Zobrazeno 1 - 10
of 83
pro vyhledávání: '"Gisela Nogales"'
Autor:
Judit Núñez-Manchón, Júlia Capó, Alicia Martínez-Piñeiro, Eduard Juanola, Jovan Pesovic, Laura Mosqueira-Martín, Klaudia González-Imaz, Pau Maestre-Mora, Renato Odria, Estefania Cerro-Herreros, Neia Naldaiz-Gastesi, Adolfo López de Munain, Rubén Artero, Dusanka Savic-Pavicevic, Ainara Vallejo-Illarramendi, Kamel Mamchaoui, Anne Bigot, Vincent Mouly, Mònica Suelves, Gisela Nogales-Gadea
Publikováno v:
iScience, Vol 27, Iss 12, Pp 111499- (2024)
Externí odkaz:
https://doaj.org/article/dfc374e49d274f9e8fc55021794bba87
Autor:
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
Publikováno v:
JCI Insight, Vol 7, Iss 19 (2022)
Myotonic dystrophy type 1 (DM1; MIM #160900) is an autosomal dominant disorder, clinically characterized by progressive muscular weakness and multisystem degeneration. The broad phenotypes observed in patients with DM1 resemble the appearance of an a
Externí odkaz:
https://doaj.org/article/21e2c0c19010444fa4506a0c73f02c75
Autor:
Eduardo Salazar-Martínez, Alfredo Santalla, Pedro L. Valenzuela, Gisela Nogales-Gadea, Tomàs Pinós, María Morán, Alejandro Santos-Lozano, Carmen Fiuza-Luces, Alejandro Lucia
Publikováno v:
Frontiers in Physiology, Vol 12 (2021)
Background: The “second wind” (SW) phenomenon—commonly referring to both an initial period of marked intolerance to dynamic exercise (e.g., brisk walking) that is not followed by perceived improvement and disappearance of previous tachycardia (
Externí odkaz:
https://doaj.org/article/916e603d124a47a9a41560072c24ab0d
Autor:
Emma Koehorst, Renato Odria, Júlia Capó, Judit Núñez-Manchón, Andrea Arbex, Miriam Almendrote, Ian Linares-Pardo, Daniel Natera-de Benito, Verónica Saez, Andrés Nascimento, Carlos Ortez, Miguel Ángel Rubio, Jordi Díaz-Manera, Jorge Alonso-Pérez, Giuseppe Lucente, Agustín Rodriguez-Palmero, Alba Ramos-Fransi, Alicia Martínez-Piñeiro, Gisela Nogales-Gadea, Mònica Suelves
Publikováno v:
Biomedicines, Vol 10, Iss 6, p 1372 (2022)
Myotonic dystrophy type 1 (DM1) is a progressive, non-treatable, multi-systemic disorder. To investigate the contribution of epigenetics to the complexity of DM1, we compared DNA methylation profiles of four annotated CpG islands (CpGis) in the DMPK
Externí odkaz:
https://doaj.org/article/b576b232a7bf4442838513ca2c248aa2
Autor:
Alfredo Santalla, Gisela Nogales-Gadea, Alberto Blázquez Encinar, Irene Vieitez, Adrian González-Quintana, Pablo Serrano-Lorenzo, Inés García Consuegra, Sara Asensio, Alfonsina Ballester-Lopez, Guillem Pintos-Morell, Jaume Coll-Cantí, Helios Pareja-Galeano, Jorge Díez-Bermejo, Margarita Pérez, Antoni L. Andreu, Tomàs Pinós, Joaquín Arenas, Miguel A. Martín, Alejandro Lucia
Publikováno v:
BMC Genomics, Vol 18, Iss S8, Pp 39-47 (2017)
Abstract Background We recently described the genotype/phenotype features of all Spanish patients diagnosed with McArdle disease as of January 2011 (n = 239, prevalence of ~1/167,000) (J Neurol Neurosurg Psychiatry 2012;83:322–8). Several caveats w
Externí odkaz:
https://doaj.org/article/59b83f2c1ec94ef6ac54173fb34c8252
