Refractory migraine in a headache clinic population

Por Irimia, Pablo, Palma, Jose-Alberto, Fernandez-Torron, Roberto, Martinez-Vila, Eduardo
Publicado em 2011

Myotonic Dystrophy type 1 cells display impaired metabolism and mitochondrial dysfunction that are reversed by metformin

Por García-Puga, Mikel, Saenz-Antoñanzas, Ander, Fernández-Torrón, Roberto, de Munain, Adolfo Lopez, Matheu, Ander
Publicado no Aging (Albany NY) (2020)

Cancer Phenotype in Myotonic Dystrophy Patients: Results from a Meta-analysis

Por Emparanza, Jose I., de Munain, Adolfo López, Greene, Mark H., Matheu, Ander, Fernández-Torrón, Roberto, Gadalla, Shahinaz M.
Publicado no Muscle Nerve (2018)

Muscle wasting in myotonic dystrophies: a model of premature aging

Por Mateos-Aierdi, Alba Judith, Goicoechea, Maria, Aiastui, Ana, Fernández-Torrón, Roberto, Garcia-Puga, Mikel, Matheu, Ander, López de Munain, Adolfo
Publicado no Front Aging Neurosci (2015)

Calpain 3 deficiency affects SERCA expression and function in the skeletal muscle

Por Toral-Ojeda, Ivan, Aldanondo, Garazi, Lasa-Elgarresta, Jaione, Lasa-Fernández, Haizpea, Fernández-Torrón, Roberto, López de Munain, Adolfo, Vallejo-Illarramendi, Ainara
Publicado no Expert Rev Mol Med (2016)

Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry

Por Evangelista, Teresinha, Wood, Libby, Fernandez-Torron, Roberto, Williams, Maggie, Smith, Debbie, Lunt, Peter, Hudson, Judith, Norwood, Fiona, Orrell, Richard, Willis, Tracey, Hilton-Jones, David, Rafferty, Karen, Guglieri, Michela, Lochmüller, Hanns
Publicado no J Neurol (2016)

Leukocyte telomere length in patients with myotonic dystrophy type I: a pilot study

Por Wang, Youjin, Best, Ana, Fernández‐Torrón, Roberto, Alsaggaf, Rotana, Garcia‐Puga, Mikel, Dagnall, Casey L., Hicks, Belynda, Thompson, Mone’t, Matheu Fernandez, Ander, Zulaica Ijurco, Miren, Greene, Mark H., Lopez de Munain, Adolfo, Gadalla, Shahinaz M.
Publicado no Ann Clin Transl Neurol (2019)

Late-onset thymidine kinase 2 deficiency: a review of 18 cases

Por Domínguez-González, Cristina, Hernández-Laín, Aurelio, Rivas, Eloy, Hernández-Voth, Ana, Sayas Catalán, Javier, Fernández-Torrón, Roberto, Fuiza-Luces, Carmen, García García, Jorge, Morís, Germán, Olivé, Montse, Miralles, Frances, Díaz-Manera, Jordi, Caballero, Candela, Méndez-Ferrer, Bosco, Martí, Ramon, García Arumi, Elena, Badosa, María Carmen, Esteban, Jesús, Jimenez-Mallebrera, Cecilia, Encinar, Alberto Blazquez, Arenas, Joaquín, Hirano, Michio, Martin, Miguel Ángel, Paradas, Carmen
Publicado no Orphanet J Rare Dis (2019)

Intensive Teenage Activity Is Associated With Greater Muscle Hyperintensity on T1W Magnetic Resonance Imaging in Adults With Dysferlinopathy

Por Moore, Ursula, Jacobs, Marni, Fernandez-Torron, Roberto, LLauger Rossello, Jaume, Smith, Fiona E., James, Meredith, Mayhew, Anna, Rufibach, Laura, Carlier, Pierre G., Blamire, Andrew M., 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, Mendell, Jerry R., Bushby, Kate, Straub, Volker, Diaz-Manera, Jordi
Publicado no Front Neurol (2020)

Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients

Por Molenaar, Joery P, Verhoeven, Jamie I, Rodenburg, Richard J, Kamsteeg, Erik J, Erasmus, Corrie E, Vicart, Savine, Behin, Anthony, Bassez, Guillaume, Magot, Armelle, Péréon, Yann, Brandom, Barbara W, Guglielmi, Valeria, Vattemi, Gaetano, Chevessier, Frédéric, Mathieu, Jean, Franques, Jérôme, Suetterlin, Karen, Hanna, Michael G, Guyant-Marechal, Lucie, Snoeck, Marc M, Roberts, Mark E, Kuntzer, Thierry, Fernandez-Torron, Roberto, Martínez-Arroyo, Amaia, Seeger, Juergen, Kusters, Benno, Treves, Susan, van Engelen, Baziel G, Eymard, Bruno, Voermans, Nicol C, Sternberg, Damien
Publicado no Brain (2020)

Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain

Por Sivera, Rafael, Frasquet, Marina, Lupo, Vincenzo, García-Sobrino, Tania, Blanco-Arias, Patricia, Pardo, Julio, Fernández-Torrón, Roberto, de Munain, Adolfo López, Márquez-Infante, Celedonio, Villarreal, Liliana, Carbonell, Pilar, Rojas-García, Ricard, Segovia, Sonia, Illa, Isabel, Frongia, Anna Lia, Nascimento, Andrés, Ortez, Carlos, García-Romero, María del Mar, Pascual, Samuel Ignacio, Pelayo-Negro, Ana Lara, Berciano, José, Guerrero, Antonio, Casasnovas, Carlos, Camacho, Ana, Esteban, Jesús, Chumillas, María José, Barreiro, Marisa, Díaz, Carmen, Palau, Francesc, Vílchez, Juan Jesús, Espinós, Carmen, Sevilla, Teresa
Publicado no Sci Rep (2017)

Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb...

Por Johnson, Katherine, Bertoli, Marta, Phillips, Lauren, Töpf, Ana, Van den Bergh, Peter, Vissing, John, Witting, Nanna, Nafissi, Shahriar, Jamal-Omidi, Shirin, Łusakowska, Anna, Kostera-Pruszczyk, Anna, Potulska-Chromik, Anna, Deconinck, Nicolas, Wallgren-Pettersson, Carina, Strang-Karlsson, Sonja, Colomer, Jaume, Claeys, Kristl G., De Ridder, Willem, Baets, Jonathan, von der Hagen, Maja, Fernández-Torrón, Roberto, Zulaica Ijurco, Miren, Espinal Valencia, Juan Bautista, Hahn, Andreas, Durmus, Hacer, Willis, Tracey, Xu, Liwen, Valkanas, Elise, Mullen, Thomas E., Lek, Monkol, MacArthur, Daniel G., Straub, Volker
Publicado no Skelet Muscle (2018)

Clinical and therapeutic features of myasthenia gravis in adults based on age at onset

Por Cortés-Vicente, Elena, Álvarez-Velasco, Rodrigo, Segovia, Sonia, Paradas, Carmen, Casasnovas, Carlos, Guerrero-Sola, Antonio, Pardo, Julio, Ramos-Fransi, Alba, Sevilla, Teresa, López de Munain, Adolfo, Gómez, Maria Teresa, Jericó, Ivonne, Gutiérrez-Gutiérrez, Gerardo, Pelayo-Negro, Ana Lara, Martín, María Asunción, Mendoza, María Dolores, Morís, Germán, Rojas-Garcia, Ricard, Díaz-Manera, Jordi, Querol, Luis, Gallardo, Eduard, Vélez, Beatriz, Albertí, María Antonia, Galán, Lucía, García-Sobrino, Tania, Martínez-Piñeiro, Alicia, Lozano-Veintimilla, Ana, Fernández-Torrón, Roberto, Cano-Abascal, Ángel, Illa, Isabel
Publicado no Neurology (2020)

Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study

Por Moore, Ursula R, Jacobs, Marni, Fernandez-Torron, Roberto, Jang, Jiji, James, Meredith K, Mayhew, Anna, Rufibach, Laura, Mittal, Plavi, Eagle, Michelle, Cnaan, Avital, Carlier, Pierre G, Blamire, Andrew, Hilsden, Heather, Lochmüller, Hanns, Grieben, Ulrike, Spuler, Simone, Tesi Rocha, Carolina, Day, John W, Jones, Kristi J, Bharucha-Goebel, Diana X, Salort-Campana, Emmanuelle, Harms, Matthew, Pestronk, Alan, Krause, Sabine, Schreiber-Katz, Olivia, Walter, Maggie C, Paradas, Carmen, Hogrel, Jean-Yves, Stojkovic, Tanya, Takeda, Shin’ichi, Mori-Yoshimura, Madoka, Bravver, Elena, Sparks, Susan, Diaz-Manera, Jordi, Bello, Luca, Semplicini, Claudio, Pegoraro, Elena, Mendell, Jerry R, Bushby, Kate, Straub, Volker
Publicado no J Neurol Neurosurg Psychiatry (2018)

Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials

Por Diaz-Manera, Jordi, Fernandez-Torron, Roberto, LLauger, Jaume, James, Meredith K, Mayhew, Anna, Smith, Fiona E, Moore, Ursula R, Blamire, Andrew M, Carlier, Pierre G, Rufibach, Laura, Mittal, Plavi, Eagle, Michelle, Jacobs, Marni, Hodgson, Tim, Wallace, Dorothy, Ward, Louise, Smith, Mark, Stramare, Roberto, Rampado, Alessandro, Sato, Noriko, Tamaru, Takeshi, Harwick, Bruce, Rico Gala, Susana, Turk, Suna, Coppenrath, Eva M, Foster, Glenn, Bendahan, David, Le Fur, Yann, Fricke, Stanley T, Otero, Hansel, Foster, Sheryl L, Peduto, Anthony, Sawyer, Anne Marie, Hilsden, Heather, Lochmuller, Hanns, Grieben, Ulrike, Spuler, Simone, Tesi Rocha, Carolina, Day, John W, Jones, Kristi J, Bharucha-Goebel, Diana X, Salort-Campana, Emmanuelle, Harms, Matthew, Pestronk, Alan, Krause, Sabine, Schreiber-Katz, Olivia, Walter, Maggie C, Paradas, Carmen, Hogrel, Jean-Yves, Stojkovic, Tanya, Takeda, Shin’ichi, Mori-Yoshimura, Madoka, Bravver, Elena, Sparks, Susan, Bello, Luca, Semplicini, Claudio, Pegoraro, Elena, Mendell, Jerry R, Bushby, Kate, Straub, Volker
Publicado no J Neurol Neurosurg Psychiatry (2018)

Assessment of disease progression in dysferlinopathy: A 1-year cohort study

Por Moore, Ursula, Jacobs, Marni, James, Meredith K., Mayhew, Anna G., Fernandez-Torron, Roberto, Feng, Jia, Cnaan, Avital, Eagle, Michelle, Bettinson, Karen, Rufibach, Laura E., Lofra, Robert Muni, Blamire, Andrew M., Carlier, Pierre G., Mittal, Plavi, Lowes, Linda Pax, Alfano, Lindsay, Rose, Kristy, Duong, Tina, Berry, Katherine M., Montiel-Morillo, Elena, Pedrosa-Hernández, Irene, Holsten, Scott, Sanjak, Mohammed, Ashida, Ai, Sakamoto, Chikako, Tateishi, Takayuki, Yajima, Hiroyuki, Canal, Aurélie, Ollivier, Gwenn, Decostre, Valerie, Mendez, Juan Bosco, Sánchez-Aguilera Praxedes, Nieves, Thiele, Simone, Siener, Catherine, Shierbecker, Jeanine, Florence, Julaine M., Vandevelde, Bruno, DeWolf, Brittney, Hutchence, Meghan, Gee, Richard, Prügel, Juliana, Maron, Elke, Hilsden, Heather, Lochmüller, Hanns, Grieben, Ulrike, Spuler, Simone, Tesi Rocha, Carolina, Day, John W., Jones, Kristi J., Bharucha-Goebel, Diana X., Salort-Campana, Emmanuelle, Harms, Matthew, Pestronk, Alan, Krause, Sabine, Schreiber-Katz, Olivia, Walter, Maggie C., Paradas, Carmen, Hogrel, Jean-Yves, Stojkovic, Tanya, Takeda, Shin'ichi, Mori-Yoshimura, Madoka, Bravver, Elena, Sparks, Susan, Díaz-Manera, Jordi, Bello, Luca, Semplicini, Claudio, Pegoraro, Elena, Mendell, Jerry R., Bushby, Kate, Straub, Volker
Publicado no Neurology (2019)