Resultats globals: 15 registres trobats en 0.01 segons.
Articles, 15 registres trobats
Articles 15 registres trobats  1 - 10següent  anar al registre:
1.
9 p, 496.9 KB Sex Differences in the Association between Risk of Anterior Cruciate Ligament Rupture and COL5A1 Polymorphisms in Elite Footballers / Rodas, Gil (Hospital Sant Joan de Déu (Manresa)) ; Cáceres, Alejandro (Universitat Politècnica de Catalunya. Departament de Matemàtiques) ; Ferrer, Eva (Hospital Sant Joan de Déu (Manresa)) ; Balagué-Dobón, Laura (Barcelona Institute for Global Health (ISGlobal)) ; Osaba, Lourdes (Progenika Biopharma) ; Lucia, Alejandro (Hospital 12 de Octubre. Instituto de Investigación Sanitaria) ; González, Juan Ramón (Universitat Autònoma de Barcelona. Departament de Matemàtiques)
Background: Single-nucleotide polymorphisms (SNPs) in collagen genes are predisposing factors for anterior cruciate ligament (ACL) rupture. Although these events are more frequent in females, the sex-specific risk of reported SNPs has not been evaluated. [...]
2023 - 10.3390/genes14010033
Genes, Vol. 14, Issue 1 (January 2023) , art. 33  
2.
8 p, 618.0 KB A Transcriptomic Approach to Search for Novel Phenotypic Regulators in McArdle Disease / Nogales, Gisela (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Consuegra-García, Inés (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Rubio, Juan C. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Arenas, Joaquín (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Cuadros, Marc (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Cámara, Yolanda (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Torres-Torronteras, Javier (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Fiuza-Luces, Carmen (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Lucia, Alejandro (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Martín, Miguel A. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Garcia-Arumi, Elena (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Andreu Périz, Antoni Lluís (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Universitat Autònoma de Barcelona
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 on several genes and proteins of skeletal muscle in McArdle patients. [...]
2012 - 10.1371/journal.pone.0031718
PloS one, Vol. 7 (february 2012)  
3.
9 p, 279.8 KB Genotypic and phenotypic features of all Spanish patients with McArdle disease : a 2016 update / Santalla, Alfredo (Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12)) ; Nogales, Gisela (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Encinar, Alberto Blázquez (Hospital Universitario 12 de Octubre (Madrid)) ; Vieitez, Irene (Hospitalario Universitario de Vigo) ; González-Quintana, Adrian (Instituto de Salud Carlos III) ; Serrano-Lorenzo, Pablo (Instituto de Salud Carlos III) ; Consuegra-García, Inés (Hospital Universitario 12 de Octubre (Madrid)) ; Asensio, Sara (Instituto de Salud Carlos III) ; Ballester-Lopez, Alfonsina (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Pintos-Morell, Guillem (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Coll-Cantí, Jaume (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Pareja-Galeano, Helios (Universidad Europea de Madrid) ; Díez-Bermejo, Jorge (Universidad Europea de Madrid) ; Pérez Ruiz, Margarita (Universidad Europea de Madrid) ; Andreu Périz, Antoni Lluís (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Pinós Figueras, Tomàs (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Arenas, Joaquín (Instituto de Salud Carlos III) ; Martín, Miguel A. (Hospital Universitario 12 de Octubre (Madrid)) ; Lucia, Alejandro (Universidad Europea de Madrid)
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). [...]
2017 - 10.1186/s12864-017-4188-2
BMC genomics, Vol. 18 (november 2017)  
4.
12 p, 5.8 MB Absence of p.R50X Pygm read-through in McArdle disease cellular models / Tarrasó, Guillermo (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Real-Martinez, Alberto (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Parés, Marta (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Romero-Cortadellas, Lídia (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Puigros, Laura (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Moya Borrego, Laura (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; de Luna Salva, Noemí (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Brull, Astrid (Sorbonne Université, INSERM UMRS_974, Center of Research in Myology) ; Martín, Miguel Angel (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Arenas, Joaquín (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Lucia, Alejandro (European University) ; Andreu Périz, Antoni Lluís (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Barquinero, Jordi (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Vissing, John (Copenhagen University Hospital Rigshospitalet) ; Krag, Thomas (Copenhagen University Hospital Rigshospitalet) ; Pinós Figueras, Tomàs (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Universitat Autònoma de Barcelona
McArdle disease is an autosomal recessive disorder caused by the absence of muscle glycogen phosphorylase, which leads to blocked muscle glycogen breakdown. We used three different cellular models to evaluate the efficiency of different read-through agents (including amlexanox, Ataluren, RTC13 and G418) in McArdle disease. [...]
