Keywords: سندرم میاستنیک مادرزادی; Congenital myasthenic syndrome; Endplate acetylcholinesterase deficiency; Electromyography; Repetitive compound muscle action potential; COLQ;
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Keywords: سندرم میاستنیک مادرزادی; Congenital myasthenic syndrome; Neuromuscular junction; Safety factor; Acetylcholine receptor; Acetylcholinesterase;
Keywords: سندرم میاستنیک مادرزادی; Congenital myasthenic syndrome; Brief resolved unexplained event; Heart rate; Sleep; Poly(somno)graphy; Ventilatory support; CMS; congenital myasthenic syndromes; ENMG; electroneuromyography; RNS; repetitive nerve stimulation; StimSFEMG; stimulation singl
Keywords: سندرم میاستنیک مادرزادی; Congenital myopathy; Congenital muscular dystrophy; Congenital myasthenic syndrome; Genetics; Next generation sequencing;
Keywords: سندرم میاستنیک مادرزادی; Congenital myasthenic syndrome; Genetic mutations; CHRNE; RAPSN; GFPT1; COLQ; DOK7; GMPPB; Slow-channel syndrome;
Keywords: سندرم میاستنیک مادرزادی; AChE; Acetylcholinesterase; AChR; Acetylcholine Receptor; ALG13,14; UDP-N-acetylglucosaminyltransferase subunit 13, 14; AMDHD2; Amidohydrolase domain containing 2; ATP; Adenosine triphosphate; Aβ; Amyloid β; CDG; Congenital disorders of glycosylation; C
Keywords: سندرم میاستنیک مادرزادی; Biotinidase; Biotinidase deficiency; Contiguous gene deletion; Mutation; Enzyme deficiency; Congenital myasthenic syndrome
Keywords: سندرم میاستنیک مادرزادی; Neuromuscular junction; Myasthenia gravis; Lambert-Eaton myasthenic syndrome; Botulism; Organophosphate poisoning; Congenital myasthenic syndrome;
Keywords: سندرم میاستنیک مادرزادی; congenital myasthenic syndrome; rapsyn; next-generation sequencing; pyridostigmine;
Keywords: سندرم میاستنیک مادرزادی; Channelopathies; Ion channel; Nondystrophic myotonia; Periodic paralysis; Congenital myasthenic syndrome;
A new severe mutation in the SLC5A7 gene related to congenital myasthenic syndrome type 20
Keywords: سندرم میاستنیک مادرزادی; Congenital myasthenic syndrome; SLC5A7 gene; MIM#617143; Presynaptic choline transporter; Electrophysiology; Repetitive stimulation;
DOK7 myasthenic syndrome with subacute adult onset during pregnancy and partial response to fluoxetine
Keywords: سندرم میاستنیک مادرزادی; Congenital myasthenic syndrome; DOK7; Fluoxetine; Pregnancy;
Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome
Keywords: سندرم میاستنیک مادرزادی; Limb girdle muscular dystrophy; Congenital myasthenic syndrome; GMPPB; Mutation hotspot; Muscle MRI;
Limb-girdle congenital myasthenic syndrome in a Chinese family with novel mutations in MUSK gene and literature review
Keywords: سندرم میاستنیک مادرزادی; Congenital myasthenic syndrome; Neuromuscular transmission; MUSK gene; Limb-girdle CMS; Missense mutations;
Phenotypic heterogeneity in two large Roma families with a congenital myasthenic syndrome due to CHRNE 1267delG mutation. A long-term follow-up
Keywords: سندرم میاستنیک مادرزادی; CHRNE; Acetylcholine receptor; Congenital myasthenic syndrome; Congenital myasthenia; Roma gypsies; Neuromuscular junction; Pyridostigmine; 3,4-Diaminopyridine; Founder mutation;
Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations
Keywords: سندرم میاستنیک مادرزادی; Rapsyn; Congenital myasthenic syndrome; Congenital myasthenia; Neuromuscular junction; Pyridostigmine; 3,4-diaminopyridine;
Case reportCongenital myasthenic syndrome due to mutation in CHRNE gene with clinical worsening and thymic hyperplasia attributed to association with autoimmune-myasthenia gravis
Keywords: سندرم میاستنیک مادرزادی; Myasthenia gravis; Congenital myasthenic syndrome; Neuromuscular junction disorder;
A CHRNE frameshift mutation causes congenital myasthenic syndrome in young Jack Russell Terriers
Keywords: سندرم میاستنیک مادرزادی; Canine; Muscle nicotinic acetylcholine receptor; Neuromuscular junction; Animal model; Myasthenia gravis; AChR; acetylcholine receptor; CHAT; gene encoding choline acetyltransferase; CHRNA1; gene encoding the alpha subunit of AChR; CHRNB1; gene encoding t
Fast-channel congenital myasthenic syndrome with a novel acetylcholine receptor mutation at the α-ε subunit interface
Keywords: سندرم میاستنیک مادرزادی; Acetylcholine receptor; Congenital myasthenic syndrome; Fast channel; Mutation;
Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK
Keywords: سندرم میاستنیک مادرزادی; AChR; acetylcholine receptor; AChE; acetylcholine esterase; CK; creatine kinase; CMAP; compound muscle action potential; CMS; congenital myasthenic syndrome; Congenital myasthenic syndromes; Neuromuscular transmission; MUSK-related CMS; Salbutamol treatme
Case reportClinical features in a large Iranian family with a limb-girdle congenital myasthenic syndrome due to a mutation in DPAGT1
Keywords: سندرم میاستنیک مادرزادی; Congenital myasthenic syndrome; DPAGT1; Mutation; Clinical features;
Mesdc2 plays a key role in cell-surface expression of Lrp4 and postsynaptic specialization in myotubes
Keywords: سندرم میاستنیک مادرزادی; ACh; acetylcholine; AChR; ACh receptor; Btx; bungarotoxin; CMS; congenital myasthenic syndrome; Dok-7; downstream of tyrosine kinases 7; DPAGT1; dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1; GFPT1; glutamine-fruct
Quinine sulfate as a therapeutic option in a patient with slow channel congenital myasthenic syndrome
Keywords: سندرم میاستنیک مادرزادی; Congenital myasthenic syndrome; Slow channel congenital myasthenic syndrome; Nicotinic acetylcholine receptor; Quinine sulfate;
A novel mutation in the TPR6 domain of the RAPSN gene associated with congenital myasthenic syndrome
Keywords: سندرم میاستنیک مادرزادی; Congenital myasthenic syndrome; Rapsyn; Mutation;
Clinical features in a series of fast channel congenital myasthenia syndrome
Keywords: سندرم میاستنیک مادرزادی; Congenital myasthenic syndrome; Fast channel; Clinical features; Respiratory crises;
Long-term follow-up of patients with congenital myasthenic syndrome caused by COLQ mutations
Keywords: سندرم میاستنیک مادرزادی; Congenital myasthenic syndrome; COLQ; Acetylcholinesterase; Relapse; Mutations;
ReviewCurrent status of the congenital myasthenic syndromes
Keywords: سندرم میاستنیک مادرزادی; Congenital myasthenic syndrome; Neuromuscular junction; EMG; Choline acetyltransferase; ColQ β2-laminin; Acetylcholine receptor; Rapsyn; Agrin; MuSK; Dok-7; GFPT1; Plectin; Fetal akinesia syndrome;
Molecular mechanisms underlying maturation and maintenance of the vertebrate neuromuscular junction
Keywords: سندرم میاستنیک مادرزادی; synapse; acetylcholine receptor; neuromuscular disorder; congenital myasthenic syndrome; agrin; MuSK
Congenital stridor with feeding difficulty as a presenting symptom of Dok7 congenital myasthenic syndrome
Keywords: سندرم میاستنیک مادرزادی; Congenital myasthenic syndrome; Stridor; Feeding difficulty; Vocal cord palsy; DOK7
DOK7 mutations presenting as a proximal myopathy in French Canadians
Keywords: سندرم میاستنیک مادرزادی; Congenital myasthenic syndrome; DOK7; Myopathy; Neuromuscular transmission;
Ephedrine therapy in eight patients with congenital myasthenic syndrome due to DOK7 mutations
Keywords: سندرم میاستنیک مادرزادی; Congenital myasthenic syndrome; Synaptopathy; Downstream-of-kinase-7; DOK7; Ephedrine therapy;
Therapeutic Strategies in Congenital Myasthenic Syndromes
Keywords: سندرم میاستنیک مادرزادی; Congenital myasthenic syndrome; therapy; acetylcholinesterase inhibitor; 3;4-diaminopyridine (3;4-DAP); quinidine sulfate; fluoxetine; acetazolamide; ephedrine;
Congenital Myasthenic Syndromes in childhood: Diagnostic and management challenges
Keywords: سندرم میاستنیک مادرزادی; Congenital Myasthenic Syndrome; Management; Diagnosis
Novel COLQ mutation 950delC in synaptic congenital myasthenic syndrome and symptomatic heterozygous relatives
Keywords: سندرم میاستنیک مادرزادی; Congenital myasthenic syndrome; COLQ; Heterozygosity
A synonymous CHRNE mutation responsible for an aberrant splicing leading to congenital myasthenic syndrome
Keywords: سندرم میاستنیک مادرزادی; Congenital myasthenic syndrome; Genetics; Splicing; Acetylcholine receptor; CHRNE;
Facing the genetic heterogeneity in neuromuscular disorders: Linkage analysis as an economic diagnostic approach towards the molecular diagnosis
Keywords: سندرم میاستنیک مادرزادی; Muscular dystrophy; Congenital myopathy; Congenital myasthenic syndrome; Ion channel disorder; Microsatellite marker; Linkage analysis
Clinical variability of CMS-EA (congenital myasthenic syndrome with episodic apnea) due to identical CHAT mutations in two infants
Keywords: سندرم میاستنیک مادرزادی; Congenital myasthenic syndrome; Episodic apnea; CHAT mutation; Choline acetyltransferase (ChAT);
Identification and expression analysis of alternative transcripts of the mouse GA-binding protein (Gabp) subunits α and β1
Keywords: سندرم میاستنیک مادرزادی; AChR; nicotinic acetylcholine receptor; AP1; adaptor primer 1; βGal; β-galactosidase; C2C12; mouse myoblast; CMS; congenital myasthenic syndrome; COX; cytochrome c oxidase; CpG; cytidine/guanosine; E; embryonic day; EST; expressed sequence tag; E4TF-1;