Biomarkers for C9orf7-ALS in Symptomatic and Pre-symptomatic Patients: State-of-the-art in the New Era of Clinical Trials

por Querin, Giorgia, Biferi, Maria Grazia, Pradat, Pierre-Francois
Publicado 2022

The Identification of Novel Biomarkers Is Required to Improve Adult SMA Patient Stratification, Diagnosis and Treatment

por Smeriglio, Piera, Langard, Paul, Querin, Giorgia, Biferi, Maria Grazia
Publicado 2020

Biomarkers of Spinal and Bulbar Muscle Atrophy (SBMA): A Comprehensive Review

por Querin, Giorgia, Bede, Peter, Marchand-Pauvert, Veronique, Pradat, Pierre-Francois
Publicado 2018

Beyond the Traditional Clinical Trials for Amyotrophic Lateral Sclerosis and The Future Impact of Gene Therapy

por Cappella, Marisa, Pradat, Pierre-François, Querin, Giorgia, Biferi, Maria Grazia
Publicado 2021

Prevalence of metabolic syndrome and non-alcoholic fatty liver disease in a cohort of italian patients with spinal-bulbar muscular atrophy

por FRANCINI-PESENTI, FRANCESCO, QUERIN, GIORGIA, MARTINI, CRISTINA, MARESO, SARA, SACERDOTI, DAVID
Publicado 2018

Spinal Cord Imaging in Amyotrophic Lateral Sclerosis: Historical Concepts—Novel Techniques

por El Mendili, Mohamed Mounir, Querin, Giorgia, Bede, Peter, Pradat, Pierre-François
Publicado 2019

Machine Learning in Amyotrophic Lateral Sclerosis: Achievements, Pitfalls, and Future Directions

por Grollemund, Vincent, Pradat, Pierre-François, Querin, Giorgia, Delbot, François, Le Chat, Gaétan, Pradat-Peyre, Jean-François, Bede, Peter
Publicado 2019

Impact on children of a parent with ALS: a case-control study

por Calvo, Vincenzo, Bianco, Francesca, Benelli, Enrico, Sambin, Marco, Monsurrò, Maria R., Femiano, Cinzia, Querin, Giorgia, Sorarù, Gianni, Palmieri, Arianna
Publicado 2015

The value of serum creatinine as biomarker of disease progression in spinal and bulbar muscular atrophy (SBMA)

por Blasi, Lorenzo, Sabbatini, Daniele, Fortuna, Andrea, Querin, Giorgia, Martinelli, Ilaria, Vianello, Sara, Bertolin, Cinzia, Pareyson, Davide, Pennuto, Maria, Pegoraro, Elena, Bello, Luca, Sorarù, Gianni
Publicado 2023

The French national protocol for Kennedy’s disease (SBMA): consensus diagnostic and management recommendations

por Pradat, Pierre-François, Bernard, Emilien, Corcia, Philippe, Couratier, Philippe, Jublanc, Christel, Querin, Giorgia, Morélot Panzini, Capucine, Salachas, François, Vial, Christophe, Wahbi, Karim, Bede, Peter, Desnuelle, Claude
Publicado 2020

HINT1 neuropathy: Expanding the genotype and phenotype spectrum

por Morel, Victor, Campana‐Salort, Emmanuelle, Boyer, Amandine, Esselin, Florence, Walther‐Louvier, Ulrike, Querin, Giorgia, Latour, Philippe, Lia, Anne‐Sophie, Magdelaine, Corinne, Beze‐Beyrie, Pierre, Behin, Anthony, Delague, Valérie, Levy, Nicolas, Stojkovic, Tanya, Attarian, Shahram, Bonello‐Palot, Nathalie
Publicado 2022

Muscle and not neuronal biomarkers correlate with severity in spinal and bulbar muscular atrophy

por Lombardi, Vittoria, Querin, Giorgia, Ziff, Oliver J., Zampedri, Luca, Martinelli, Ilaria, Heller, Carolin, Foiani, Martha, Bertolin, Cinzia, Lu, Ching-Hua, Malik, Bilal, Allen, Kezia, Rinaldi, Carlo, Zetterberg, Henrik, Heslegrave, Amanda, Greensmith, Linda, Hanna, Michael, Soraru, Gianni, Malaspina, Andrea, Fratta, Pietro
Publicado 2019

Non-neural phenotype of spinal and bulbar muscular atrophy: results from a large cohort of Italian patients

por Querin, Giorgia, Bertolin, Cinzia, Da Re, Elisa, Volpe, Marco, Zara, Gabriella, Pegoraro, Elena, Caretta, Nicola, Foresta, Carlo, Silvano, Maria, Corrado, Domenico, Iafrate, Massimo, Angelini, Lorenzo, Sartori, Leonardo, Pennuto, Maria, Gaiani, Alessandra, Bello, Luca, Semplicini, Claudio, Pareyson, Davide, Silani, Vincenzo, Ermani, Mario, Ferlin, Alberto, Sorarù, Gianni
Publicado 2016

Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy

por Fernández-Eulate, Gorka, Theuriet, Julian, Record, Christopher J., Querin, Giorgia, Masingue, Marion, Leonard-Louis, Sarah, Behin, Anthony, Le Forestier, Nadine, Pegat, Antoine, Michaud, Maud, Chanson, Jean-Baptiste, Nadaj-Pakleza, Aleksandra, Tard, Celine, Bedat-Millet, Anne-Laure, Sole, Guilhem, Spinazzi, Marco, Salort-Campana, Emmanuelle, Echaniz-Laguna, Andoni, Poinsignon, Vianney, Latour, Philippe, Reilly, Mary M., Bouhour, Francoise, Stojkovic, Tanya
Publicado 2023

