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Journal Article
Medicina Clinica, ISSN 0025-7753, 10/2017, Volume 149, Issue 7, p. 322
En este artículo publicado anteriormente, se han citado erróneamente algunos de los componentes indicados en el anexo. Los datos correctos son: 
Journal Article
PLoS ONE, ISSN 1932-6203, 02/2013, Volume 8, Issue 2, p. e57241
Chiari malformation type I (CMI) is a disorder characterized by hindbrain overcrowding into an underdeveloped posterior cranial fossa (PCF), often causing... 
AXIAL SKELETON | RETINOIC ACID | LINKAGE DISEQUILIBRIUM | ANGIOGENESIS | POSTERIOR CRANIAL FOSSA | VASCULOGENESIS | NEURAL-TUBE DEFECTS | TYROSINE KINASE | MULTIDISCIPLINARY SCIENCES | GROWTH-FACTOR | EXPRESSION | Haplotypes | Homeodomain Proteins - metabolism | Humans | Middle Aged | Retinal Dehydrogenase - metabolism | Male | Risk | Somites - growth & development | Gene Expression Profiling | Cranial Fossa, Posterior - metabolism | Case-Control Studies | Gene Expression Regulation, Developmental | Adult | Female | Cranial Fossa, Posterior - growth & development | Rhombencephalon - growth & development | Somites - metabolism | Rhombencephalon - abnormalities | Genome-Wide Association Study | Morphogenesis - genetics | Retinal Dehydrogenase - genetics | Homeodomain Proteins - genetics | Arnold-Chiari Malformation - metabolism | Cranial Fossa, Posterior - abnormalities | Arnold-Chiari Malformation - genetics | Arnold-Chiari Malformation - pathology | Somites - abnormalities | Rhombencephalon - metabolism | Polymorphism, Single Nucleotide | Genes, Developmental | Bone morphogenetic proteins | Fibroblast growth factors | Genetic aspects | Single nucleotide polymorphisms | Health aspects | Genes | Pattern formation | Pediatrics | Brain | Nuclear magnetic resonance--NMR | Wnt protein | Pathogenesis | Congenital defects | Retinoic acid receptors | Mesoderm | Genomes | Somites | Single-nucleotide polymorphism | Neurosurgery | Defects | Proteins | Angiogenesis | Signal transduction | Pathways | Scoliosis | Etiology | Rodents | Genetics | Fibroblast growth factor receptor 1 | Bioinformatics | Neural tube defects | Fetuses | Somitogenesis | Fibroblast growth factor 8 | Risk analysis | Patients | Studies | Neurology | Signaling | Hospitals | Placenta | Acids | Magnetic resonance imaging | Overcrowding | Hindbrain | Skull | Mutation | Morphometry | Retinoic acid | Cerebellum | Gens | Malformacions | Cerebel | Human abnormalities | Nuclear magnetic resonance | NMR
Journal Article
Neuropediatrics, 10/2018, Volume 49, Issue 5, p. 355
Journal Article
by Anttila, Verneri and Bulik-Sullivan, Brendan and Finucane, Hilary K and Walters, Raymond K and Bras, Jose and Duncan, Laramie and Escott-Price, Valentina and Falcone, Guido J and Gormley, Padhraig and Malik, Rainer and Patsopoulos, Nikolaos A and Ripke, Stephan and Wei, Zhi and Yu, Dongmei and Lee, Phil H and Turley, Patrick and Grenier-Boley, Benjamin and Chouraki, Vincent and Kamatani, Yoichiro and Berr, Claudine and Letenneur, Luc and Hannequin, Didier and Amouyel, Philippe and Boland, Anne and Deleuze, Jean-François and Duron, Emmanuelle and Vardarajan, Badri N and Reitz, Christiane and Goate, Alison M and Huentelman, Matthew J and Ilyas Kamboh, M and Larson, Eric B and Rogaeva, Ekaterina and George-Hyslop, Peter St and Hakonarson, Hakon and Kukull, Walter A and Farrer, Lindsay A and Barnes, Lisa L and Beach, Thomas G and Yesim Demirci, F and Head, Elizabeth and Hulette, Christine M and Jicha, Gregory A and Kauwe, John S.K and Kaye, Jeffrey A and Leverenz, James B and Levey, Allan I and Lieberman, Andrew P and Pankratz, Vernon S and Poon, Wayne W and Quinn, Joseph F and Saykin, Andrew J and Schneider, Lon S and Smith, Amanda G and Sonnen, Joshua A and Stern, Robert A and Van Deerlin, Vivianna M and Van Eldik, Linda J and Harold, Denise and Russo, Giancarlo and Rubinsztein, David C and Bayer, Anthony and Tsolaki, Magda and Proitsi, Petra and Fox, Nick C and Hampel, Harald and Owen, Michael J and Mead, Simon and Passmore, Peter and Morgan, Kevin and Nöthen, Markus M and Rossor, Martin and Lupton, Michelle K and Hoffmann, Per and Kornhuber, Johannes and Lawlor, Brian and McQuillin, Andrew and Al-Chalabi, Ammar and Bis, Joshua C and Ruiz, Agustin and Boada, Mercè and Seshadri, Sudha and Beiser, Alexa and Rice, Kenneth and Van Der Lee, Sven J and De Jager, Philip L and Geschwind, Daniel H and Riemenschneider, Matthias and Riedel-Heller, Steffi and Rotter, Jerome I and Ransmayr, Gerhard and Hyman, Bradley T and Cruchaga, Carlos and Alegret, Montserrat and Winsvold, Bendik and Palta, Priit and Farh, Kai-How and Cuenca-Leon, Ester and Furlotte, Nicholas and Kurth, Tobias and ... and Brainstorm Consortium and The Brainstorm Consortium
Science, ISSN 0036-8075, 06/2018, Volume 360, Issue 6395, pp. 1313 - 1313
Disorders of the brain can exhibit considerable epidemiological comorbidity and often share symptoms, provoking debate about their etiologic overlap. We... 
