المؤلفون: Urbizu, Aintzane, Garrett, Melanie E., Soldano, Karen, Drechsel, Oliver, Loth, Dorothy, Marcé-Grau, Anna, Mestres i Soler, Olga, Poca Pastor, María Antonia, Ossowski, Stephan, Macaya Ruiz, Alfons, Loth, Francis, Labuda, Rick, Ashley-Koch, Allison, Universitat Autònoma de Barcelona

المساهمون: Institut Català de la Salut, [Urbizu A] Duke Molecular Physiology Institute, Duke University Medical Center, Durham, NC, United States of America. Grup de Recerca en Neurologia Pediàtrica, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. [Garrett ME, Soldano K] Duke Molecular Physiology Institute, Duke University Medical Center, Durham, NC, United States of America. [Drechsel O] Genomic and Epigenomic Variation in Disease Group, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain. Universitat Pompeu Fabra, Barcelona, Spain. [Loth D] Department of Psychology, Conquer Chiari Research Center, University of Akron, Akron, OH, United States of America. [Marcé-Grau A, Macaya A] Grup de Recerca en Neurologia Pediàtrica, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. [Mestres I Soler O] Unitat de Recerca en Neurotraumatologia i Neurocirurgia, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. [Poca MA] Unitat de Recerca en Neurotraumatologia i Neurocirurgia, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. Servei de Neurocirurgia, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain, Vall d'Hebron Barcelona Hospital Campus

المصدر: PLoS ONE
PLoS ONE, Vol 16, Iss 5, p e0251289 (2021)
Scientia
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona

مصطلحات موضوعية: 0301 basic medicine, Male, Candidate gene, Molecular biology, Epidemiology, Gene Sequencing, Comorbidity, Deformitat d’Arnold-Chiari, Biochemistry, Diagnostic Radiology, 0302 clinical medicine, Sequencing techniques, enfermedades del sistema nervioso::malformaciones del sistema nervioso::defectos del tubo neural::malformación de Arnold-Chiari [ENFERMEDADES], Medicine and Health Sciences, Coding region, DNA sequencing, Child, Exome sequencing, Chiari malformation, Genetics, Multidisciplinary, Otros calificadores::Otros calificadores::/genética [Otros calificadores], Radiology and Imaging, Genomics, Phenotype, Magnetic Resonance Imaging, Arnold-Chiari Malformation, Genetic Phenomena::Genetic Variation [PHENOMENA AND PROCESSES], Medicine, Female, Research Article, Adult, Collagen Type VII, Imaging Techniques, Science, Collagen Type VI, Biology, Nervous System Diseases::Nervous System Malformations::Neural Tube Defects::Arnold-Chiari Malformation [DISEASES], Collagen Type I, Neurologia, 03 medical and health sciences, Diagnostic Medicine, fenómenos genéticos::variación genética [FENÓMENOS Y PROCESOS], Exome Sequencing, Other subheadings::Other subheadings::/genetics [Other subheadings], medicine, Humans, Gene, Alleles, Family Health, Biology and Life Sciences, Proteins, Genetic Variation, Human Genetics, medicine.disease, Research and analysis methods, Genòmica, 030104 developmental biology, Molecular biology techniques, Ehlers–Danlos syndrome, Genetic Loci, Tub neural - Malformacions, Medical Risk Factors, CTD, Collagens, Genètica, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce4f0caaa0cc483ec007e5cf94f88a6aTest
http://europepmc.org/articles/PMC8112708Test

المؤلفون: Estefanía Anguita, Jing Li, John M. Mariadason, Valentina Maggio, Lauri A. Aaltonen, Diego Arango, Rocio Nieto, Águeda Martínez-Barriocanal, Elia García-Vidal, Simó Schwartz, Paulo Rodrigues, Sarah Bazzocco, Higinio Dopeso, Alex Sánchez, Priscila Guimarães de Marcondes

المساهمون: Institut Català de la Salut, [Bazzocco S, Dopeso H, Anguita E, Nieto R, Li J, García-Vidal E, Maggio V, Rodrigues P, de Marcondes PG] Grup d'Investigació Biomèdica en Tumors de l'Aparell Digestiu, CIBBIM Nanomedicina, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Vall d’Hebron Hospital Universitari, Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. [Martínez-Barriocanal Á, Arango D] Grup d'Investigació Biomèdica en Tumors de l'Aparell Digestiu, CIBBIM Nanomedicina, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Vall d’Hebron Hospital Universitari, Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. Group of Molecular Oncology, IRBLleida, Lleida, Spain. [Schwartz S Jr] Grup de Lliurament i Orientació de Medicaments, CIBBIM Nanomedicina, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Vall d’Hebron Hospital Universitari, Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra Spain. CIBER de Bioingeniería, Biomateriales Y Nanomedicina (CIBER-BBN), Madrid, Spain, Vall d'Hebron Barcelona Hospital Campus, Lauri Antti Aaltonen / Principal Investigator, Department of Medical and Clinical Genetics, Medicum, University of Helsinki

