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.

عرض إصدارات أخرى (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...

وصف كامل

التفاصيل البيبلوغرافية
المؤلفون الرئيسيون:	Webster, R, Maxwell, S, Spearman, H, Tai, K, Beckstein, O, Sansom, M, Beeson, D
التنسيق:	Journal article
اللغة:	English
منشور في:	2012

مواد مشابهة

A novel congenital myasthenic syndrome due to decreased acetylcholine receptor ion-channel conductance
حسب: Webster, R, وآخرون
منشور في: (2012)

Novel mutation in the muscle acetylcholine receptor a-subunit underlies a fast channel congenital myasthenic syndrome
حسب: Webster, R, وآخرون
منشور في: (2002)

Fast-channel congenital myasthenic syndrome with a novel acetylcholine receptor mutation at the α-ε subunit interface
حسب: Webster, R, وآخرون
منشور في: (2014)

Fast-channel congenital myasthenic syndrome with a novel acetylcholine receptor mutation at the α-ε subunit interface.
حسب: Webster, R, وآخرون
منشور في: (2014)

A hydrophobic gate in an ion channel: the closed state of the nicotinic acetylcholine receptor.
حسب: Beckstein, O, وآخرون
منشور في: (2006)

Arthrogryposis multiplex congenita associated with congenital myasthenic syndrome due to mutations in the acetylcholine receptor delta subunit
حسب: Brownlow, S, وآخرون
منشور في: (2000)

Effects of epsilon L78P, an acetylcholine receptor mutation that causes slow channel congenital myasthenic syndrome.
حسب: Shelley, C, وآخرون
منشور في: (2003)

Congenital myasthenic syndromes and the formation of the neuromuscular junction.
حسب: Beeson, D, وآخرون
منشور في: (2008)

Congenital myasthenic syndromes and the formation of the neuromuscular junction
حسب: Beeson, D, وآخرون
منشور في: (2008)

CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn.
حسب: Müller, J, وآخرون
منشور في: (2006)

Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndrome.
حسب: Webster, R, وآخرون
منشور في: (2004)

Congenital myasthenic syndrome patients due to AChR epsilon subunit mutations
حسب: Bonifati, D, وآخرون
منشور في: (2004)

Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita.
حسب: Brownlow, S, وآخرون
منشور في: (2001)

Impaired neurotransmission in a mouse model of the slow channel congenital myasthenic syndrome is improved by the sympathomimetic drug ephedrine
حسب: Webster, R, وآخرون
منشور في: (2011)

The congenital myasthenic syndromes.
حسب: Palace, J, وآخرون
منشور في: (2008)

CLINICAL FEATURES OF THE SLOW-CHANNEL CONGENITAL MYASTHENIC SYNDROME
حسب: Lashley, D, وآخرون
منشور في: (2009)

Congenital myasthenic syndromes.
حسب: Beeson, D, وآخرون
منشور في: (1997)

Slow channel congenital myasthenic syndrome responsive to a combination of fluoxetine and salbutamol.
حسب: Finlayson, S, وآخرون
منشور في: (2013)

Congenital myasthenic syndromes: an update.
حسب: Finlayson, S, وآخرون
منشور في: (2013)

Synaptic dysfunction in congenital myasthenic syndromes.
حسب: Beeson, D
منشور في: (2012)

Congenital myasthenic syndromes: recent advances
حسب: Beeson, D
منشور في: (2016)

The alpha7 nicotinic acetylcholine receptor: molecular modelling, electrostatics, and energetics.
حسب: Amiri, S, وآخرون
منشور في: (2005)

The nicotinic acetylcholine receptor: from molecular model to single-channel conductance.
حسب: Adcock, C, وآخرون
منشور في: (2000)

Distinct phenotypes of congenital acetylcholine receptor deficiency.
حسب: Burke, G, وآخرون
منشور في: (2004)

Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7.
حسب: Lashley, D, وآخرون
منشور في: (2010)

Not ions alone: barriers to ion permeation in nanopores and channels.
حسب: Beckstein, O, وآخرون
منشور في: (2004)

Congenital myasthenic syndromes and the formation of the neuromuscular junction
حسب: Beeson, D
منشور في: (2008)

Congenital myasthenic syndromes and the neuromuscular junction.
حسب: Cruz, P, وآخرون
منشور في: (2014)

Therapeutic strategies for congenital myasthenic syndromes
حسب: Lee, M, وآخرون
منشور في: (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
حسب: Chang, T, وآخرون
منشور في: (2016)

Congenital myasthenic syndromes due to mutations in ALG2 and ALG14
حسب: Cossins, J, وآخرون
منشور في: (2013)

Chronic stridor as an early presentation of congenital myasthenic syndrome due to RAPSN mutation
حسب: Mewasingh, L, وآخرون
منشور في: (2006)

A Missense Mutation in Epsilon-subunit of Acetylcholine Receptor Causing Autosomal Dominant Slow-channel Congenital Myasthenic Syndrome in a Chinese Family
حسب: Jia-Ze Tan, وآخرون
منشور في: (2016-01-01)

Congenital myasthenic syndromes due to mutations in ALG2 and ALG14
حسب: Cossins, J, وآخرون
منشور في: (2013)

Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1
حسب: Finlayson, S, وآخرون
منشور في: (2013)

Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1.
حسب: Finlayson, S, وآخرون
منشور في: (2013)

Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes.
حسب: Croxen, R, وآخرون
منشور في: (2002)

Allele-specific RNA interference to target a model of slow-channel congenital myasthenic syndrome
حسب: McClorey, G, وآخرون
منشور في: (2008)

Congenital myasthenic syndrome due to homozygous CHRNE mutations: report of patients in Arabia.
حسب: Salih, M, وآخرون
منشور في: (2011)

Muscle acetylcholine receptor conversion into chloride conductance at positive potentials by a single mutation
حسب: Cetin, H, وآخرون
منشور في: (2019)