Results 11 to 20 of about 2,996 (188)
Genetic Landscape of Congenital Myasthenic Syndromes From Turkey: Novel Mutations and Clinical Insights [PDF]
Journal of Child Neurology, 2017 Congenital myasthenic syndromes are clinically and genetically heterogeneous disorders of neuromuscular transmission. Most are treatable, but certain subtypes worsen with cholinesterase inhibitors.
Uluç Yis +2 more
exaly +3 more sources
COLQ-Mutant Congenital Myasthenic Syndromes
Pediatric Neurology Briefs, 2008 The clinical and molecular genetic findings of 22 COLQ-mutant congenital myasthenic syndromes (CMS) are reported from 14 centers mainly in Europe.
J Gordon Millichap
doaj +2 more sources
Inheritance of Congenital Myasthenic Syndromes
Pediatric Neurology Briefs, 2002 Two novel slow-channel congenital myasthenic syndromes (SCCMS) with mutations in the AChR e subunit are reported from the John Radcliffe Hospital, Oxford, UK.
J Gordon Millichap
doaj +2 more sources
Congenital myasthenic syndromes
Current Opinion in Neurology, 1997 Congenital myasthenic syndromes are a rare group of heterogeneous disorders affecting neuromuscular transmission. Recent identification and in-vitro functional analysis of some of the genetic mutations that cause these disorders correlates with previous electrophysiological, biochemical, pathological and therapeutic studies, and has advanced our ...
Beeson, D, Palace, J, Vincent, A
openaire +4 more sources
Clinical and genetic basis of congenital myasthenic syndromes [PDF]
Arquivos de Neuro-Psiquiatria, 2016 Neuromuscular junction disorders represent a wide group of neurological diseases characterized by weakness, fatigability and variable degrees of appendicular, ocular and bulbar musculature involvement.
Paulo Victor Sgobbi de Souza +5 more
doaj +3 more sources
The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes [PDF]
International Journal of Molecular Sciences, 2018 Congenital myasthenic syndromes (CMS) are genetic disorders characterised by impaired neuromuscular transmission. This review provides an overview on CMS and highlights recent advances in the field, including novel CMS causative genes and improved ...
Pedro M Rodríguez Cruz +2 more
exaly +4 more sources
Congenital Myasthenic Syndromes: End-Plate AChR Lack
Pediatric Neurology Briefs, 1998 Two families with 5 affected members suffering from congenital myasthenic syndrome are reported from University Hospital, Bonn, Germany.
J Gordon Millichap
doaj +2 more sources
DOK7 Mutations in Congenital Myasthenic Syndromes
Pediatric Neurology Briefs, 2007 Clinical and genetic data of 14 patients from 12 congenital myasthenic syndrome (CMS) kinships with mutations in the DOK (‘downstream-of-kinase’) 7 gene are presented by researchers from the Friedrich-Baur-Institute, Munich, Germany, and several other ...
J Gordon Millichap
doaj +2 more sources
Journal of Pediatric Research, 2019 Congenital myasthenic syndromes (CMS) are neuromuscular hereditary diseases with the symptoms of fatigue, weakness, ptosis, ophthalmoparesis and respiratory problems.
Hande Gazeteci Tekin +3 more
doaj +2 more sources
Assessing the Utility of ColabFold and AlphaMissense in Determining Missense Variant Pathogenicity for Congenital Myasthenic Syndromes [PDF]
BiomedicinesBackground/Objectives: Congenital myasthenic syndromes (CMSs) are caused by variants in >30 genes with increasing numbers of variants of unknown significance (VUS) discovered by next-generation sequencing. Establishing VUS pathogenicity requires in vitro
Finlay Ryan-Phillips +5 more
doaj +2 more sources