The spinal and cerebral profile of adult spinal-muscular atrophy: A multimodal imaging study

por Querin, Giorgia, El Mendili, Mohamed-Mounir, Lenglet, Timothée, Behin, Anthony, Stojkovic, Tanya, Salachas, François, Devos, David, Le Forestier, Nadine, del Mar Amador, Maria, Debs, Rabab, Lacomblez, Lucette, Meninger, Vincent, Bruneteau, Gaëlle, Cohen-Adad, Julien, Lehéricy, Stéphane, Laforêt, Pascal, Blancho, Sophie, Benali, Habib, Catala, Martin, Li, Menghan, Marchand-Pauvert, Véronique, Hogrel, Jean-Yves, Bede, Peter, Pradat, Pierre-François
Publicado 2018

Comparative Analysis of C9orf72 and Sporadic Disease in a Large Multicenter ALS Population: The Effect of Male Sex on Survival of C9orf72 Positive Patients

por Trojsi, Francesca, Siciliano, Mattia, Femiano, Cinzia, Santangelo, Gabriella, Lunetta, Christian, Calvo, Andrea, Moglia, Cristina, Marinou, Kalliopi, Ticozzi, Nicola, Ferro, Christian, Scialò, Carlo, Sorarù, Gianni, Conte, Amelia, Falzone, Yuri M., Tortelli, Rosanna, Russo, Massimo, Sansone, Valeria Ada, Chiò, Adriano, Mora, Gabriele, Silani, Vincenzo, Volanti, Paolo, Caponnetto, Claudia, Querin, Giorgia, Sabatelli, Mario, Riva, Nilo, Logroscino, Giancarlo, Messina, Sonia, Fasano, Antonio, Monsurrò, Maria Rosaria, Tedeschi, Gioacchino, Mandrioli, Jessica
Publicado 2019

Results from Phase I Clinical Trial with Intraspinal Injection of Neural Stem Cells in Amyotrophic Lateral Sclerosis: A Long‐Term Outcome

por Mazzini, Letizia, Gelati, Maurizio, Profico, Daniela Celeste, Sorarù, Gianni, Ferrari, Daniela, Copetti, Massimiliano, Muzi, Gianmarco, Ricciolini, Claudia, Carletti, Sandro, Giorgi, Cesare, Spera, Cristina, Frondizi, Domenico, Masiero, Stefano, Stecco, Alessandro, Cisari, Carlo, Bersano, Enrica, De Marchi, Fabiola, Sarnelli, Maria Francesca, Querin, Giorgia, Cantello, Roberto, Petruzzelli, Francesco, Maglione, Annamaria, Zalfa, Cristina, Binda, Elena, Visioli, Alberto, Trombetta, Domenico, Torres, Barbara, Bernardini, Laura, Gaiani, Alessandra, Massara, Maurilio, Paolucci, Silvia, Boulis, Nicholas M., Vescovi, Angelo L.
Publicado 2019

Human neural stem cell transplantation in ALS: initial results from a phase I trial

por Mazzini, Letizia, Gelati, Maurizio, Profico, Daniela Celeste, Sgaravizzi, Giada, Projetti Pensi, Massimo, Muzi, Gianmarco, Ricciolini, Claudia, Rota Nodari, Laura, Carletti, Sandro, Giorgi, Cesare, Spera, Cristina, Domenico, Frondizi, Bersano, Enrica, Petruzzelli, Francesco, Cisari, Carlo, Maglione, Annamaria, Sarnelli, Maria Francesca, Stecco, Alessandro, Querin, Giorgia, Masiero, Stefano, Cantello, Roberto, Ferrari, Daniela, Zalfa, Cristina, Binda, Elena, Visioli, Alberto, Trombetta, Domenico, Novelli, Antonio, Torres, Barbara, Bernardini, Laura, Carriero, Alessandro, Prandi, Paolo, Servo, Serena, Cerino, Annalisa, Cima, Valentina, Gaiani, Alessandra, Nasuelli, Nicola, Massara, Maurilio, Glass, Jonathan, Sorarù, Gianni, Boulis, Nicholas M, Vescovi, Angelo L
Publicado 2015

Muscle cells of sporadic amyotrophic lateral sclerosis patients secrete neurotoxic vesicles

por Le Gall, Laura, Duddy, William J., Martinat, Cecile, Mariot, Virginie, Connolly, Owen, Milla, Vanessa, Anakor, Ekene, Ouandaogo, Zamalou G., Millecamps, Stephanie, Lainé, Jeanne, Vijayakumar, Udaya Geetha, Knoblach, Susan, Raoul, Cedric, Lucas, Olivier, Loeffler, Jean Philippe, Bede, Peter, Behin, Anthony, Blasco, Helene, Bruneteau, Gaelle, Del Mar Amador, Maria, Devos, David, Henriques, Alexandre, Hesters, Adele, Lacomblez, Lucette, Laforet, Pascal, Langlet, Timothee, Leblanc, Pascal, Le Forestier, Nadine, Maisonobe, Thierry, Meininger, Vincent, Robelin, Laura, Salachas, Francois, Stojkovic, Tanya, Querin, Giorgia, Dumonceaux, Julie, Butler Browne, Gillian, González De Aguilar, Jose‐Luis, Duguez, Stephanie, Pradat, Pierre Francois
Publicado 2022

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