The defect in a slow channel myasthenic syndrome mutant, epsilon L221F

The defect in a slow channel myasthenic syndrome mutant, epsilon L221F

Detalhes bibliográficos
Principais autores:	Hatton, C, Chen, J, Shelley, C, Croxen, R, Beeson, D, Colquhoun, D
Formato:	Journal article
Publicado em:	2000

Registros relacionados

Properties of the human muscle nicotinic receptor, and of the slow-channel myasthenic syndrome mutant epsilonL221F, inferred from maximum likelihood fits.
por: Hatton, C, et al.
Publicado em: (2003)

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

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

Recessive inheritance and variable pentrance of slow channel myasthenic syndromes
por: Besson, D, et al.
Publicado em: (2002)

Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes (Retracted Article. See vol 72, pg 294, 2009)
por: Croxen, R, et al.
Publicado em: (2002)

Splice-site mutations in the achr epsilon subunit gene associated with congenital myasthenic syndrome
por: Croxen, R, et al.
Publicado em: (2000)

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

Structural abnormalities of the AChR caused by mutations underlying congenital myasthenic syndromes.
por: Beeson, D, et al.
Publicado em: (2003)

The fourth transmembrane domain of the muscle nicotinic acetylcholine receptor epsilon subunit is not required for channel function
por: Beeson, D, et al.
Publicado em: (2000)

A new mouse model for the slow-channel congenital myasthenic syndrome induced by the AChR εL221F mutation
por: Frédéric Chevessier, et al.
Publicado em: (2012-03-01)

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

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

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

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

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

A mouse model of the slow channel myasthenic syndrome: Neuromuscular physiology and effects of ephedrine treatment.
por: Webster, R, et al.
Publicado em: (2013)

End-plate gamma- and epsilon-subunit mRNA levels in AChR deficiency syndrome due to epsilon-subunit null mutations.
por: Croxen, R, et al.
Publicado em: (2001)

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

Selective cleavage of AChR cRNAs harbouring mutations underlying the slow channel myasthenic syndrome by hammerhead ribozymes.
por: Abdelgany, A, et al.
Publicado em: (2005)

The congenital myasthenic syndromes.
por: Palace, J, et al.
Publicado em: (2008)

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

Congenital myasthenic syndromes.
por: Beeson, D, et al.
Publicado em: (1997)

Synaptic dysfunction in congenital myasthenic syndromes.
por: Beeson, D
Publicado em: (2012)

Congenital myasthenic syndromes: recent advances
por: Beeson, D
Publicado em: (2016)

Congenital myasthenic syndromes: an update.
por: Finlayson, S, et al.
Publicado em: (2013)

Myasthenia gravis in a woman with congenital AChR deficiency due to epsilon-subunit mutations.
por: Croxen, R, et al.
Publicado em: (2002)

Congenital myasthenic syndromes and the formation of the neuromuscular junction
por: Beeson, D
Publicado em: (2008)

COLQ-Mutant Congenital Myasthenic Syndromes
por: J Gordon Millichap
Publicado em: (2008-03-01)

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

Congenital myasthenic syndromes and the neuromuscular junction.
por: Cruz, P, et al.
Publicado em: (2014)

Therapeutic strategies for congenital myasthenic syndromes
por: Lee, M, et al.
Publicado em: (2018)

Mutations in congenital myasthenic syndromes reveal an epsilon subunit C-terminal cysteine, C470, crucial for maturation and surface expression of adult AChR.
por: Ealing, J, et al.
Publicado em: (2002)

Congenital myasthenic syndromes: Report of 7 Chile
por: Kleinsteuber, K, et al.
Publicado em: (2003)

Myasthenic syndromes due to defects in COL13A1 and in the N‐linked glycosylation pathway
por: Beeson, D, et al.
Publicado em: (2018)

The neuromuscular junction and wide heterogeneity of congenital myasthenic syndromes
por: Rodríguez Cruz, P, et al.
Publicado em: (2018)

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

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

Congenital myasthenic syndrome caused by mutations in DPAGT.
por: Klein, A, et al.
Publicado em: (2015)

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

AN UNUSUAL CASE OF CONGENITAL MYASTHENIC SYNDROME: THE MECHANISM FOR TREATMENT RESPONSE
por: Spillane, J, et al.
Publicado em: (2012)