المؤلفون: Laura Bermejo-Guerrero, Carlos Pablo de Fuenmayor-Fernández de la Hoz, Pablo Serrano-Lorenzo, Alberto Blázquez-Encinar, Gerardo Gutiérrez-Gutiérrez, Laura Martínez-Vicente, Lucía Galán-Dávila, Jorge García-García, Joaquín Arenas, Nuria Muelas, Aurelio Hernández-Laín, Cristina Domínguez-González, Miguel A. Martín

المصدر: Journal of Clinical Medicine, Vol 11, Iss 1, p 22 (2021)

مصطلحات موضوعية: TWNK gene, mitochondrial dysfunction, mtDNA maintenance defects, progressive external ophthalmoplegia, Medicine

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2077-0383/11/1/22Test; https://doaj.org/toc/2077-0383Test

الوصول الحر: https://doaj.org/article/d13b6e3de4c1429eabd4953c4d5977e9Test

المؤلفون: Carlos Pablo de Fuenmayor-Fernández de la Hoz, Germán Morís, Cecilia Jiménez-Mallebrera, Carmen Badosa, Aurelio Hernández-Laín, Alberto Blázquez Encinar, Miguel Ángel Martín, Cristina Domínguez-González

المصدر: Molecular Genetics and Metabolism Reports, Vol 26, Iss , Pp 100701- (2021)

مصطلحات موضوعية: Medicine (General), R5-920, Biology (General), QH301-705.5

العلاقة: http://www.sciencedirect.com/science/article/pii/S2214426920301476Test; https://doaj.org/toc/2214-4269Test; https://doaj.org/article/308151b55d6946a8b2368ed25df40db0Test

الإتاحة: https://doi.org/10.1016/j.ymgmr.2020.100701Test
https://doaj.org/article/308151b55d6946a8b2368ed25df40db0Test

المؤلفون: Alfredo Santalla, Gisela Nogales-Gadea, Alberto Blázquez Encinar, Irene Vieitez, Adrian González-Quintana, Pablo Serrano-Lorenzo, Inés García Consuegra, Sara Asensio, Alfonsina Ballester-Lopez, Guillem Pintos-Morell, Jaume Coll-Cantí, Helios Pareja-Galeano, Jorge Díez-Bermejo, Margarita Pérez, Antoni L. Andreu, Tomàs Pinós, Joaquín Arenas, Miguel A. Martín, Alejandro Lucia

المصدر: BMC Genomics, Vol 18, Iss S8, Pp 39-47 (2017)

مصطلحات موضوعية: McArdle disease, Spanish patients, Genotype, Phenotype, Glycogenosis type V, Biotechnology, TP248.13-248.65, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s12864-017-4188-2Test; https://doaj.org/toc/1471-2164Test

الوصول الحر: https://doaj.org/article/59b83f2c1ec94ef6ac54173fb34c8252Test

المؤلفون: Cristina Domínguez-González, Aurelio Hernández-Laín, Eloy Rivas, Ana Hernández-Voth, Javier Sayas Catalán, Roberto Fernández-Torrón, Carmen Fuiza-Luces, Jorge García García, Germán Morís, Montse Olivé, Frances Miralles, Jordi Díaz-Manera, Candela Caballero, Bosco Méndez-Ferrer, Ramon Martí, Elena García Arumi, María Carmen Badosa, Jesús Esteban, Cecilia Jimenez-Mallebrera, Alberto Blazquez Encinar, Joaquín Arenas, Michio Hirano, Miguel Ángel Martin, Carmen Paradas

المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-10 (2019)

مصطلحات موضوعية: TK2 deficiency, Mitochondrial myopathy, Multiple deletions, Medicine

العلاقة: http://link.springer.com/article/10.1186/s13023-019-1071-zTest; https://doaj.org/toc/1750-1172Test; https://doaj.org/article/e7796e2f0d6c4768bedacd49fb603f21Test

الإتاحة: https://doi.org/10.1186/s13023-019-1071-zTest
https://doaj.org/article/e7796e2f0d6c4768bedacd49fb603f21Test

