المؤلفون: Mónica Villarreal-Salazar, Astrid Brull, Gisela Nogales-Gadea, Antoni L. Andreu, Miguel A. Martín, Joaquín Arenas, Alfredo Santalla, Alejandro Lucia, John Vissing, Thomas O. Krag, Tomàs Pinós

المصدر: Genes, Vol 13, Iss 1, p 74 (2021)

مصطلحات موضوعية: McArdle disease, glycogen, glycogen phosphorylase, research models, treatments, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4425/13/1/74Test; https://doaj.org/toc/2073-4425Test

الوصول الحر: https://doaj.org/article/d2e6426642f5404c889b001d3cca2021Test

المؤلفون: Inés García-Consuegra, Sara Asensio-Peña, Rocío Garrido-Moraga, Tomàs Pinós, Cristina Domínguez-González, Alfredo Santalla, Gisela Nogales-Gadea, Pablo Serrano-Lorenzo, Antoni L. Andreu, Joaquín Arenas, José L. Zugaza, Alejandro Lucia, Miguel A. Martín

المساهمون: Institut Català de la Salut, [García-Consuegra I, Domínguez-González C] Mitochondrial and Neuromuscular Disorders Group, Hospital 12 de Octubre Health Research Institute (imas12), Madrid, Spain. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain. [Asensio-Peña S, Garrido-Moraga R] Mitochondrial and Neuromuscular Disorders Group, Hospital 12 de Octubre Health Research Institute (imas12), Madrid, Spain. [Pinós T] Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain. Grup de Recerca de Patologia Neuromuscular i Mitocondrial, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. [Santalla A] Department of Computer and Sport Sciences, Universidad Pablo de Olavide, Sevilla, Spain, Vall d'Hebron Barcelona Hospital Campus

المصدر: International Journal of Molecular Sciences
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
ABACUS. Repositorio de Producción Científica
Universidad Europea (UEM)
Addi. Archivo Digital para la Docencia y la Investigación
Universidad de Alicante (UA)
International Journal of Molecular Sciences; Volume 23; Issue 9; Pages: 4650
Scientia

مصطلحات موضوعية: McArdle disease, Proteome, Múscul estriat - Patogènesi, Enfermedad del almacenamiento de glucógeno tipo V, Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Metabolism, Inborn Errors::Carbohydrate Metabolism, Inborn Errors::Glycogen Storage Disease::Glycogen Storage Disease Type V [DISEASES], Enfermedad cardiovascular, Genética humana, Biological Factors::Biomarkers [CHEMICALS AND DRUGS], Catalysis, factores biológicos::biomarcadores [COMPUESTOS QUÍMICOS Y DROGAS], PYGM, Inorganic Chemistry, enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::alteraciones congénitas del metabolismo::trastornos congénitos del metabolismo de los carbohidratos::enfermedad por almacenamiento de glucógeno::enfermedad por almacenamiento de glucógeno tipo V [ENFERMEDADES], proteomics, myophosphorylase, Other subheadings::Other subheadings::/genetics [Other subheadings], Humans, Protein Isoforms, Physical and Theoretical Chemistry, skeletal muscle, Muscle, Skeletal, aminoácidos, péptidos y proteínas::proteínas::proteoma [COMPUESTOS QUÍMICOS Y DROGAS], Molecular Biology, Spectroscopy, GSDV, iTRAQ, metabolic myopathy, protein biomarkers, Metabolismo, Otros calificadores::Otros calificadores::/genética [Otros calificadores], Organic Chemistry, General Medicine, Computer Science Applications, Glicogen, Marcadors bioquímics, Glycogen Storage Disease Type V, Metabolisme, Errors congènits del, Amino Acids, Peptides, and Proteins::Proteins::Proteome [CHEMICALS AND DRUGS], Biomarkers, Glycogen

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::244b932b2fd543f5a5ec25d294df5ba0Test
https://fundanet.igtp.cat/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=2574Test

المؤلفون: Alejandro Lucia, Andrea Martinuzzi, Gisela Nogales-Gadea, Ros Quinlivan, Stacey Reason, Deeksha Bali, Richard Godfrey, Ronald Haller, Priya Kishnani, Pascal Laforêt, Nicoline Løkken, Olimpia Musumeci, Alfredo Santalla, Mark Tarnopolsky, Antonio Toscano, John Vissing, Nicol Voermans, Andrew Wakelin

المساهمون: International Association for Muscle Glycogen Storage Disease study group

المصدر: ABACUS. Repositorio de Producción Científica
Universidad Europea (UEM)

