المؤلفون: Emma B. Hodcroft, Jan Albert, Randy Poelman, Diego García-Martínez de Artola, Elke Wollants, Marijke Reynders, Cristina Andrés, Josiane Reist, Hubert G. M. Niesters, Adrian Egli, Robert Dyrdak, Julia Alcoba Florez, Richard A. Neher, Andrés Antón

المساهمون: Microbes in Health and Disease (MHD), Institut Català de la Salut, [Hodcroft EB] Biozentrum, University of Basel, Basel, Switzerland. Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland. Swiss Institute of Bioinformatics, Basel, Switzerland. [Dyrdak R] Department of Clinical Microbiology, Karolinska University Hospital, Stockholm, Sweden. Department of Microbiology, Tumor and Cell Biology, Karolinska Institute, Stockholm, Sweden. [Andrés C, Antón A] Unitat de Virus Respiratoris, Secció de Virologia, Servei de Microbiologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. [Egli A, Reist J] Clinical Bacteriology and Mycology, University Hospital Basel, Basel, Switzerland. Applied Microbiology Research, Department of Biomedicine, University of Basel, Basel, Switzerland. [García Martínez de Artola D] Department of Clinical Microbiology, Hospital Universitario Nuestra Señora de Candelaria, Tenerife, Spain, Vall d'Hebron Barcelona Hospital Campus

المصدر: PLoS Pathogens, 18(5). PUBLIC LIBRARY SCIENCE
Scientia
Hodcroft, Emma B; Dyrdak, Robert; Andrés, Cristina; Egli, Adrian; Reist, Josiane; García Martínez de Artola, Diego; Alcoba-Flórez, Julia; Niesters, Hubert G M; Antón, Andrés; Poelman, Randy; Reynders, Marijke; Wollants, Elke; Neher, Richard A; Albert, Jan (2022). Evolution, geographic spreading, and demographic distribution of Enterovirus D68. PLoS pathogens, 18(5), e1010515. Public Library of Science 10.1371/journal.ppat.1010515 <http://dx.doi.org/10.1371/journal.ppat.1010515Test>

مصطلحات موضوعية: Adult, medicine.medical_specialty, virus::virus ARN::Picornaviridae::enterovirus::enterovirus humano D [ORGANISMOS], Environment and Public Health::Public Health::Epidemiologic Measurements::Demography [HEALTH CARE], Immunology, Distribution (economics), 610 Medicine & health, Biology, Genome, Microbiology, salud ambiental::salud::enfermedad ambiental::brotes de enfermedades [SALUD PÚBLICA], Virus, Disease Outbreaks, Viruses::RNA Viruses::Picornaviridae::Enterovirus::Enterovirus D, Human [ORGANISMS], Medical microbiology, 360 Social problems & social services, Virology, Other subheadings::Other subheadings::/genetics [Other subheadings], Enterovirus Infections, medicine, Genetics, Humans, Demografia, Child, Respiratory Tract Infections, Molecular Biology, Phylogeny, Aged, Demography, Malalties transmissibles - Transmissió, Enterovirus D, Human, Phylogenetic tree, Otros calificadores::Otros calificadores::/genética [Otros calificadores], SARS-CoV-2, business.industry, COVID-19, Outbreak, Subclade, Virosis - Epidemiologia, ambiente y salud pública::salud pública::medidas epidemiológicas::demografía [ATENCIÓN DE SALUD], Evolutionary biology, Environmental Health::Health::Environmental Illness::Disease Outbreaks [PUBLIC HEALTH], Parasitology, business, Enterovirus D68

وصف الملف: application/pdf; Electronic-eCollection

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af90d0d8b5995b834fa61c0e11f0f988Test
https://edoc.unibas.ch/90654Test/

المؤلفون: Emma Koehorst, Jakub Chojnacki, Judit Núñez-Manchón, Mònica Suelves, Ana Pilar Gómez-Escribano, Rafael P. Vázquez-Manrique, Jaume Coll-Cantí, Andrea Arbex, Alicia Martínez-Piñeiro, Alba Ramos-Fransi, Guillem Pintos-Morell, Miriam Almendrote, Gisela Nogales-Gadea, Giuseppe Lucente, Alfonsina Ballester-Lopez

