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.

Hiển thị phiên bản (1) khác

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...

Mô tả đầy đủ

Chi tiết về thư mục
Những tác giả chính:	Webster, R, Maxwell, S, Spearman, H, Tai, K, Beckstein, O, Sansom, M, Beeson, D
Định dạng:	Journal article
Ngôn ngữ:	English
Được phát hành:	2012

Những quyển sách tương tự

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

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

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

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

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

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

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

Congenital myasthenic syndromes and the formation of the neuromuscular junction.
Bằng: Beeson, D, et al.
Được phát hành: (2008)

Congenital myasthenic syndromes and the formation of the neuromuscular junction
Bằng: Beeson, D, et al.
Được phát hành: (2008)

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

Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndrome.
Bằng: Webster, R, et al.
Được phát hành: (2004)

Congenital myasthenic syndrome patients due to AChR epsilon subunit mutations
Bằng: Bonifati, D, et al.
Được phát hành: (2004)

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

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

The congenital myasthenic syndromes.
Bằng: Palace, J, et al.
Được phát hành: (2008)

CLINICAL FEATURES OF THE SLOW-CHANNEL CONGENITAL MYASTHENIC SYNDROME
Bằng: Lashley, D, et al.
Được phát hành: (2009)

Congenital myasthenic syndromes.
Bằng: Beeson, D, et al.
Được phát hành: (1997)

Slow channel congenital myasthenic syndrome responsive to a combination of fluoxetine and salbutamol.
Bằng: Finlayson, S, et al.
Được phát hành: (2013)

Congenital myasthenic syndromes: an update.
Bằng: Finlayson, S, et al.
Được phát hành: (2013)

Synaptic dysfunction in congenital myasthenic syndromes.
Bằng: Beeson, D
Được phát hành: (2012)

Congenital myasthenic syndromes: recent advances
Bằng: Beeson, D
Được phát hành: (2016)

The alpha7 nicotinic acetylcholine receptor: molecular modelling, electrostatics, and energetics.
Bằng: Amiri, S, et al.
Được phát hành: (2005)

The nicotinic acetylcholine receptor: from molecular model to single-channel conductance.
Bằng: Adcock, C, et al.
Được phát hành: (2000)

Distinct phenotypes of congenital acetylcholine receptor deficiency.
Bằng: Burke, G, et al.
Được phát hành: (2004)

Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7.
Bằng: Lashley, D, et al.
Được phát hành: (2010)

Not ions alone: barriers to ion permeation in nanopores and channels.
Bằng: Beckstein, O, et al.
Được phát hành: (2004)

Congenital myasthenic syndromes and the formation of the neuromuscular junction
Bằng: Beeson, D
Được phát hành: (2008)

Congenital myasthenic syndromes and the neuromuscular junction.
Bằng: Cruz, P, et al.
Được phát hành: (2014)

Therapeutic strategies for congenital myasthenic syndromes
Bằng: Lee, M, et al.
Được phát hành: (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
Bằng: Chang, T, et al.
Được phát hành: (2016)

Congenital myasthenic syndromes due to mutations in ALG2 and ALG14
Bằng: Cossins, J, et al.
Được phát hành: (2013)

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

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

Congenital myasthenic syndromes due to mutations in ALG2 and ALG14
Bằng: Cossins, J, et al.
Được phát hành: (2013)

Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1
Bằng: Finlayson, S, et al.
Được phát hành: (2013)

Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1.
Bằng: Finlayson, S, et al.
Được phát hành: (2013)

Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes.
Bằng: Croxen, R, et al.
Được phát hành: (2002)

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

Congenital myasthenic syndrome due to homozygous CHRNE mutations: report of patients in Arabia.
Bằng: Salih, M, et al.
Được phát hành: (2011)

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