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

Clinical and mutational spectrum of Colombian patients with Pelizaeus Merzbacher Disease.

Colombia medica (Cali, Colombia) - 30 Jun 2018

Velasco Parra Harvy Mauricio, Maradei Anaya Silvia Juliana, Acosta Guio Johanna Carolina, Arteaga Diaz Clara Eugenia, Prieto Rivera Juan Carlos

Abstract excerpt

CASE PRESENTATION: Pelizaeus Merzbacher Disease (PMD) is an X-linked developmental defect of myelination that causes childhood chronic spastic encephalopathy. Its genetic etiology can be either a duplication (or other gene dosage alterations) or a punctual mutation at the PLP1 locus. Clinically, it presents with developmental delay, nystagmus and, spasticity, supported by neuroimaging in which the defect of...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Colombia

Share to Developmental Disabilities

Share to DNA Copy Number Variations

Share to Infant

Share to Myelin Proteolipid Protein

Share to Pelizaeus-Merzbacher Disease

Source

Open in PubMed Open full text

Identifiers

PMID: 30104812
DOI: 10.25100/cm.v49i2.2522
PMCID: PMC6084915

Genes

PLP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical and mutational spectrum of Colombian patients with Pelizaeus Merzbacher Disease.PMID 30104812Read ↗

Pelizaeus-Merzbacher disease in patients with molecularly confirmed diagnosis.Semantic proximity Read ↗

A severe connatal form of Pelizaeus Merzbacher disease in a Czech boy caused by a novel mutation (725C>A, Ala242Glu) at the 'jimpy(msd) codon' in the PLP gene.Semantic proximity Read ↗

The spectrum of PLP1 gene mutations in patients with the classical form of the Pelizaeus-Merzbacher disease.Semantic proximity Read ↗

The molecular and cellular defects underlying Pelizaeus-Merzbacher disease.Semantic proximity Read ↗

Neurogenetics of Pelizaeus-Merzbacher disease.Semantic proximity Read ↗

Pelizaeus-Merzbacher disease as a chromosomal disorder.Semantic proximity Read ↗

Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher-like disease 1, and related hypomyelinating disorders.Semantic proximity Read ↗

PLP1 gene duplication as a cause of the classic form of Pelizaeus-Merzbacher disease - case report.Semantic proximity Read ↗

Pelizaeus-Merzbacher disease, easily misdiagnosed as cerebral palsy: a report of a three-generation family.Semantic proximity Read ↗

[Clinical and genetic analysis of a family with Pelizaeus-Merzbacher disease].Semantic proximity Read ↗

The magnetic resonance imaging spectrum of Pelizaeus-Merzbacher disease: A multicenter study of 19 patients.Semantic proximity Read ↗

Neuropathology and genetics of Pelizaeus-Merzbacher disease.Semantic proximity Read ↗

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