ANOREXIA-NERVOSA | POPULATION-BASED TWIN | DEFICIT HYPERACTIVITY DISORDER | LONG-TERM SURVIVAL | ALZHEIMERS-DISEASE | MULTIDISCIPLINARY SCIENCES | GENETIC CORRELATIONS | BODY-MASS INDEX | MAJOR DEPRESSIVE DISORDER | BIPOLAR DISORDER | GENOME-WIDE ASSOCIATION | Genetic Variation | Mental Disorders - genetics | Genome-Wide Association Study | Phenotype | Brain Diseases - classification | Quantitative Trait, Heritable | Brain Diseases - diagnosis | Humans | Mental Disorders - classification | Risk Factors | Brain Diseases - genetics | Mental Disorders - diagnosis | Anorexia | Disorders | Cognitive ability | Bipolar disorder | Posttraumatic stress disorder | Mental depression | Epidemiology | Risk factors | Consortia | Proteins | Ischemia | Etiology | Classification | Gilles de la Tourette syndrome | Alzheimer's disease | Neurological disorders | Neurodegenerative diseases | Comorbidity | Behavior disorders | Anorexia nervosa | Risk analysis | Patients | Neurological diseases | Correlation analysis | Heritability | Attention deficit disorder | Headache | Mental disorders | Medical services | Schizophrenia | Risk sharing | Genomes | Heterogeneity | Biological effects | Risk assessment | Stroke | Phenotypes | Migraine | Attention deficit hyperactivity disorder | Eating disorders | Personality | Genetic diversity | Statistics | Activity patterns | Crohn's Disease | Population (statistical) | Scaffolding | Diagnostic systems | Alzheimers disease | Life Sciences | Human health and pathology | Mental Disorders | Neurons and Cognition | Brain Diseases | Genetics
Journal Article
Nature Genetics, ISSN 1061-4036, 07/2012, Volume 44, Issue 7, pp. 777 - 782
Journal Article
Muscle & Nerve, ISSN 0148-639X, 07/2018, Volume 58, Issue 1, pp. 157 - 160
Journal Article
Muscle & Nerve, ISSN 0148-639X, 07/2018, Volume 58, Issue 1, pp. 157 - 160
Introduction : Mutations in CLCN1 cause recessive or dominant forms of myotonia congenita (MC). Some mutations have been found to exhibit both patterns of... 
dominant‐negative | surface expression | myotonia | ClC‐1 | trafficking | ClC-1 | dominant-negative | SKELETAL-MUSCLE | CHLORIDE CHANNELS | GENE | NEUROSCIENCES | CLINICAL NEUROLOGY | Proteins | Missense mutation | Identification methods | Myotonia | Muscles | Heredity | Mutation | Oocytes | Membrane proteins
Journal Article
Neuropediatrics, ISSN 0174-304X, 10/2018, Volume 49, Issue 5, pp. 355 - 355
Journal Article
PLoS ONE, ISSN 1932-6203, 07/2012, Volume 7, Issue 7, p. e42148
Journal Article
Revista de Neurologia, ISSN 0210-0010, 07/2016, Volume 63, Issue 1, pp. 3 - 4
Journal Article
Medicina Clínica, ISSN 0025-7753, 2017, Volume 149, Issue 7, pp. 322 - 322
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 06/2016, Volume 53, Issue 6, pp. 403 - 418
Journal Article