2020 - 10.1242/dmm.043281
Disease Models & Mechanisms, Vol. 13 (january 2020)  
5.
8 p, 1.1 MB Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC) / Scalco, Renata S. (National Hospital (Regne Unit)) ; Lucia, Alejandro (Universidad Europea de Madrid) ; Santalla, Alfredo (Universidad Pablo de Olavide) ; Martinuzzi, Andrea (IRCCS Medea Scientific Insitute (Itàlia)) ; Vavla, Marinela (IRCCS Medea Scientific Insitute (Itàlia)) ; Reni, Gianluigi (IRCCS Medea Scientific Insitute (Itàlia)) ; Toscano, Antonio (University of Messinae) ; Musumeci, Olimpia (University of Messina) ; Voermans, Nicol C. (Radboud University Medical Center) ; Kouwenberg, Carlyn V. (Radboud University Medical Center) ; Laforêt, Pascal (Paris Saclay University) ; San-Millán, Beatriz (Instituto de Investigación Sanitaria Galicia Sur) ; Vieitez, Irene (Instituto de Investigación Sanitaria Galicia Sur) ; Siciliano, Gabriele (University of Pisa) ; Kühnle, Enrico (University Hospital Bochum) ; Trost, Rebeca (University Hospital Bochum) ; Sacconi, Sabrina (Université Côte D'Azur) ; Stemmerik, Mads G. (Copenhagen University Hospital Rigshospitalet) ; Durmus, Hacer (Istanbul University) ; Kierdaszuk, Biruta (Medical University of Warsaw) ; Wakelin, Andrew (Association for Glycogen Storage Disease (Regne Unit)) ; Andreu Périz, Antoni Lluís (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Pinós Figueras, Tomàs (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Martí, Ramon A (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Quinlivan, Ros (National Hospital (Regne Unit)) ; Vissing, John (Copenhagen University Hospital Rigshospitalet) ; Universitat Autònoma de Barcelona
The European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC) was launched to register rare muscle glycogenoses in Europe, to facilitate recruitment for research trials and to learn about the phenotypes and disseminate knowledge about the diseases through workshops and websites. [...]
2020 - 10.1186/s13023-020-01562-x
Orphanet Journal of Rare Diseases, Vol. 15 (november 2020)  
6.
8 p, 946.1 KB Preliminary Findings on CTG Expansion Determination in Different Tissues from Patients with Myotonic Dystrophy Type 1 / Ballester-Lopez, Alfonsina (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Koehorst, Emma (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Linares-Pardo, Ian (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Núñez-Manchón, Judit (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Almendrote, Míriam (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Lucente, Giuseppe (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Arbex, Andrea (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Puente-Alonso, Carles (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Lucia, Alejandro (Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12)) ; Monckton, Darren G. (Institute of Molecular, Cell and Systems Biology, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, UK) ; Cumming, Sarah A. (Institute of Molecular, Cell and Systems Biology, College of Medical, Veterinary and Life Sciences, University of Glasgow, UK) ; Pintos-Morell, Guillem (Hospital Universitari Vall d'Hebron) ; Coll-Cantí, Jaume (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Ramos-Fransi, Alba (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Martínez-Piñeiro, Alicia (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Nogales, Gisela (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Universitat Autònoma de Barcelona. Departament de Medicina
Myotonic Dystrophy type 1 (DM1) is characterized by a high genetic and clinical variability. Determination of the genetic variability in DM1 might help to determine whether there is an association between CTG (Cytosine-Thymine-Guanine) expansion and the clinical manifestations of this condition. [...]
2020 - 10.3390/genes11111321
Genes, Vol. 11 (november 2020)  
7.
11 p, 563.5 KB Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry) / Pinós Figueras, Tomàs (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Andreu Périz, Antoni Lluís (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Bruno, Claudio (IRCCS Istituto Giannina Gaslini) ; Hadjigeorgiou, Georgios M. (University of Thessaly) ; Haller, Ronald G. (Institute for Exercise and Environmental Medicine of Texas Health Presbyterian Hospital) ; Laforêt, Pascal (Paris Saclay University) ; Lucia, Alejandro (Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12)) ; Martín, Miguel A. (Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12)) ; Martinuzzi, Andrea (IRCCS Eugenio Medea-Associazione "La Nostra Famiglia" Scientific Institute) ; Navarro Villanueva, Carmen (Instituto de Investigación Biomédica de Vigo) ; Oflazer, Piraye (Istanbul University) ; Pouget, Jean (Assistance Publique-Hopitaux de Marseille) ; Quinlivan, Ros (UCL Institute of Neurology, National Hospital) ; Sacconi, Sabrina (University of Nice) ; Scalco, Renata S. (UCL Institute of Neurology (Regne Unit)) ; Toscano, Antonio (University of Messina) ; Vissing, John (Copenhagen University Hospital Rigshospitalet) ; Vorgerd, Matthias (University Hospital Bergmannsheil Bochum) ; Wakelin, Andrew (Association for Glycogen storage Disease (Regne Unit)) ; Martí, Ramon A. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Universitat Autònoma de Barcelona
International patient registries are of particular importance for rare disorders, as they may contribute to overcome the lack of knowledge derived from low number of patients and limited awareness of these diseases, and help to learn more about their geographical or population-based specificities, which is relevant for research purposes and for promoting better standards of care and diagnosis. [...]
