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

Novel congenital myasthenic syndromes associated with defects in quantal release.

Neurology - 25 Apr 2006

Milone M, Fukuda T, Shen X M, Tsujino A, Brengman J, Engel A G

Abstract excerpt

BACKGROUND: Most congenital myasthenic syndromes are caused by defects in postsynaptic or synaptic basal lamina-associated proteins; congenital myasthenic syndromes (CMSs) associated with presynaptic defects are uncommon. Here, the authors describe clinical, electrophysiologic, and morphologic features of two novel and highly disabling CMSs, one determined by presynaptic and the other determined by combined...

Read the complete abstract on PubMed

Topics

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

Share to Acetylcholinesterase
Share to Evoked Potentials
Share to Myasthenic Syndromes, Congenital

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

Share to Nerve Degeneration

Share to Presynaptic Terminals

Share to Protein Conformation

Share to Receptors, Cholinergic

Share to Synaptic Vesicles

Source

Identifiers

PMID: 16525123
DOI: 10.1212/01.wnl.0000205596.19540.2c

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel congenital myasthenic syndromes associated with defects in quantal release.PMID 16525123Read ↗

Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment.Semantic proximity Read ↗

[Congenital diseases of neuromuscular transmission: congenital myasthenia syndromes].Semantic proximity Read ↗

Congenital myasthenic syndromes.Semantic proximity Read ↗

Presynaptic Congenital Myasthenic Syndromes: Understanding Clinical Phenotypes through In vivo Models.Semantic proximity Read ↗

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

Congenital myasthenic syndromes in 2012.Semantic proximity Read ↗

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

Congenital myasthenic syndromes.Semantic proximity Read ↗

The congenital myasthenic syndromes: expanding genetic and phenotypic spectrums and refining treatment strategies.Semantic proximity Read ↗

Congenital myasthenic syndromes: increasingly complex.Semantic proximity Read ↗

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

Congenital myasthenic syndromes.Semantic proximity Read ↗

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