Autor:
Caroline Godfrey, Lourdes R Desviat, Bård Smedsrød, France Piétri‐Rouxel, Michela A Denti, Petra Disterer, Stéphanie Lorain, Gisela Nogales‐Gadea, Valentina Sardone, Rayan Anwar, Samir EL Andaloussi, Taavi Lehto, Bernard Khoo, Camilla Brolin, Willeke MC van Roon‐Mom, Aurélie Goyenvalle, Annemieke Aartsma‐Rus, Virginia Arechavala‐Gomeza
Publikováno v:
EMBO Molecular Medicine, Vol 9, Iss 5, Pp 545-557 (2017)
Abstract The use of splice‐switching antisense therapy is highly promising, with a wealth of pre‐clinical data and numerous clinical trials ongoing. Nevertheless, its potential to treat a variety of disorders has yet to be realized. The main obst
Externí odkaz:
https://doaj.org/article/dc24c7db81c9430cadef6dc5077b7915
Autor:
Tertius Abraham Kohn, Timothy David Noakes, Dale Elizabeth Rae, Juan Carlos Rubio, Alfredo Santalla, Gisela Nogales-Gadea, Tomas Pinós, Miguel A. Martín, Joaquin Arenas, Alejandro Lucia
Publikováno v:
Biology Open, Vol 3, Iss 12, Pp 1224-1227 (2014)
Patients suffering from glycogen storage disease V (McArdle disease) were shown to have higher surface electrical activity in their skeletal muscles when exercising at the same intensity as their healthy counterparts, indicating more muscle fibre rec
Externí odkaz:
https://doaj.org/article/07c1ce30caa147ad9fbaa4f6b508a307
Autor:
Gisela Nogales-Gadea, Alba Ramos-Fransi, Xavier Suárez-Calvet, Miquel Navas, Ricard Rojas-García, Jose Luis Mosquera, Jordi Díaz-Manera, Luis Querol, Eduard Gallardo, Isabel Illa
Publikováno v:
PLoS ONE, Vol 9, Iss 3, p e91927 (2014)
Myasthenia gravis (MG) is an autoimmune disease characterized by the presence of autoantibodies, mainly against the acetylcholine receptor (AChR). The mechanisms triggering and maintaining this chronic disease are unknown. MiRNAs are regulatory molec
Externí odkaz:
https://doaj.org/article/680a1d439c5c465e996a66ad2745698b
Autor:
Gisela Nogales-Gadea, Inés Consuegra-García, Juan C Rubio, Joaquin Arenas, Marc Cuadros, Yolanda Camara, Javier Torres-Torronteras, Carmen Fiuza-Luces, Alejandro Lucia, Miguel A Martín, Elena García-Arumí, Antoni L Andreu
Publikováno v:
PLoS ONE, Vol 7, Iss 2, p e31718 (2012)
McArdle disease is caused by lack of glycogen phosphorylase (GP) activity in skeletal muscle. Patients experience exercise intolerance, presenting as early fatigue and contractures. In this study, we investigated the effects produced by a lack of GP
Externí odkaz:
https://doaj.org/article/d02f9b119679451f86af8b382c5ba920
Autor:
Gisela Nogales-Gadea, Emma Mormeneo, Inés García-Consuegra, Juan C Rubio, Anna Orozco, Joaquin Arenas, Miguel A Martín, Alejandro Lucia, Anna M Gómez-Foix, Ramon Martí, Antoni L Andreu
Publikováno v:
PLoS ONE, Vol 5, Iss 10, p e1000938 (2010)
BACKGROUND: Mutations in the PYGM gene encoding skeletal muscle glycogen phosphorylase (GP) cause a metabolic disorder known as McArdle's disease. Previous studies in muscle biopsies and cultured muscle cells from McArdle patients have shown that PYG
Externí odkaz:
https://doaj.org/article/b66c041dcd8e453099c437bad3f7edb6