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1دورية أكاديمية
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
المصدر: International Journal of Molecular Sciences, Vol 23, Iss 9, p 4650 (2022)
مصطلحات موضوعية: PYGM, myophosphorylase, proteomics, McArdle disease, GSDV, iTRAQ, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
العلاقة: https://www.mdpi.com/1422-0067/23/9/4650Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test
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المؤلفون: ALFREDO SANTALLA, PEDRO L. VALENZUELA, CARLOS RODRIGUEZ-LOPEZ, IRENE RODRÍGUEZ-GÓMEZ, GISELA NOGALES-GADEA, TOMÀS PINÓS, JOAQUÍN ARENAS, MIGUEL A. MARTÍN, ALEJANDRO SANTOS-LOZANO, MARÍA MORÁN, CARMEN FIUZA-LUCES, IGNACIO ARA, ALEJANDRO LUCIA
المصدر: MEDICINE & SCIENCE IN SPORTS & EXERCISE
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
RUIdeRA. Repositorio Institucional de la UCLMمصطلحات موضوعية: Male, Bone Density, GLYCOGEN STORAGE DISEASE, Glycogen Storage Disease Type V, Humans, Physical Therapy, Sports Therapy and Rehabilitation, Orthopedics and Sports Medicine, Glycogenosys type 5, MYOPHOSPHORYLASE, Exercise, Exercise Therapy, EXERCISE IS MEDICINE, GLYCOGENOSIS TYPE 5
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d476e63505e43d87a393afb357f6ca2Test
https://fundanet.igtp.cat/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=6934Test -
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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 -
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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 -
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المؤلفون: Richard Godfrey, Tomàs Pinís, Gisela Nogales-Gadea, Joaquín Arenas, Alfonsina Ballester-Lopez, Guillem Pintos-Morell, Alejandro Lucia, Miguel A. Martín, Jaume Coll-Cantí, Alfredo Santalla
المصدر: ABACUS. Repositorio de Producción Científica
Universidad Europea (UEM)
Europe PubMed Centralمصطلحات موضوعية: medicine.medical_specialty, MCARDLE DISEASE, Glycogenolysis, Physical Therapy, Sports Therapy and Rehabilitation, 03 medical and health sciences, Glycogen phosphorylase, 0302 clinical medicine, Regular exercise, medicine, Aerobic exercise, Humans, Orthopedics and Sports Medicine, Nutritional Physiological Phenomena, glycogenosis type V, exercise therapy, training, business.industry, Enfermedades - McArdle, Medicina deportiva, 030229 sport sciences, dietary recommendations, medicine.disease, Exercise Therapy, active lifestyle, Myophosphorylase, Physical therapy, Glycogen Storage Disease Type V, Exercise prescription, business, 030217 neurology & neurosurgery, Glycogen storage disease type V
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb8e21d9f3be8b6ef24432b4e6d21a80Test
https://bura.brunel.ac.uk/handle/2438/18849Test -
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المؤلفون: Joaquín Arenas, Margarita Pérez, Inés García-Consuegra, Irene Vieitez, Carmen Navarro, Alfredo Santalla, Ana María Cabello, Gisela Nogales-Gadea, Juan C. Rubio, Susana Teijeira, Alejandro Lucia, Jonatan R. Ruiz, Miguel A. Martín, Antoni L. Andreu
المصدر: Journal of Neurology, Neurosurgery & Psychiatry. 83:322-328
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Genotype, Cross-sectional study, Disease, Exercise intolerance, Genética humana, Young Adult, Internal medicine, Activities of Daily Living, medicine, Humans, Registries, Family history, Child, Alleles, Aged, Aged, 80 and over, Muscle Weakness, business.industry, Myoglobinuria, Cardiorespiratory fitness, Middle Aged, medicine.disease, Psychiatry and Mental health, Cross-Sectional Studies, Phenotype, Spain, Myophosphorylase, Disease Progression, Physical therapy, Glycogen Phosphorylase, Muscle Form, Glycogen Storage Disease Type V, Female, Surgery, Neurology (clinical), medicine.symptom, business, Glycogen storage disease type V
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::082288c4a1c43b2e00b60283ecbbc4efTest
https://doi.org/10.1136/jnnp-2011-301593Test -
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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 -
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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 -
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المؤلفون: Nuria Garatachea, Ramon Martí, Alfredo Santalla, Alejandro Lucia, Tomàs Pinós, Astrid Brull, Antoni L. Andreu, Noemi de Luna
المصدر: Neuromuscular disorders : NMD. 24(12)
مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Heterozygote, Genotyping Techniques, T-Lymphocytes, Exercise intolerance, Real-Time Polymerase Chain Reaction, Cohort Studies, Young Adult, medicine, Leukocytes, Humans, RNA, Messenger, Child, Muscle, Skeletal, Genetics (clinical), Muscle contracture, Aged, Condición física, biology, business.industry, Myoglobinuria, Skeletal muscle, Heterozygote advantage, Middle Aged, medicine.disease, Flow Cytometry, Genética, medicine.anatomical_structure, Neurology, Myophosphorylase, Pediatrics, Perinatology and Child Health, Immunology, Mutation, biology.protein, Glycogen Phosphorylase, Muscle Form, Glycogen Storage Disease Type V, Female, Neurology (clinical), Antibody, medicine.symptom, business, Rhabdomyolysis, Biomarkers
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6d84a75abdbcbb9f4c3c9073f0481daTest
https://pubmed.ncbi.nlm.nih.gov/25240406Test -
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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
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Scopus-Elsevierمصطلحات 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