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Resultats globals: 6 registres trobats en 0.01 segons.
Articles, 6 registres trobats
Articles 6 registres trobats  
1.
15 p, 9.5 MB Low aerobic capacity in McArdle disease : A role for mitochondrial network impairment? / Villarreal-Salazar, M. (Hospital Universitari Vall d'Hebron) ; Santalla, A. (Universidad Pablo de Olavide) ; Real-Martinez, Alberto (Hospital Universitari Vall d'Hebron) ; Nogales, Gisela (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Valenzuela, P.L. (Hospital Universitario 12 de Octubre (Madrid)) ; Fiuza-Luces, C. (Hospital Universitario 12 de Octubre (Madrid)) ; Andreu, A. L. (European Infrastructure for Translational Medicine) ; Rodríguez-Aguilera, J.C. (Universidad Pablo de Olavide) ; Martín, M.A. (Hospital Universitario 12 de Octubre (Madrid)) ; Arenas, Joaquín (Hospital Universitario 12 de Octubre (Madrid)) ; Vissing, J. (University of Copenhagen) ; Lucia, A. (European University) ; Krag, T.O. (University of Copenhagen) ; Pinós Figueras, Tomàs (Hospital Universitari Vall d'Hebron) ; Universitat Autònoma de Barcelona
McArdle disease is caused by myophosphorylase deficiency and results in complete inability for muscle glycogen breakdown. A hallmark of this condition is muscle oxidation impairment (e. g. , low peak oxygen uptake (VO)), a phenomenon traditionally attributed to reduced glycolytic flux and Krebs cycle anaplerosis. [...]
2022 - 10.1016/j.molmet.2022.101648
Molecular metabolism, Vol. 66 (november 2022)  
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2.
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 Blazquez (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)  
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3.
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)  
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4.
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)  
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5.
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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6.
4 p, 163.0 KB McArdle disease does not affect skeletal muscle fibre type profiles in humans / Kohn, Tertius Abraham (UCT/MRC Research Unit for Exercise Science and Sports Medicine, Department of Human Biology, University of Cape Town) ; Noakes, Timothy David (UCT/MRC Research Unit for Exercise Science and Sports Medicine, Department of Human Biology, University of Cape Town) ; Rae, Dale Elizabeth (UCT/MRC Research Unit for Exercise Science and Sports Medicine, Department of Human Biology, University of Cape Town) ; Rubio, Juan Carlos (Hospital Universitario 12 de Octubre (Madrid)) ; Santalla, Alfredo (Universidad Pablo de Olavide. Departamento de Deporte e Informática) ; Nogales, Gisela (Institut d'Investigació Biomèdica Sant Pau) ; Pinós Figueras, Tomàs (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Martín, Miguel A. (Hospital Universitario 12 de Octubre (Madrid)) ; Arenas, Joaquín (Hospital Universitario 12 de Octubre (Madrid)) ; Lucia, Alejandro (European University of Madrid) ; Universitat Autònoma de Barcelona
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 recruitment. [...]
2014 - 10.1242/bio.20149548
Biology open, Vol. 3 (november 2014) , p. 1224-1227  
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6 Santalla, Alfredo
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