المصدر: Clinical Epigenetics
Scientia
Dipòsit Digital de la UB
Universidad de Barcelona
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona

مصطلحات موضوعية: Recte - Càncer - Aspectes genètics, Colorectal cancer, fenómenos químicos::fenómenos bioquímicos::alquilación::metilación::metilación del ADN [FENÓMENOS Y PROCESOS], Epigenesis, Genetic, 0302 clinical medicine, Zinc finger, Gene expression, Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Genes, Neoplasm::Genes, Tumor Suppressor [PHENOMENA AND PROCESSES], Genes, Tumor Suppressor, Genetics (clinical), Exome sequencing, 0303 health sciences, Otros calificadores::Otros calificadores::/genética [Otros calificadores], 1184 Genetics, developmental biology, physiology, ADN - Metilació, Tumor suppressor, Methylation, neoplasias::neoplasias por localización::neoplasias del sistema digestivo::neoplasias gastrointestinales::neoplasias intestinales::neoplasias colorrectales [ENFERMEDADES], Chemical Phenomena::Biochemical Phenomena::Alkylation::Methylation::DNA Methylation [PHENOMENA AND PROCESSES], 3. Good health, ZBTB18, 030220 oncology & carcinogenesis, Metilació, Colorectal Neoplasms, 3122 Cancers, Còlon - Càncer - Aspectes genètics, Biology, 03 medical and health sciences, Neoplasms::Neoplasms by Site::Digestive System Neoplasms::Gastrointestinal Neoplasms::Intestinal Neoplasms::Colorectal Neoplasms [DISEASES], Càncer colorectal, Cell Line, Tumor, Other subheadings::Other subheadings::/genetics [Other subheadings], Genetics, medicine, Humans, Epigenetics, Molecular Biology, Gene, 030304 developmental biology, fenómenos genéticos::estructuras genéticas::genoma::componentes genómicos::genes::genes de neoplasias::genes supresores de tumores [FENÓMENOS Y PROCESOS], Research, Cancer, Microsatellite instability, DNA Methylation, medicine.disease, Repressor Proteins, Cancer research, 3111 Biomedicine, Developmental Biology, Genome-Wide Association Study

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6ab31fdfd17a0d3b9bca39f84989533Test
http://europepmc.org/articles/PMC8063439Test

المؤلفون: Sancho, Paula, Andrés-Bordería, Amparo, Gorría-Redondo, Nerea, Llano, Katia, Martínez-Rubio, Dolores, Yoldi-Petri, María Eugenia, Blumkin, Luba, Rodríguez de la Fuente, Pablo, Gil-Ortiz, Fernando, Fernández-Murga, Leonor, Sánchez-Monteagudo, Ana, Lupo, Vincenzo, Pérez-Dueñas, Belén, Espinós, Carmen, Aguilera-Albesa, Sergio, Universitat Autònoma de Barcelona

المساهمون: Institut Català de la Salut, [Sancho P, Martínez-Rubio D] Unit of Rare Neurodegenerative Diseases, Centro de Investigación Príncipe Felipe (CIPF), 46012 Valencia, Spain. [Andrés-Bordería A] Unit of Rare Neurodegenerative Diseases, Centro de Investigación Príncipe Felipe (CIPF), 46012 Valencia, Spain. Department of Physiology, Faculty of Medicine and Dentistry, University of Valencia, 46010 Valencia, Spain. [Gorría-Redondo N, Yoldi-Petri ME] Pediatric Neurology Unit, Department of Pediatrics, Complejo Hospitalario de Navarra, 31008 Pamplona, Spain. [Pérez-Dueñas B] Grup de Recerca en Neurologia Pediàtrica, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain, Vall d'Hebron Barcelona Hospital Campus

المصدر: International Journal of Molecular Sciences
Volume 22
Issue 5
International Journal of Molecular Sciences, Vol 22, Iss 2505, p 2505 (2021)
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Scientia

