Works by Paradas, Carmen

Results: 32
    1

    Altered mitochondria-associated ER membrane (MAM) function shifts mitochondrial metabolism in amyotrophic lateral sclerosis (ALS).

    Published in:
    Nature Communications, 2025, v. 16, n. 1, p. 1, doi. 10.1038/s41467-024-51578-1
    By:
    • Larrea, Delfina;
    • Tamucci, Kirstin A.;
    • Kabra, Khushbu;
    • Velasco, Kevin R.;
    • Yun, Taekyung D.;
    • Pera, Marta;
    • Montesinos, Jorge;
    • Agrawal, Rishi R.;
    • Paradas, Carmen;
    • Smerdon, John W.;
    • Lowry, Emily R.;
    • Stepanova, Anna;
    • Yoval-Sanchez, Belem;
    • Galkin, Alexander;
    • Wichterle, Hynek;
    • Area-Gomez, Estela
    Publication type:
    Article
    2

    Deep Intronic GBE1 Mutation in Manifesting Heterozygous Patients With Adult Polyglucosan Body Disease.

    Published in:
    JAMA Neurology, 2015, v. 72, n. 4, p. 441, doi. 10.1001/jamaneurol.2014.4496
    By:
    • Akman, H. Orhan;
    • Kakhlon, Or;
    • Coku, Jorida;
    • Peverelli, Lorenzo;
    • Rosenmann, Hanna;
    • Rozenstein-Tsalkovich, Lea;
    • Turnbull, Julie;
    • Meiner, Vardiella;
    • Chama, Liat;
    • Lerer, Israela;
    • Shpitzen, Shoshi;
    • Leitersdorf, Eran;
    • Paradas, Carmen;
    • Wallace, Mary;
    • Schiffmann, Raphael;
    • DiMauro, Salvatore;
    • Lossos, Alexander;
    • Minassian, Berge A.
    Publication type:
    Article
    3

    Branching Enzyme Deficiency.

    Published in:
    JAMA Neurology, 2014, v. 71, n. 1, p. 41, doi. 10.1001/jamaneurol.2013.4888
    By:
    • Paradas, Carmen;
    • Akman, Hasan O.;
    • Ionete, Carolina;
    • Lau, Heather;
    • Riskind, Peter N.;
    • Jones, David E.;
    • Smith, Thomas W.;
    • Hirano, Michio;
    • DiMauro, Salvatore
    Publication type:
    Article
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    6

    Water T2 could predict functional decline in patients with dysferlinopathy.

    Published in:
    Journal of Cachexia, Sarcopenia & Muscle, 2022, v. 13, n. 6, p. 2888, doi. 10.1002/jcsm.13063
    By:
    • Moore, Ursula;
    • Caldas de Almeida Araújo, Ericky;
    • Reyngoudt, Harmen;
    • Gordish‐Dressman, Heather;
    • Smith, Fiona E.;
    • Wilson, Ian;
    • James, Meredith;
    • Mayhew, Anna;
    • Rufibach, Laura;
    • 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
    Publication type:
    Article
    7

    Muscle imaging in laminopathies: Synthesis study identifies meaningful muscles for follow-up.

    Published in:
    2018
    By:
    • GóMez‐Andrés, David;
    • Díaz‐Manera, Jordi;
    • Alejaldre, Aida;
    • Pulido‐Valdeolivas, Irene;
    • GonzáLez‐mera, Laura;
    • Olivé, Montse;
    • Vilchez, Juan José;
    • De Munain, Adolfo LóPez;
    • Paradas, Carmen;
    • Muelas, Nuria;
    • SáNchez‐MontáÑez, Ángel;
    • Alonso‐Jimenez, Alicia;
    • De la banda, Marta Gómez García;
    • Dabaj, Ivana;
    • Bonne, Gisèle;
    • Munell, Francina;
    • Carlier, Robert Y.;
    • Quijano‐Roy, Susana;
    • GóMez-Andrés, David;
    • Díaz-Manera, Jordi
    Publication type:
    journal article
    8

    Lessons learned from a sporadic FUSopathy in a young man: a case report.

    Published in:
    BMC Neurology, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12883-023-03082-0
    By:
    • García-Roldán, Ernesto;
    • Rivas-Infante, Eloy;
    • Medina-Rodríguez, Manuel;
    • Arriola-Infante, José Enrique;
    • Rodrigo-Herrero, Silvia;
    • Paradas, Carmen;
    • Rábano-Gutiérrez, Alberto;
    • Franco-Macías, Emilio
    Publication type:
    Article
    9

    Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP‑mediated disease reveals characteristic features useful for diagnosis.

