Sandra, Comi, Cristoforo, Mazzini, Letizia
Publicado 2023

Next Generation Sequencing of Pooled Samples: Guideline for Variants’ Filtering

por Anand, Santosh, Mangano, Eleonora, Barizzone, Nadia, Bordoni, Roberta, Sorosina, Melissa, Clarelli, Ferdinando, Corrado, Lucia, Martinelli Boneschi, Filippo, D’Alfonso, Sandra, De Bellis, Gianluca
Publicado 2016

Author Correction: Next Generation Sequencing of Pooled Samples: Guideline for Variants’ Filtering

por Anand, Santosh, Mangano, Eleonora, Barizzone, Nadia, Bordoni, Roberta, Sorosina, Melissa, Clarelli, Ferdinando, Corrado, Lucia, Martinelli Boneschi, Filippo, D’Alfonso, Sandra, De Bellis, Gianluca
Publicado 2020

A Census of Tandemly Repeated Polymorphic Loci in Genic Regions Through the Comparative Integration of Human Genome Assemblies

por Genovese, Loredana M., Geraci, Filippo, Corrado, Lucia, Mangano, Eleonora, D'Aurizio, Romina, Bordoni, Roberta, Severgnini, Marco, Manzini, Giovanni, De Bellis, Gianluca, D'Alfonso, Sandra, Pellegrini, Marco
Publicado 2018

Expanding the genetic spectrum of primary familial brain calcification due to SLC2OA2 mutations: a case series

por Magistrelli, Luca, Croce, Roberta, De Marchi, Fabiola, Basagni, Chiara, Carecchio, Miryam, Nasuelli, Nicola, Cantello, Roberto, Invernizzi, Federica, Garavaglia, Barbara, Comi, Cristoforo, Mazzini, Letizia, D’Alfonso, Sandra, Corrado, Lucia
Publicado 2021

Clinical relevance of single-subject brain metabolism patterns in amyotrophic lateral sclerosis mutation carriers

por Tondo, Giacomo, Mazzini, Letizia, Caminiti, Silvia Paola, Sarnelli, Maria Francesca, Corrado, Lucia, Matheoud, Roberta, D'Alfonso, Sandra, Cantello, Roberto, Sacchetti, Gian Mauro, Perani, Daniela, Comi, Cristoforo, De Marchi, Fabiola
Publicado 2022

Variants in the 5′UTR reduce SHOX expression and contribute to SHOX haploinsufficiency

por Babu, Deepak, Vannelli, Silvia, Fanelli, Antonella, Mellone, Simona, Baffico, Ave Maria, Corrado, Lucia, Essa, Wael Al, Grandone, Anna, Bellone, Simonetta, Monzani, Alice, Vinci, Giulia, De Sanctis, Luisa, Stuppia, Liborio, Prodam, Flavia, Giordano, Mara
Publicado 2020

C9ORF72 Repeat Expansion Affects the Proteome of Primary Skin Fibroblasts in ALS

por Lualdi, Marta, Shafique, Adeena, Pedrini, Edoardo, Pieroni, Luisa, Greco, Viviana, Castagnola, Massimo, Cucina, Giorgia, Corrado, Lucia, Di Pierro, Alice, De Marchi, Fabiola, Camillo, Lara, Colombrita, Claudia, D’Anca, Marianna, Alberio, Tiziana, D’Alfonso, Sandra, Fasano, Mauro
Publicado 2021

Multiple Polymorphisms Affect Expression and Function of the Neuropeptide S Receptor (NPSR1)

por Anedda, Francesca, Zucchelli, Marco, Schepis, Danika, Hellquist, Anna, Corrado, Lucia, D'Alfonso, Sandra, Achour, Adnane, McInerney, Gerald, Bertorello, Alejandro, Lördal, Mikael, Befrits, Ragnar, Björk, Jan, Bresso, Francesca, Törkvist, Leif, Halfvarson, Jonas, Kere, Juha, D'Amato, Mauro
Publicado 2011

Systematic evaluation of genetic mutations in ALS: a population-based study

por Grassano, Maurizio, Calvo, Andrea, Moglia, Cristina, Sbaiz, Luca, Brunetti, Maura, Barberis, Marco, Casale, Federico, Manera, Umberto, Vasta, Rosario, Canosa, Antonio, D’Alfonso, Sandra, Corrado, Lucia, Mazzini, Letizia, Dalgard, Clifton, Karra, Ramita, Chia, Ruth, Traynor, Bryan, Chiò, Adriano
Publicado 2022