المؤلفون: Carmen Badosa, Carlos Pablo de Fuenmayor-Fernández de la Hoz, Miguel A. Martín, Alberto Blázquez Encinar, Cristina Domínguez-González, Aurelio Hernández-Laín, Cecilia Jimenez-Mallebrera, Germán Morís

المصدر: Molecular Genetics and Metabolism Reports, Vol 26, Iss, Pp 100701-(2021)
Molecular Genetics and Metabolism Reports

مصطلحات موضوعية: medicine.medical_specialty, Short Communication, Late onset, Exercise intolerance, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Mitochondrial myopathy, Internal medicine, Genetics, medicine, Molecular Biology, lcsh:QH301-705.5, 0303 health sciences, lcsh:R5-920, Muscle biopsy, medicine.diagnostic_test, business.industry, Multiple mitochondrial DNA deletions, 030305 genetics & heredity, Myoglobinuria, medicine.disease, lcsh:Biology (General), Differential diagnosis, medicine.symptom, business, lcsh:Medicine (General), Rhabdomyolysis, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e11a9df928f5d0db3708613535effb61Test
http://www.sciencedirect.com/science/article/pii/S2214426920301476Test

المؤلفون: Elena García Arumí, Bosco Méndez-Ferrer, Roberto Fernández-Torrón, Miguel A. Martín, Alberto Blázquez Encinar, Javier Sayas Catalán, Marti Ramon, Carmen Paradas, Germán Morís, Montse Olivé, Cecilia Jimenez-Mallebrera, Cristina Domínguez-González, Candela Caballero, Jorge García García, Jordi Díaz-Manera, Carmen Fuiza-Luces, María Carmen Badosa, Jesús Esteban, Aurelio Hernández-Laín, Joaquín Arenas, Michio Hirano, Ana Hernández-Voth, Frances Miralles, Eloy Rivas

