Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7
about
Ephedrine for myasthenia gravis, neonatal myasthenia and the congenital myasthenic syndromesEphedrine for myasthenia gravisAlterations of cAMP-dependent signaling in dystrophic skeletal muscleEffects of the ß2-adrenoceptor agonist, albuterol, in a mouse model of anti-MuSK myasthenia gravisA conceptual framework for evaluating impairments in myasthenia gravis.Beneficial effects of albuterol in congenital endplate acetylcholinesterase deficiency and Dok-7 myasthenia.DOK7 congenital myasthenic syndrome.Congenital myasthenic syndromes in 2012.John Newsom-Davis: clinician-scientist and so much more.Ephedrine as add-on therapy for patients with myasthenia gravis: protocol for a series of randomised, placebo-controlled n-of-1 trials.Multiscale Simulations Suggest a Mechanism for the Association of the Dok7 PH Domain with PIP-Containing Membranes.Salbutamol and ephedrine in the treatment of severe AChR deficiency syndromes.Muscle magnetic resonance imaging in congenital myasthenic syndromes.Synaptic dysfunction in congenital myasthenic syndromes.Efficacy of terbutaline in familial limb girdle myasthenia: Case report and review of literature.Inherited disorders of the neuromuscular junction: an update.The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.COLQ-mutant Congenital Myasthenic Syndrome with Microcephaly: A Unique Case with Literature ReviewNeuromuscular junction acetylcholinesterase deficiency responsive to albuterol.Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1.Effect of 3,4-diaminopyridine at the murine neuromuscular junction.Congenital Myasthenic Syndrome due to DOK7 mutations in a family from Chile.Congenital Myasthenic Syndromes or Inherited Disorders of Neuromuscular Transmission: Recent Discoveries and Open Questions.Agrin-LRP4-MuSK signaling as a therapeutic target for myasthenia gravis and other neuromuscular disorders.KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors.Treating pediatric neuromuscular disorders: The future is now.Beta-2 Adrenergic Receptor Agonists Enhance AChR Clustering in C2C12 Myotubes: Implications for Therapy of Myasthenic Disorders.The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes.Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations
P2860
Q24187268-4806ABF1-1973-4E7A-873D-5F0E52AF41B7Q24201819-D6FBBAE6-EFE0-46D3-A495-C20A570B8981Q27003221-26798CF2-B94E-415D-9B4F-54F22F9B8022Q28539518-992A3896-63BF-4790-B16C-FC48196C81D1Q33638581-92C30454-3A89-4735-A6EE-03C9CE452DACQ34219855-51F618C9-634C-485F-AA1B-C2BC46726DADQ34320276-B0F4D452-1D3D-4FCA-8E5E-EB0A255833E2Q34407051-57460772-A05F-4892-899D-B3F65A83128FQ35606729-046AE519-C974-433E-95D2-CA3D1C8245C0Q35884892-FB6C7014-AAED-49C9-BD4B-C5D085E7E3E3Q36085849-A5D216D3-0A78-48BC-9AE4-E2A7631EB2AEQ36155690-4578CBE3-535B-42DD-AD37-89AFCA546FDBQ37169452-C3031D7D-AD86-484E-99A2-D97A8A072131Q38070756-9969BDB9-45ED-43BF-A3FA-47D13EAF1801Q38129863-A8D5909A-5CD5-4B59-A8D4-7B4EBFBC5380Q38259083-EAA1C77F-0D64-4B57-9185-0C07E3C52B92Q39337788-D8171887-8A9E-4078-A964-A98D58B8C405Q39458487-381CC23B-AD3C-4754-BA40-69EC7BCF09A2Q40045250-6ACD0277-646D-4561-A6FC-53B383F32A23Q44189852-D0CBD84F-C6F7-4613-B39D-AC8E0CC8E230Q46441845-85B88492-0431-41BA-B6BA-7857F073366CQ46531755-60B43AE4-396E-4990-AADD-B7D80FAA8096Q47618500-70FB2D17-28A3-4203-8DFA-8B03E09D23B1Q47928036-040CA6DD-4DBB-4273-BE27-37E21974A429Q51557307-8886DF3C-18D1-4E98-8801-90E25C5AE26AQ52756417-A759779B-1C48-4753-951B-C6937A1487D4Q55345433-694A6FC4-DBDD-4A3C-B1C1-F71BE4E1125AQ55661123-4DA3CA8B-90CD-4545-AF44-6DCC8AA50704Q57334284-212EA28E-4EC9-49B5-A915-33A8138F82F3
P2860
Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7
description
2010 nî lūn-bûn
@nan
2010 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7
@ast
Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7
@en
Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7
@nl
type
label
Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7
@ast
Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7
@en
Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7
@nl
prefLabel
Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7
@ast
Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7
@en
Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7
@nl
P2093
P2860
P1433
P1476
Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7
@en
P2093
P2860
P304
P356
10.1212/WNL.0B013E3181DD43BF
P407
P577
2010-05-01T00:00:00Z