{"id":"https://openalex.org/W2292159155","doi":"https://doi.org/10.33588/rn.2801.98359","title":"Estudio del s\u00edndrome de Rett en la poblaci\u00f3n espa\u00f1ola","display_name":"Estudio del s\u00edndrome de Rett en la poblaci\u00f3n espa\u00f1ola","publication_year":1999,"publication_date":"1999-01-01","ids":{"openalex":"https://openalex.org/W2292159155","doi":"https://doi.org/10.33588/rn.2801.98359","mag":"2292159155","pmid":"https://pubmed.ncbi.nlm.nih.gov/10101777"},"language":"es","primary_location":{"id":"doi:10.33588/rn.2801.98359","doi":"https://doi.org/10.33588/rn.2801.98359","is_oa":false,"landing_page_url":"https://doi.org/10.33588/rn.2801.98359","pdf_url":null,"source":{"id":"https://openalex.org/S184263677","display_name":"Revista de Neurolog\u00eda","issn_l":"0210-0010","issn":["0210-0010","1576-6578"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","jufo-1","ki-jl-1","medline","norway-1","poland-20","russia-white-list-3"],"host_organization":"https://openalex.org/P4322632785","host_organization_name":"Viguera Publishers","host_organization_lineage":["https://openalex.org/P4322632785"],"host_organization_lineage_names":["Viguera Publishers"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Revista de Neurolog\u00eda","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5112417046","display_name":"Merc\u00e8 Pineda Marf\u00e0","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Merc\u00e8 Pineda Marf\u00e0","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5078130725","display_name":"Ma Asunci\u00f3n Aracil Mart\u00ednez","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"M\u00aa Asunci\u00f3n Aracil Mart\u00ednez","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5072686181","display_name":"Ana Mar\u00eda Vernet Bori","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Ana Mar\u00eda Vernet Bori","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113881826","display_name":"M. Espada","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"M. Espada","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5029093093","display_name":"Erik Cobo","orcid":"https://orcid.org/0000-0002-3534-5602","observed_orcids":["https://orcid.org/0000-0002-3534-5602"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"E. Cobo","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5086818336","display_name":"Rafael Arteaga Mor\u00f3n","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Rafael Arteaga Mor\u00f3n","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5052985221","display_name":"Josep Artigas Pallar\u00e9s","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Josep Artigas Pallar\u00e9s","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":null,"display_name":"C. Barrionuevo","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"C. Barrionuevo","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":null,"display_name":"L. Bautista Gonz\u00e1lez","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"L. Bautista Gonz\u00e1lez","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5088372862","display_name":"R. Berenguer Molla","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"R. Berenguer Molla","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":null,"display_name":"J. Caballero","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"J. Caballero","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5019412572","display_name":"Jos\u00e9 Luis Bravo Cabrera","orcid":"https://orcid.org/0000-0002-4106-8226","observed_orcids":["https://orcid.org/0000-0002-4106-8226"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"J. Cabrera","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111820678","display_name":"Jaume Campistol Plana","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Jaume Campistol Plana","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5064920732","display_name":"Jaime Campos Castell\u00f3","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Jaime Campos Castell\u00f3","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5032226273","display_name":"Carlos Casas Fern\u00e1ndez","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Carlos Casas Fern\u00e1ndez","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":null,"display_name":"M. Castell\u00f3","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"M. Castell\u00f3","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110313696","display_name":"Manuel Castro Gago","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Manuel Castro Gago","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5036669182","display_name":"Ignacio Pascual Castroviejo","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Ignacio Pascual Castroviejo","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5034869543","display_name":"Jaume Colomer Oferil","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Jaume Colomer Oferil","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108953518","display_name":"Paulo Gabriel Godinho Delgado","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"P. Delgado","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5022668687","display_name":"Virginia P\u00e9rez\u2010Fern\u00e1ndez","orcid":"https://orcid.org/0000-0003-1877-3055","observed_orcids":["https://orcid.org/0000-0003-1877-3055"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Virginia P\u00e9rez Fern\u00e1ndez","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5008382828","display_name":"Arias Jim\u00e9nez","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"A. Dom\u00ednguez Jim\u00e9nez","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5054513001","display_name":"Emilio Fern\u00e1ndez \u00c1lvarez","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Emilio Fern\u00e1ndez \u00c1lvarez","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":null,"display_name":"J. Garc\u00eda Aymerich","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"J. Garc\u00eda Aymerich","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5074037911","display_name":"\u00c1lvaro Campillo","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"A. Garc\u00eda Campillo","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":null,"display_name":"Asunci\u00f3n Garc\u00eda