Hasil Pencarian - Roberto Fernández-Torrón

  • Menampilkan 1 - 9 hasil dari 9
Perbaiki Hasil
  1. 1
    Leukocyte telomere length in patients with myotonic dystrophy type I: a pilot study

    Leukocyte telomere length in patients with myotonic dystrophy type I: a pilot study oleh Youjin Wang, Ana Best, Roberto Fernández‐Torrón, Rotana Alsaggaf, Mikel Garcia‐Puga, Casey L. Dagnall, Belynda Hicks, Mone’t Thompson, Ander Matheu Fernandez, Miren Zulaica Ijurco, Mark H. Greene, Adolfo Lopez de Munain, Shahinaz M. Gadalla

    Diterbitkan 2020-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  2. 2
    Senescence plays a role in myotonic dystrophy type 1

    Senescence plays a role in myotonic dystrophy type 1 oleh Mikel García-Puga, Ander Saenz-Antoñanzas, Gorka Gerenu, Alex Arrieta-Legorburu, Roberto Fernández-Torrón, Miren Zulaica, Amets Saenz, Joseba Elizazu, Gisela Nogales-Gadea, Shahinaz M. Gadalla, Marcos J. Araúzo-Bravo, Adolfo López de Munain, Ander Matheu

    Diterbitkan 2022-10-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  3. 3
    Intensive Teenage Activity Is Associated With Greater Muscle Hyperintensity on T1W Magnetic Resonance Imaging in Adults With Dysferlinopathy

    Intensive Teenage Activity Is Associated With Greater Muscle Hyperintensity on T1W Magnetic Resonance Imaging in Adults With Dysferlinopathy oleh Ursula Moore, Marni Jacobs, Marni Jacobs, Roberto Fernandez-Torron, Roberto Fernandez-Torron, Jaume LLauger Rossello, Fiona E. Smith, Meredith James, Anna Mayhew, Laura Rufibach, Pierre G. Carlier, Andrew M. Blamire, John W. Day, Kristi J. Jones, Diana X. Bharucha-Goebel, Diana X. Bharucha-Goebel, Emmanuelle Salort-Campana, Alan Pestronk, Maggie C. Walter, Carmen Paradas, Carmen Paradas, Tanya Stojkovic, Madoka Mori-Yoshimura, Elena Bravver, Elena Pegoraro, Jerry R. Mendell, Kate Bushby, Volker Straub, Jordi Diaz-Manera, Jordi Diaz-Manera, Jordi Diaz-Manera

    Diterbitkan 2020-12-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  4. 4
    Delay of EGF-Stimulated EGFR Degradation in Myotonic Dystrophy Type 1 (DM1)

    Delay of EGF-Stimulated EGFR Degradation in Myotonic Dystrophy Type 1 (DM1) oleh Eva Alegre-Cortés, Alberto Giménez-Bejarano, Elisabet Uribe-Carretero, Marta Paredes-Barquero, André R. A. Marques, Mafalda Lopes-da-Silva, Otília V. Vieira, Saray Canales-Cortés, Pedro J. Camello, Guadalupe Martínez-Chacón, Ana Aiastui, Roberto Fernández-Torrón, Adolfo López de Munain, Patricia Gomez-Suaga, Mireia Niso-Santano, Rosa A. González-Polo, José M. Fuentes, Sokhna M. S. Yakhine-Diop

    Diterbitkan 2022-09-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  5. 5
    Late-onset thymidine kinase 2 deficiency: a review of 18 cases

    Late-onset thymidine kinase 2 deficiency: a review of 18 cases oleh Cristina Domínguez-González, Aurelio Hernández-Laín, Eloy Rivas, Ana Hernández-Voth, Javier Sayas Catalán, Roberto Fernández-Torrón, Carmen Fuiza-Luces, Jorge García García, Germán Morís, Montse Olivé, Frances Miralles, Jordi Díaz-Manera, Candela Caballero, Bosco Méndez-Ferrer, Ramon Martí, Elena García Arumi, María Carmen Badosa, Jesús Esteban, Cecilia Jimenez-Mallebrera, Alberto Blazquez Encinar, Joaquín Arenas, Michio Hirano, Miguel Ángel Martin, Carmen Paradas

    Diterbitkan 2019-05-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  6. 6
    Three‐year quantitative magnetic resonance imaging and phosphorus magnetic resonance spectroscopy study in lower limb muscle in dysferlinopathy