2020 - 10.1186/s13023-020-01455-z
Orphanet Journal of Rare Diseases, Vol. 15 (october 2020)  
8.
9 p, 816.6 KB The Need for Establishing a Universal CTG Sizing Method in Myotonic Dystrophy Type 1 / Ballester-Lopez, Alfonsina (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Linares-Pardo, Ian (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Koehorst, Emma (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Núñez-Manchón, Judit (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Pintos-Morell, Guillem (Hospital Universitari Vall d'Hebron) ; Coll-Cantí, Jaume (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Almendrote, Míriam (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Lucente, Giuseppe (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Arbex, Andrea (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Magaña, Jonathan J. (National Rehabilitation Institute (Mèxic)) ; Murillo-Melo, Nadia M. (National Rehabilitation Institute (Mèxic)) ; Lucia, Alejandro (Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12)) ; Monckton, Darren G. (University of Glasgow) ; Cumming, Sarah A. (University of Glasgow) ; Ramos-Fransi, Alba (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Martínez-Piñeiro, Alicia (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Nogales, Gisela (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Universitat Autònoma de Barcelona
The number of cytosine-thymine-guanine (CTG) repeats ('CTG expansion size') in the 3'untranslated region (UTR) region of the dystrophia myotonica -protein kinase (DMPK) gene is a hallmark of myotonic dystrophy type 1 (DM1), which has been related to age of disease onset and clinical severity. [...]
2020 - 10.3390/genes11070757
Genes, Vol. 11 (july 2020)  
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11 p, 811.1 KB Sex Differences and the Influence of an Active Lifestyle on Adiposity in Patients with McArdle Disease / Rodríguez-Gómez, Irene (CIBER of Frailty and Healthy Aging (CIBERFES)) ; Santalla, Alfredo (Universidad Pablo de Olavide) ; Diez-Bermejo, Jorge (Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12)) ; Munguía-Izquierdo, Diego (Universidad Pablo de Olavide) ; Alegre, Luis M. (CIBER of Frailty and Healthy Aging (CIBERFES)) ; Nogales, Gisela (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Arenas, Joaquín (Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12)) ; Martín, Miguel A. (Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12)) ; Lucia, Alejandro (Universidad Europea de Madrid) ; Ara, Ignacio (CIBER of Frailty and Healthy Aging (CIBERFES))
McArdle disease (glycogenosis-V) is associated with exercise intolerance, however, how it affects an important marker of cardiometabolic health as it is adiposity remains unknown. We evaluated the association between physical activity (PA) and adiposity in patients with McArdle disease. [...]
2020 - 10.3390/ijerph17124334
International journal of environmental research and public health, Vol. 17 (june 2020)  
10.
18 p, 365.4 KB Preclinical Research in McArdle Disease : A Review of Research Models and Therapeutic Strategies / Villarreal-Salazar, Mónica (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Brull, Astrid (National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda) ; Nogales, Gisela (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Andreu Périz, Antoni Lluís (EATRIS, European Infrastructure for Translational Medicine) ; Martín, Miguel Angel (Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12)) ; Arenas, Joaquín (Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12)) ; Santalla, Alfredo (Universidad Pablo de Olavide. Departamento de Deporte e Informática) ; Lucia, Alejandro (European University. Faculty of Sport Sciences) ; Vissing, John (Copenhagen University Hospital Rigshospitalet) ; Krag, Thomas (Copenhagen University Hospital Rigshospitalet) ; Pinós Figueras, Tomàs (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Universitat Autònoma de Barcelona
McArdle disease is an autosomal recessive disorder of muscle glycogen metabolism caused by pathogenic mutations in the PYGM gene, which encodes the skeletal muscle-specific isoform of glycogen phosphorylase. [...]
2021 - 10.3390/genes13010074
Genes, Vol. 13 (december 2021)  

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