المؤلفون: Cristina Domínguez-González, Carmina Díaz-Marín, Raúl Juntas-Morales, Andrés Nascimiento-Osorio, Alberto Rivera-Gallego, Jordi Díaz-Manera

المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-7 (2022)

مصطلحات موضوعية: Antibodies, Diagnosis, Follow-up, Guidelines, Pompe disease, Treatment, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/1ffc0abf60b247ee9369406a29763251

المؤلفون: Daniel Sánchez-Tejerina, Juan Luis Restrepo-Vera, Eulalia Rovira-Moreno, Marta Codina-Sola, Arnau Llauradó, Javier Sotoca, Maria Salvado, Núria Raguer, Elena García-Arumí, Raúl Juntas-Morales

المصدر: Genes, Vol 13, Iss 8, p 1483 (2022)

مصطلحات موضوعية: TARDBP, TDP-43, juvenile amyotrophic lateral sclerosis, upper motor neuron predominant disorder, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4425/13/8/1483; https://doaj.org/toc/2073-4425

URL الوصول: https://doaj.org/article/f9709e54df794edfa35f3b460eba9d98

المؤلفون: Laura Blasco-Pérez, Mar Costa-Roger, Jordi Leno-Colorado, Sara Bernal, Laura Alias, Marta Codina-Solà, Desirée Martínez-Cruz, Claudia Castiglioni, Enrico Bertini, Lorena Travaglini, José M. Millán, Elena Aller, Javier Sotoca, Raúl Juntas, Christina Engel Hoei-Hansen, Antonio Moreno-Escribano, Encarna Guillén-Navarro, Laura Costa-Comellas, Francina Munell, Susana Boronat, Ricardo Rojas-García, Mónica Povedano, Ivon Cuscó, Eduardo F. Tizzano

المصدر: International Journal of Molecular Sciences, Vol 23, Iss 15, p 8289 (2022)

مصطلحات موضوعية: spinal muscular atrophy, SMN2 copies, phenotype–genotype correlations, positive modifiers, next-generation sequencing, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1422-0067/23/15/8289; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067

URL الوصول: https://doaj.org/article/710b935333e94d279a284a123d4aec27

المؤلفون: Granit, Volkan, Steele, Julie, Levy, Wendy, Paredes, Maria Elena, Hernandez, Jessica, Bilsker, Martin, Szacka, Katarzyna, Ronert, Adam, Jablońska, Dorota, Łuczak, Alina Zuzanna, Chaverri, Delia, Janse van Mantgem, Mark R, Bunte, Tommy M, Broere, Bianca, de Fockert, Arianne, Sanchez-Tejerina, Daniel, Landabaso, Carmen, Calvo, Andrea, Moglia, Cristina, Manera, Umberto, Canosa, Antonio, Vasta, Rosario, Salamone, Paolina, Fuda, Giuseppe, DeMarco, Giovanni, Casale, Federico, ME Forsberg, Karin, Winroth, Ivar, Almgren Stenberg, Erica, Holmgren, Monica, Amador, Maria del Mar, Lenglet, Timothee, Querin, Giorgia, Coudoin, Sylvie, Pavlakis, Pantelis, Holzberg, Shara, Sideri, Riccardo, Marinou, Kalliopi, Czarnecki, Maciej, Ługiewicz, Renata, Biel-Czarnecka, Marta, Boczkowska, Marcelina, Schotte, Caroline, Vynckier, Jan, Van Daele, Sien, Claeys, Thomas, Delmotte, Koen, Swinnen, Bart, Serrien, Anouk, D'Hondt, Ann, Lamaire, Nikita, Debien, Elisa, Jones, Sarah, Vachon, Chris, Grogan, James, Solorzano, Guillermo, Crowell, Allison, Rakocevic, Goran, Wagoner, Mary, Alma, Osmanovic, Flavia, Wiehler, Sonja, Körner, Olivia, Schreiber-Katz, Camilla, Wohnrade, Anastasia, Sarikidi, Carola, Kassebaum, Chantal, Fischer, Adamo, Ashley, Turcotte, Nicole, Duncan, Jessie, Turner, Ivone, Elman, Lauren, Massie, Rami, Berube, Maxime, Saunders, Natalie, Salmon, Kristiana, Foucher, Juliette, Agessandro, Abrahao, Shirley, Pham, Jahan, Mookshah, Phung, Liane, Statland, Jeffrey, Jawdat, Omar, Dimachkie, Mazen, Pasnoor, Mamatha, Farmakidis, Constantine, Heim, Andrew, Lillig, Katie, Lackey, Alyssa, Weber, Markus, Kurz, Martina, Levine, Todd, Benatar, Michael ^*, Hansen, Thomas, Rom, Dror, Geist, Marie A, Blaettler, Thomas, Camu, William, Kuzma-Kozakiewicz, Magdalena, van den Berg, Leonard H, Morales, Raul Juntas, Chio, Adriano, Andersen, Peter M, Pradat, Pierre-Francois, Lange, Dale, Van Damme, Philip, Mora, Gabriele, Grudniak, Mariusz, Elliott, Matthew, Petri, Susanne, Olney, Nicholas, Ladha, Shafeeq, Goyal, Namita A, Meyer, Thomas, Hanna, Michael G, Quinn, Colin, Genge, Angela, Zinman, Lorne, Jabari, Duaa, Shoesmith, Christen, Ludolph, Albert C, Neuwirth, Christoph, Nations, Sharon, Shefner, Jeremy M, Turner, Martin R, Wuu, Joanne, Bennett, Richard, Dang, Hoang, Sundgreen, Claus

المصدر: In The Lancet Neurology July 2024 23(7):687-699

المؤلفون: Damy, Thibaud, Donal, Erwan, Lairez, Olivier, Eicher, Jean-Christophe, Karoubi, Mounira, Trochu, Jean-Noël, Inamo, Jocelyn, Habib, Gilbert, Roubille, François, Hagège, Albert, Morio, Flore, Cariou, Eve, Adda, Jérôme, Algalarrondo, Vincent, Coste, Agathe, Bartoli, Mathilde, Rudant, Jérémie, Salvi, Lara, Francou, Bruno, Guiochon-Mantel, Anne, Adams, David, Antoine, Jean-Christophe, Attarian, Shahram, Cintas, Pascal, Morales, Raul Juntas, Lagrange, Emmeline, Magy, Laurent, Mallaret, Martial, Péréon, Yann, Petiot, Philippe, Cauquil, Cécile, Labeyrie, Céline, Echaniz-Laguna, Andoni, Sole, Guilhem, Tard, Céline, Oghina, Silvia, Charron, Philippe, Slama, Michel

المصدر: In Rare 2024 2

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المؤلفون: François-Heude, Marie-Céline, Walther-Louvier, Ulrike, Espil-Taris, Caroline, Beze-Beyrie, Pierre, Rivier, François, Baudou, Eloise, Uro-Coste, Emmanuelle, Rigau, Valérie, Martin Negrier, Marie Laure, Rendu, John, Morales, Raul Juntas, Pégeot, Henri, Thèze, Corinne, Lacourt, Delphine, Coville, Anne Cécile, Cossée, Mireille, Cances, Claude

المصدر: In European Journal of Paediatric Neurology March 2021 31:78-87

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