Literature DB >> 10899804

Behavioral phenotype of neurofibromatosis, type 1.

A E Kayl1, B D Moore.   

Abstract

Neurofibromatosis, type 1 (NF1) is a very common inherited disorder that was first described in the late 19th century. NF1 is associated with a myriad of behavioral manifestations in addition to its frequent and often severe medical and physical complications. Learning disability, cognitive impairment, emotional and psychosocial difficulties have been reported so frequently in neurofibromatosis that these are often considered hallmarks. This report briefly introduces the medical and physical characteristics of NF1. We then detail the behavioral manifestations of NF1 with additional discussion of possible etiologies for the high incidence of these behavioral difficulties. MRDD Research Reviews 2000;6:117-124. Copyright 2000 Wiley-Liss, Inc.

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Year:  2000        PMID: 10899804     DOI: 10.1002/1098-2779(2000)6:2<117::AID-MRDD5>3.0.CO;2-X

Source DB:  PubMed          Journal:  Ment Retard Dev Disabil Res Rev        ISSN: 1080-4013


  24 in total

Review 1.  Molecular and cellular mechanisms of learning disabilities: a focus on NF1.

Authors:  C Shilyansky; Y S Lee; A J Silva
Journal:  Annu Rev Neurosci       Date:  2010       Impact factor: 12.449

Review 2.  Understanding intellectual disability through RASopathies.

Authors:  Alvaro San Martín; Mario Rafael Pagani
Journal:  J Physiol Paris       Date:  2014-05-21

Review 3.  Alternative splicing of the neurofibromatosis type I pre-mRNA.

Authors:  Victoria A Barron; Hua Lou
Journal:  Biosci Rep       Date:  2012-04-01       Impact factor: 3.840

4.  Discriminating between neurofibromatosis-1 and typically developing children by means of multimodal MRI and multivariate analyses.

Authors:  Federico Nemmi; Fabien Cignetti; Christine Assaiante; Stephanie Maziero; Fredrique Audic; Patrice Péran; Yves Chaix
Journal:  Hum Brain Mapp       Date:  2019-05-11       Impact factor: 5.038

5.  Neurocognitive outcomes in neurofibromatosis clinical trials: Recommendations for the domain of attention.

Authors:  Karin S Walsh; Jennifer Janusz; Pamela L Wolters; Staci Martin; Bonita P Klein-Tasman; Mary Anne Toledo-Tamula; Heather L Thompson; Jonathan M Payne; Kristina K Hardy; Peter de Blank; Claire Semerjian; Laura Schaffner Gray; Sondra E Solomon; Nicole Ullrich
Journal:  Neurology       Date:  2016-08-16       Impact factor: 9.910

6.  Multivariate pattern analysis reveals subtle brain anomalies relevant to the cognitive phenotype in neurofibromatosis type 1.

Authors:  João V Duarte; Maria J Ribeiro; Inês R Violante; Gil Cunha; Eduardo Silva; Miguel Castelo-Branco
Journal:  Hum Brain Mapp       Date:  2012-09-11       Impact factor: 5.038

7.  Resting state functional MRI reveals abnormal network connectivity in neurofibromatosis 1.

Authors:  Steffie N Tomson; Matthew J Schreiner; Manjari Narayan; Tena Rosser; Nicole Enrique; Alcino J Silva; Genevera I Allen; Susan Y Bookheimer; Carrie E Bearden
Journal:  Hum Brain Mapp       Date:  2015-08-25       Impact factor: 5.038

8.  Visual evoked potentials in children with neurofibromatosis type 1.

Authors:  Alessandro Iannaccone; Richard A McCluney; Vickie R Brewer; Peter H Spiegel; June S Taylor; Natalie C Kerr; Enikö K Pivnick
Journal:  Doc Ophthalmol       Date:  2002-07       Impact factor: 2.379

9.  Cognitive and psychosocial phenotype of young children with neurofibromatosis-1.

Authors:  Bonita P Klein-Tasman; Kelly M Janke; Wen Luo; Christy L Casnar; Scott J Hunter; James Tonsgard; Pamela Trapane; Faye van der Fluit; Lorri A Kais
Journal:  J Int Neuropsychol Soc       Date:  2013-11-15       Impact factor: 2.892

10.  Abnormal brain activation in neurofibromatosis type 1: a link between visual processing and the default mode network.

Authors:  Inês R Violante; Maria J Ribeiro; Gil Cunha; Inês Bernardino; João V Duarte; Fabiana Ramos; Jorge Saraiva; Eduardo Silva; Miguel Castelo-Branco
Journal:  PLoS One       Date:  2012-06-18       Impact factor: 3.240

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