    Three‐year quantitative magnetic resonance imaging and phosphorus magnetic resonance spectroscopy study in lower limb muscle in dysferlinopathy oleh Harmen Reyngoudt, Fiona E. Smith, Ericky Caldas de Almeida Araújo, Ian Wilson, Roberto Fernández‐Torrón, Meredith K. James, Ursula R. Moore, Jordi Díaz‐Manera, Benjamin Marty, Noura Azzabou, Heather Gordish, Laura Rufibach, Tim Hodgson, Dorothy Wallace, Louise Ward, Jean‐Marc Boisserie, Julien Le Louër, Heather Hilsden, Helen Sutherland, Aurélie Canal, Jean‐Yves Hogrel, Marni Jacobs, Tanya Stojkovic, Kate Bushby, Anna Mayhew, Jain Clinical Outcome Study for Dysferlinopathy consortium, Volker Straub, Pierre G. Carlier, Andrew M. Blamire

    Diterbitkan 2022-06-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  7. 7
    Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain

    Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain oleh Rafael Sivera, Marina Frasquet, Vincenzo Lupo, Tania García-Sobrino, Patricia Blanco-Arias, Julio Pardo, Roberto Fernández-Torrón, Adolfo López de Munain, Celedonio Márquez-Infante, Liliana Villarreal, Pilar Carbonell, Ricard Rojas-García, Sonia Segovia, Isabel Illa, Anna Lia Frongia, Andrés Nascimento, Carlos Ortez, María del Mar García-Romero, Samuel Ignacio Pascual, Ana Lara Pelayo-Negro, José Berciano, Antonio Guerrero, Carlos Casasnovas, Ana Camacho, Jesús Esteban, María José Chumillas, Marisa Barreiro, Carmen Díaz, Francesc Palau, Juan Jesús Vílchez, Carmen Espinós, Teresa Sevilla

    Diterbitkan 2017-07-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  8. 8
    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-girdle muscle weakness

    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... oleh Katherine Johnson, Marta Bertoli, Lauren Phillips, Ana Töpf, Peter Van den Bergh, John Vissing, Nanna Witting, Shahriar Nafissi, Shirin Jamal-Omidi, Anna Łusakowska, Anna Kostera-Pruszczyk, Anna Potulska-Chromik, Nicolas Deconinck, Carina Wallgren-Pettersson, Sonja Strang-Karlsson, Jaume Colomer, Kristl G. Claeys, Willem De Ridder, Jonathan Baets, Maja von der Hagen, Roberto Fernández-Torrón, Miren Zulaica Ijurco, Juan Bautista Espinal Valencia, Andreas Hahn, Hacer Durmus, Tracey Willis, Liwen Xu, Elise Valkanas, Thomas E. Mullen, Monkol Lek, Daniel G. MacArthur, Volker Straub

    Diterbitkan 2018-07-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  9. 9
    Age- and Sex-Related Differences in Patients With Wild-Type Transthyretin Amyloidosis

    Age- and Sex-Related Differences in Patients With Wild-Type Transthyretin Amyloidosis oleh Nerea Mora-Ayestaran, MD, Angela Dispenzieri, MD, Arnt V. Kristen, MD, Mathew S. Maurer, MD, Igor Diemberger, MD, Brian M. Drachman, MD, Martha Grogan, MD, Pritam Gupta, PhD, Oliver Glass, PhD, Leslie Amass, PhD, Pablo Garcia-Pavia, MD, PhD, Michele Emdin, Mazen Hanna, Olga Azevedo, Calogero Lino Cirami, Jose Gonzalez Costello, David Slosky, Henning Moelgaard, Jose Nativi Nicolau, Scott Hummel, Eun-Seok Jeon, Nowell Fine, Srinivas Murali, Edward Miller, Sanjiv Shah, Ronald Witteles, Marcia Waddington-Cruz, Daniel Lenihan, Yoshiki Sekijima, Johan Van Cleemput, Edileide de Barros Correia, Eve Cariou, Dianna Quan, Miriam Freimer, David Steidley, Anna Hüsing-Kabar, Violaine Plante-Bordeneuve, Hans Nienhuis, Jonas Wixner, Jeffrey Ralph, Hector Ventura, Sasa Zivkovic, Diego Delgado, Roberto Fernandéz Torrón, Stephen Gottlieb, William Cotts, Jose Tallaj, Robert Brunkhorst, Michael Polydefkis, Christopher Mueller, Carsten Tschoepe, Juan Gonzalez Moreno, Nitasha Sarswat, Jin Luo, James Tauras, Alberta Warner

    Diterbitkan 2024-08-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:

Alat Pencarian: