{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T00:48:30Z","timestamp":1789692510445,"version":"4.0.1"},"reference-count":42,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2022,6,1]],"date-time":"2022-06-01T00:00:00Z","timestamp":1654041600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,6,1]],"date-time":"2022-06-01T00:00:00Z","timestamp":1654041600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2020,1,20]],"date-time":"2020-01-20T00:00:00Z","timestamp":1579478400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["clinicalkey.es","elsevier.es","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neurolog\u00eda"],"published-print":{"date-parts":[[2022,6]]},"DOI":"10.1016\/j.nrl.2019.05.003","type":"journal-article","created":{"date-parts":[[2019,7,17]],"date-time":"2019-07-17T17:32:15Z","timestamp":1563384735000},"page":"325-333","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":13,"title":["Manifestaciones neurol\u00f3gicas en neurofibromatosis tipo 1. Nuestra experiencia"],"prefix":"10.1016","volume":"37","author":[{"given":"S.B.","family":"S\u00e1nchez Marco","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"L\u00f3pez Pis\u00f3n","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Calvo Escribano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.","family":"Gonz\u00e1lez Viejo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.D.","family":"Miramar Gallart","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Samper Villagrasa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.nrl.2019.05.003_bib0215","series-title":"Nelson Tratado de Pediatr\u00eda.","first-page":"3002","article-title":"Neurofibromatosis type 1","author":"Sahin","year":"2016"},{"key":"10.1016\/j.nrl.2019.05.003_bib0220","series-title":"Neurofibromatosis.","first-page":"14","article-title":"Introducci\u00f3n e Historia. Epidemiolog\u00eda: Prevalencia","author":"Pascual-Castroviejo","year":"2001"},{"key":"10.1016\/j.nrl.2019.05.003_bib0225","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1177\/0883073812439435","article-title":"Attention skills in children with neurofibromatosis type 1","volume":"28","author":"Isenberg","year":"2013","journal-title":"J Child Neurol."},{"key":"10.1016\/j.nrl.2019.05.003_bib0230","doi-asserted-by":"crossref","first-page":"1048","DOI":"10.1007\/s00247-006-0267-2","article-title":"Age-related findings on MRI in neurofibromatosis type 1","volume":"36","author":"Gill","year":"2006","journal-title":"Pediatr Radiol."},{"key":"10.1016\/j.nrl.2019.05.003_bib0235","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1016\/j.nrl.2012.11.005","article-title":"Evoluci\u00f3n de la demanda asistencial neuropedi\u00e1trica en un hospital espa\u00f1ol de tercer nivel a lo largo de 20 a\u00f1os","volume":"29","author":"Monge-Galindo","year":"2014","journal-title":"Neurolog\u00eda."},{"key":"10.1016\/j.nrl.2019.05.003_bib0240","first-page":"44","article-title":"Protocolo de seguimiento de la neurofibromatosis tipo 1","volume":"1","author":"Guill\u00e9n \u2013Navarro","year":"2010","journal-title":"Protoc diagn ter pediatr."},{"key":"10.1016\/j.nrl.2019.05.003_bib0245","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1136\/jmg.2006.045906","article-title":"Guidelines for the diagnosis and management of individuals with neurofibromatosis 1","volume":"44","author":"Ferner","year":"2007","journal-title":"J Med Genet."},{"key":"10.1016\/j.nrl.2019.05.003_bib0250","first-page":"e346","article-title":"Importancia del seguimiento de la evoluci\u00f3n natural de las enfermedades raras. A prop\u00f3sito de un caso de neurofibromatosis 1","volume":"115","author":"S\u00e1nchez Marco","year":"2017","journal-title":"Arch Argent Pediatr"},{"key":"10.1016\/j.nrl.2019.05.003_bib0255","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1159\/000347119","article-title":"Elevated head circumference-to-height ratio is an early and frequent feature in children with neurofibromatosis type 1","volume":"79","author":"Karvonen","year":"2013","journal-title":"Horm Res Paediatr."