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

Further observations in congenital myasthenic syndromes.

Annals of the New York Academy of Sciences - 1 Jan 2008

Engel Andrew G, Shen Xin-Ming, Selcen Duygu, Sine Steven M

Abstract excerpt

During the past five years many patients suffering from congenital myasthenic syndromes (CMS) have been identified worldwide and novel causative genes and mutations have been discovered. The disease genes now include those encoding each subunit of the acetylcholine receptor (AChR), the ColQ part of acetylcholinesterase (AChE), choline acetyltransferase, Na(v)1.4, MuSK, and Dok-7. Moreover, emerging...

Read the complete abstract on PubMed

Topics

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

Share to Acetylcholinesterase
Share to Kinetics
Share to Muscle Proteins

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

Share to Mutation

Share to Myasthenic Syndromes, Congenital

Share to Protein Subunits

Source

Open in PubMed Open full text

Identifiers

PMID: 18567859
DOI: 10.1196/annals.1405.039
PMCID: PMC3478107

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

Further observations in congenital myasthenic syndromes.PMID 18567859Read ↗

Congenital myasthenic syndromes in Turkey: Clinical clues and prognosis with long term follow-up.Semantic proximity Read ↗

Current understanding of congenital myasthenic syndromes.Semantic proximity Read ↗

Genetic basis and phenotypic features of congenital myasthenic syndromes.Semantic proximity Read ↗

Congenital myasthenic syndromes in 2012.Semantic proximity Read ↗

[Congenital myasthenic syndromes: phenotypic expression and pathophysiological characterisation].Semantic proximity Read ↗

Current status of the congenital myasthenic syndromes.Semantic proximity Read ↗

Congenital myasthenic syndromes: A diverse array of molecular targets.Semantic proximity Read ↗

Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review.Semantic proximity Read ↗

Congenital myasthenic syndromes: spotlight on genetic defects of neuromuscular transmission.Semantic proximity Read ↗

Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort.Semantic proximity Read ↗

Congenital myasthenic syndromes: recent advances.Semantic proximity Read ↗

Genetic Landscape of Congenital Myasthenic Syndromes From Turkey: Novel Mutations and Clinical Insights.Semantic proximity Read ↗

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