Italian recommendations for diagnosis and management of congenital myasthenic syndromes
Sign Up to like & getrecommendations! Published in 2018 at "Neurological Sciences"
DOI: 10.1007/s10072-018-3682-x
Abstract: Congenital myasthenic syndromes (CMS) are genetic disorders due to mutations in genes encoding proteins involved in the neuromuscular junction structure and function. CMS usually present in young children, but perinatal and adult onset has been… read more here.
Keywords: italian recommendations; diagnosis management; congenital myasthenic; cms ... See more keywords
Congenital myasthenic syndromes in the Thai population: Clinical findings and novel mutations
Sign Up to like & getrecommendations! Published in 2020 at "Neuromuscular Disorders"
DOI: 10.1016/j.nmd.2020.08.362
Abstract: Congenital myasthenic syndromes (CMS) comprise a heterogeneous group of genetic disorders of the neuromuscular junction. Next generation sequencing has been increasingly used for molecular diagnosis in CMS patients. This study aimed to identify the disease-causing… read more here.
Keywords: syndromes thai; diagnosis cms; thai population; congenital myasthenic ... See more keywords
The congenital myasthenic syndromes: expanding genetic and phenotypic spectrums and refining treatment strategies
Sign Up to like & getrecommendations! Published in 2019 at "Current Opinion in Neurology"
DOI: 10.1097/wco.0000000000000736
Abstract: Purpose of review Congenital myasthenic syndromes (CMS) are a group of heterogeneous inherited disorders caused by mutations in genes encoding proteins whose function is essential for the integrity of neuromuscular transmission. This review updates the… read more here.
Keywords: phenotypic; treatment strategies; treatment; myasthenic syndromes ... See more keywords
The unfolding landscape of the congenital myasthenic syndromes
Sign Up to like & getrecommendations! Published in 2018 at "Annals of the New York Academy of Sciences"
DOI: 10.1111/nyas.13539
Abstract: Congenital myasthenic syndromes (CMS) are heterogeneous disorders in which the safety margin of neuromuscular transmission is impaired by one or more specific mechanisms. Since the advent of next‐generation sequencing methods, the discovery of novel CMS… read more here.
Keywords: congenital myasthenic; landscape congenital; myasthenic syndromes; unfolding landscape ... See more keywords
Intragenic DOK7 deletion detected by whole-genome sequencing in congenital myasthenic syndromes
Sign Up to like & getrecommendations! Published in 2017 at "Neurology: Genetics"
DOI: 10.1212/nxg.0000000000000152
Abstract: Objective: To identify the genetic cause in a patient affected by ptosis and exercise-induced muscle weakness and diagnosed with congenital myasthenic syndromes (CMS) using whole-genome sequencing (WGS). Methods: Candidate gene screening and WGS analysis were… read more here.
Keywords: intragenic dok7; whole genome; congenital myasthenic; deletion ... See more keywords
Pharmacological Treatments for Congenital Myasthenic Syndromes Caused by COLQ Mutations.
Sign Up to like & getrecommendations! Published in 2023 at "Current neuropharmacology"
DOI: 10.2174/1570159x21666230126145652
Abstract: BACKGROUND Congenital myasthenic syndromes (CMS) refer to a series of inherited disorders caused by defects in various proteins. Mutation in the collagen-like tail subunit of asymmetric acetylcholinesterase (COLQ) is the second-most common cause of CMS.… read more here.
Keywords: caused colq; pharmacological treatments; congenital myasthenic; colq mutations ... See more keywords
Presynaptic Congenital Myasthenic Syndromes: Understanding Clinical Phenotypes through In vivo Models.
Sign Up to like & getrecommendations! Published in 2023 at "Journal of neuromuscular diseases"
DOI: 10.3233/jnd-221646
Abstract: Presynaptic congenital myasthenic syndromes (CMS) are a group of genetic disorders affecting the presynaptic side of the neuromuscular junctions (NMJ). They can result from a dysfunction in acetylcholine (ACh) synthesis or recycling, in its packaging… read more here.
Keywords: vivo models; understanding clinical; congenital myasthenic; presynaptic congenital ... See more keywords
Autoregulation of Acetylcholine Release and Micro-Pharmacodynamic Mechanisms at Neuromuscular Junction: Selective Acetylcholinesterase Inhibitors for Therapy of Myasthenic Syndromes
Sign Up to like & getrecommendations! Published in 2018 at "Frontiers in Pharmacology"
DOI: 10.3389/fphar.2018.00766
Abstract: Neuromuscular junctions (NMJs) are directly involved into such indispensable to life processes as respiration and locomotion. However, motor nerve forms only one synaptic contact at each muscle fiber. This unique configuration requires specific properties and… read more here.
Keywords: pharmacodynamic mechanisms; safety factor; myasthenic syndromes; micro pharmacodynamic ... See more keywords
Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes—A Comprehensive Review
Sign Up to like & getrecommendations! Published in 2023 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms24043730
Abstract: Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders characterized by impaired neuromuscular signal transmission due to germline pathogenic variants in genes expressed at the neuromuscular junction (NMJ). A total of 35 genes have… read more here.
Keywords: clinical pathologic; pathologic features; review; congenital myasthenic ... See more keywords