Found: 13

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  • Myotilinopathy unmasked by statin treatment: A case report.

    Published in:
    2018
    By:
    • Ramos‐Fransi, Alba;
    • Martínez‐Piñeiro, Alicia;
    • Almendrote, Míriam;
    • Lucente, Giuseppe;
    • Carrato, Cristina;
    • Ballester‐Lopez, Alfonsina;
    • Lucia, Alejandro;
    • Pintos‐Morell, Guillem;
    • Nogales‐Gadea, Gisela;
    • Coll‐Cantí, Jaume;
    • Ramos-Fransi, Alba;
    • Martínez-Piñeiro, Alicia;
    • Ballester-Lopez, Alfonsina;
    • Pintos-Morell, Guillem;
    • Nogales-Gadea, Gisela;
    • Coll-Cantí, Jaume
    Publication type:
    journal article

  • Severe exacerbation of Andersen-Tawil syndrome secondary to thyrotoxicosis.

    Published in:
    Journal of Human Genetics, 2014, v. 59, n. 8, p. 465, doi. 10.1038/jhg.2014.43
    By:
    • Díaz-Manera, Jordi;
    • Querol, Luis;
    • Alejaldre, Aída;
    • Rojas-García, Ricard;
    • Ramos-Fransi, Alba;
    • Gallardo, Eduard;
    • Illa, Isabel
    Publication type:
    Article

  • Drug‐refractory myasthenia gravis: Clinical characteristics, treatments, and outcome.

    Published in:
    Annals of Clinical & Translational Neurology, 2022, v. 9, n. 2, p. 122, doi. 10.1002/acn3.51492
    By:
    • Cortés‐Vicente, Elena;
    • Álvarez‐Velasco, Rodrigo;
    • Pla‐Junca, Francesc;
    • Rojas‐Garcia, Ricard;
    • Paradas, Carmen;
    • Sevilla, Teresa;
    • Casasnovas, Carlos;
    • Gómez‐Caravaca, María Teresa;
    • Pardo, Julio;
    • Ramos‐Fransi, Alba;
    • Pelayo‐Negro, Ana Lara;
    • Gutiérrez‐Gutiérrez, Gerardo;
    • Turon‐Sans, Janina;
    • López de Munain, Adolfo;
    • Guerrero‐Sola, Antonio;
    • Jericó, Ivonne;
    • Martín, María Asunción;
    • Mendoza, María Dolores;
    • Morís, Germán;
    • Vélez‐Gómez, Beatriz
    Publication type:
    Article

  • Preliminary Findings on CTG Expansion Determination in Different Tissues from Patients with Myotonic Dystrophy Type 1.

    Published in:
    Genes, 2020, v. 11, n. 11, p. 1321, doi. 10.3390/genes11111321
    By:
    • Ballester-Lopez, Alfonsina;
    • Koehorst, Emma;
    • Linares-Pardo, Ian;
    • Núñez-Manchón, Judit;
    • Almendrote, Miriam;
    • Lucente, Giuseppe;
    • Arbex, Andrea;
    • Alonso, Carles Puente;
    • Lucia, Alejandro;
    • Monckton, Darren G.;
    • Cumming, Sarah A.;
    • Pintos-Morell, Guillem;
    • Coll-Cantí, Jaume;
    • Ramos-Fransi, Alba;
    • Martínez-Piñeiro, Alicia;
    • Nogales-Gadea, Gisela
    Publication type:
    Article

  • The Need for Establishing a Universal CTG Sizing Method in Myotonic Dystrophy Type 1.

    Published in:
    Genes, 2020, v. 11, n. 7, p. 757, doi. 10.3390/genes11070757
    By:
    • Ballester-Lopez, Alfonsina;
    • Linares-Pardo, Ian;
    • Koehorst, Emma;
    • Núñez-Manchón, Judit;
    • Pintos-Morell, Guillem;
    • Coll-Cantí, Jaume;
    • Almendrote, Miriam;
    • Lucente, Giuseppe;
    • Arbex, Andrea;
    • Magaña, Jonathan J.;
    • Murillo-Melo, Nadia M.;
    • Lucia, Alejandro;
    • Monckton, Darren G.;
    • Cumming, Sarah A.;
    • Ramos-Fransi, Alba;
    • Martínez-Piñeiro, Alicia;
    • Nogales-Gadea, Gisela
    Publication type:
    Article

  • Analysis of Serum miRNA Profiles of Myasthenia Gravis Patients.

