Works by Fernández-Torrón, Roberto

Results: 16
    1
    2

    Chronic pain has a strong impact on quality of life in facioscapulohumeral muscular dystrophy.

    Published in:
    2018
    By:
    • Morís, Germán;
    • Wood, Libby;
    • FernáNdez‐Torrón, Roberto;
    • González Coraspe, José Andrés;
    • Turner, Chris;
    • Hilton‐Jones, David;
    • Norwood, Fiona;
    • Willis, Tracey;
    • Parton, Matt;
    • Rogers, Mark;
    • Hammans, Simon;
    • Roberts, Mark;
    • Househam, Elizabeth;
    • Williams, Maggie;
    • Lochmüller, Hanns;
    • Evangelista, Teresinha;
    • FernáNdez-Torrón, Roberto;
    • Hilton-Jones, David
    Publication type:
    journal article
    3
    4

    The Role of Integrin β1D Mislocalization in the Pathophysiology of Calpain 3-Related Limb–Girdle Muscular Dystrophy.

    Published in:
    Cells (2073-4409), 2025, v. 14, n. 6, p. 446, doi. 10.3390/cells14060446
    By:
    • Valls, Andrea;
    • Ruiz-Roldán, Cristina;
    • Immanuel, Jenita;
    • Alonso-Martín, Sonia;
    • Gallardo, Eduard;
    • Fernández-Torrón, Roberto;
    • Bonilla, Mario;
    • Lersundi, Ana;
    • Hernández-Laín, Aurelio;
    • Domínguez-González, Cristina;
    • Vílchez, Juan Jesús;
    • Iruzubieta, Pablo;
    • López de Munain, Adolfo;
    • Sáenz, Amets
    Publication type:
    Article
    5

    Delay of EGF-Stimulated EGFR Degradation in Myotonic Dystrophy Type 1 (DM1).

    Published in:
    Cells (2073-4409), 2022, v. 11, n. 19, p. 3018, doi. 10.3390/cells11193018
    By:
    • Alegre-Cortés, Eva;
    • Giménez-Bejarano, Alberto;
    • Uribe-Carretero, Elisabet;
    • Paredes-Barquero, Marta;
    • Marques, André R. A.;
    • Lopes-da-Silva, Mafalda;
    • Vieira, Otília V.;
    • Canales-Cortés, Saray;
    • Camello, Pedro J.;
    • Martínez-Chacón, Guadalupe;
    • Aiastui, Ana;
    • Fernández-Torrón, Roberto;
    • López de Munain, Adolfo;
    • Gomez-Suaga, Patricia;
    • Niso-Santano, Mireia;
    • González-Polo, Rosa A.;
    • Fuentes, José M.;
    • Yakhine-Diop, Sokhna M. S.
    Publication type:
    Article
    6

    Three‐year quantitative magnetic resonance imaging and phosphorus magnetic resonance spectroscopy study in lower limb muscle in dysferlinopathy.

    Published in:
    Journal of Cachexia, Sarcopenia & Muscle, 2022, v. 13, n. 3, p. 1850, doi. 10.1002/jcsm.12987
    By:
    • Reyngoudt, Harmen;
    • Smith, Fiona E.;
    • Caldas de Almeida Araújo, Ericky;
    • Wilson, Ian;
    • Fernández‐Torrón, Roberto;
    • James, Meredith K.;
    • Moore, Ursula R.;
    • Díaz‐Manera, Jordi;
    • Marty, Benjamin;
    • Azzabou, Noura;
    • Gordish, Heather;
    • Rufibach, Laura;
    • Hodgson, Tim;
    • Wallace, Dorothy;
    • Ward, Louise;
    • Boisserie, Jean‐Marc;
    • Le Louër, Julien;
    • Hilsden, Heather;
    • Sutherland, Helen;
    • Canal, Aurélie
    Publication type:
    Article
    7

    Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis.

    Published in:
    Journal of Neurology, 2022, v. 269, n. 7, p. 3550, doi. 10.1007/s00415-021-10957-0
    By:
    • Domínguez-González, Cristina;
    • Fernández-Torrón, Roberto;
    • Moore, Ursula;
    • de Fuenmayor-Fernández de la Hoz, Carlos Pablo;
    • Vélez-Gómez, Beatriz;
    • Cabezas, Juan Antonio;
    • Alonso-Pérez, Jorge;
    • González-Mera, Laura;
    • Olivé, Montse;
    • García-García, Jorge;
    • Moris, Germán;
    • León Hernández, Juan Carlos;
    • Muelas, Nuria;
    • Servian-Morilla, Emilia;
    • Martin, Miguel A.;
    • Díaz-Manera, Jordi;
    • Paradas, Carmen
    Publication type:
    Article
    8
    9

    A comprehensive serum lipidome profiling of amyotrophic lateral sclerosis.

    Published in:
    Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2020, v. 21, n. 3/4, p. 252, doi. 10.1080/21678421.2020.1730904
    By:
    • FernÁndez-Eulate, Gorka;
    • Ruiz-Sanz, JosÉ Ignacio;
    • Riancho, Javier;
    • ZufirÍa, Monica;
    • GereÑu, Gorka;
    • FernÁndez-TorrÓn, Roberto;
    • Poza-Aldea, Juan JosÉ;
    • Ondaro, Jon;
    • Espinal, Juan Bautista;
    • GonzÁlez-ChinchÓn, Gonzalo;
    • Zulaica, Miren;
    • Ruiz-Larrea, Maria BegoÑa;
    • LÓpez De Munain, Adolfo;
    • Gil-Bea, Francisco Javier
    Publication type:
    Article
    10

    A founder variant in the RYR1 gene is associated with hyperCKemia, myalgia and muscle cramps.

    Published in:
    European Journal of Neurology, 2025, v. 32, n. 1, p. 1, doi. 10.1111/ene.16471
    By:
    • Segarra‐Casas, Alba;
    • Iruzubieta, Pablo;
    • Kapetanovic, Solange;
    • Hernández‐Laín, Aurelio;
    • Jericó, Ivonne;
    • Fernández‐Torrón, Roberto;
    • Maneiro, Miren;
    • Marco‐Moreno, Pablo;
    • Zelaya‐Huerta, M. Victoria;
    • Rodríguez‐Santiago, Benjamín;
    • Calafell, Francesc;
    • Töpf, Ana;
    • Straub, Volker;
    • Vallejo‐Illarramendi, Ainara;
    • López de Munain, Adolfo;
    • Gallano, Pia;
    • Gonzalez‐Quereda, Lidia
    Publication type:
    Article
    11

    Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late‐onset cerebellar ataxia.

    Published in:
    European Journal of Neurology, 2023, v. 30, n. 12, p. 3828, doi. 10.1111/ene.16039
    By:
    • Iruzubieta, Pablo;
    • Pellerin, David;
    • Bergareche, Alberto;
    • Albajar, Inés;
    • Mondragón, Elisabet;
    • Vinagre, Ana;
    • Fernández‐Torrón, Roberto;
    • Moreno, Fermín;
    • Equiza, Jon;
    • Campo‐Caballero, David;
    • Poza, Juan José;
    • Ruibal, Marta;
    • Formica, Alessandro;
    • Dicaire, Marie‐Josée;
    • Danzi, Matt C.;
    • Zuchner, Stephan;
    • Croitoru, Ioana;
    • Ruiz, Montserrat;
    • Schlüter, Agatha;
    • Casasnovas, Carlos
    Publication type:
    Article
    12

    Analysis of the CHCHD10 gene in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Spain.

    Published in:
    2015
    By:
    • Dols-Icardo, Oriol;
    • Nebot, Irene;
    • Gorostidi, Ana;
    • Ortega-Cubero, Sara;
    • Hernández, Isabel;
    • Rojas-García, Ricard;
    • García-Redondo, Alberto;
    • Povedano, Monica;
    • Lladó, Albert;
    • Álvarez, Victoria;
    • Sánchez-Juan, Pascual;
    • Pardo, Julio;
    • Jericó, Ivonne;
    • Vázquez-Costa, Juan;
    • Sevilla, Teresa;
    • Cardona, Fernando;
    • Indakoechea, Begoña;
    • Moreno, Fermín;
    • Fernández-Torrón, Roberto;
    • Muñoz-Llahuna, Laia
    Publication type:
    Letter
    13

    Dysregulated FOXO1 activity drives skeletal muscle intrinsic dysfunction in amyotrophic lateral sclerosis.

    Published in:
    Acta Neuropathologica, 2024, v. 148, n. 1, p. 1, doi. 10.1007/s00401-024-02794-y
    By:
    • Zufiría, Mónica;
    • Pikatza-Menoio, Oihane;
    • Garciandia-Arcelus, Maddi;
    • Bengoetxea, Xabier;
    • Jiménez, Andrés;
    • Elicegui, Amaia;
    • Levchuk, María;
    • Arnold-García, Olatz;
    • Ondaro, Jon;
    • Iruzubieta, Pablo;
    • Rodríguez-Gómez, Laura;
    • Fernández-Pelayo, Uxoa;
    • Muñoz-Oreja, Mikel;
    • Aiastui, Ana;
    • García-Verdugo, José Manuel;
    • Herranz-Pérez, Vicente;
    • Zulaica, Miren;
    • Poza, Juan José;
    • Ruiz-Onandi, Rebeca;
    • Fernández-Torrón, Roberto
    Publication type:
    Article
    14

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

    Published in:
    Annals of Clinical & Translational Neurology, 2020, v. 7, n. 1, p. 126, doi. 10.1002/acn3.50954
    By:
    • 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.
    Publication type:
    Article
    15
    16

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

    Published in:
    2019
    By:
    • 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
    Publication type:
    journal article