Discover Community Create You

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

Article

The genetic and phenotypic spectra of adult genetic leukoencephalopathies in a cohort of 309 patients.

Brain : a journal of neurology - 1 Jun 2023

Wu Chujun, Wang Mengwen, Wang Xingao, Li Wei, Li Shaowu, Chen Bin, Niu Songtao, Tai Hongfei, Pan Hua, Zhang Zaiqiang

Abstract excerpt

Genetic leukoencephalopathies (gLEs) are a highly heterogeneous group of rare genetic disorders. The spectrum of gLEs varies among patients of different ages. Distinct from the relatively more abundant studies of gLEs in children, only a few studies that explore the spectrum of adult gLEs have been published, and it should be noted that the majority of these excluded certain gLEs. Thus, to date, no large study...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Leukoencephalopathies
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fragile X Mental Retardation Protein

Share to High-Temperature Requirement A Serine Peptidase 1

Share to Mutation

Share to Myelin Sheath

Share to Receptor, Notch3

Share to Sequence Analysis, DNA

Source

Open in PubMed Open full text

Identifiers

PMID: 36380532
DOI: 10.1093/brain/awac426
PMCID: PMC10232248

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The genetic and phenotypic spectra of adult genetic leukoencephalopathies in a cohort of 309 patients.PMID 36380532Read ↗

Genetic spectrum and clinical features of adult leukoencephalopathies in a Chinese cohort.Semantic proximity Read ↗

Genetic testing of leukodystrophies unraveling extensive heterogeneity in a large cohort and report of five common diseases and 38 novel variants.Semantic proximity Read ↗

Genetic Testing of Leukodystrophies Unraveling Extensive Heterogeneity in a Large Cohort: The Role of Five Common Diseases and Report of 38 Novel VariantsSemantic proximity Read ↗

Clinical and genetic characterization of leukoencephalopathies in adults.Semantic proximity Read ↗

A comprehensive study of mutation and phenotypic heterogeneity of childhood mitochondrial leukodystrophies.Semantic proximity Read ↗

Update on Leukodystrophies: A Historical Perspective and Adapted DefinitionSemantic proximity Read ↗

The landscape of 605 genetically confirmed distinct rare diseases in a single center in Mexico (2005-2025).Semantic proximity Read ↗

Hypomyelinating leukodystrophies in adults: Clinical and genetic features.Semantic proximity Read ↗

Characterization of Leukodystrophy Penetrance Using Large-Scale Integration of Genomic Population Screening and Electronic Health RecordsSemantic proximity Read ↗

New clinical characteristics and novel pathogenic variants of patients with hereditary leukodystrophies.Semantic proximity Read ↗

ACER3-Realted Leukoencephalopathy: Expanding The Clinical and Imaging Findings Spectrum Due to Novel VariantsSemantic proximity Read ↗

ACER3-related leukoencephalopathy: expanding the clinical and imaging findings spectrum due to novel variants.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.