GBA variants influence cognitive status in amyotrophic lateral sclerosis

por Canosa, Antonio, Grassano, Maurizio, Moglia, Cristina, Iazzolino, Barbara, Peotta, Laura, Gallone, Salvatore, Brunetti, Maura, Barberis, Marco, Sbaiz, Luca, Palumbo, Francesca, Cabras, Sara, Manera, Umberto, Vasta, Rosario, Traynor, Bryan, Corrado, Lucia, D'Alfonso, Sandra, Mazzini, Letizia, Calvo, Andrea, Chio, Adriano
Publicado 2022

Exploring the phenotype of Italian patients with ALS with intermediate ATXN2 polyQ repeats

por Chio, Adriano, Moglia, Cristina, Canosa, Antonio, Manera, Umberto, Grassano, Maurizio, Vasta, Rosario, Palumbo, Francesca, Gallone, Salvatore, Brunetti, Maura, Barberis, Marco, De Marchi, Fabiola, Dalgard, Clifton, Chia, Ruth, Mora, Gabriele, Iazzolino, Barbara, Peotta, Laura, Traynor, Bryan, Corrado, Lucia, D'Alfonso, Sandra, Mazzini, Letizia, Calvo, Andrea
Publicado 2022

Clinical and Metabolic Signature of UNC13A rs12608932 Variant in Amyotrophic Lateral Sclerosis

por Calvo, Andrea, Canosa, Antonio, Moglia, Cristina, Manera, Umberto, Grassano, Maurizio, Vasta, Rosario, Palumbo, Francesca, Cugnasco, Paolo, Gallone, Salvatore, Brunetti, Maura, De Marchi, Fabiola, Arena, Vincenzo, Pagani, Marco, Dalgard, Clifton, Scholz, Sonja W., Chia, Ruth, Corrado, Lucia, Dalfonso, Sandra, Mazzini, Letizia, Traynor, Bryan J., Chio, Adriano
Publicado 2022

The Length of SNCA Rep1 Microsatellite May Influence Cognitive Evolution in Parkinson’s Disease

por Corrado, Lucia, De Marchi, Fabiola, Tunesi, Sara, Oggioni, Gaia Donata, Carecchio, Miryam, Magistrelli, Luca, Tesei, Silvana, Riboldazzi, Giulio, Di Fonzo, Alessio, Locci, Clarissa, Trezzi, Ilaria, Zangaglia, Roberta, Cereda, Cristina, D’Alfonso, Sandra, Magnani, Corrado, Comi, Giacomo P., Bono, Giorgio, Pacchetti, Claudio, Cantello, Roberto, Goldwurm, Stefano, Comi, Cristoforo
Publicado 2018

Characterization of the p.L145F and p.S135N Mutations in SOD1: Impact on the Metabolism of Fibroblasts Derived from Amyotrophic Lateral Sclerosis Patients

por Perciballi, Elisa, Bovio, Federica, Rosati, Jessica, Arrigoni, Federica, D’Anzi, Angela, Lattante, Serena, Gelati, Maurizio, De Marchi, Fabiola, Lombardi, Ivan, Ruotolo, Giorgia, Forcella, Matilde, Mazzini, Letizia, D’Alfonso, Sandra, Corrado, Lucia, Sabatelli, Mario, Conte, Amelia, De Gioia, Luca, Martino, Sabata, Vescovi, Angelo Luigi, Fusi, Paola, Ferrari, Daniela
Publicado 2022

The multistep hypothesis of ALS revisited: The role of genetic mutations

por Chiò, Adriano, Mazzini, Letizia, D'Alfonso, Sandra, Corrado, Lucia, Canosa, Antonio, Moglia, Cristina, Manera, Umberto, Bersano, Enrica, Brunetti, Maura, Barberis, Marco, Veldink, Jan H., van den Berg, Leonard H., Pearce, Neil, Sproviero, William, McLaughlin, Russell, Vajda, Alice, Hardiman, Orla, Rooney, James, Mora, Gabriele, Calvo, Andrea, Al-Chalabi, Ammar
Publicado 2018

An Investigation of the Role of Common and Rare Variants in a Large Italian Multiplex Family of Multiple Sclerosis Patients

por Barizzone, Nadia, Cagliani, Rachele, Basagni, Chiara, Clarelli, Ferdinando, Mendozzi, Laura, Agliardi, Cristina, Forni, Diego, Tosi, Martina, Mascia, Elisabetta, Favero, Francesco, Corà, Davide, Corrado, Lucia, Sorosina, Melissa, Esposito, Federica, Zuccalà, Miriam, Vecchio, Domizia, Liguori, Maria, Comi, Cristoforo, Comi, Giancarlo, Martinelli, Vittorio, Filippi, Massimo, Leone, Maurizio, Martinelli-Boneschi, Filippo, Caputo, Domenico, Sironi, Manuela, Guerini, Franca Rosa, D’Alfonso, Sandra
Publicado 2021

Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis

por Beecham, Ashley H, Patsopoulos, Nikolaos A, Xifara, Dionysia K, Davis, Mary F, Kemppinen, Anu, Cotsapas, Chris, Shahi, Tejas S, Spencer, Chris, Booth, David, Goris, An, Oturai, Annette, Saarela, Janna, Fontaine, Bertrand, Hemmer, Bernhard, Martin, Claes, Zipp, Frauke, D’alfonso, Sandra, Martinelli-Boneschi, Filippo, Taylor, Bruce, Harbo, Hanne F, Kockum, Ingrid, Hillert, Jan, Olsson, Tomas, Ban, Maria, Oksenberg, Jorge R, Hintzen, Rogier, Barcellos, Lisa F, Agliardi, Cristina, Alfredsson, Lars, Alizadeh, Mehdi, Anderson, Carl, Andrews, Robert, Søndergaard, Helle Bach, Baker, Amie, Band, Gavin, Baranzini, Sergio E, Barizzone, Nadia, Barrett, Jeffrey, Bellenguez, Céline, Bergamaschi, Laura, Bernardinelli, Luisa, Berthele, Achim, Biberacher, Viola, Binder, Thomas M C, Blackburn, Hannah, Bomfim, Izaura L, Brambilla, Paola, Broadley, Simon, Brochet, Bruno, Brundin, Lou, Buck, Dorothea, Butzkueven, Helmut, Caillier, Stacy J, Camu, William, Carpentier, Wassila, Cavalla, Paola, Celius, Elisabeth G, Coman, Irène, Comi, Giancarlo, Corrado, Lucia, Cosemans, Leentje, Cournu-Rebeix, Isabelle, Cree, Bruce A C, Cusi, Daniele, Damotte, Vincent, Defer, Gilles, Delgado, Silvia R, Deloukas, Panos, di Sapio, Alessia, Dilthey, Alexander T, Donnelly, Peter, Dubois, Bénédicte, Duddy, Martin, Edkins, Sarah, Elovaara, Irina, Esposito, Federica, Evangelou, Nikos, Fiddes, Barnaby, Field, Judith, Franke, Andre, Freeman, Colin, Frohlich, Irene Y, Galimberti, Daniela, Gieger, Christian, Gourraud, Pierre-Antoine, Graetz, Christiane, Graham, Andrew, Grummel, Verena, Guaschino, Clara, Hadjixenofontos, Athena, Hakonarson, Hakon, Halfpenny, Christopher, Hall, Gillian, Hall, Per, Hamsten, Anders, Harley, James, Harrower, Timothy, Hawkins, Clive, Hellenthal, Garrett, Hillier, Charles, Hobart, Jeremy, Hoshi, Muni, Hunt, Sarah E, Jagodic, Maja, Jelčić, Ilijas, Jochim, Angela, Kendall, Brian, Kermode, Allan, Kilpatrick, Trevor, Koivisto, Keijo, Konidari, Ioanna, Korn, Thomas, Kronsbein, Helena, Langford, Cordelia, Larsson, Malin, Lathrop, Mark, Lebrun-Frenay, Christine, Lechner-Scott, Jeannette, Lee, Michelle H, Leone, Maurizio A, Leppä, Virpi, Liberatore, Giuseppe, Lie, Benedicte A, Lill, Christina M, Lindén, Magdalena, Link, Jenny, Luessi, Felix, Lycke, Jan, Macciardi, Fabio, Männistö, Satu, Manrique, Clara P, Martin, Roland, Martinelli, Vittorio, Mason, Deborah, Mazibrada, Gordon, McCabe, Cristin, Mero, Inger-Lise, Mescheriakova, Julia, Moutsianas, Loukas, Myhr, Kjell-Morten, Nagels, Guy, Nicholas, Richard, Nilsson, Petra, Piehl, Fredrik, Pirinen, Matti, Price, Siân E, Quach, Hong, Reunanen, Mauri, Robberecht, Wim, Robertson, Neil P, Rodegher, Mariaemma, Rog, David, Salvetti, Marco, Schnetz-Boutaud, Nathalie C, Sellebjerg, Finn, Selter, Rebecca C, Schaefer, Catherine, Shaunak, Sandip, Shen, Ling, Shields, Simon, Siffrin, Volker, Slee, Mark, Sorensen, Per Soelberg, Sorosina, Melissa, Sospedra, Mireia, Spurkland, Anne, Strange, Amy, Sundqvist, Emilie, Thijs, Vincent, Thorpe, John, Ticca, Anna, Tienari, Pentti, van Duijn, Cornelia, Visser, Elizabeth M, Vucic, Steve, Westerlind, Helga, Wiley, James S, Wilkins, Alastair, Wilson, James F, Winkelmann, Juliane, Zajicek, John, Zindler, Eva, Haines, Jonathan L, Pericak-Vance, Margaret A, Ivinson, Adrian J, Stewart, Graeme, Hafler, David, Hauser, Stephen L, Compston, Alastair, McVean, Gil, De Jager, Philip, Sawcer, Stephen, McCauley, Jacob L
Publicado 2013

