MEK inhibitors for neurofibromatosis type 1 manifestations: Clinical evidence and consensus

PMK De Blank, AM Gross, S Akshintala… - Neuro …, 2022 - academic.oup.com
The wide variety of clinical manifestations of the genetic syndrome neurofibromatosis type 1
(NF1) are driven by overactivation of the RAS pathway. Mitogen-activated protein kinase …

ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1

C Carton, DG Evans, I Blanco, RE Friedrich… - …, 2023 - thelancet.com
Summary Background Neurofibromatosis type 1 (NF1) is a multisystem genetic disorder,
predisposing development of benign and malignant tumours. Given the oncogenic potential …

Systematic review and meta-analysis: Attention-deficit/hyperactivity disorder symptoms in children with neurofibromatosis Type 1

Y Hou, L Yu, D Liu, E Wilson-Lemoine, X Wu… - Journal of the American …, 2024 - Elsevier
Objective This meta-analysis aimed to robustly estimate differences in attention-
deficit/hyperactivity disorder (ADHD) symptoms between children and adolescents with and …

The management of neurofibromatosis type 1 (NF1) in children and adolescents

N Kerashvili, DH Gutmann - Expert Review of Neurotherapeutics, 2024 - Taylor & Francis
ABSTRACT Introduction Neurofibromatosis type 1 (NF1) is a rare neurogenetic disorder
characterized by multiple organ system involvement and a predisposition to benign and …

Executive functions and quality of life in children with neurofibromatosis type 1

A Roy, JL Roulin, C Gras-Le Guen, ML Corbat… - Orphanet Journal of …, 2021 - Springer
Background To examine the impact of executive function disorders on health-related quality
of life (QoL) in children with neurofibromatosis type 1 (NF1), we conducted a prospective …

Clinical characterization of children and adolescents with NF1 microdeletions

H Kehrer-Sawatzki, L Kluwe, J Salamon, L Well… - Child's Nervous …, 2020 - Springer
Abstract Purpose An estimated 5–11% of patients with neurofibromatosis type 1 (NF1)
harbour NF1 microdeletions encompassing the NF1 gene and its flanking regions. The …

Perceived transition readiness among adolescents and young adults with neurofibromatosis type 1 and plexiform neurofibromas: a cross-sectional descriptive study

A Siegel, R Lockridge, KL Struemph… - Journal of Pediatric …, 2024 - academic.oup.com
Abstract Objectives Neurofibromatosis type 1 (NF1) is a genetic cancer predisposition
syndrome that can impact multiple organ systems and is associated with plexiform …

[HTML][HTML] The translational genetics of ADHD and related phenotypes in model organisms

J Cabana-Domínguez, E Antón-Galindo… - … & biobehavioral reviews, 2023 - Elsevier
Attention-deficit/hyperactivity disorder (ADHD) is a highly prevalent neurodevelopmental
disorder resulting from the interaction between genetic and environmental risk factors. It is …

Brain volumes in genetic syndromes associated with mTOR dysregulation: a systematic review and meta-analysis

JM Payne, KM Haebich, R Mitchell, K Bozaoglu… - Molecular …, 2024 - nature.com
Results Meta-analyses revealed significantly larger whole brain volume, gray and white
matter volumes, and subcortical volumes in NF1 compared to controls. FXS was associated …

Atypical NF1 Microdeletions: Challenges and Opportunities for Genotype/Phenotype Correlations in Patients with Large NF1 Deletions

H Kehrer-Sawatzki, U Wahlländer, DN Cooper… - Genes, 2021 - mdpi.com
Patients with neurofibromatosis type 1 (NF1) and type 1 NF1 deletions often exhibit more
severe clinical manifestations than patients with intragenic NF1 gene mutations, including …