P\u00e9rez","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Asunci\u00f3n Garc\u00eda P\u00e9rez","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112539188","display_name":"J. Jover","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"J. Jover","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":null,"display_name":"V. Hern\u00e1ndez","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"V. Hern\u00e1ndez","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5008416568","display_name":"Jos\u00e9 Lu\u00eds Herranz Fern\u00e1ndez","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Jos\u00e9 Luis Herranz Fern\u00e1ndez","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":null,"display_name":"M. Herrera","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"M. Herrera","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5015842739","display_name":"Diego Mora L\u00f3pez","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Diego Mora L\u00f3pez","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5057247519","display_name":"Fernando Mulas Delgado","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Fernando Mulas Delgado","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103619142","display_name":"Juan Narbona Garc\u00eda","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Juan Narbona Garc\u00eda","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5069114598","display_name":"Manuel Nieto Barrera","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Manuel Nieto Barrera","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5000431527","display_name":"Ma Teresa Lartigau Fabregas","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"M\u00aa Teresa Lartigau Fabregas","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5060503946","display_name":"Valent\u00edn L\u00f3pez Mart\u00edn","orcid":"https://orcid.org/0000-0002-9189-7583","observed_orcids":["https://orcid.org/0000-0002-9189-7583"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Valent\u00edn L\u00f3pez Mart\u00edn","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5015251729","display_name":"Javier L\u00f3pez Pis\u00f3n","orcid":"https://orcid.org/0000-0002-1876-1495","observed_orcids":["https://orcid.org/0000-0002-1876-1495","https://orcid.org/0009-0000-4860-4194"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Javier L\u00f3pez Pis\u00f3n","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5055710318","display_name":"Isabel Lorente Hurtado","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Isabel Lorente Hurtado","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111792803","display_name":"Angelica Ortiz","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"A. Ortiz","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5056734480","display_name":"Rafael Palencia Luaces","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Rafael Palencia Luaces","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111620578","display_name":"Poo Arg\u00fcelles P","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"P. Poo","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103345572","display_name":"Jos\u00e9 Mar\u00eda Prats Vi\u00f1as","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Jos\u00e9 Mar\u00eda Prats Vi\u00f1as","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5015026812","display_name":"Rosario Domingo Jim\u00e9nez","orcid":"https://orcid.org/0000-0001-5115-194X","observed_orcids":["https://orcid.org/0000-0001-5115-194X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Rosario Domingo Jim\u00e9nez","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":null,"display_name":"C. Rayo","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"C. Rayo","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5023128542","display_name":"A. Carlos Rodr\u00edguez Barrionuevo","orcid":"https://orcid.org/0009-0003-4229-2697","observed_orcids":["https://orcid.org/0009-0003-4229-2697"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"A. Carlos Rodr\u00edguez Barrionuevo","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039542575","display_name":"Trinidad Rodr\u00edguez Costa","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Trinidad Rodr\u00edguez Costa","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113726927","display_name":"Manuel Roig-Quilis","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Manel Roig Quilis","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":null,"display_name":"S. S\u00e1nchez Valiente","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"S. S\u00e1nchez Valiente","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5012900263","display_name":"Anna Sans Fit\u00f3","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Anna Sans Fit\u00f3","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5032197286","display_name":"Jos\u00e9 Ramiro Santos Borbujo","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Jos\u00e9 Ramiro Santos Borbujo","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5042559280","display_name":"Francesc Xavier Sanmart\u00ed Vilaplana","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Francesc Xavier Sanmart\u00ed Vilaplana","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039902297","display_name":"Jes\u00fas Garc\u00eda Tena","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Jes\u00fas Garc\u00eda Tena","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027831621","display_name":"A. Uganda","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"A. Uganda","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5062986839","display_name":"Ram\u00f3n Sanahuja","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Ram\u00f3n Vidal Sanahuja","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.3024,"has_fulltext":false,"cited_by_count":15,"citation_normalized_percentile":{"value":0.56797616,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":95},"biblio":{"volume":"28","issue":"01","first_page":"105","last_page":"105"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":1.0,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":1.0,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10106","display_name":"Autism Spectrum Disorder Research","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2805","display_name":"Cognitive Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T13393","display_name":"Child