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis

por Johnson, Janel O., Chia, Ruth, Miller, Danny E., Li, Rachel, Kumaran, Ravindran, Abramzon, Yevgeniya, Alahmady, Nada, Renton, Alan E., Topp, Simon D., Gibbs, J. Raphael, Cookson, Mark R., Sabir, Marya S., Dalgard, Clifton L., Troakes, Claire, Jones, Ashley R., Shatunov, Aleksey, Iacoangeli, Alfredo, Al Khleifat, Ahmad, Ticozzi, Nicola, Silani, Vincenzo, Gellera, Cinzia, Blair, Ian P., Dobson-Stone, Carol, Kwok, John B., Bonkowski, Emily S., Palvadeau, Robin, Tienari, Pentti J., Morrison, Karen E., Shaw, Pamela J., Al-Chalabi, Ammar, Brown, Robert H., Calvo, Andrea, Mora, Gabriele, Al-Saif, Hind, Gotkine, Marc, Leigh, Fawn, Chang, Irene J., Perlman, Seth J., Glass, Ian, Scott, Anna I., Shaw, Christopher E., Basak, A. Nazli, Landers, John E., Chiò, Adriano, Crawford, Thomas O., Smith, Bradley N., Traynor, Bryan J., Smith, Bradley N., Ticozzi, Nicola, Fallini, Claudia, Gkazi, Athina Soragia, Topp, Simon D., Scotter, Emma L., Kenna, Kevin P., Keagle, Pamela, Tiloca, Cinzia, Vance, Caroline, Troakes, Claire, Colombrita, Claudia, King, Andrew, Pensato, Viviana, Castellotti, Barbara, Baas, Frank, ten Asbroek, Anneloor L. M. A., McKenna-Yasek, Diane, McLaughlin, Russell L., Polak, Meraida, Asress, Seneshaw, Esteban-Pérez, Jesús, Stevic, Zorica, D’Alfonso, Sandra, Mazzini, Letizia, Comi, Giacomo P., Del Bo, Roberto, Ceroni, Mauro, Gagliardi, Stella, Querin, Giorgia, Bertolin, Cinzia, van Rheenen, Wouter, Rademakers, Rosa, van Blitterswijk, Marka, Lauria, Giuseppe, Duga, Stefano, Corti, Stefania, Cereda, Cristina, Corrado, Lucia, Sorarù, Gianni, Williams, Kelly L., Nicholson, Garth A., Blair, Ian P., Leblond-Manry, Claire, Rouleau, Guy A., Hardiman, Orla, Morrison, Karen E., Veldink, Jan H., van den Berg, Leonard H., Al-Chalabi, Ammar, Pall, Hardev, Shaw, Pamela J., Turner, Martin R., Talbot, Kevin, Taroni, Franco, García-Redondo, Alberto, Wu, Zheyang, Glass, Jonathan D., Gellera, Cinzia, Ratti, Antonia, Brown, Robert H., Silani, Vincenzo, Shaw, Christopher E., Landers, John E., Dalgard, Clifton L., Adeleye, Adelani, Soltis, Anthony R., Alba, Camille, Viollet, Coralie, Bacikova, Dagmar, Hupalo, Daniel N., Sukumar, Gauthaman, Pollard, Harvey B., Wilkerson, Matthew D., Martinez, Elisa McGrath, Abramzon, Yevgeniya, Ahmed, Sarah, Arepalli, Sampath, Baloh, Robert H., Bowser, Robert, Brady, Christopher B., Brice, Alexis, Broach, James, Campbell, Roy H., Camu, William, Chia, Ruth, Cooper-Knock, John, Ding, Jinhui, Drepper, Carsten, Drory, Vivian E., Dunckley, Travis L., Eicher, John D., England, Bryce K., Faghri, Faraz, Feldman, Eva, Floeter, Mary Kay, Fratta, Pietro, Geiger, Joshua T., Gerhard, Glenn, Gibbs, J. Raphael, Gibson, Summer B., Glass, Jonathan