    Published in:
    PLoS ONE, 2014, v. 9, n. 3, p. 1, doi. 10.1371/journal.pone.0091927
    By:
    • Nogales-Gadea, Gisela;
    • Ramos-Fransi, Alba;
    • Suárez-Calvet, Xavier;
    • Navas, Miquel;
    • Rojas-García, Ricard;
    • Mosquera, Jose Luis;
    • Díaz-Manera, Jordi;
    • Querol, Luis;
    • Gallardo, Eduard;
    • Illa, Isabel
    Publication type:
    Article

  • Correction to: Manifesting heterozygotes in McArdle disease: a myth or a reality‐role of statins.

    Published in:
    Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1295, doi. 10.1007/s10545-018-0236-6
    By:
    • Núñez‐Manchón, Judit;
    • Ballester‐Lopez, Alfonsina;
    • Koehorst, Emma;
    • Linares‐Pardo, Ian;
    • Coenen, Daniëlle;
    • Ara, Ignacio;
    • Rodriguez‐Lopez, Carlos;
    • Ramos‐Fransi, Alba;
    • Martínez‐Piñeiro, Alicia;
    • Lucente, Giuseppe;
    • Almendrote, Miriam;
    • Coll‐Cantí, Jaume;
    • Pintos‐Morell, Guillem;
    • Santos‐Lozano, Alejandro;
    • Arenas, Joaquin;
    • Martín, Miguel Angel;
    • de Castro, Mauricio;
    • Lucia, Alejandro;
    • Santalla, Alfredo;
    • Nogales‐Gadea, Gisela
    Publication type:
    Article

  • Manifesting heterozygotes in McArdle disease: a myth or a reality—role of statins.

    Published in:
    Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1027, doi. 10.1007/s10545-018-0203-2
    By:
    • Núñez‐Manchón, Judit;
    • Ballester‐Lopez, Alfonsina;
    • Koehorst, Emma;
    • Linares‐Pardo, Ian;
    • Coenen, Daniëlle;
    • Ara, Ignacio;
    • Rodriguez‐Lopez, Carlos;
    • Ramos‐Fransi, Alba;
    • Martínez‐Piñeiro, Alicia;
    • Lucente, Giuseppe;
    • Almendrote, Miriam;
    • Coll‐Cantí, Jaume;
    • Pintos‐Morell, Guillem;
    • Santos‐Lozano, Alejandro;
    • Arenas, Joaquin;
    • Martín, Miguel Angel;
    • de Castro, Mauricio;
    • Lucia, Alejandro;
    • Santalla, Alfredo;
    • Nogales‐Gadea, Gisela
    Publication type:
    Article

  • Correction to: Manifesting heterozygotes in McArdle disease: a myth or a reality-role of statins.

    Published in:
    Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1295, doi. 10.1007/s10545-018-0236-6
    By:
    • Núñez-Manchón, Judit;
    • Ballester-Lopez, Alfonsina;
    • Koehorst, Emma;
    • Linares-Pardo, Ian;
    • Coenen, Daniëlle;
    • Ara, Ignacio;
    • Rodriguez-Lopez, Carlos;
    • Ramos-Fransi, Alba;
    • Martínez-Piñeiro, Alicia;
    • Lucente, Giuseppe;
    • Almendrote, Miriam;
    • Coll-Cantí, Jaume;
    • Pintos-Morell, Guillem;
    • Santos-Lozano, Alejandro;
    • Arenas, Joaquin;
    • Martín, Miguel Angel;
    • de Castro, Mauricio;
    • Lucia, Alejandro;
    • Santalla, Alfredo;
    • Nogales-Gadea, Gisela
    Publication type:
    Article

  • Manifesting heterozygotes in McArdle disease: a myth or a reality—role of statins.

