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

Exome sequencing identifies targets in the treatment-resistant ophthalmoplegic subphenotype of myasthenia gravis.

Neuromuscular disorders : NMD - 1 Sept 2017

Nel Melissa, Jalali Sefid Dashti Mahjoubeh, Gamieldien Junaid, Heckmann Jeannine M

Abstract excerpt

Treatment-resistant ophthalmoplegia (OP-MG) is not uncommon in individuals with African genetic ancestry and myasthenia gravis (MG). To identify OP-MG susceptibility genes, extended whole exome sequencing was performed using extreme phenotype sampling (11 OP-MG vs 4 control-MG) all with acetylcholine receptor-antibody positive MG. This approach identified 356 variants that were twice as frequent in OP-MG compared...

Read the complete abstract on PubMed

Topics

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

Share to Computational Biology
Share to Computer Simulation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DEAD-box RNA Helicases

Share to Exome Sequencing

Share to Myasthenia Gravis

Share to Ophthalmoplegia

Share to Receptors, Interleukin-6

Share to Serine C-Palmitoyltransferase

Source

Identifiers

PMID: 28673556
DOI: 10.1016/j.nmd.2017.06.009

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Exome sequencing identifies targets in the treatment-resistant ophthalmoplegic subphenotype of myasthenia gravis.PMID 28673556Read ↗

A unique subphenotype of myasthenia gravis.Semantic proximity Read ↗

Using Whole Genome Sequencing in an African Subphenotype of Myasthenia Gravis to Generate a Pathogenetic HypothesisSemantic proximity Read ↗

Gene expression profiling of orbital muscles in treatment-resistant ophthalmoplegic myasthenia gravis.Semantic proximity Read ↗

Mitochondrial proteins contribute to the pathogenesis of myasthenia gravis.Semantic proximity Read ↗

Genome-wide meta-analysis of myasthenia gravis uncovers new loci and provides insights into polygenic prediction.Semantic proximity Read ↗

Towards personalized management of myasthenia gravis phenotypes: From the role of multi-omics to the emerging biomarkers and therapeutic targets.Semantic proximity Read ↗

Association between Cytotoxic T-Lymphocyte-Associated Antigen 4 (CTLA-4) Locus and Early-Onset Anti-acetylcholine Receptor-Positive Myasthenia Gravis in Serbian Patients.Semantic proximity Read ↗

The Epidemiology and Phenotypes of Ocular Manifestations in Childhood and Juvenile Myasthenia Gravis: A ReviewSemantic proximity Read ↗

Screening for Congenital Myasthenic Syndromes in Adults With Seronegative Myasthenia Gravis Using Next-Generation SequencingSemantic proximity Read ↗

Myasthenia gravis genome-wide association study implicates AGRN as a risk locus.Semantic proximity Read ↗

The African-387 C>T TGFB1 variant is functional and associates with the ophthalmoplegic complication in juvenile myasthenia gravis.Semantic proximity Read ↗

A genome-wide association study of myasthenia gravis.Semantic proximity Read ↗

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