},{"key":"10.1016\/j.nrl.2019.05.003_bib0260","doi-asserted-by":"crossref","first-page":"624","DOI":"10.1136\/jmg.35.8.624","article-title":"Minor disease features in neurofibromatosis type 1 (NF1) and their possible value in diagnosis of NF1 in children <or \u00bc 6 years and clinically suspected of having NF1. Neurofibromatosis team of Sophia Children's Hospital","volume":"35","author":"Cnossen","year":"1998","journal-title":"J Med Genet."},{"key":"10.1016\/j.nrl.2019.05.003_bib0265","doi-asserted-by":"crossref","first-page":"1540","DOI":"10.1177\/0883073816664659","article-title":"Macrocephaly is not a predictor of optic pathway glioma development or treatment in neurofibromatosis type 1","volume":"31","author":"Morris","year":"2016","journal-title":"J Child Neurol."},{"key":"10.1016\/j.nrl.2019.05.003_bib0270","first-page":"810","article-title":"Prospective evaluation of the brain in asymptomatic children with neurofibromatosis type 1: relationship of macrocephaly to T1 relaxation changes and structural brain abnormalities","volume":"22","author":"Steen","year":"2001","journal-title":"Am J Neuroradiol."},{"key":"10.1016\/j.nrl.2019.05.003_bib0275","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1186\/s11689-015-9128-3","article-title":"Cerebral volumetric abnormalities in Neurofibromatosis type 1: associations with parent ratings of social and attention problems, executive dysfunction, and autistic mannerisms","volume":"7","author":"Huijbregts","year":"2015","journal-title":"J Neurodev Disord."},{"key":"10.1016\/j.nrl.2019.05.003_bib0280","doi-asserted-by":"crossref","first-page":"2107","DOI":"10.1007\/s00381-011-1554-2","article-title":"Macrocephaly in\u00a0neurofibromatosis\u00a0type\u00a01: a sign post for optic pathway gliomas","volume":"27","author":"Schindera","year":"2011","journal-title":"Childs Nerv Syst."},{"key":"10.1016\/j.nrl.2019.05.003_bib0285","doi-asserted-by":"crossref","first-page":"939","DOI":"10.1016\/B978-0-444-52902-2.00053-9","article-title":"Neurofibromatosis type 1 (NF1): diagnosis and management","volume":"115","author":"Ferner","year":"2013","journal-title":"Handb Clin Neurol."},{"key":"10.1016\/j.nrl.2019.05.003_bib0290","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1111\/j.1469-8749.2002.tb00780.x","article-title":"Treatment of ADHD in neurofibromatosis type 1","volume":"44","author":"Mautner","year":"2002","journal-title":"Dev Med Child Neurol."},{"key":"10.1016\/j.nrl.2019.05.003_bib0295","first-page":"561","article-title":"Prevalence of sleep disorders in patients with neurofibromatosis type 1","volume":"30","author":"Mara\u00f1a-P\u00e9rez","year":"2015","journal-title":"Neurologia."},{"key":"10.1016\/j.nrl.2019.05.003_bib0300","doi-asserted-by":"crossref","DOI":"10.1186\/s13023-014-0142-4","article-title":"The effect of methylphenidate on neurofibromatosis type 1: a randomised, double-blind, placebo-controlled, crossover trial","author":"Lion-Fran\u00e7ois","year":"2014","journal-title":"Orphanet J Rare Dis. [Internet]."},{"key":"10.1016\/j.nrl.2019.05.003_bib0305","doi-asserted-by":"crossref","first-page":"1193","DOI":"10.1007\/s10802-012-9627-6","article-title":"Improving working memory in children with attention-deficit\/hyperactivity disorder: the separate and combined effects of incentives and stimulant medication","volume":"40","author":"Strand","year":"2012","journal-title":"J Abnorm Child Psychol."},{"key":"10.1016\/j.nrl.2019.05.003_bib0310","doi-asserted-by":"crossref","first-page":"2282","DOI":"10.1002\/ajmg.a.37186","article-title":"Prevalence and clinical presentation of headache in a National Neurofibromatosis 1 Service and impact on quality of life","volume":"167A","author":"Afridi","year":"2015","journal-title":"Am J Med Genet A."