{"id":"https://openalex.org/W2004470734","doi":"https://doi.org/10.1055/s-0034-1386762","title":"Congenital Brain Abnormalities: An Update on Malformations of Cortical Development and Infratentorial Malformations","display_name":"Congenital Brain Abnormalities: An Update on Malformations of Cortical Development and Infratentorial Malformations","publication_year":2014,"publication_date":"2014-09-05","ids":{"openalex":"https://openalex.org/W2004470734","doi":"https://doi.org/10.1055/s-0034-1386762","mag":"2004470734","pmid":"https://pubmed.ncbi.nlm.nih.gov/25192502"},"language":"en","primary_location":{"id":"doi:10.1055/s-0034-1386762","doi":"https://doi.org/10.1055/s-0034-1386762","is_oa":false,"landing_page_url":"https://doi.org/10.1055/s-0034-1386762","pdf_url":null,"source":{"id":"https://openalex.org/S144243704","display_name":"Seminars in Neurology","issn_l":"0271-8235","issn":["0271-8235","1098-9021"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","doyens","jufo-1","medline","norway-1","poland-70","russia-white-list-2"],"host_organization":"https://openalex.org/P4310320000","host_organization_name":"Thieme Medical Publishers (Germany)","host_organization_lineage":["https://openalex.org/P4310320000"],"host_organization_lineage_names":["Thieme Medical Publishers (Germany)"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Seminars in Neurology","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","datacite","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://doi.org/10.5167/uzh-105357","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5068002114","display_name":"Eugen Boltshauser","orcid":"https://orcid.org/0000-0002-0791-2905","observed_orcids":["https://orcid.org/0000-0002-0791-2905"]},"institutions":[{"id":"https://openalex.org/I4210128593","display_name":"University Children's Hospital Zurich","ror":"https://ror.org/035vb3h42","country_code":"CH","type":"healthcare","lineage":["https://openalex.org/I4210128593"]}],"countries":["CH"],"is_corresponding":false,"raw_author_name":"Eugen Boltshauser","raw_affiliation_strings":["Division of Pediatric Neurology, University Children's Hospital, Zurich, Switzerland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Pediatric Neurology, University Children's Hospital, Zurich, Switzerland","institution_ids":["https://openalex.org/I4210128593"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5074269614","display_name":"Thierry A.G.M. Huisman","orcid":"https://orcid.org/0000-0003-2302-6724","observed_orcids":["https://orcid.org/0000-0003-2302-6724"]},"institutions":[{"id":"https://openalex.org/I145311948","display_name":"Johns Hopkins University","ror":"https://ror.org/00za53h95","country_code":"US","type":"education","lineage":["https://openalex.org/I145311948"]},{"id":"https://openalex.org/I2799853436","display_name":"Johns Hopkins Medicine","ror":"https://ror.org/037zgn354","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I2799853436"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Thierry Huisman","raw_affiliation_strings":["Section of Pediatric Neuroradiology, Division of Pediatric Radiology, The Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Baltimore, Maryland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Section of Pediatric Neuroradiology, Division of Pediatric Radiology, The Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Baltimore, Maryland","institution_ids":["https://openalex.org/I145311948","https://openalex.org/I2799853436"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5012493801","display_name":"Andrea Poretti","orcid":"https://orcid.org/0000-0002-9594-3858","observed_orcids":["https://orcid.org/0000-0002-9594-3858"]},"institutions":[{"id":"https://openalex.org/I145311948","display_name":"Johns Hopkins University","ror":"https://ror.org/00za53h95","country_code":"US","type":"education","lineage":["https://openalex.org/I145311948"]},{"id":"https://openalex.org/I2799853436","display_name":"Johns Hopkins Medicine","ror":"https://ror.org/037zgn354","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I2799853436"]},{"id":"https://openalex.org/I4210128593","display_name":"University Children's Hospital