المساهمون: Institut Català de la Salut, [Koehorst E, Núñez-Manchón J] Neuromuscular and Neuropediatric Research Group, Institut d’Investigació en Ciències de la Salut Germans Trias i Pujol (IGTP), Campus Can Ruti, Universitat Autònoma de Barcelona, Bellaterra, Spain. [Ballester-López A] Neuromuscular and Neuropediatric Research Group, Institut d’Investigació en Ciències de la Salut Germans Trias i Pujol (IGTP), Campus Can Ruti, Universitat Autònoma de Barcelona, Bellaterra, Spain. Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain. [Almendrote M, Lucente G, Arbex A] Neuromuscular and Neuropediatric Research Group, Institut d’Investigació en Ciències de la Salut Germans Trias i Pujol (IGTP), Campus Can Ruti, Universitat Autònoma de Barcelona, Bellaterra, Spain. Neuromuscular Pathology Unit, Neurology Service, Neuroscience Department, Hospital Universitari Germans Trias i Pujol, 08916 Badalona, Spain. [Pintos-Morell G] Neuromuscular and Neuropediatric Research Group, Institut d’Investigació en Ciències de la Salut Germans Trias i Pujol (IGTP), Campus Can Ruti, Universitat Autònoma de Barcelona, Bellaterra, Spain. Unitat de Trastorns Metabòlics Hereditaris (MetabERN), Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus

المصدر: Journal of Clinical Medicine; Volume 10; Issue 23; Pages: 5520
Journal of Clinical Medicine
r-CIPF. Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
Universitat Rovira i virgili (URV)
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Journal of Clinical Medicine, Vol 10, Iss 5520, p 5520 (2021)
Scientia

مصطلحات موضوعية: musculoskeletal diseases, antisense transcription, congenital, hereditary, and neonatal diseases and abnormalities, Cells::Cells, Cultured [ANATOMY], nucleótidos y nucleósidos de ácidos nucleicos::ácidos nucleicos::ARN::ARN mensajero [COMPUESTOS QUÍMICOS Y DROGAS], Immunofluorescence, RAN translation, myotonic dystrophies, primary cell cultures, phenotypic modulators, Myotonic dystrophy, Article, Transcription (biology), Other subheadings::Other subheadings::/genetics [Other subheadings], medicine, Miotonia atròfica - Aspectes genètics, Empalmament (Genètica), Muscular dystrophy, células::células cultivadas [ANATOMÍA], medicine.diagnostic_test, Otros calificadores::Otros calificadores::/genética [Otros calificadores], business.industry, Translation (biology), General Medicine, medicine.disease, Molecular biology, Antisense RNA, enfermedades musculoesqueléticas::enfermedades musculares::trastornos musculares atróficos::distrofias musculares::distrofia miotónica [ENFERMEDADES], Musculoskeletal Diseases::Muscular Diseases::Muscular Disorders, Atrophic::Muscular Dystrophies::Myotonic Dystrophy [DISEASES], Cytoplasm, Nucleic Acids, Nucleotides, and Nucleosides::Nucleic Acids::RNA::RNA, Messenger [CHEMICALS AND DRUGS], Ran, Medicine, business, Cultiu cel·lular

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::338ec6d37a6b41031e99d72cb50b0a41Test

المؤلفون: Clara Carnicer, Laura Gort, Amaia Lasa-Aranzasti, José Antonio Arranz, María Unceta-Suárez, Mireia del Toro, Frederic Tort, Lucia Miguel, Lidia Carreño, Angel Sanchez-Montañez, Elena García-Arumí, Javier de las Heras, Júlia Sala-Coromina

المساهمون: Institut Català de la Salut, [Sala-Coromina J, Miguel LD, Sanchez-Montañez A] Servei de Neurologia Pediàtrica, Vall d'Hebron Hospital Universitari, Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. [de Las Heras J] Division of Pediatric Metabolism, Cruces University Hospital, Biocruces-Bizkaia Health Research Institute, CIBER-ER, University of the Basque Country (UPV/EHU), Spain. [Lasa-Aranzasti A] Servei de Genètica Clínica i Molecular, Vall d'Hebron Hospital Universitari, Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. [Garcia-Arumi E] Servei de Genètica Clínica i Molecular, Vall d'Hebron Hospital Universitari, Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. Grup de Recerca en Trastorns Neuromusculars i Mitocondrials, Vall d'Hebron Institut de Recerca (VHIR), Barcelona, Spain. Vall d'Hebron Hospital Universitari, Barcelona, Spain. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain. [Carreño L] Grup de Recerca en Trastorns Neuromusculars i Mitocondrials, Vall d'Hebron Institut de Recerca (VHIR), Barcelona, Spain. Vall d'Hebron Hospital Universitari, Barcelona, Spain. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain. [Arranz JA, Carnicer C] Laboratori Metabòlic, Vall d'Hebron Hospital Universitari, Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. [Del Toro M] Servei de Neurologia Pediàtrica, Vall d'Hebron Hospital Universitari, Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus

المصدر: Molecular Genetics and Metabolism Reports, Vol 26, Iss, Pp 100690-(2021)
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Addi. Archivo Digital para la Docencia y la Investigación
instname
Addi: Archivo Digital para la Docencia y la Investigación
Universidad del País Vasco
Scientia
Molecular Genetics and Metabolism Reports

مصطلحات موضوعية: Methyltransferase, Short Communication, Mitochondrial disease, Disease, Nutritional and Metabolic Diseases::Metabolic Diseases::Mitochondrial Diseases [DISEASES], Gene mutation, 03 medical and health sciences, afecciones patológicas, signos y síntomas::procesos patológicos::atributos de la enfermedad::enfermedades raras [ENFERMEDADES], 0302 clinical medicine, Endocrinology, TRMU, Other subheadings::Other subheadings::/genetics [Other subheadings], Genetics, Infants nadons, Medicine, Molecular Biology, lcsh:QH301-705.5, Early onset, 0303 health sciences, lcsh:R5-920, Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Rare Diseases [DISEASES], Otros calificadores::Otros calificadores::/genética [Otros calificadores], business.industry, Mitocondris - Malalties - Aspectes genètics, 030305 genetics & heredity, personas::Grupos de Edad::lactante::recién nacido [DENOMINACIONES DE GRUPOS], Liver failure, Persons::Age Groups::Infant::Infant, Newborn [NAMED GROUPS], medicine.disease, Phenotype, Leigh syndrome, lcsh:Biology (General), Transfer RNA, Malalties rares, business, lcsh:Medicine (General), enfermedades nutricionales y metabólicas::enfermedades metabólicas::enfermedades mitocondriales [ENFERMEDADES], 030217 neurology & neurosurgery, Acute liver failure

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e0eb21b6e0782d2c190974608f70bdeTest
http://www.sciencedirect.com/science/article/pii/S2214426920301361Test

المؤلفون: María José de Castro, Roberto Giugliani, Mireia del Toro, María L. Couce

المساهمون: Institut Català de la Salut, [de Castro MJ, Couce ML] Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Paediatrics, Santiago de Compostela University Clinical Hospital, 15704 Santiago de Compostela, Spain. IDIS, Health Research Institute of Santiago de Compostela, 15704 Santiago de Compostela, Spain. CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, 28029 Madrid, Spain. MetabERN, European Reference Network for Hereditary Metabolic Disorders, 33100 Udine, Italy. [Del Toro M] CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, 28029 Madrid, Spain. MetabERN, European Reference Network for Hereditary Metabolic Disorders, 33100 Udine, Italy. Servei de Neurologia Pediàtrica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. CIBERER, MetabERN, Barcelona, Spain. [Giugliani R] Medical Genetics Service, Gene Therapy Center, Medical Genetics Clinical Research Group, Biodiscovery Research Group, HCPA, Porto Alegre 90035-903, Brazil. Department of Genetics, UFRGS, Porto Alegre 91501-970, Brazil. DASA/GeneOne, São Paulo 04078-013, Brazil, Vall d'Hebron Barcelona Hospital Campus

المصدر: Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
International Journal of Molecular Sciences, Vol 22, Iss 9200, p 9200 (2021)
International Journal of Molecular Sciences
Scientia

مصطلحات موضوعية: Viral vectors, viruses, Genetic enhancement, Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Metabolism, Inborn Errors::Carbohydrate Metabolism, Inborn Errors::Mucopolysaccharidoses [DISEASES], blood brain barrier, Review, Bioinformatics, medicine.disease_cause, Terapia genética, Sistema nervoso central, Mucopolissacaridoses, Genome editing, Adeno-associated virus, lentivirus, Medicine, Biology (General), Spectroscopy, Gene Editing, Otros calificadores::Otros calificadores::/genética [Otros calificadores], General Medicine, Enzyme replacement therapy, Revisão, mucopolysaccharidoses, gene therapy, Computer Science Applications, Brain disease, Chemistry, Metabolisme, Errors congènits del - Tractament, Ex vivo gene therapy, Blood-Brain Barrier, Blood brain barrier, Teràpia genètica, congenital, hereditary, and neonatal diseases and abnormalities, enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::alteraciones congénitas del metabolismo::trastornos congénitos del metabolismo de los carbohidratos::mucopolisacaridosis [ENFERMEDADES], viral vectors, QH301-705.5, Genetic Vectors, adeno-associated virus, Catalysis, Inorganic Chemistry, Gene therapy, Other subheadings::Other subheadings::/genetics [Other subheadings], Animals, Humans, Therapeutics::Biological Therapy::Genetic Therapy [ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT], Physical and Theoretical Chemistry, QD1-999, Molecular Biology, business.industry, Organic Chemistry, Lentivirus, Genetic Therapy, Mucopolysaccharidoses, central nervous system, Clinical trial, Central nervous system, Barreira hematoencefálica, terapéutica::terapia biológica::terapia genética [TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS], business, Potential toxicity