},{"key":"10.1016\/j.nrl.2019.05.003_bib0315","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1111\/j.1469-8749.2012.04399.x","article-title":"Behaviour in children with neurofibromatosis type 1: cognition, executive function, attention, emotion, and social competence","volume":"55","author":"Lehtonen","year":"2013","journal-title":"Dev Med Child Neurol."},{"key":"10.1016\/j.nrl.2019.05.003_bib0320","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1177\/08830738030180050501","article-title":"Epilepsy in neurofibromatosis 1","volume":"18","author":"Vivarelli","year":"2003","journal-title":"J Child Neurol."},{"key":"10.1016\/j.nrl.2019.05.003_bib0325","doi-asserted-by":"crossref","first-page":"1810","DOI":"10.1111\/epi.12348","article-title":"Epilepsy in individuals with neurofibromatosis type 1","volume":"54","author":"Ostendorf","year":"2013","journal-title":"Epilepsia"},{"key":"10.1016\/j.nrl.2019.05.003_bib0330","series-title":"The Causes of Epilepsy","first-page":"183","article-title":"The neurofibromatoses","author":"Ferner","year":"2011"},{"key":"10.1016\/j.nrl.2019.05.003_bib0335","doi-asserted-by":"crossref","first-page":"384","DOI":"10.1016\/j.eplepsyres.2013.02.021","article-title":"Epilepsy surgery in Neurofibromatosis Type 1","volume":"105","author":"Barba","year":"2013","journal-title":"Epilepsy Res"},{"key":"10.1016\/j.nrl.2019.05.003_bib0340","unstructured":"Friedmann JM. Neurofibromatosis 1. En Adam MP, Ardinger HH, Pagon RA, et al., editores. Gene Reviews. [Internet]. Seattle (WA): University of Washington,Seattle;1993-2018 [actualizado 17 May 2018; consultado 3 Nov 2018] Disponible en: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1109\/."},{"key":"10.1016\/j.nrl.2019.05.003_bib0345","doi-asserted-by":"crossref","first-page":"721","DOI":"10.1148\/radiology.195.3.7754001","article-title":"Neurofibromatosis type 1: pathologic substrate of high-signal-intensity foci in the brain","volume":"195","author":"DiPaolo","year":"1995","journal-title":"Radiology"},{"key":"10.1016\/j.nrl.2019.05.003_bib0350","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1111\/j.1469-8749.2011.04139.x","article-title":"Neurofibromatosis type 1 and cerebellar T2-hyperintensities: the relationship to cognitive functioning","volume":"54","author":"Piscitelli","year":"2012","journal-title":"Dev Med Child Neurol."},{"key":"10.1016\/j.nrl.2019.05.003_bib0355","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1037\/neu0000151","article-title":"Examining the frontal subcortical brain vulnerability hypothesis in children with neurofibromatosis type 1: Are T2-weighted hyperintensities related to executive dysfunction?","volume":"29","author":"Roy","year":"2015","journal-title":"Neuropsychology."},{"key":"10.1016\/j.nrl.2019.05.003_bib0360","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1016\/j.critrevonc.2016.05.008","article-title":"Neurofibromatosis type 1 associated low grade gliomas: A comparison with sporadic low grade gliomas","volume":"104","author":"Helfferich","year":"2016","journal-title":"Crit Rev Oncol Hematol."},{"key":"10.1016\/j.nrl.2019.05.003_bib0365","doi-asserted-by":"crossref","first-page":"530","DOI":"10.33588\/rn.4609.2008021","article-title":"Neurofibromatosis tipo 1 y gliomas de v\u00edas \u00f3pticas. Una serie de 80 pacientes","volume":"46","author":"Pascual-Castroviejo","year":"2008","journal-title":"Rev Neurol."},{"key":"10.1016\/j.nrl.2019.05.003_bib0370","doi-asserted-by":"crossref","first-page":"646","DOI":"10.1001\/jamaophthalmol.2013.1652","article-title":"Optic pathway gliomas: neoplasms, not hamartomas","volume":"131","author":"Liu","year":"2013","journal-title":"JAMA Ophthalmol."},{"key":"10.1016\/j.nrl.2019.05.003_bib0375","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1016\/j.pediatrneurol.2012.02.001","article-title":"Cognitive profiles of neurofibromatosis type 1 patients with minor brain malformations","volume":"46","author":"Acosta","year":"2012","journal-title":"Pediatr Neurol."