المساهمون: [Dominguez-Gonzalez,C, Esteban,J] Neurology department, Neuromuscular disorders Unit, 12 de Octubre Hospital, Madrid, Spain. [Dominguez-Gonzalez,C, Fuiza-Luces,C, Esteban,J, Blazquez Encinar,A, Arenas,J, Martin,MA] Research Institute i+12, 12 de Octubre Hospital, Madrid, Spain. [Dominguez-Gonzalez,C, Díaz-Manera,J, Martí,C, García Arumi,E, Jimenez-Mallebrera,C, Martin,MA] Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain. [Hernández-Laín,A] Neuropathology, Pathology Department, Neuromuscular disorders Unit, 12 de Octubre Hospital, Madrid, Spain. [Rivas,E] Pathological Anatomic Department, Neuromuscular Disorders Unit, Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío, CSIC, Universidad de Sevilla, Sevilla, Spain. [Hernández-Voth,A, Sayas Catalán,J] Neumology department, Neuromuscular disorders Unit, 12 de Octubre Hospital, Madrid, Spain. [Fernández-Torrón,R] Neurology Department, Neuromuscular disorders Unit, Hospital de Donostia, San Sebastian, Spain. [Fuiza-Luces,C, Martin,MA] Mitochondrial and Neuromuscular Diseases Laboratory, Research Institute of Hospital '12 de Octubre' ('i+12'), Madrid, Spain. [García García,J] Neurology Department, Hospital de Albacete, Albacete, Spain. [Morís,G] Neurology Department, Neuromuscular disorders Unit, Hospital Central de Asturias, Oviedo, Spain. [Olivé,M] Pathological Anatomy Department, Neuromuscular disorders unit, IDIBELL-Hospital de Bellvitge, Barcelona, Spain. [Miralles,F] Neurology department, Neuromuscular disorders unit, Hospital Universitari Son Espases, Palma, Spain. [Díaz-Manera,J] Neurology department, Neuromuscular disorders unit, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain. [Caballero,C] Respiratory Department, Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío, CSIC, CIBERES, Universidad de Sevilla, Sevilla, Spain. [Méndez-Ferrer,B] Rehabilitation Department, Hospital Virgen del Rocio, Sevilla, Spain. [Martí,R, Badosa,MC, Jimenez-Mallebrera,C] Neuromuscular Unit, Neurology Department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, Barcelona, Spain. [García Arumi,E] Research group on Neuromuscular and Mitochondrial Diseases, Valld'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Spain. [Hirano,M] Department of Neurology, H. Houston Merritt Center, Columbia University Medical Center, New York, USA. [Paradas,C] Neurology Department, Neuromuscular Disorders Unit, Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío, CSIC, Universidad de Sevilla, Sevilla, Spain. [Paradas,C] Biomedical Network Research Centre on Neurodegenerative Diseases (CIBERNED), Madrid, Spain., This work was supported by research grants of Plan Nacional de I + D + I and Instituto de Salud Carlos III (ISCIII), Subdirección General de Evaluación y Fomento de la Investigación Sanitaria', project PI16–01843 (CP), PI16/00579 and CP09/00011 for CJM and the European Regional Development Fund (FEDER a way to achieve Europe). MAM has received funding from the Spanish ISCIII (grant PI 15/00431). A multicentric grant funded by the ISCIII (PMP15/00025 to MAM, RM, MO, CP)., Instituto de Biomedicina de Sevilla (IBIS), Institut Català de la Salut, [Domínguez-González C] Neurology department, Neuromuscular disorders Unit, 12 de Octubre Hospital, Madrid, Spain. Research Institute i+12, 12 de Octubre Hospital, Madrid, Spain. Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain. [Hernández-Laín A] Neuropathology, Pathology Department, Neuromuscular disorders Unit, 12 de Octubre Hospital, Madrid, Spain. [Rivas E] Pathological Anatomic Department, Neuromuscular Disorders Unit, Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío, CSIC, Universidad de Sevilla, Sevilla, Spain. [Hernández-Voth A, Sayas Catalán J] Neumology department, Neuromuscular disorders Unit, 12 de Octubre Hospital, Madrid, Spain. [Fernández-Torrón R] Neurology Department, Neuromuscular disorders Unit, Hospital de Donostia, San Sebastian, Spain. [García Arumi E] Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain. Grup de recerca en Patologia Neuromuscular i Mitocondrial, Vall d’Hebron Institut de Recerca, Barcelona, Spain. Universitat Autònoma de Barcelona, Barcelona, Spain., Vall d'Hebron Barcelona Hospital Campus, Instituto de Salud Carlos III, European Commission, Ministerio de Economía y Competitividad (España)

المصدر: Orphanet Journal of Rare Diseases
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
idUS. Depósito de Investigación de la Universidad de Sevilla
ORPHANET JOURNAL OF RARE DISEASES
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Scientia
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Dipòsit Digital de la UB
Universidad de Barcelona
Digital.CSIC. Repositorio Institucional del CSIC
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-10 (2019)
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu

مصطلحات موضوعية: 0301 basic medicine, Male, Pathology, Diseases::Musculoskeletal Diseases::Muscular Diseases [Medical Subject Headings], Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Epidemiologic Study Characteristics as Topic::Epidemiologic Studies::Case-Control Studies::Retrospective Studies [Medical Subject Headings], humanos, ADN, Multiple deletions, lcsh:Medicine, adolescente, afecciones patológicas, signos y síntomas::procesos patológicos::atributos de la enfermedad::trastornos de aparición tardía [ENFERMEDADES], miopatías mitocondriales, ADN mitocondrial, 030105 genetics & heredity, DNA, mitochondrial, Mitocondris, Late Onset Disorders, Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings], 0302 clinical medicine, Ptosis, Mitochondrial myopathy, Pharmacology (medical), Respiratory system, Child, Genetics (clinical), mediana edad, enfermedades musculares, Otros calificadores::Otros calificadores::/genética [Otros calificadores], Mitochondrial Myopathies, Anatomy::Musculoskeletal System::Muscles::Muscle, Skeletal [Medical Subject Headings], General Medicine, adulto, Middle Aged, Musculoskeletal Diseases::Muscular Diseases::Mitochondrial Myopathies [DISEASES], Mitochondria, adulto joven, Gene delention, Músculs - Malalties - Aspectes genètics, TK2 deficiency, Female, Enzymes and Coenzymes::Enzymes::Transferases::Phosphotransferases::Phosphotransferases (Alcohol Group Acceptor)::Thymidine Kinase [CHEMICALS AND DRUGS], medicine.symptom, Persons::Persons::Age Groups::Adult::Young Adult [Medical Subject Headings], Adult, Weakness, medicine.medical_specialty, Phenomena and Processes::Genetic Phenomena::Genetic Variation::Mutation [Medical Subject Headings], Adolescent, Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Late Onset Disorders [DISEASES], Check Tags::Male [Medical Subject Headings], Late onset, macromolecular substances, Timidina, Mitochondrial depletion, DNA, Mitochondrial, Thymidine Kinase, Persons::Persons::Age Groups::Adolescent [Medical Subject Headings], 03 medical and health sciences, Young Adult, Muscular Diseases, Eliminación de gen, medicine, Other subheadings::Other subheadings::/genetics [Other subheadings], Humans, Persons::Persons::Age Groups::Child [Medical Subject Headings], Muscle, Skeletal, Persons::Persons::Age Groups::Adult [Medical Subject Headings], mutación, Malalties musculars, Retrospective Studies, Chemicals and Drugs::Nucleic Acids, Nucleotides, and Nucleosides::Nucleic Acids::DNA::DNA, Circular::DNA, Mitochondrial [Medical Subject Headings], business.industry, Research, lcsh:R, estudios retrospectivos, Mutació (Biologia), Muscle weakness, Persons::Persons::Age Groups::Adult::Middle Aged [Medical Subject Headings], DNA, medicine.disease, Timidina quinasa, timidina cinasa, enfermedades del sistema nervioso::enfermedades neuromusculares::enfermedades musculares::miopatías mitocondriales [ENFERMEDADES], Chemicals and Drugs::Enzymes and Coenzymes::Enzymes::Transferases::Phosphotransferases::Phosphotransferases (Alcohol Group Acceptor)::Thymidine Kinase [Medical Subject Headings], Check Tags::Female [Medical Subject Headings], Thymidine kinase, Miopatías mitocondriales, enzimas y coenzimas::enzimas::transferasas::fosfotransferasas::fosfotransferasas (grupo alcohol aceptor)::timidina cinasa [COMPUESTOS QUÍMICOS Y DROGAS], Mutation, Diseases::Musculoskeletal Diseases::Muscular Diseases::Mitochondrial Myopathies [Medical Subject Headings], business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c4cd663d289374596b30e042d3cae99Test
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=2701Test

المؤلفون: Antoni L. Andreu, Adrián González-Quintana, Margarita Pérez, Alfredo Santalla, Jaume Coll-Cantí, Alfonsina Ballester-Lopez, Guillem Pintos-Morell, Irene Vieitez, Inés García Consuegra, Helios Pareja-Galeano, Alberto Blázquez Encinar, Tomàs Pinós, Pablo Serrano-Lorenzo, Alejandro Lucia, Jorge Díez-Bermejo, Sara Pérez Asensio, Joaquín Arenas, Gisela Nogales-Gadea, Miguel A. Martín

المصدر: ABACUS. Repositorio de Producción Científica
Universidad Europea (UEM)
BMC Genomics
BMC Genomics, Vol 18, Iss S8, Pp 39-47 (2017)
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid

مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Biotecnología, McArdle disease, lcsh:QH426-470, Genotype, lcsh:Biotechnology, Disease, Exercise intolerance, Biology, Genética humana, Bioinformatics, Asymptomatic, 03 medical and health sciences, 0302 clinical medicine, Genotype-phenotype distinction, lcsh:TP248.13-248.65, Internal medicine, Genetics, medicine, Humans, Aged, Aged, 80 and over, Research, Odds ratio, Middle Aged, medicine.disease, Genética, Confidence interval, lcsh:Genetics, 030104 developmental biology, Phenotype, Spain, Glycogenosis type V, Glycogen Storage Disease Type V, medicine.symptom, 030217 neurology & neurosurgery, Glycogen storage disease type V, Biotechnology, Spanish patients

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6870e3a05b763e7e89ae4305b64d1780Test
http://hdl.handle.net/11268/6815Test