مصطلحات موضوعية: medicine.medical_specialty, MCARDLE DISEASE, Enfermedad del almacenamiento de glucógeno tipo V, McArdle, Enfermedad cardiovascular, Disease, Tarui, Gastroenterology, chemistry.chemical_compound, Internal medicine, myophosphorylase, medicine, Genetics (clinical), Biología molecular, Glycogen, business.industry, medicine.disease, Genética, Clinical practice guidelines, Myophosphorylase, Phosphofructokinase, Clinical Practice, phosphofructokinase, Neurology, chemistry, glycogen, Pediatrics, Perinatology and Child Health, Neurology (clinical), business, clinical practice guidelines, Glycogen storage disease type V

وصف الملف: Print-Electronic

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ee1414a87b12b5a363e1a5733b3cd92Test
https://hdl.handle.net/11268/11047Test

المؤلفون: Miguel A. Martín, Alejandro Lucia, María Morán, Joaquín Arenas, Gisela Nogales-Gadea, Alfredo Santalla

المصدر: ABACUS. Repositorio de Producción Científica
Universidad Europea (UEM)
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid

مصطلحات موضوعية: Gerontology, medicine.medical_specialty, Physiology, Hidratos de carbono en nutrición, Carbohydrates, Disease, Biology, Muscle physiology, Diet, High-Fat, Walkers, World class, 03 medical and health sciences, 0302 clinical medicine, glycogenosis, Internal medicine, medicine, Endocrinología, Humans, Letters, 030229 sport sciences, Diet, Endocrinology, Athletes, Nutrición, Glycogen Storage Disease Type V, Glycogen depletion, Glycogen, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7e68b9de345e6527c6971e019c854fdTest
http://hdl.handle.net/11268/6403Test

المؤلفون: Astrid Brull, Noemi de Luna, Alejandro Lucia, Gisela Nogales-Gadea, Tomàs Pinós, Alfredo Santalla

المصدر: Journal of Inherited Metabolic Disease. 38:221-230

مصطلحات موضوعية: Ciencia, Gene isoform, medicine.medical_specialty, Enfermedades - McArdles, DNA Mutational Analysis, Mice, Transgenic, Disease, Biology, medicine.disease_cause, chemistry.chemical_compound, Glycogen phosphorylase, Pathogenomics, Predictive Value of Tests, Internal medicine, Genetics, medicine, Animals, Humans, Genetic Predisposition to Disease, Genetic Testing, Muscle, Skeletal, Ciencias médicas, Gene, Genetics (clinical), Mutation, Exercise Tolerance, Glycogen, Metabolismo - Enfermedades, Metabolismo - Glucosa - Enfermedades, Prognosis, Human genetics, Disease Models, Animal, Phenotype, Endocrinology, chemistry, Glycogen Phosphorylase, Muscle Form, Glycogen Storage Disease Type V

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::469e0652035d164b7a26d85219a20664Test
https://doi.org/10.1007/s10545-014-9743-2Test

المؤلفون: Astrid Brull, Tomàs Pinós, Gisela Nogales-Gadea, Niels Ørtenblad, Alejandro Lucia, Alfredo Santalla, Noemi de Luna

المصدر: Santalla, A, Nogales-Gadea, G, Ørtenblad, N, Brull, A, de Luna, N, Pinós, T & Lucia, A 2014, ' McArdle Disease : A Unique Study Model in Sports Medicine ', Sports Medicine, vol. 44, no. 11, pp. 1531-1544 . https://doi.org/10.1007/s40279-014-0223-5Test

مصطلحات موضوعية: Ciencia, medicine.medical_specialty, Sports medicine, Physical Exertion, Salud, Physical Therapy, Sports Therapy and Rehabilitation, Disease, Exercise intolerance, Sports Medicine, Models, Biological, Rhabdomyolysis, Sarcoplasmic Reticulum Calcium-Transporting ATPases, Animals, Humans, Medicine, Orthopedics and Sports Medicine, Muscle, Skeletal, Intensive care medicine, Sport and Fitness Sciences, Exercise Tolerance, Idrottsvetenskap, business.industry, Enfermedades - McArdle, Myoglobinuria, Medicina deportiva, Enzyme replacement therapy, medicine.disease, Ejercicio físico, Genética, Disease Models, Animal, Glycogen Synthase, Myophosphorylase, Muscle Fatigue, Physical therapy, Glycogen Storage Disease Type V, medicine.symptom, business, Exercise prescription, Glycogen

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f99c3d50f17aeb47d3b01dbe639a22bcTest
https://doi.org/10.1007/s40279-014-0223-5Test