Nutrition and Feeding Issues","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2738","display_name":"Psychiatry and Mental health"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/rett-syndrome","display_name":"Rett syndrome","score":1.0},{"id":"https://openalex.org/keywords/clinical-phenotype","display_name":"clinical phenotype","score":0.675000011920929},{"id":"https://openalex.org/keywords/geographic-distribution","display_name":"geographic distribution","score":0.7350000143051147},{"id":"https://openalex.org/keywords/case-series","display_name":"case series","score":0.44999998807907104},{"id":"https://openalex.org/keywords/prognosis","display_name":"prognosis","score":0.5860000252723694},{"id":"https://openalex.org/keywords/spanish-population","display_name":"Spanish population","score":0.5320000052452087}],"concepts":[{"id":"https://openalex.org/C2777543196","wikidata":"https://www.wikidata.org/wiki/Q917357","display_name":"Rett syndrome","level":3,"score":0.8006775379180908},{"id":"https://openalex.org/C15708023","wikidata":"https://www.wikidata.org/wiki/Q80083","display_name":"Humanities","level":1,"score":0.5642274618148804},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5219321250915527},{"id":"https://openalex.org/C142362112","wikidata":"https://www.wikidata.org/wiki/Q735","display_name":"Art","level":0,"score":0.2224264144897461},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.11616545915603638},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007223","descriptor_name":"Infant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013030","descriptor_name":"Spain","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D015518","descriptor_name":"Rett Syndrome","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":true},{"descriptor_ui":"D017677","descriptor_name":"Age Distribution","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.33588/rn.2801.98359","doi":"https://doi.org/10.33588/rn.2801.98359","is_oa":false,"landing_page_url":"https://doi.org/10.33588/rn.2801.98359","pdf_url":null,"source":{"id":"https://openalex.org/S184263677","display_name":"Revista de Neurolog\u00eda","issn_l":"0210-0010","issn":["0210-0010","1576-6578"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","jufo-1","ki-jl-1","medline","norway-1","poland-20","russia-white-list-3"],"host_organization":"https://openalex.org/P4322632785","host_organization_name":"Viguera Publishers","host_organization_lineage":["https://openalex.org/P4322632785"],"host_organization_lineage_names":["Viguera Publishers"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Revista de Neurolog\u00eda","raw_type":"journal-article"},{"id":"pmid:10101777","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/10101777","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Revista de neurologia","raw_type":"English Abstract"},{"id":"mag:2186921678","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/10101777","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":"PubMed","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9763000011444092,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":14,"referenced_works":["https://openalex.org/W590925561","https://openalex.org/W1969677792","https://openalex.org/W1974761508","https://openalex.org/W1999595399","https://openalex.org/W2002374079","https://openalex.org/W2018935071","https://openalex.org/W2063840478","https://openalex.org/W2078795444","https://openalex.org/W2091774285","https://openalex.org/W2134897881","https://openalex.org/W2139842232","https://openalex.org/W2327022120","https://openalex.org/W2418871054","https://openalex.org/W4205608485"],"related_works":["https://openalex.org/W1036249589","https://openalex.org/W2279237690","https://openalex.org/W2732908868","https://openalex.org/W3008314889","https://openalex.org/W2482956969","https://openalex.org/W2152426648","https://openalex.org/W7024221732","https://openalex.org/W3160546408","https://openalex.org/W4300633651","https://openalex.org/W2044553416"],"abstract_inverted_index":{"INTRODUCTION":[0],"AND":[1,53,142],"OBJECTIVE:":[2],"Rett":[3],"syndrome":[4],"was":[5,30,93,121,138],"described":[6],"in":[7,17,36,43,177],"1966":[8],"and":[9,22,38,49,60,72,84,96,106,112,130,135,154,157],"became":[10],"known":[11],"through":[12],"the":[13,33,63,80,97,102,107,110,147,150,175,178],"English":[14],"medical":[15],"literature":[16],"1983.":[18],"There":[19],"are":[20],"typical":[21,153],"atypical":[23,155],"forms.":[24],"The":[25,144],"objective":[26],"of":[27,57,65,67,104,109,119,133,161,174],"this":[28],"study":[29,126,132,160],"to":[31,45],"record":[32],"cases":[34,59,156],"diagnosed":[35],"Spain":[37],"discover":[39],"their":[40],"clinical":[41,166],"characteristics":[42],"order":[44],"describe":[46],"its":[47],"phenotype":[48],"geographical":[50],"distribution.":[51],"PATIENTS":[52],"METHODS:":[54],"We":[55],"know":[56],"207":[58],"have":[61],"obtained":[62],"records":[64],"168":[66],"these":[68,116],"patients.":[69],"A":[70,124],"protocol":[71],"data":[73,85,98,167],"collection":[74,92],"programme":[75],"has":[76,164],"been":[77],"developed":[78],"giving":[79],"criteria":[81],"for":[82,99,172],"inclusion,":[83],"which":[86,168],"support":[87],"or":[88],"exclude":[89],"this.":[90],"Data":[91],"by":[94],"post":[95],"identification":[100],"were":[101],"date":[103],"birth":[105],"initials":[108],"name":[111],"two":[113],"surnames.":[114],"With":[115],"variables,":[117],"double-registering":[118],"patients":[120],"almost":[122],"impossible.":[123],"statistical":[125],"with":[127],"descriptive":[128],"analysis":[129],"a":[131,158],"continuous":[134],"alternating":[136],"variables":[137],"immediately":[139],"done.":[140],"RESULTS":[141],"CONCLUSION:":[143],"results":[145],"gave":[146],"main":[148],"characteristics,":[149],"differences":[151],"between":[152],"comparative":[159],"variables.":[162],"It":[163],"given":[165],"may":[169],"be":[170],"useful":[171],"prognosis":[173],"condition":[176],"future.":[179]},"counts_by_year":[{"year":2023,"cited_by_count":1},{"year":2016,"cited_by_count":1},{"year":2014,"cited_by_count":2},{"year":2012,"cited_by_count":1}],"updated_date":"2026-11-08T12:12:28.789561","created_date":"2016-06-24T00:00:00"}