ReviewNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2023
Neurofibromatosis type 1 system-based manifestations and treatments: a review.
Review in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 30 citations in OpenAlex.
- Whole-exome sequencing increases variant detection compared to karyotyping and CMA in an unselected FGR cohort.Scientific reports · 2026Article
- [Pheochromocytoma in Neurofibromatosis Type 1].Problemy endokrinologii · 2026Article
- Dermoscopy-Guided High-Frequency Ultrasound Imaging of Subcentimeter Cutaneous and Subcutaneous Neurofibromas in Patients with Neurofibromatosis Type 1.Journal of clinical medicine · 2026Article
- Neurofibromatosis type 1 with unilateral macrodactyly-like overgrowth: a case report.Case reports in plastic surgery & hand surgery · 2026Article
- Spontaneous arterial rupture complicating neurofibromatosis type 1: a case report of massive lumbogluteal hematoma and literature review.Frontiers in medicine · 2026Article
- Recurrent giant neurofibroma of the posterior neck and upper back with failed primary grafting and salvage reconstruction: a case report.Frontiers in surgery · 2026Article
- Ruptured A3 segment aneurysm in a patient with neurofibromatosis type 1: a case report and literature review.Frontiers in surgery · 2026Article
- Review
- Neurofibromatosis Type 1 and the Search for Effective Tumor Therapies Using High-Throughput Drug Screening.Current oncology (Toronto, Ont.) · 2025Review
- Selumetinib Treatment in a Neurofibromatosis Type 1 Child With Second Hit Mutation on the NF1 Gene.International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience · 2025Article
- Juvenile xanthogranuloma as a potential early manifestation of neurofibromatosis type 1: A case report.Medicine · 2025Article
- Genetics and current research models of Mendelian tumor predisposition syndromes with ocular involvement.Progress in retinal and eye research · 2025Review
- Neurofibromatosis type I (NF1) and bone involvement in a pediatric setting: insights from FGF23 levels.Italian journal of pediatrics · 2025Observational
- Multiparametric whole-body MRI of patients with neurofibromatosis type I: spectrum of imaging findings.Skeletal radiology · 2025Review
- Article
- Healthcare professionals face ethical challenges in managing care for neurodevelopmental disorders: a qualitative study in Lebanon.BMJ open · 2025Article
- Association of pituitary neuroendocrine tumors and neurofibromatosis type 1: assessing causation versus coincidence. Case report.Frontiers in endocrinology · 2025Article
- Case Report: Concurrent neurofibromatosis type 1 with papillary thyroid carcinoma and gastrointestinal stromal tumor.Frontiers in oncology · 2025Article
- Hallux Flexion Deformity Secondary to Fibula Harvesting in a 10-Year-Old Patient With Neurofibromatosis.Cureus · 2024Article
- Efficient analysis of adverse drug events and toxicological mechanisms of newly marketed drugs by integrating pharmacovigilance and network toxicology: selumetinib as an example.Frontiers in pharmacology · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 6 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionNeurofibromatosis type 1 (NF1) is a genetic disorder caused by a mutation in the NF1 gene. This disease presents with various system-based manifestations, including cardiac, musculoskeletal, and neuronal issues, which have been well-studied in previous research and have prompted the development of current and emerging treatments. These treatments, mainly medications targeting specific manifestations of NF1, aim to mitigate the negative impacts of the disease on patients' lives. NF1 is associated with an increased risk of malignancy and a significant decrease in life expectancy. In this paper, we review the current and emerging treatments for NF1 in relation to its system-based manifestations.
methodsWe conducted an extensive literature search using specific keywords through databases such as PubMed, Scopus, and Cochrane. The articles we found were compiled and subjected to strict inclusion and exclusion criteria.
resultsPharmacological advances have led to the development of products that hold promise as future treatments for NF1. Given the diverse manifestations that can affect multiple organ systems in patients with NF1, it is important to consider a variety of treatment options to achieve optimal results. However, one of the major challenges in diagnosing and treating NF1 is that patients present asymptomatically, making it necessary to rely on clinical features for diagnosis.
conclusionIn conclusion, NF1 is a complex disease with varying manifestations and a growing field of pharmacologic treatments. The information presented in this article synthesizes current knowledge and available therapies for NF1.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.