Zurich","ror":"https://ror.org/035vb3h42","country_code":"CH","type":"healthcare","lineage":["https://openalex.org/I4210128593"]}],"countries":["CH","US"],"is_corresponding":true,"raw_author_name":"Andrea Poretti","raw_affiliation_strings":["Section of Pediatric Neuroradiology, Division of Pediatric Radiology, The Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Baltimore, Maryland","Division of Pediatric Neurology, University Children's Hospital, Zurich, Switzerland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Section of Pediatric Neuroradiology, Division of Pediatric Radiology, The Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Baltimore, Maryland","institution_ids":["https://openalex.org/I145311948","https://openalex.org/I2799853436"]},{"raw_affiliation_string":"Division of Pediatric Neurology, University Children's Hospital, Zurich, Switzerland","institution_ids":["https://openalex.org/I4210128593"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5012493801"],"corresponding_institution_ids":["https://openalex.org/I145311948","https://openalex.org/I2799853436","https://openalex.org/I4210128593"],"apc_list":null,"apc_paid":null,"fwci":1.5938,"has_fulltext":false,"cited_by_count":20,"citation_normalized_percentile":{"value":0.83133403,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":98},"biblio":{"volume":"34","issue":"03","first_page":"239","last_page":"248"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12552","display_name":"Fetal and Pediatric Neurological Disorders","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2735","display_name":"Pediatrics, Perinatology and Child Health"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T12552","display_name":"Fetal and Pediatric Neurological Disorders","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2735","display_name":"Pediatrics, Perinatology and Child Health"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11833","display_name":"Spinal Dysraphism and Malformations","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Clinical Neurology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11184","display_name":"Neonatal and fetal brain pathology","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2735","display_name":"Pediatrics, Perinatology and Child 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/congenital-brain-malformation","display_name":"congenital brain malformation","score":0.8980000019073486},{"id":"https://openalex.org/keywords/malformations-of-cortical-development","display_name":"malformations of cortical development","score":0.9639999866485596},{"id":"https://openalex.org/keywords/tubulinopathy","display_name":"tubulinopathy","score":1.0},{"id":"https://openalex.org/keywords/pathogenesis","display_name":"pathogenesis","score":0.8140000104904175},{"id":"https://openalex.org/keywords/family-counseling","display_name":"family counseling","score":0.6039999723434448}],"concepts":[{"id":"https://openalex.org/C58693492","wikidata":"https://www.wikidata.org/wiki/Q551875","display_name":"Neuroimaging","level":2,"score":0.8773003816604614},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.8574932813644409},{"id":"https://openalex.org/C3019607859","wikidata":"https://www.wikidata.org/wiki/Q727096","display_name":"Congenital malformations","level":3,"score":0.6499484181404114},{"id":"https://openalex.org/C2984223407","wikidata":"https://www.wikidata.org/wiki/Q1345738","display_name":"Brain development","level":2,"score":0.5037834048271179},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.45639532804489136},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.3404451608657837},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.32133644819259644},{"id":"https://openalex.org/C177713679","wikidata":"https://www.wikidata.org/wiki/Q679690","display_name":"Intensive care medicine","level":1,"score":0.32116514444351196},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.2136664092540741},{"id":"https://openalex.org/C2779234561","wikidata":"https://www.wikidata.org/wiki/Q11995","display_name":"Pregnancy","level":2,"score":0.09865126013755798},{"id":"https://openalex.org/C15744967","wikidata":"https://www.wikidata.org/wiki/Q9418","display_name":"Psychology","level":0,"score":0.07016733288764954},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.0},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.0}],"mesh":[{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001921","descriptor_name":"Brain","qualifier_ui":"Q000002","qualifier_name":"abnormalities","is_major_topic":true},{"descriptor_ui":"D001921","descriptor_name":"Brain","qualifier_ui":"Q000254","qualifier_name":"growth & development","is_major_topic":false},{"descriptor_ui":"D001921","descriptor_name":"Brain","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009421","descriptor_name":"Nervous System Malformations","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D009421","descriptor_name":"Nervous System Malformations","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D011379","descriptor_name":"Prognosis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D054220","descriptor_name":"Malformations of Cortical Development","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D054220","descriptor_name":"Malformations of Cortical Development","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D059906","descriptor_name":"Neuroimaging","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":5,"locations":[{"id":"doi:10.1055/s-0034-1386762","doi":"https://doi.org/10.1055/s-0034-1386762","is_oa":false,"landing_page_url":"https://doi.org/10.1055/s-0034-1386762","pdf_url":null,"source":{"id":"https://openalex.org/S144243704","display_name":"Seminars in Neurology","issn_l":"0271-8235","issn":["0271-8235","1098-9021"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","doyens","jufo-1","medline","norway-1","poland-70","russia-white-list-2"],"host_organization":"https://openalex.org/P4310320000","host_organization_name":"Thieme Medical Publishers (Germany)","host_organization_lineage":["https://openalex.org/P4310320000"],"host_organization_lineage_names":["Thieme Medical Publishers (Germany)"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Seminars in Neurology","raw_type":"journal-article"},{"id":"pmid:25192502","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/25192502","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":"Seminars in neurology","raw_type":"Journal Article"},{"id":"pmh:oai:www.zora.uzh.ch:105357","doi":null,"is_oa":false,"landing_page_url":"https://www.zora.uzh.ch/id/eprint/105357/1/PorettiA%2C%202014.pdf","pdf_url":"https://www.zora.uzh.ch/id/eprint/105357/1/PorettiA%2C%202014.pdf","source":{"id":"https://openalex.org/S4306401281","display_name":"Zurich Open Repository and Archive (University of Zurich)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I202697423","host_organization_name":"University of Zurich","host_organization_lineage":["https://openalex.org/I202697423"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"Poretti, Andrea; Boltshauser, Eugen; Huisman, Thierry A G M (2014). Congenital brain abnormalities: an update on malformations of cortical development and infratentorial malformations. Seminars in Neurology, 34(3):239-248.","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:www.zora.uzh.ch:20.500.14742/83712","doi":null,"is_oa":false,"landing_page_url":"https://www.zora.uzh.ch/handle/20.500.14742/83712","pdf_url":null,"source":{"id":"https://openalex.org/S4306401281","display_name":"Zurich Open Repository and Archive (University of Zurich)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I202697423","host_organization_name":"University of Zurich","host_organization_lineage":["https://openalex.org/I202697423"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Poretti, A., Boltshauser, E., & Huisman, T. A. G. M. (2014). Congenital brain abnormalities: an update on malformations of cortical development and infratentorial malformations. Seminars in Neurology, 34, 239\u2013248. https://doi.org/10.1055/s-0034-1386762","raw_type":"Journal Article"},{"id":"doi:10.5167/uzh-105357","doi":"https://doi.org/10.5167/uzh-105357","is_oa":true,"landing_page_url":"https://doi.org/10.5167/uzh-105357","pdf_url":null,"source":{"id":"https://openalex.org/S4306401281","display_name":"Zurich Open Repository and Archive (University of Zurich)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I202697423","host_organization_name":"University of