    Published in:
    2024
    By:
    • Esteller, Diana;
    • Schiava, Marianela;
    • Verdú-Díaz, José;
    • Villar-Quiles, Rocío-Nur;
    • Dibowski, Boris;
    • Venturelli, Nadia;
    • Laforet, Pascal;
    • Alonso-Pérez, Jorge;
    • Olive, Montse;
    • Domínguez-González, Cristina;
    • Paradas, Carmen;
    • Vélez, Beatriz;
    • Kostera-Pruszczyk, Anna;
    • Kierdaszuk, Biruta;
    • Rodolico, Carmelo;
    • Claeys, Kristl;
    • Pál, Endre;
    • Malfatti, Edoardo;
    • Souvannanorath, Sarah;
    • Alonso-Jiménez, Alicia
    Publication type:
    Correction Notice
    10

    Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis.

    Published in:
    Journal of Neurology, 2023, v. 270, n. 12, p. 5849, doi. 10.1007/s00415-023-11862-4
    By:
    • Esteller, Diana;
    • Schiava, Marianela;
    • Villar-Quiles, Rocío-Nur;
    • Dibowski, Boris;
    • Venturelli, Nadia;
    • Laforet, Pascal;
    • Alonso-Pérez, Jorge;
    • Olive, Montse;
    • Domínguez-González, Cristina;
    • Paradas, Carmen;
    • Vélez, Beatriz;
    • Kostera-Pruszczyk, Anna;
    • Kierdaszuk, Biruta;
    • Rodolico, Carmelo;
    • Claeys, Kristl;
    • Pál, Endre;
    • Malfatti, Edoardo;
    • Souvannanorath, Sarah;
    • Alonso-Jiménez, Alicia;
    • de Ridder, Willem
    Publication type:
    Article
    11

    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
    12
    13

    Characterizing SOD1 mutations in Spain: The impact of genotype, age and sex in the natural history of the disease.

    Published in:
    European Journal of Neurology, 2023, v. 30, n. 4, p. 861, doi. 10.1111/ene.15661
    By:
    • Vázquez‐Costa, Juan F.;
    • Borrego‐Hernández, Daniel;
    • Paradas, Carmen;
    • Gómez‐Caravaca, María Teresa;
    • Rojas‐Garcia, Ricardo;
    • Varona, Luis;
    • Povedano, Mónica;
    • García‐Sobrino, Tania;
    • Jericó Pascual, Ivonne;
    • Gutiérrez, Antonio;
    • Riancho, Javier;
    • Turon‐Sans, Janina;
    • Assialioui, Abdelilah;
    • Pérez‐Tur, Jordi;
    • Sevilla, Teresa;
    • Esteban Pérez, Jesús;
    • García‐Redondo, Alberto;
    • López, Alberto Andrés;
    • Calabria, M. Dolores;
    • Díaz‐Marín, Carmen
    Publication type:
    Article
    14

    Charcot–Marie–Tooth disease due to MORC2 mutations in Spain.

    Published in:
    European Journal of Neurology, 2021, v. 28, n. 9, p. 3001, doi. 10.1111/ene.15001
    By:
    • Sivera, Rafael;
    • Lupo, Vincenzo;
    • Frasquet, Marina;
    • Argente‐Escrig, Herminia;
    • Alonso‐Pérez, Jorge;
    • Díaz‐Manera, Jordi;
    • Querol, Luis;
    • del Mar García‐Romero, María;
    • Ignacio Pascual, Samuel;
    • García‐Sobrino, Tania;
    • Paradas, Carmen;
    • Francisco Vázquez‐Costa, Juan;
    • Muelas, Nuria;
    • Millet, Elvira;
    • Jesús Vílchez, Juan;
    • Espinós, Carmen;
    • Sevilla, Teresa
    Publication type:
    Article
    15

    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
    16
    17

    Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy.

    Published in:
    2012
    By:
    • Juan-Mateu, Jonàs;
    • Rodríguez, Maria José;
    • Nascimento, Andrés;
    • Jiménez-Mallebrera, Cecilia;
    • González-Quereda, Lidia;
    • Rivas, Eloy;
    • Paradas, Carmen;
    • Madruga, Marcos;
    • Sánchez-Ayaso, Pedro;
    • Jou, Cristina;
    • González-Mera, Laura;
    • Munell, Francina;
    • Roig-Quilis, Manuel;
    • Rabasa, Maria;
    • Hernández-Lain, Aurelio;
    • Díaz-Manera, Jorge;
    • Gallardo, Eduard;
    • Pascual, Jordi;
    • Verdura, Edgard;
    • Colomer, Jaume
    Publication type:
    journal article
    18

    Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy.