المؤلفون: Alejandro Lucía, Gabriele Siciliano, Nicol C. Voermans, Rosaline Quinlivan, P. Laforêt, Ramon Martí, J. Vissing, A. Toscano, Tomàs Pinós, Ximena Ortega, Alfredo Santalla, E. Kuhnle, Hacer Durmus, Olimpia Musumeci, Milick Martin, Renata S Scalco, B. San Milan, Sabrina Sacconi, Andrea Martinuzzi

المصدر: Neuromuscular Disorders. 27:S203-S204

مصطلحات موضوعية: chemistry.chemical_compound, Neurology, Glycogen, chemistry, Preliminary report, business.industry, Pediatrics, Perinatology and Child Health, Physiology, Medicine, Neurology (clinical), business, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::99cb5aa004e6c971a05d5f10367ae721Test
https://doi.org/10.1016/j.nmd.2017.06.397Test

المؤلفون: Joaquín Arenas, Richard Godfrey, Alfredo Santalla, Tomàs Pinós, Miguel A. Martín, Gisela Nogales-Gadea, Jaume Coll-Cantí, Alejandro Lucia, Guillem Pintos-Morell

المصدر: ABACUS. Repositorio de Producción Científica
Universidad Europea (UEM)

مصطلحات موضوعية: Adult, Male, Adolescent, Genotype, Physiology, Biopsy, Exercise intolerance, Biology, Bioinformatics, 03 medical and health sciences, Glycogen phosphorylase, chemistry.chemical_compound, 0302 clinical medicine, Genetics, medicine, Humans, Registries, Muscle, Skeletal, Exercise, Exercise Tolerance, Glycogen, Muscles, Enfermedades - McArdle, 030229 sport sciences, Middle Aged, medicine.disease, Phenotype, Pathophysiology, chemistry, Myophosphorylase, Spain, Mutation, Glycogen Phosphorylase, Muscle Form, Glycogen Storage Disease Type V, Female, medicine.symptom, Enfermedad, Rhabdomyolysis, 030217 neurology & neurosurgery, Glycogen storage disease type V

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06cc87b05ef5610a04f3b541c5efaed3Test
https://pubmed.ncbi.nlm.nih.gov/26465709Test

المؤلفون: Alejandro Lucia, Gisela Nogales-Gadea, Noemi de Luna, Joaquín Arenas, Astrid Brull, Tomàs Pinós, Antoni L. Andreu, Alfredo Santalla, Miguel A. Martín

مصطلحات موضوعية: Ciencia, medicine.medical_specialty, McArdle disease, Salud, Exercise intolerance, Biology, medicine.disease_cause, Exon, Glycogen phosphorylase, chemistry.chemical_compound, Internal medicine, Genetics, medicine, Missense mutation, Animals, Humans, Genetics (clinical), Mice, Knockout, Mutation, Polymorphism, Genetic, Glycogen, Nucleoside inhibitor, Ejercicio, Genética, Disease Models, Animal, Endocrinology, chemistry, Myophosphorylase, Glycogen Phosphorylase, Muscle Form, Glycogen Storage Disease Type V, medicine.symptom

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56a8108e4481cf2835823aa015e571dbTest
https://hdl.handle.net/11268/3964Test

المؤلفون: Helios Pareja-Galeano, Miguel A. Martín, Joaquín Arenas, Rafael Alis, Alejandro Santos-Lozano, María Morán, Jorge Díez-Bermejo, Fabian Sanchis-Gomar, Alejandro F. San Juan, Alfredo Santalla, Alejandro Lucia

المصدر: Europe PubMed Central
CURRENT PHARMACEUTICAL DESIGN
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Scopus-Elsevier

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Xanthine Oxidase, MCARDLE DISEASE, McArdle disease, Allopurinol, Salud, 030105 genetics & heredity, Muscle damage, Biology, 03 medical and health sciences, chemistry.chemical_compound, muscle damage, Internal medicine, Drug Discovery, medicine, oxidative stress, Humans, Xanthine oxidase, Muscle, Skeletal, Pharmacology, Metabolismo, Glycogen, Enfermedades - McArdle, Purine nucleotide cycle, Metabolismo - Enfermedades, medicine.disease, Endocrinology, chemistry, Myophosphorylase, rhabdomyolysis, Glycogen Storage Disease Type V, Enfermedad, Glycogen storage disease type V, xanthine oxidase, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e9dd233bcb380738f822a7a969be03fTest
http://europepmc.org/abstract/med/26861723Test