Zurich","host_organization_lineage":["https://openalex.org/I202697423"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"JournalArticle"}],"best_oa_location":{"id":"doi:10.5167/uzh-105357","doi":"https://doi.org/10.5167/uzh-105357","is_oa":true,"landing_page_url":"https://doi.org/10.5167/uzh-105357","pdf_url":null,"source":{"id":"https://openalex.org/S4306401281","display_name":"Zurich Open Repository and Archive (University of Zurich)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I202697423","host_organization_name":"University of Zurich","host_organization_lineage":["https://openalex.org/I202697423"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"JournalArticle"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.8560000061988831}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":46,"referenced_works":["https://openalex.org/W272548917","https://openalex.org/W1512501893","https://openalex.org/W1932575369","https://openalex.org/W1970579968","https://openalex.org/W1974757039","https://openalex.org/W1983785612","https://openalex.org/W1988081373","https://openalex.org/W1989958893","https://openalex.org/W2002037657","https://openalex.org/W2002356328","https://openalex.org/W2002658171","https://openalex.org/W2022258069","https://openalex.org/W2027066184","https://openalex.org/W2033246953","https://openalex.org/W2033712349","https://openalex.org/W2044528429","https://openalex.org/W2059597821","https://openalex.org/W2061196115","https://openalex.org/W2066382685","https://openalex.org/W2074085626","https://openalex.org/W2074800621","https://openalex.org/W2074975151","https://openalex.org/W2078545138","https://openalex.org/W2078923420","https://openalex.org/W2089028610","https://openalex.org/W2093539924","https://openalex.org/W2100621695","https://openalex.org/W2107768101","https://openalex.org/W2108545390","https://openalex.org/W2109619263","https://openalex.org/W2113873325","https://openalex.org/W2114602143","https://openalex.org/W2116713316","https://openalex.org/W2117687478","https://openalex.org/W2121764727","https://openalex.org/W2127587849","https://openalex.org/W2138304538","https://openalex.org/W2139330091","https://openalex.org/W2142121527","https://openalex.org/W2150641634","https://openalex.org/W2151717564","https://openalex.org/W2154934792","https://openalex.org/W2161129156","https://openalex.org/W2162876485","https://openalex.org/W2170524561","https://openalex.org/W7099405366"],"related_works":["https://openalex.org/W2484791968","https://openalex.org/W3048371187","https://openalex.org/W4224246306","https://openalex.org/W2102358971","https://openalex.org/W4313256005","https://openalex.org/W2530572028","https://openalex.org/W2160786371","https://openalex.org/W1997189763","https://openalex.org/W3010361390","https://openalex.org/W2913244545"],"abstract_inverted_index":{"In":[0,34,86],"the":[1,17,58,87],"past":[2],"two":[3],"decades,":[4],"significant":[5],"progress":[6],"in":[7,16,27],"neuroimaging":[8,51],"and":[9,74,83,102],"genetic":[10],"techniques":[11],"has":[12],"allowed":[13],"for":[14,57,80],"advances":[15,91],"correct":[18],"definition/classification":[19],"of":[20,31,38,60,66,77,99],"congenital":[21,61],"brain":[22,62],"abnormalities,":[23,69],"which":[24],"have":[25,54],"resulted":[26],"a":[28],"better":[29],"understanding":[30,98],"their":[32],"pathogenesis.":[33],"addition,":[35],"new":[36],"groups":[37],"diseases,":[39],"such":[40],"as":[41],"axonal":[42],"guidance":[43],"disorders":[44,101],"or":[45],"tubulinopathies,":[46],"are":[47,76],"increasingly":[48],"reported.":[49],"Well-defined":[50],"diagnostic":[52],"criteria":[53],"been":[55],"suggested":[56],"majority":[59],"abnormalities.":[63],"Accurate":[64],"diagnoses":[65],"these":[67,90,100],"complex":[68],"including":[70],"distinction":[71],"between":[72],"malformations":[73],"disruptions,":[75],"paramount":[78],"significance":[79],"management,":[81],"prognosis,":[82],"family":[84],"counseling.":[85],"next":[88],"decade,":[89],"will":[92],"hopefully":[93],"be":[94],"translated":[95],"into":[96],"deeper":[97],"more":[103],"specific":[104],"treatments.":[105]},"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2024,"cited_by_count":3},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":2},{"year":2018,"cited_by_count":5},{"year":2017,"cited_by_count":2},{"year":2016,"cited_by_count":2},{"year":2015,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}
