Gyrification, cortical and subcortical morphometry in neurofibromatosis type 1: an uneven profile of developmental abnormalities

Detalhes bibliográficos
Autor(a) principal: Violante, Inês R.
Data de Publicação: 2013
Outros Autores: Ribeiro, Maria J., Silva, Eduardo D., Castelo-Branco, Miguel
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
DOI: 10.1186/1866-1955-5-3
Texto Completo: http://hdl.handle.net/10316/80833
https://doi.org/10.1186/1866-1955-5-3
Resumo: Neurofibromatosis type 1 (NF1) is a monogenic disorder associated with cognitive impairments. In order to understand how mutations in the NF1 gene impact brain structure it is essential to characterize in detail the brain structural abnormalities in patients with NF1. Previous studies have reported contradictory findings and have focused only on volumetric measurements. Here, we investigated the volumes of subcortical structures and the composite dimensions of the cortex through analysis of cortical volume, cortical thickness, cortical surface area and gyrification.
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spelling Gyrification, cortical and subcortical morphometry in neurofibromatosis type 1: an uneven profile of developmental abnormalitiesNeurofibromatosis type 1 (NF1) is a monogenic disorder associated with cognitive impairments. In order to understand how mutations in the NF1 gene impact brain structure it is essential to characterize in detail the brain structural abnormalities in patients with NF1. Previous studies have reported contradictory findings and have focused only on volumetric measurements. Here, we investigated the volumes of subcortical structures and the composite dimensions of the cortex through analysis of cortical volume, cortical thickness, cortical surface area and gyrification.2013-02-13info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articlehttp://hdl.handle.net/10316/80833http://hdl.handle.net/10316/80833https://doi.org/10.1186/1866-1955-5-3eng23406822Violante, Inês R.Ribeiro, Maria J.Silva, Eduardo D.Castelo-Branco, Miguelinfo:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2021-10-27T09:23:37Zoai:estudogeral.uc.pt:10316/80833Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T21:03:06.800124Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Gyrification, cortical and subcortical morphometry in neurofibromatosis type 1: an uneven profile of developmental abnormalities
title Gyrification, cortical and subcortical morphometry in neurofibromatosis type 1: an uneven profile of developmental abnormalities
spellingShingle Gyrification, cortical and subcortical morphometry in neurofibromatosis type 1: an uneven profile of developmental abnormalities
Gyrification, cortical and subcortical morphometry in neurofibromatosis type 1: an uneven profile of developmental abnormalities
Violante, Inês R.
Violante, Inês R.
title_short Gyrification, cortical and subcortical morphometry in neurofibromatosis type 1: an uneven profile of developmental abnormalities
title_full Gyrification, cortical and subcortical morphometry in neurofibromatosis type 1: an uneven profile of developmental abnormalities
title_fullStr Gyrification, cortical and subcortical morphometry in neurofibromatosis type 1: an uneven profile of developmental abnormalities
Gyrification, cortical and subcortical morphometry in neurofibromatosis type 1: an uneven profile of developmental abnormalities
title_full_unstemmed Gyrification, cortical and subcortical morphometry in neurofibromatosis type 1: an uneven profile of developmental abnormalities
Gyrification, cortical and subcortical morphometry in neurofibromatosis type 1: an uneven profile of developmental abnormalities
title_sort Gyrification, cortical and subcortical morphometry in neurofibromatosis type 1: an uneven profile of developmental abnormalities
author Violante, Inês R.
author_facet Violante, Inês R.
Violante, Inês R.
Ribeiro, Maria J.
Silva, Eduardo D.
Castelo-Branco, Miguel
Ribeiro, Maria J.
Silva, Eduardo D.
Castelo-Branco, Miguel
author_role author
author2 Ribeiro, Maria J.
Silva, Eduardo D.
Castelo-Branco, Miguel
author2_role author
author
author
dc.contributor.author.fl_str_mv Violante, Inês R.
Ribeiro, Maria J.
Silva, Eduardo D.
Castelo-Branco, Miguel
description Neurofibromatosis type 1 (NF1) is a monogenic disorder associated with cognitive impairments. In order to understand how mutations in the NF1 gene impact brain structure it is essential to characterize in detail the brain structural abnormalities in patients with NF1. Previous studies have reported contradictory findings and have focused only on volumetric measurements. Here, we investigated the volumes of subcortical structures and the composite dimensions of the cortex through analysis of cortical volume, cortical thickness, cortical surface area and gyrification.
publishDate 2013
dc.date.none.fl_str_mv 2013-02-13
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
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status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10316/80833
http://hdl.handle.net/10316/80833
https://doi.org/10.1186/1866-1955-5-3
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https://doi.org/10.1186/1866-1955-5-3
dc.language.iso.fl_str_mv eng
language eng
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dc.identifier.doi.none.fl_str_mv 10.1186/1866-1955-5-3

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