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

Genetic and clinical evaluation of congenital myasthenic syndromes with long-term follow-up: experience of a tertiary center in Turkey.

Acta neurologica Belgica - 1 Oct 2023

Yildiz Edibe Pembegul, Kilic Mehmet Akif, Yalcin Emek Uyur, Kurekci Fulya, Avci Ridvan, Hacıfazlıoğlu Nilüfer Eldeş, Ceylaner Serdar, Gezdirici Alper, Çalışkan Mine

Abstract excerpt

INTRODUCTION: Congenital myasthenic syndromes (CMS) are a heterogeneous group of genetic disorders affecting the safety factor which required for neuromuscular transmission. Here we reported our experience in children with CMS. METHODS: We retrospectively collected the data of 18 patients with CMS who were examined in our outpatient clinic between January 2021 and January 2022. The diagnosis of CMS was based on...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Myasthenic Syndromes, Congenital

Share to Receptors, Cholinergic

Share to Turkey

Source

Identifiers

PMID: 36094697
DOI: 10.1007/s13760-022-02090-0

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic and clinical evaluation of congenital myasthenic syndromes with long-term follow-up: experience of a tertiary center in Turkey.PMID 36094697Read ↗

The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide study.Semantic proximity Read ↗

Congenital Myasthenic Syndromes in Turkey: Clinical and Molecular Characterization of 16 Cases With Three Novel Mutations.Semantic proximity Read ↗

Congenital Myasthenic Syndrome: Long-Term Outcomes up to 60 Years, Molecular Characterization, and Eight Novel Variants.Semantic proximity Read ↗

Clinical and genetic spectrum of congenital myasthenic syndromes in Palestine: a retrospective cohort of 35 genetically confirmed patientsSemantic proximity Read ↗

Congenital myasthenic syndrome: Correlation between clinical features and molecular diagnosis.Semantic proximity Read ↗

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

Genotypic and phenotypic spectrum of congenital myasthenic syndrome: Insights from Southeastern Türkiye.Semantic proximity Read ↗

Prevalence and genetic subtypes of congenital myasthenic syndromes in the pediatric population of Slovenia.Semantic proximity Read ↗

Congenital myasthenic syndromesSemantic proximity Read ↗

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

Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort.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.