},{"key":"10.1016\/j.nrl.2019.05.003_bib0380","doi-asserted-by":"crossref","first-page":"500","DOI":"10.1001\/archneur.55.4.500","article-title":"Magnetic resonance imaging lesion analysis in neurofibromatosis type 1","volume":"55","author":"DiMario","year":"1998","journal-title":"Arch Neurol."},{"key":"10.1016\/j.nrl.2019.05.003_bib0385","doi-asserted-by":"crossref","first-page":"S469","DOI":"10.4103\/2152-7806.185778","article-title":"Neurofibromatosis type 1 and Chiari type 1 malformation: A case report and literature review of a rare association","volume":"7","author":"Pozetti","year":"2016","journal-title":"Surg Neurol Int."},{"key":"10.1016\/j.nrl.2019.05.003_bib0390","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1177\/088307389300800417","article-title":"Bilateral temporal arachnoid cysts in neurofibromatosis","volume":"8","author":"Mart\u00ednez-Lage","year":"1993","journal-title":"J Child Neurol."},{"key":"10.1016\/j.nrl.2019.05.003_bib0395","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1111\/j.1755-3768.2008.01431.x","article-title":"Arachnoid cyst causing an optic neuropathy in neurofibromatosis 1","volume":"88","author":"Wegener","year":"2010","journal-title":"Acta Ophthalmol."},{"key":"10.1016\/j.nrl.2019.05.003_bib0400","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1016\/j.jns.2015.02.023","article-title":"Occurrence of multiple cerebral cavernous malformations in a patient with neurofibromatosis type 1","volume":"350","author":"Rerat","year":"2015","journal-title":"J Neurol Sci."},{"key":"10.1016\/j.nrl.2019.05.003_bib0405","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1093\/brain\/122.3.473","article-title":"Neurological complications of neurofibromatosis type 1 in adulthood","volume":"122","author":"Creange","year":"1999","journal-title":"Brain"},{"key":"10.1016\/j.nrl.2019.05.003_bib0410","doi-asserted-by":"crossref","first-page":"18","DOI":"10.33588\/rn.4501.2006344","article-title":"[Aqueductal stenosis in the neurofibromatosis type 1.Presentation of 19 infantile patients]","volume":"45","author":"Pascual-Castroviejo","year":"2007","journal-title":"Rev Neurol"},{"key":"10.1016\/j.nrl.2019.05.003_bib0415","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1186\/1750-1172-7-75","article-title":"Growth dynamics of plexiform neurofibromas: a retrospective cohort study of 201 patients with neurofibromatosis 1","volume":"7","author":"Nguyen","year":"2012","journal-title":"Orphanet J Rare Dis."},{"key":"10.1016\/j.nrl.2019.05.003_bib0420","doi-asserted-by":"crossref","unstructured":"Dombi E, Baldwin A, Marcus LJ, Fisher MJ, Weiss B, Kim A, et al. Activity of Selumetinib in Neurofibromatosis Type 1\u2013Related Plexiform Neurofibromas. N Engl J Med.; 375(26): 2550-2560. https:\/\/doi.org\/10.1056\/NEJMoa1605943.","DOI":"10.1056\/NEJMoa1605943"}],"container-title":["Neurolog\u00eda"],"original-title":[],"language":"es","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0213485319300775?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0213485319300775?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,7,10]],"date-time":"2026-07-10T14:02:17Z","timestamp":1783692137000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0213485319300775"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,6]]},"references-count":42,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2022,6]]}},"alternative-id":["S0213485319300775"],"URL":"https:\/\/doi.org\/10.1016\/j.nrl.2019.05.003","relation":{},"ISSN":["0213-4853"],"issn-type":[{"value":"0213-4853","type":"print"}],"subject":[],"published":{"date-parts":[[2022,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Manifestaciones neurol\u00f3gicas en neurofibromatosis tipo 1. Nuestra experiencia","name":"articletitle","label":"Article Title"},{"value":"Neurolog\u00eda","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nrl.2019.05.003","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2019 Sociedad Espa\u00f1ola de Neurolog\u00eda. Published by Elsevier Espa\u00f1a, S.L.U.","name":"copyright","label":"Copyright"}]}}