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Ephedrine for myasthenia gravis, neonatal myasthenia and the congenital myasthenic syndromesEphedrine for myasthenia gravis3,4-Diaminopyridine for myasthenia gravisAlterations of cAMP-dependent signaling in dystrophic skeletal muscleCongenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patientsAn ocular motility conundrum.Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7Two cases of congenital myasthenic syndrome with vocal cord paralysisBulbar dysfunction: An early presentation of congenital myasthenic syndrome in three infants.Salbutamol and ephedrine in the treatment of severe AChR deficiency syndromes.Regulation of nicotinic acetylcholine receptor turnover by MuRF1 connects muscle activity to endo/lysosomal and atrophy pathways.Feeding and Swallowing Disorders in Pediatric Neuromuscular Diseases: An Overview.Diagnostic use of autoantibodies in myasthenia gravis.Antibody effector mechanisms in myasthenia gravis-pathogenesis at the neuromuscular junction.Paediatric electromyography in the modern world: a personal view.Electrophysiological study in neuromuscular junction disorders.Inherited disorders of the neuromuscular junction: an update.Clinical features of the myasthenic syndrome arising from mutations in GMPPB.The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.Congenital myasthenic syndromes: Natural history and long-term prognosis.Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome.Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1.The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes.
P2860
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P2860
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 15 August 2008
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
The congenital myasthenic syndromes.
@en
The congenital myasthenic syndromes.
@nl
type
label
The congenital myasthenic syndromes.
@en
The congenital myasthenic syndromes.
@nl
prefLabel
The congenital myasthenic syndromes.
@en
The congenital myasthenic syndromes.
@nl
P1476
The congenital myasthenic syndromes.
@en
P2093
David Beeson
Jackie Palace
P356
10.1016/J.JNEUROIM.2008.05.030
P478
P577
2008-08-15T00:00:00Z