Keywords: سندرم های مایاستن مادرزادی; Congenital myasthenic syndromes; Turkey; Genetic; Myasthenia;
مقالات ISI سندرم های مایاستن مادرزادی (ترجمه نشده)
مقالات زیر هنوز به فارسی ترجمه نشده اند.
در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
Keywords: سندرم های مایاستن مادرزادی; CMS; congenital myasthenic syndromes; ECM; extracellular matrix; NMJ; neuromuscular junction; AChE; acetylcholinesterase; AAV; adeno-associated virus; DMD; Duchenne muscular dystrophy; DAPC; dystrophin-associated protein complex; Protein-anchoring therapy
Keywords: سندرم های مایاستن 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 های مایاستن مادرزادی; Congenital myasthenic syndromes; Acetylcholine receptor; Slow channel syndrome; Fast channel syndrome; Endplate acetylcholine receptor deficiency;
Fast and slow-twitching muscles are differentially affected by reduced cholinergic transmission in mice deficient for VAChT: A mouse model for congenital myasthenia
Keywords: سندرم های مایاستن مادرزادی; Congenital myasthenic syndromes; Acetylcholine; Vesicular acetylcholine transporter skeletal muscle; Cholinergic transmission; Motor function;
Antisense oligonucleotide-mediated exon skipping of CHRNA1 pre-mRNA as potential therapy for Congenital Myasthenic Syndromes
Keywords: سندرم های مایاستن مادرزادی; Antisense oligonucleotide; Exon-skipping; Congenital Myasthenic Syndromes; CHRNA1;
Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK
Keywords: سندرم های مایاستن 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
ReviewCongenital myopathies with secondary neuromuscular transmission defects; A case report and review of the literature
Keywords: سندرم های مایاستن مادرزادی; Congenital myasthenic syndromes; Congenital myopathies; Neuromuscular junction; Neuromuscular transmission; Centronuclear myopathies; Fibre type disproportion; Plectinopathy; Tropomyosin; Acetylcholinesterase inhibitors; Acetylcholine receptor; RYR1; TPM2
La myasthénie du côté de l'interniste
Keywords: سندرم های مایاستن مادرزادی; Myasthénie auto-immune; Thymome; Syndrome de Lambert-Eaton; Syndromes myasthéniques congénitaux; Syndromes myasthéniques iatrogènes; Myasthenia gravis; Lambert-Eaton syndrome; Thymoma; Congenital myasthenic syndromes; Iatrogenic myasthenic syndromes;
Clinical and Molecular Analysis of a Novel COLQ Missense Mutation Causing Congenital Myasthenic Syndrome in a Syrian Family
Keywords: سندرم های مایاستن مادرزادی; congenital myasthenic syndromes; COLQ; CMS; end-plate acetylcholinesterase deficiency;
DOK7 limb-girdle myasthenic syndrome mimicking congenital muscular dystrophy
Keywords: سندرم های مایاستن مادرزادی; Congenital muscular dystrophy; Congenital myasthenic syndromes; Limb-girdle myasthenic syndrome;
Modulation of the Ca2+ permeability of human endplate acetylcholine receptor-channel
Keywords: سندرم های مایاستن مادرزادی; ACh; acetylcholine; AChR; ACh receptor; [Ca2+]i; intracellular free Ca2+ concentration; CMS; congenital myasthenic syndromes; IACh; ACh-evoked whole-cell current; Pf; fractional Ca2+ current; QACh; total electrical charge entering the cell through the act
Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies
Keywords: سندرم های مایاستن مادرزادی; Congenital myasthenic syndromes; Centronuclear myopathy; Neuromuscular junction; Acetylcholinesterase inhibitors
Genetic heterogeneity and pathophysiological mechanisms in congenital myasthenic syndromes
Keywords: سندرم های مایاستن مادرزادی; Congenital myasthenic syndromes; Neuromuscular synapse; Genetics; Pathogenesis; Treatment
Long-acting anticholinesterases for myasthenia gravis: synthesis and activities of quaternary phenylcarbamates of neostigmine, pyridostigmine and physostigmine
Keywords: سندرم های مایاستن مادرزادی; Myasthenia gravis; Pyridostigmine; Neostigmine; N-Phenylcarbamate analogues of (−)-physostigmine; (−)-Phenserine; (−)-Cymserine; Congenital myasthenic syndromes
Long-term follow-up in patients with congenital myasthenic syndrome due to CHAT mutations
Keywords: سندرم های مایاستن مادرزادی; Congenital myasthenic syndromes; Choline acetyltransferase; CHAT; Repetitive stimulation test; Acetylcholinesterase; Inhibitors
The congenital myasthenic syndromes
Keywords: سندرم های مایاستن مادرزادی; Congenital myasthenic syndromes; Mini clinical review; Neuromuscular transmission
The Therapy of Congenital Myasthenic Syndromes
Keywords: سندرم های مایاستن مادرزادی; Congenital myasthenic syndromes; acetylcholine receptor; acetylcholinesterase; choline acetyltransferase; rapsyn; Dok-7; MuSK; cholinesterase inhibitors; 3,4-diaminopyridine; quinidine; fluoxetine;
126th International Workshop: Congenital Myasthenic Syndromes, 24-26 September 2004, Naarden, The Netherlands
Keywords: سندرم های مایاستن مادرزادی; Slow-channel syndrome; Fast-channel syndrome; Congenital Myasthenic Syndromes;