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5e2475541d031d1db3e41a14ca60458Test

المؤلفون: Rocio Garcia-Carbonero, Elena López-Camacho, Joan Maurel, Angelo Gámez-Pozo, Jaime Feliu, Carles Conill, Guillermo Prado-Vázquez, Marta Mendiola, Pilar García-Alfonso, Miriam Cuatrecasas, Rocío López-Vacas, Ricardo Ramos-Ruiz, Carlos Llorens, Ismael Ghanem, Laura G-Pastrián, Lucía Trilla-Fuertes, Jaume Capdevila, Juan Ángel Fresno Vara, Victoria Heredia, Paolo Nanni, Cristina Peña, Claudia Fortes, Andrea Zapater-Moros

المساهمون: Institut Català de la Salut, [Trilla-Fuertes L] Biomedica Molecular Medicine SL, C/ Faraday 7, 28049, Madrid, Spain. [Ghanem I] Medical Oncology Department, Hospital Universitario La Paz, Paseo de la Castellana 261, 28046, Madrid, Spain. [Gámez-Pozo A] Molecular Oncology & Pathology Lab, Institute of Medical and Molecular Genetics-INGEMM, Hospital Universitario La Paz -IdiPAZ, Paseo de la Castellana 261, 28046, Madrid, Spain. [Maurel J] Medical Oncology Department, Hospital Clinic of Barcelona, Translational Genomics and Targeted Therapeutics in Solid Tumors Group, IDIBAPS, University of Barcelona, Carrer de Villarroel 170, 08036, Barcelona, Spain. [G-Pastrián L] Pathology Department, Hospital Universitario La Paz, Paseo de la Castellana 261, 28046, Madrid, Spain, Molecular Pathology and Therapeutic Targets Group, Hospital Universitario La Paz-IdiPAZ, Paseo de la Castellana 261, 28046, Madrid, Spain. [Mendiola M] Molecular Pathology and Therapeutic Targets Group, Hospital Universitario La Paz-IdiPAZ, Paseo de la Castellana 261, 28046, Madrid, Spain, Biomedical Research Networking Center on Oncology-CIBERONC, ISCIII, Av. Monforte de Lemos 5, 28029, Madrid, Spain. [Capdevila J] Servei d’Oncologia Mèdica, Vall Hebron Hospital Universitari, Barcelona, Spain. Vall Hebron Institute of Oncology (VHIO), Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus

المصدر: Mol Cell Proteomics
Scientia

مصطلحات موضوعية: Male, Proteomics, Recte - Càncer - Aspectes genètics, Proteome, medicine.medical_treatment, Biochemistry, Analytical Chemistry, Cohort Studies, neoplasias::neoplasias por localización::neoplasias del sistema digestivo::neoplasias gastrointestinales::neoplasias intestinales::neoplasias colorrectales::neoplasias del recto::neoplasias del ano [ENFERMEDADES], Gene Regulatory Networks, neoplasias::neoplasias por tipo histológico::neoplasias glandulares y epiteliales::carcinoma::carcinoma de células escamosas [ENFERMEDADES], Exome sequencing, Aged, 80 and over, 0303 health sciences, Otros calificadores::Otros calificadores::/genética [Otros calificadores], 030302 biochemistry & molecular biology, Translation (biology), Middle Aged, Anus Neoplasms, Neoplasm Proteins, RNA splicing, Carcinoma, Squamous Cell, Female, Adult, Biology, 03 medical and health sciences, Lymphocytes, Tumor-Infiltrating, Neoplasms::Neoplasms by Site::Digestive System Neoplasms::Gastrointestinal Neoplasms::Intestinal Neoplasms::Colorectal Neoplasms::Rectal Neoplasms::Anus Neoplasms [DISEASES], Exome Sequencing, Other subheadings::Other subheadings::/genetics [Other subheadings], medicine, Cell Adhesion, Neoplasms::Neoplasms by Histologic Type::Neoplasms, Glandular and Epithelial::Carcinoma::Carcinoma, Squamous Cell [DISEASES], Anal cancer, Humans, Molecular Biology, Gene, Survival rate, 030304 developmental biology, Aged, Cell Proliferation, business.industry, Research, Anal Squamous Cell Carcinoma, Immunotherapy, Omics, medicine.disease, Mutation, Cancer research, Personalized medicine, business

وصف الملف: application/pdf; image/jpeg

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4dc3244b19b5443bf6a3f06bed8f2b59Test
https://europepmc.org/articles/PMC7124473Test/