Comprehensive neurological evaluation of a cohort of patients with neurofibromatosis type 1 from a single institution.

doi:10.1016/j.ejpn.2023.02.006

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Back to search

Article

Comprehensive neurological evaluation of a cohort of patients with neurofibromatosis type 1 from a single institution.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Mar 2023

Angelova-Toshkina Daniela, Decker Josua A, Traunwieser Thomas, Holzapfel Johannes, Bette Stefanie, Huber Simon, Schimmel Mareike, Vollert Kurt, Bison Brigitte, Kröncke Thomas, Bramswig Nuria C, Wieczorek Dagmar, Gnekow Astrid K, Frühwald Michael C, Kuhlen Michaela

Abstract excerpt

Neurofibromatosis type 1 (NF1) is a phenotypically heterogenous multisystem cancer predisposition syndrome manifesting in childhood and adolescents. Central nervous system (CNS) manifestations include structural, neurodevelopmental, and neoplastic disease. We aimed to (1) characterize the spectrum of CNS manifestations of NF1 in a paediatric population, (2) explore radiological features in the CNS by image...

Topics

Humans
Female
Neurofibromatosis 1
Retrospective Studies
Optic Nerve Glioma
Phenotype
Genotype

Source

Open in PubMed

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 36905830
DOI: 10.1016/j.ejpn.2023.02.006

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.