Home > Search Results: Real-Martinez, A.
  Search Tips
Advanced Search
Search collections:
Sort by: Display results: Output format:
Results overview: Found 6 records in 0.02 seconds.
Articles, 5 records found
Research literature, 1 records found
Articles 5 records found  
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)  
Detailed record - Creative Commons
2.
10 p, 683.4 KB Cortisol Response to Stress in Adults with Attention Deficit Hyperactivity Disorder / Corominas-Roso, Margarida (Universitat Autònoma de Barcelona. Departament de Psiquiatria i de Medicina Legal) ; Palomar, Gloria (Universitat Autònoma de Barcelona. Departament de Psiquiatria i de Medicina Legal) ; Ferrer-Costa, Roser (Universitat Autònoma de Barcelona. Departament de Psiquiatria i de Medicina Legal) ; Real-Martinez, Alberto (Universitat Autònoma de Barcelona. Departament de Psiquiatria i de Medicina Legal) ; Nogueira, Mariana (Universitat Autònoma de Barcelona. Departament de Psiquiatria i de Medicina Legal) ; Corrales, Montserrat ; Casas Brugué, Miquel ; Ramos-Quiroga, Josep Antoni
Differences in the cortisol response have been reported between children exhibiting the inattentive and hyperactive/impulsive subtypes of attention deficit hyperactivity disorder. However, there is no such information about adults. [...]
2015 - 10.1093/ijnp/pyv027
International journal of neuropsychopharmacology, Vol. 18 (april 2015)  
Detailed record - Creative Commons
3.
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)  
Detailed record - Creative Commons
4.
48 p, 682.2 KB Preclinical research in glycogen storage diseases : a comprehensive review of current animal models / Almodóvar Payá, Aitana (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Villarreal-Salazar, Mónica (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; de Luna Salva, Noemí (Institut d'Investigació Biomèdica Sant Pau) ; Nogales, Gisela (Institut Germans Trias i Pujol) ; Real-Martinez, Alberto (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Andreu Périz, Antoni Lluís (European Infrastructure for Translational Medicine) ; Martín, Miguel Angel (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Arenas, Joaquín (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Lucia, Alejandro (Universidad Europea. Facultad de Ciencias del Deporte) ; Vissing, John (University of Copenhagen. Department of Neurology) ; Krag, Thomas (University of Copenhagen. Department of Neurology) ; Pinós Figueras, Tomàs (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Universitat Autònoma de Barcelona
GSD are a group of disorders characterized by a defect in gene expression of specific enzymes involved in glycogen breakdown or synthesis, commonly resulting in the accumulation of glycogen in various tissues (primarily the liver and skeletal muscle). [...]
2020 - 10.3390/ijms21249621
International journal of molecular sciences, Vol. 21 Núm. 24 (2020) , p. 9621  
Detailed record - Creative Commons
5.
14 p, 3.9 MB Low survival rate and muscle fiber-dependent aging effects in the McArdle disease mouse model / Real-Martinez, A. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Brull, Astrid (Sorbonne Université) ; Huerta, Jordi (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Tarrasó, G. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Lucia, Alejandro (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Martin, M. A. (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Arenas, Joaquín (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Andreu, A. L. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Nogales, Gisela (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Vissing, John (University of Copenhagen) ; Krag, Thomas (University of Copenhagen) ; de Luna Salva, Noemí (Institut d'Investigació Biomèdica Sant Pau) ; 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 the muscle glycogen phosphorylase, which leads to impairment of glycogen breakdown. The McArdle mouse, a model heavily affected by glycogen accumulation and exercise intolerance, was used to characterize disease progression at three different ages. [...]
2019 - 10.1038/s41598-019-41414-8
Scientific reports, Vol. 9 Núm. 1 (january 2019) , p. 5116  
Detailed record - Creative Commons

Research literature 1 records found  
1.
240 p, 19.4 MB Caracterización histológica, molecular y metabólica de la progresión fenotípica de la enfermedad de McArdle en el modelo murino / Real Martínez, Alberto ; Pinós Figueras, Tomàs, dir. ; Meseguer Navarro, Anna, dir.
La malaltia del McArdle, o glucogenosi tipus V, és una malaltia autosòmica recessiva causada per mutacions en les dues còpies de gen PYGM, que codifica per l'enzim GP-M, situat al braç llarg del cromosoma 11 humà (11. [...]
La enfermedad de McArdle, o glucogenosis tipo V, es una enfermedad autosómica recesiva, causada por mutaciones en ambas copias del gen PYGM, que codifica para la enzima GP-M, situado en el brazo largo del cromosoma 11 humano (11. [...]
McArdle's disease, or type V glycogenosis, is an autosomal recessive disease, caused by mutations in both copies of the PYGM gene, which codes for the GP-M enzyme, located on the long arm of human chromosome 11 (11. [...]
2020  
Detailed record - Creative Commons

See also: similar author names
4 Real-Martinez, Alberto
1 Real-Martínez, A.
4 Real-Martínez, Alberto
Interested in being notified about new results for this query?
Set up a personal email alert or subscribe to the RSS feed.
UAB Digital Repository of Documents :: Search :: Submit :: Personalize :: Help
Powered by Invenio v1.1.6
Maintained by ddd.bib@uab.cat  :: Metadata license:
Working with