    Published in:
    Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1027, doi. 10.1007/s10545-018-0203-2
    By:
    • Núñez-Manchón, Judit;
    • Ballester-Lopez, Alfonsina;
    • Koehorst, Emma;
    • Linares-Pardo, Ian;
    • Coenen, Daniëlle;
    • Ara, Ignacio;
    • Rodriguez-Lopez, Carlos;
    • Ramos-Fransi, Alba;
    • Martínez-Piñeiro, Alicia;
    • Lucente, Giuseppe;
    • Almendrote, Miriam;
    • Coll-Cantí, Jaume;
    • Pintos-Morell, Guillem;
    • Santos-Lozano, Alejandro;
    • Arenas, Joaquin;
    • Martín, Miguel Angel;
    • de Castro, Mauricio;
    • Lucia, Alejandro;
    • Santalla, Alfredo;
    • Nogales-Gadea, Gisela
    Publication type:
    Article

  • An Integrative Analysis of DNA Methylation Pattern in Myotonic Dystrophy Type 1 Samples Reveals a Distinct DNA Methylation Profile between Tissues and a Novel Muscle-Associated Epigenetic Dysregulation.

    Published in:
    Biomedicines, 2022, v. 10, n. 6, p. 1372, doi. 10.3390/biomedicines10061372
    By:
    • Koehorst, Emma;
    • Odria, Renato;
    • Capó, Júlia;
    • Núñez-Manchón, Judit;
    • Arbex, Andrea;
    • Almendrote, Miriam;
    • Linares-Pardo, Ian;
    • Natera-de Benito, Daniel;
    • Saez, Verónica;
    • Nascimento, Andrés;
    • Ortez, Carlos;
    • Rubio, Miguel Ángel;
    • Díaz-Manera, Jordi;
    • Alonso-Pérez, Jorge;
    • Lucente, Giuseppe;
    • Rodriguez-Palmero, Agustín;
    • Ramos-Fransi, Alba;
    • Martínez-Piñeiro, Alicia;
    • Nogales-Gadea, Gisela;
    • Suelves, Mònica
    Publication type:
    Article

  • Characterization of RAN Translation and Antisense Transcription in Primary Cell Cultures of Patients with Myotonic Dystrophy Type 1.

    Published in:
    Journal of Clinical Medicine, 2021, v. 10, n. 23, p. 5520, doi. 10.3390/jcm10235520
    By:
    • Koehorst, Emma;
    • Núñez-Manchón, Judit;
    • Ballester-López, Alfonsina;
    • Almendrote, Miriam;
    • Lucente, Giuseppe;
    • Arbex, Andrea;
    • Chojnacki, Jakub;
    • Vázquez-Manrique, Rafael P.;
    • Gómez-Escribano, Ana Pilar;
    • Pintos-Morell, Guillem;
    • Coll-Cantí, Jaume;
    • Ramos-Fransi, Alba;
    • Martínez-Piñeiro, Alicia;
    • Suelves, Mònica;
    • Nogales-Gadea, Gisela
    Publication type:
    Article

  • Clinical characteristics and outcomes of thymoma‐associated myasthenia gravis.

    Published in:
    European Journal of Neurology, 2021, v. 28, n. 6, p. 2083, doi. 10.1111/ene.14820
    By:
    • Álvarez‐Velasco, Rodrigo;
    • Gutiérrez‐Gutiérrez, Gerardo;
    • Trujillo, Juan Carlos;
    • Martínez, Elisabeth;
    • Segovia, Sonia;
    • Arribas‐Velasco, Marina;
    • Fernández, Guillermo;
    • Paradas, Carmen;
    • Vélez‐Gómez, Beatriz;
    • Casasnovas, Carlos;
    • Nedkova, Velina;
    • Guerrero‐Sola, Antonio;
    • Ramos‐Fransi, Alba;
    • Martínez‐Piñeiro, Alicia;
    • Pardo, Julio;
    • Sevilla, Teresa;
    • Gómez‐Caravaca, María Teresa;
    • López de Munain, Adolfo;
    • Jericó, Ivonne;
    • Pelayo‐Negro, Ana L.
    Publication type:
    Article