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

EML1‐associated brain overgrowth syndrome with ribbon‐like heterotopia

11 Nov 2019

Abstract excerpt

EML1 encodes the protein Echinoderm microtubule-associated protein-like 1 or EMAP-1 that binds to the microtubule complex. Mutations in this gene resulting in complex brain malformations have only recently been published with limited clinical descriptions. We provide further clinical and imaging details on three previously published families, and describe two novel unrelated individuals with a homozygous partial...

Read the complete abstract on PubMed

Topics

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

Share to Congenital Diaphragmatic Hernia Studies
Share to Fetal and Pediatric Neurological Disorders
Share to Renal and related cancers

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 31710781
DOI: 10.1002/ajmg.c.31751

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

EML1‐associated brain overgrowth syndrome with ribbon‐like heterotopiaPMID 31710781Read ↗

A novel missense variant in the EML1 gene associated with bilateral ribbon-like subcortical heterotopia leads to ciliary defects.Semantic proximity Read ↗

The neuroanatomy of Eml1 knockout mice, a model of subcortical heterotopiaSemantic proximity Read ↗

Human cerebral organoids reveal progenitor pathology in EML1-linked cortical malformation.Semantic proximity Read ↗

The microtubule-binding protein EML3 is required for mammalian embryonic growth and cerebral cortical development; <i>Eml3</i> null mice are a model of cobblestone brain malformationSemantic proximity Read ↗

Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities.Semantic proximity Read ↗

Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and human.Semantic proximity Read ↗

Organelle distribution and protein translation defects in radial glia cells with mutations in Eml1Semantic proximity Read ↗

Macrocephaly-capillary malformation: Analysis of 13 patients and review of the diagnostic criteria.Semantic proximity Read ↗

Neuronal migration disorders: clinical, neuroradiologic and genetics aspectsSemantic proximity Read ↗

Novel truncating and missense variants extending the spectrum of EMC1-related phenotypes, causing autism spectrum disorder, severe global development delay and visual impairment.Semantic proximity Read ↗

A clinical and genotype-phenotype analysis of MACF1 variants.Semantic proximity Read ↗

Mutations in the Heterotopia Gene Eml1/EML1 Severely Disrupt the Formation of Primary CiliaSemantic proximity Read ↗

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