Refractory migraine in a headache clinic population

door Irimia, Pablo, Palma, Jose-Alberto, Fernandez-Torron, Roberto, Martinez-Vila, Eduardo
Gepubliceerd in 2011

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

door García-Puga, Mikel, Saenz-Antoñanzas, Ander, Fernández-Torrón, Roberto, de Munain, Adolfo Lopez, Matheu, Ander
Gepubliceerd in Aging (Albany NY) (2020)

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

door Emparanza, Jose I., de Munain, Adolfo López, Greene, Mark H., Matheu, Ander, Fernández-Torrón, Roberto, Gadalla, Shahinaz M.
Gepubliceerd in Muscle Nerve (2018)

Muscle wasting in myotonic dystrophies: a model of premature aging

door Mateos-Aierdi, Alba Judith, Goicoechea, Maria, Aiastui, Ana, Fernández-Torrón, Roberto, Garcia-Puga, Mikel, Matheu, Ander, López de Munain, Adolfo
Gepubliceerd in Front Aging Neurosci (2015)

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

door Toral-Ojeda, Ivan, Aldanondo, Garazi, Lasa-Elgarresta, Jaione, Lasa-Fernández, Haizpea, Fernández-Torrón, Roberto, López de Munain, Adolfo, Vallejo-Illarramendi, Ainara
Gepubliceerd in Expert Rev Mol Med (2016)

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

door 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
Gepubliceerd in J Neurol (2016)

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

door 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.
Gepubliceerd in Ann Clin Transl Neurol (2019)

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

door 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
Gepubliceerd in Orphanet J Rare Dis (2019)

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

door 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
Gepubliceerd in Front Neurol (2020)

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

door 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
Gepubliceerd in Brain (2020)

Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain

door 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
Gepubliceerd in 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...

door 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
Gepubliceerd in Skelet Muscle (2018)

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

door 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
Gepubliceerd in Neurology (2020)

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

door 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
Gepubliceerd in J Neurol Neurosurg Psychiatry (2018)

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

door 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
Gepubliceerd in J Neurol Neurosurg Psychiatry (2018)

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

door 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
Gepubliceerd in Neurology (2019)