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Your search keyword '"Fernández-Torrón, Roberto"' showing total 7 results
Start Over Author "Fernández-Torrón, Roberto" Publisher elsevier b.v.
7 results on '"Fernández-Torrón, Roberto"'

1. Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease

Author

Moore, Ursula, Gordish, Heather, Diaz-Manera, Jordi, James, Meredith K., Mayhew, Anna G., Guglieri, Michela, Fernandez-Torron, Roberto, Rufibach, Laura E., Feng, Jia, Blamire, Andrew M., Carlier, Pierre G., Spuler, Simone, Day, John W., Jones, Kristi J., Bharucha-Goebel, Diana X., Salort-Campana, Emmanuelle, Pestronk, Alan, Walter, Maggie C., Paradas, Carmen, Stojkovic, Tanya, Mori-Yoshimura, Madoka, Bravver, Elena, Pegoraro, Elena, Lowes, Linda Pax, Mendell, Jerry R., Bushby, Kate, and Straub, Volker

Published
2021
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2. MYO-MRI diagnostic protocols in genetic myopathies

Author

Warman Chardon, Jodi, Díaz-Manera, Jordi, Tasca, Giorgio, Bönnemann, Carsten G., Gómez-Andrés, David, Heerschap, Arend, Mercuri, Eugenio, Muntoni, Francesco, Pichiecchio, Anna, Ricci, Enzo, Walter, Maggie C., Hanna, Michael, Jungbluth, Heinz, Morrow, Jasper M., Fernández-Torrón, Roberto, Udd, Bjarne, Vissing, John, Yousry, Tarek, Quijano-Roy, Susana, Straub, Volker, and Carlier, Robert Y

Published
2019
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3. Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes

Author

Díaz-Manera, Jordi, Alejaldre, Aida, González, Laura, Olivé, Montse, Gómez-Andrés, David, Muelas, Nuria, Vílchez, Juan José, Llauger, Jaume, Carbonell, Pilar, Márquez-Infante, Celedonio, Fernández-Torrón, Roberto, Poza, Juan José, López de Munáin, Adolfo, González-Quereda, Lidia, Mirabet, Sonia, Clarimon, Jordi, Gallano, Pía, Rojas-García, Ricard, Gallardo, Eduard, and Illa, Isabel

Published
2016
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5. 265th ENMC International Workshop: Muscle imaging in Facioscapulohumeral Muscular Dystrophy (FSHD): relevance for clinical trials. 22–24 April 2022, Hoofddorp, The Netherlands

Author

Attarian, Shahram, Badiani, Raj, Bendahan, David, Carlier, Pierre, Carlier, Robert-Yves, Dahlqvist Leinhard, Olof, Diaz-Manera, Jordi, Fernandez-Torron, Roberto, Gerhalter, Teresa, Heskamp, Linda, Kan, Hermien, Leung, Doris, Martins-Bach, Aurea, Meiburger, Kisten, Monforte, Mauro, Pichiecchio, Anna, Rataj, Michal, Sacconi, Sabrina, Santini, Francesco, Tasca, Giorgio, van Alfen, Nens, Vincenten, Sanne, Vissing, John, and Voermans, Nicol

Published
2023
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7. ALS: A bucket of genes, environment, metabolism and unknown ingredients.

Author

Zufiría, Mónica, Gil-Bea, Francisco Javier, Fernández-Torrón, Roberto, Poza, Juan José, Muñoz-Blanco, Jose Luis, Rojas-García, Ricard, Riancho, Javier, and de Munain, Adolfo López

Subjects
*GENE expression, *GENETICS of amyotrophic lateral sclerosis, *METABOLISM, *FATTY acids, *KETOGENIC diet, *NEURODEGENERATION, *CILIARY neurotrophic factor
Abstract

The scientific scenario of amyotrophic lateral sclerosis (ALS) has dramatically changed since TDP-43 aggregates were discovered in 2006 as the main component of the neuronal inclusions seen in the disease, and more recently, when the implication of C9ORF72 expansion in familial and sporadic cases of ALS and frontotemporal dementia was confirmed. These discoveries have enlarged an extense list of genes implicated in different cellular processes such as RNA processing or autophagia among others and have broaden the putative molecular targets of the disease. Some of ALS-related genes such as TARDBP or SOD1 among others have important roles in the regulation of glucose and fatty acids metabolism, so that an impairment of fatty acids (FA) consumption and ketogenic deficits during exercise in ALS patients would connect the physiopathology with some of the more intriguing epidemiological traits of the disease. The current understanding of ALS as part of a continuum with other neurodegenerative diseases and a crossroads between genetic, neurometabolic and environmental factors represent a fascinating model of interaction that could be translated to other neurodegenerative diseases. In this review we summarize the most relevant data obtained in the ten last years and the key lines for future research in ALS. [ABSTRACT FROM AUTHOR]

Published
2016
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