    Published in:
    Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 82, doi. 10.1186/1750-1172-7-82
    By:
    • Juan-Mateu, Jonàs;
    • Rodríguez, Maria José;
    • Nascimento, Andrés;
    • Jiménez-Mallebrera, Celilia;
    • González-Quereda, Lidia;
    • Rivas, Eloy;
    • Paradas, Carmen;
    • Madruga, Marcos;
    • Sánchez-Ayaso, Pedro;
    • Jou, Cristina;
    • González-Mera, Jorge;
    • Munell, Francina;
    • Roig-Quilis, Manuel;
    • Rabasa, Maria;
    • Hernández-Lain, Aurelio;
    • Díaz-Manera, Jorge;
    • Gallardo, Eduard;
    • Pascual, Jordi;
    • Verdura, Edgard;
    • Colomer, Jaume
    Publication type:
    Article
    19
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    Decoding the muscle transcriptome of patients with late-onset Pompe disease reveals markers of disease progression.

    Published in:
    Brain: A Journal of Neurology, 2024, v. 147, n. 12, p. 4213, doi. 10.1093/brain/awae249
    By:
    • Monceau, Alexandra;
    • Nath, Rasya Gokul;
    • Suárez-Calvet, Xavier;
    • Musumeci, Olimpia;
    • Toscano, Antonio;
    • Kierdaszuk, Biruta;
    • Kostera-Pruszczyk, Anna;
    • Domínguez-González, Cristina;
    • Hernández-Lain, Aurelio;
    • Paradas, Carmen;
    • Rivas, Eloy;
    • Papadimas, George;
    • Papadopoulos, Constantinos;
    • Chrysanthou-Piterou, Margarita;
    • Gallardo, Eduard;
    • Olivé, Montse;
    • Lilleker, James;
    • Roberts, Mark E;
    • Marchese, Domenica;
    • Lunazzi, Giulia
    Publication type:
    Article
    22

    Ablation of the carboxy-terminal end of MAMDC2 causes a distinct muscular dystrophy.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 12, p. 5235, doi. 10.1093/brain/awad256
    By:
    • Mavillard, Fabiola;
    • Servian-Morilla, Emilia;
    • Dofash, Lein;
    • Rojas-Marcos, Iñigo;
    • Folland, Chiara;
    • Monahan, Gavin;
    • Gutierrez-Gutierrez, Gerardo;
    • Rivas, Eloy;
    • Hernández-Lain, Aurelio;
    • Valladares, Amador;
    • Cantero, Gloria;
    • Morales, Jose M;
    • Laing, Nigel G;
    • Paradas, Carmen;
    • Ravenscroft, Gianina;
    • Cabrera-Serrano, Macarena
    Publication type:
    Article
    23

    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
    24

    NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay.

    Published in:
    Annals of Clinical & Translational Neurology, 2019, v. 6, n. 11, p. 2328, doi. 10.1002/acn3.50910
    By:
    • Mavillard, Fabiola;
    • Madruga‐Garrido, Marcos;
    • Rivas, Eloy;
    • Servián‐Morilla, Emilia;
    • Ávila‐Polo, Rainiero;
    • Marcos, Irene;
    • Morón, Francisco J.;
    • Paradas, Carmen;
    • Cabrera‐Serrano, Macarena
    Publication type:
    Article
    25

    Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy.

    Published in:
    Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-66940-8
    By:
    • Dominguez-Gonzalez, Cristina;
    • Badosa, Carmen;
    • Madruga-Garrido, Marcos;
    • Martí, Itxaso;
    • Paradas, Carmen;
    • Ortez, Carlos;
    • Diaz-Manera, Jordi;
    • Berardo, Andres;
    • Alonso-Pérez, Jorge;
    • Trifunov, Selena;
    • Cuadras, Daniel;
    • Kalko, Susana G.;
    • Blázquez-Bermejo, Cora;
    • Cámara, Yolanda;
    • Martí, Ramon;
    • Mavillard, Fabiola;
    • Martin, Miguel A.;
    • Montoya, Julio;
    • Ruiz-Pesini, Eduardo;
    • Villarroya, Joan
    Publication type:
    Article
    26

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

    Published in:
    Frontiers in Neurology, 2020, v. 11, p. N.PAG, doi. 10.3389/fneur.2020.613446
    By:
    • 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
    Publication type:
    Article
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    Long-term outcome in chronic inflammatory demyelinating polyneuropathy patients treated with intravenous immunoglobulin: A retrospective study.

    Published in:
    Muscle & Nerve, 2013, v. 48, n. 6, p. 870, doi. 10.1002/mus.23843
    By:
    • Querol, Luis;
    • Rojas‐Garcia, Ricard;
    • Casasnovas, Carlos;
    • Sedano, Maria Jose;
    • Muñoz‐Blanco, Jose Luis;
    • Alberti, Maria Antonia;
    • Paradas, Carmen;
    • Sevilla, Teresa;
    • Pardo, Julio;
    • Capablo, Jose Luis;
    • Sivera, Rafael;
    • Guerrero, Antonio;
    • Gutierrez‐Rivas, Eduardo;
    • Illa, Isabel
    Publication type:
    Article
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