مصطلحات موضوعية: Male, 0301 basic medicine, Proband, Pathology, Protein Conformation, Sequence Homology, SPTBN2 gene, b-III spectrin, 030105 genetics & heredity, Fluid-attenuated inversion recovery, Cohort Studies, lcsh:Chemistry, Non-progressive congenital ataxia, 0302 clinical medicine, β-III spectrin, Spectrin, enfermedades del sistema nervioso::enfermedades neurodegenerativas [ENFERMEDADES], Age of Onset, Child, lcsh:QH301-705.5, Spectroscopy, Otros calificadores::Otros calificadores::/genética [Otros calificadores], Neurodegeneration, neurodegeneration, Neurodegenerative Diseases, non-progressive congenital ataxia, Syndrome, General Medicine, Phenotype, Hypotonia, Computer Science Applications, Nervous System Diseases::Neurodegenerative Diseases [DISEASES], Spinocerebellar ataxia, medicine.symptom, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Cerebellar Ataxia, Neuroimaging, Biology, Catalysis, Article, Inorganic Chemistry, 03 medical and health sciences, Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::Cerebellar Diseases::Cerebellar Ataxia [DISEASES], Other subheadings::Other subheadings::/genetics [Other subheadings], medicine, Humans, Amino Acid Sequence, Physical and Theoretical Chemistry, Molecular Biology, Genetic Association Studies, Organic Chemistry, medicine.disease, Hyperintensity, Sistema nerviós - Degeneració - Aspectes genètics, lcsh:Biology (General), lcsh:QD1-999, enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades cerebrales::enfermedades cerebelosas::ataxia cerebelosa [ENFERMEDADES], Mutation, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33d864457d3f818299c2330160bb9c62Test
http://europepmc.org/articles/PMC7958857Test

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: Marian A. Martínez-Balbás, Simona Iacobucci, Marta Lombardi, Natalia Padilla, Xavier de la Cruz, Marta Vicioso-Mantis, Claudia Navarro, Claudia Verderio, Martina Gabrielli

المساهمون: Ministerio de Economía y Competitividad (España), Ministerio de Ciencia, Innovación y Universidades (España), Agencia Estatal de Investigación (España), Consejo Superior de Investigaciones Científicas (España), Institut Català de la Salut, [Iacobucci S, Navarro C, Vicioso-Mantis M] Department of Molecular Genomics, Instituto de Biologıa Molecular de Barcelona (IBMB), Consejo Superior de Investigaciones Científicas (CSIC), Barcelona 08028, Spain. [Padilla N, de la Cruz X] Grup de Recerca en Bioinformàtica Clínica i Translacional, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Institut Català per la Recerca i Estudis Avançats (ICREA), Barcelona 08018, Spain. [Gabrielli M, Lombardi M] CNR Institute of Neuroscience, 20129 Milan, Italy, Vall d'Hebron Barcelona Hospital Campus

المصدر: Digital.CSIC. Repositorio Institucional del CSIC
instname
Scientia

مصطلحات موضوعية: enzimas y coenzimas::enzimas::oxidorreductasas::oxidorreductasas que actúan sobre donantes de grupos CH-NH::oxidorreductasas N-desmetilantes::histona desmetilasas [COMPUESTOS QUÍMICOS Y DROGAS], Transcription, Genetic, PHF8, Neurogenesis, Notch signaling pathway, Models, Biological, Histones, 03 medical and health sciences, Astrocyte differentiation, Mice, 0302 clinical medicine, Histone demethylation, Other subheadings::Other subheadings::/genetics [Other subheadings], Animals, Ratolins, Epigenetics, Molecular Biology, 030304 developmental biology, Cell Proliferation, Histone Demethylases, Neurons, 0303 health sciences, Binding Sites, XLID, biology, Otros calificadores::Otros calificadores::/genética [Otros calificadores], Enzymes and Coenzymes::Enzymes::Oxidoreductases::Oxidoreductases Acting on CH-NH Group Donors::Oxidoreductases, N-Demethylating::Histone Demethylases [CHEMICALS AND DRUGS], Gene Expression Profiling, Cell Differentiation, Epigenètica, Synapse, Chromatin, Cell biology, Histone, Gene Expression Regulation, NFIA, Astrocytes, Synapses, biology.protein, Chromatin transcription, Demethylase, 030217 neurology & neurosurgery, Biomarkers, Developmental Biology, Protein Binding, Transcription Factors

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1fff3e790d9a384a2359f7b79aeb3c8Test
https://pubmed.ncbi.nlm.nih.gov/34081130Test