D., Hardy, John, Harms, Matthew B., Heiman-Patterson, Terry D., Hernandez, Dena G., Jansson, Lilja, Kirby, Janine, Kowall, Neil W., Laaksovirta, Hannu, Landeck, Natalie, Landi, Francesco, Le Ber, Isabelle, Lumbroso, Serge, MacGowan, Daniel J. L., Maragakis, Nicholas J., Mora, Gabriele, Mouzat, Kevin, Murphy, Natalie A., Myllykangas, Liisa, Nalls, Mike A., Orrell, Richard W., Ostrow, Lyle W., Pamphlett, Roger, Pickering-Brown, Stuart, Pioro, Erik P., Pletnikova, Olga, Pliner, Hannah A., Pulst, Stefan M., Ravits, John M., Renton, Alan E., Rivera, Alberto, Robberecht, Wim, Rogaeva, Ekaterina, Rollinson, Sara, Rothstein, Jeffrey D., Scholz, Sonja W., Sendtner, Michael, Shaw, Pamela J., Sidle, Katie C., Simmons, Zachary, Singleton, Andrew B., Smith, Nathan, Stone, David J., Tienari, Pentti J., Troncoso, Juan C., Valori, Miko, Van Damme, Philip, Van Deerlin, Vivianna M., Van Den Bosch, Ludo, Zinman, Lorne, Landers, John E., Chiò, Adriano, Traynor, Bryan J., Angelocola, Stefania M., Ausiello, Francesco P., Barberis, Marco, Bartolomei, Ilaria, Battistini, Stefania, Bersano, Enrica, Bisogni, Giulia, Borghero, Giuseppe, Brunetti, Maura, Cabona, Corrado, Calvo, Andrea, Canale, Fabrizio, Canosa, Antonio, Cantisani, Teresa A., Capasso, Margherita, Caponnetto, Claudia, Cardinali, Patrizio, Carrera, Paola, Casale, Federico, Chiò, Adriano, Colletti, Tiziana, Conforti, Francesca L., Conte, Amelia, Conti, Elisa, Corbo, Massimo, Cuccu, Stefania, Dalla Bella, Eleonora, D’Errico, Eustachio, DeMarco, Giovanni, Dubbioso, Raffaele, Ferrarese, Carlo, Ferraro, Pilar M., Filippi, Massimo, Fini, Nicola, Floris, Gianluca, Fuda, Giuseppe, Gallone, Salvatore, Gianferrari, Giulia, Giannini, Fabio, Grassano, Maurizio, Greco, Lucia, Iazzolino, Barbara, Introna, Alessandro, La Bella, Vincenzo, Lattante, Serena, Lauria, Giuseppe, Liguori, Rocco, Logroscino, Giancarlo, Logullo, Francesco O., Lunetta, Christian, Mandich, Paola, Mandrioli, Jessica, Manera, Umberto, Manganelli, Fiore, Marangi, Giuseppe, Marinou, Kalliopi, Marrosu, Maria Giovanna, Martinelli, Ilaria, Messina, Sonia, Moglia, Cristina, Mora, Gabriele, Mosca, Lorena, Murru, Maria R., Origone, Paola, Passaniti, Carla, Petrelli, Cristina, Petrucci, Antonio, Pozzi, Susanna, Pugliatti, Maura, Quattrini, Angelo, Ricci, Claudia, Riolo, Giulia, Riva, Nilo, Russo, Massimo, Sabatelli, Mario, Salamone, Paolina, Salivetto, Marco, Salvi, Fabrizio, Santarelli, Marialuisa, Sbaiz, Luca, Sideri, Riccardo, Simone, Isabella, Simonini, Cecilia, Spataro, Rossella, Tanel, Raffaella, Tedeschi, Gioacchino, Ticca, Anna, Torriello, Antonella, Tranquilli, Stefania, Tremolizzo, Lucio, Trojsi, Francesca, Vasta, Rosario, Vacchiano, Veria, Vita, Giuseppe, Volanti, Paolo, Zollino, Marcella, Zucchi, Elisabetta
Publicado 2021