A novel congenital myasthenic syndrome due to decreased acetylcholine receptor ion-channel conductance.

A novel congenital myasthenic syndrome due to decreased acetylcholine receptor ion-channel conductance.

Show other versions (1)

Muscle acetylcholine receptor ion channels mediate neurotransmission by depolarizing the postsynaptic membrane at the neuromuscular junction. Inherited disorders of neuromuscular transmission, termed congenital myasthenic syndromes, are commonly caused by mutations in genes encoding the five subunit...

書目詳細資料
Main Authors:	Webster, R, Maxwell, S, Spearman, H, Tai, K, Beckstein, O, Sansom, M, Beeson, D
格式:	Journal article
語言:	English
出版:	2012

相似書籍

A novel congenital myasthenic syndrome due to decreased acetylcholine receptor ion-channel conductance
由: Webster, R, et al.
出版: (2012)

Novel mutation in the muscle acetylcholine receptor a-subunit underlies a fast channel congenital myasthenic syndrome
由: Webster, R, et al.
出版: (2002)

Fast-channel congenital myasthenic syndrome with a novel acetylcholine receptor mutation at the α-ε subunit interface
由: Webster, R, et al.
出版: (2014)

Fast-channel congenital myasthenic syndrome with a novel acetylcholine receptor mutation at the α-ε subunit interface.
由: Webster, R, et al.
出版: (2014)

A hydrophobic gate in an ion channel: the closed state of the nicotinic acetylcholine receptor.
由: Beckstein, O, et al.
出版: (2006)

Arthrogryposis multiplex congenita associated with congenital myasthenic syndrome due to mutations in the acetylcholine receptor delta subunit
由: Brownlow, S, et al.
出版: (2000)

Effects of epsilon L78P, an acetylcholine receptor mutation that causes slow channel congenital myasthenic syndrome.
由: Shelley, C, et al.
出版: (2003)

Congenital myasthenic syndromes and the formation of the neuromuscular junction.
由: Beeson, D, et al.
出版: (2008)

Congenital myasthenic syndromes and the formation of the neuromuscular junction
由: Beeson, D, et al.
出版: (2008)

CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn.
由: Müller, J, et al.
出版: (2006)

Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndrome.
由: Webster, R, et al.
出版: (2004)

Congenital myasthenic syndrome patients due to AChR epsilon subunit mutations
由: Bonifati, D, et al.
出版: (2004)

Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita.
由: Brownlow, S, et al.
出版: (2001)

Impaired neurotransmission in a mouse model of the slow channel congenital myasthenic syndrome is improved by the sympathomimetic drug ephedrine
由: Webster, R, et al.
出版: (2011)

The congenital myasthenic syndromes.
由: Palace, J, et al.
出版: (2008)

CLINICAL FEATURES OF THE SLOW-CHANNEL CONGENITAL MYASTHENIC SYNDROME
由: Lashley, D, et al.
出版: (2009)

Congenital myasthenic syndromes.
由: Beeson, D, et al.
出版: (1997)

Slow channel congenital myasthenic syndrome responsive to a combination of fluoxetine and salbutamol.
由: Finlayson, S, et al.
出版: (2013)

Congenital myasthenic syndromes: an update.
由: Finlayson, S, et al.
出版: (2013)

Synaptic dysfunction in congenital myasthenic syndromes.
由: Beeson, D
出版: (2012)

Congenital myasthenic syndromes: recent advances
由: Beeson, D
出版: (2016)

The alpha7 nicotinic acetylcholine receptor: molecular modelling, electrostatics, and energetics.
由: Amiri, S, et al.
出版: (2005)

The nicotinic acetylcholine receptor: from molecular model to single-channel conductance.
由: Adcock, C, et al.
出版: (2000)

Distinct phenotypes of congenital acetylcholine receptor deficiency.
由: Burke, G, et al.
出版: (2004)

Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7.
由: Lashley, D, et al.
出版: (2010)

Not ions alone: barriers to ion permeation in nanopores and channels.
由: Beckstein, O, et al.
出版: (2004)

Congenital myasthenic syndromes and the formation of the neuromuscular junction
由: Beeson, D
出版: (2008)

Congenital myasthenic syndromes and the neuromuscular junction.
由: Cruz, P, et al.
出版: (2014)

Therapeutic strategies for congenital myasthenic syndromes
由: Lee, M, et al.
出版: (2018)

A rare c.183_187dupCTCAC mutation of the acetylcholine receptor CHRNE gene in a South Asian female with congenital myasthenic syndrome: a case report
由: Chang, T, et al.
出版: (2016)

Congenital myasthenic syndromes due to mutations in ALG2 and ALG14
由: Cossins, J, et al.
出版: (2013)

Chronic stridor as an early presentation of congenital myasthenic syndrome due to RAPSN mutation
由: Mewasingh, L, et al.
出版: (2006)

A Missense Mutation in Epsilon-subunit of Acetylcholine Receptor Causing Autosomal Dominant Slow-channel Congenital Myasthenic Syndrome in a Chinese Family
由: Jia-Ze Tan, et al.
出版: (2016-01-01)

Congenital myasthenic syndromes due to mutations in ALG2 and ALG14
由: Cossins, J, et al.
出版: (2013)

Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1
由: Finlayson, S, et al.
出版: (2013)

Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1.
由: Finlayson, S, et al.
出版: (2013)

Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes.
由: Croxen, R, et al.
出版: (2002)

Allele-specific RNA interference to target a model of slow-channel congenital myasthenic syndrome
由: McClorey, G, et al.
出版: (2008)

Congenital myasthenic syndrome due to homozygous CHRNE mutations: report of patients in Arabia.
由: Salih, M, et al.
出版: (2011)

Muscle acetylcholine receptor conversion into chloride conductance at positive potentials by a single mutation
由: Cetin, H, et al.
出版: (2019)