Can the cognitive phenotype in neurofibromatosis type 1 (NF1) be explained by neuroimaging? A review
E Baudou, F Nemmi, M Biotteau, S Maziero… - Frontiers in …, 2020 - frontiersin.org
Neurofibromatosis type 1 (NF1) is one of the most frequent monogenetic disorders. It can be
associated with cognitive dysfunctions in several domains such as executive functioning …
associated with cognitive dysfunctions in several domains such as executive functioning …
Optic pathway glioma and cerebral focal abnormal signal intensity in patients with neurofibromatosis type 1: characteristics, treatment choices and follow-up in 134 …
RE Friedrich, MA Nuding - Anticancer Research, 2016 - ar.iiarjournals.org
Optic pathway glioma (OPG) is a rare neoplasm and a defining feature of neurofibromatosis
type 1 (NF1), a tumor suppressor genetic disorder. OPG predominantly arises during …
type 1 (NF1), a tumor suppressor genetic disorder. OPG predominantly arises during …
Are morphological and structural MRI characteristics related to specific cognitive impairments in neurofibromatosis type 1 (NF1) children?
E Baudou, F Nemmi, M Biotteau, S Maziero… - European Journal of …, 2020 - Elsevier
Introduction NF1 children have cognitive disorders, especially in executive functions,
visuospatial, and language domains, the pathophysiological mechanisms of which are still …
visuospatial, and language domains, the pathophysiological mechanisms of which are still …
GABA deficiency in NF1: A multimodal [11C]-flumazenil and spectroscopy study
Objective: To provide a comprehensive investigation of the γ-aminobutyric acid (GABA)
system in patients with neurofibromatosis type 1 (NF1) that allows understanding the nature …
system in patients with neurofibromatosis type 1 (NF1) that allows understanding the nature …
Non-oncological neuroradiological manifestations in NF1 and their clinical implications
Simple Summary Central nervous system involvement (CNS) is a common finding in
Neurofibromatosis type 1 (NF1). Beside tumor-related manifestations, NF1 is also …
Neurofibromatosis type 1 (NF1). Beside tumor-related manifestations, NF1 is also …
Examining the frontal subcortical brain vulnerability hypothesis in children with neurofibromatosis type 1: are T2-weighted hyperintensities related to executive …
A Roy, S Barbarot, V Charbonnier… - …, 2015 - psycnet.apa.org
Objective: It was hypothesized that neuropsychological impairments in children with
neurofibromatosis type I (NF1) are associated with brain areas of increased T2-weighted …
neurofibromatosis type I (NF1) are associated with brain areas of increased T2-weighted …
Multivariate pattern analysis reveals subtle brain anomalies relevant to the cognitive phenotype in neurofibromatosis type 1
Neurofibromatosis Type 1 (NF1) is a common genetic condition associated with cognitive
dysfunction. However, the pathophysiology of the NF1 cognitive deficits is not well …
dysfunction. However, the pathophysiology of the NF1 cognitive deficits is not well …
Using a semi-automated approach to quantify unidentified bright objects in neurofibromatosis type 1 and linkages to cognitive and academic outcomes
EM Harriott, TQ Nguyen, BA Landman… - Magnetic resonance …, 2023 - Elsevier
Abstract Neurofibromatosis type 1 (NF1) is an autosomal dominant neurocutaneous
syndrome that affects multiple organ systems resulting in widespread symptoms, including …
syndrome that affects multiple organ systems resulting in widespread symptoms, including …
Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings
A D'Amico, C Rosano, L Pannone, V Pinna… - Clinical …, 2021 - Wiley Online Library
Abstract Neurofibromatosis 1 (NF1) is a disorder characterized by variable expressivity
caused by loss‐of‐function variants in NF1, encoding neurofibromin, a protein negatively …
caused by loss‐of‐function variants in NF1, encoding neurofibromin, a protein negatively …
Evaluation of the basal ganglia in neurofibromatosis type 1
F Nicita, C Di Biasi, S Sollaku, S Cecchini… - Child's Nervous …, 2014 - Springer
Purpose Alterations of the brain microstructure and metabolism have been identified in
patients with neurofibromatosis type 1 (NF1). In this study, we analyzed the basal ganglia of …
patients with neurofibromatosis type 1 (NF1). In this study, we analyzed the basal ganglia of …