Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Neurofibromatosis 1.

Rosalie E Ferner1

  • 1Department of Neurology, Guy's and St Thomas' Hospitals, London, UK. rosalie.ferner@kcl.ac.uk

European Journal of Human Genetics : EJHG
|September 8, 2006
PubMed
Summary
This summary is machine-generated.

Neurofibromatosis 1 (NF1) causes tumors, but research advances understanding of its development. New imaging and potential targeted therapies offer hope for managing NF1 complications.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Development and Initial Validation of the Quality of life Evaluation in <i>NF2</i>-related Schwannomatosis Trials (QUEST) Assessment.

medRxiv : the preprint server for health sciences·2026
Same author

Platform trial design for neurofibromatosis type 1, NF2-related schwannomatosis and non-NF2-related schwannomatosis: A potential model for rare diseases.

Neuro-oncology practice·2024
Same author

Association of sociodemographic and clinical factors with the quality of life of Brazilian individuals with Neurofibromatosis type 1: a cross-sectional study.

Anais brasileiros de dermatologia·2024
Same author

Cross-cultural adaptation and psychometric properties of the Brazilian Portuguese version of the Impact of Neurofibromatosis type 1 on Quality of Life (INF1-QoL) questionnaire.

The British journal of dermatology·2023
Same author

ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1.

EClinicalMedicine·2023
Same author

Neurovascular complications in adults with Neurofibromatosis type 1: A national referral center experience.

American journal of medical genetics. Part A·2022

Area of Science:

  • Oncology
  • Genetics
  • Medical Imaging

Background:

  • Neurofibromatosis 1 (NF1) is a genetic disorder predisposing individuals to benign and malignant tumors.
  • Tumor development in NF1 can be disfiguring and challenging to manage.
  • Recent molecular biology and mouse model advancements have improved understanding of NF1 pathogenesis.

Purpose of the Study:

  • To review current understanding of Neurofibromatosis 1 pathogenesis.
  • To highlight advancements in diagnostic techniques for NF1 complications.
  • To discuss the potential for targeted therapies in managing NF1.

Main Methods:

  • Literature review of molecular biology research in NF1.
  • Analysis of studies utilizing advanced imaging techniques like positron emission tomography.

Related Experiment Videos

  • Review of preclinical and clinical research on targeted therapies for NF1.

    • Main Results:

    • Molecular biology and mouse models have significantly enhanced the understanding of NF1 disease development.
    • Positron emission tomography is effective in diagnosing complex issues such as malignant peripheral nerve sheath tumors.
    • Targeted therapeutic strategies for NF1 complications are nearing clinical application.

    Conclusions:

    • Advances in understanding NF1 pathogenesis are paving the way for improved management strategies.
    • Sophisticated imaging plays a crucial role in diagnosing challenging NF1-associated tumors.
    • The development of targeted therapies holds significant promise for future NF1 treatment.