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

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

Sonraí bibleagrafaíochta
Príomhchruthaitheoirí:	Hatton, C, Chen, J, Shelley, C, Croxen, R, Beeson, D, Colquhoun, D
Formáid:	Journal article
Foilsithe / Cruthaithe:	2000

Míreanna comhchosúla

Properties of the human muscle nicotinic receptor, and of the slow-channel myasthenic syndrome mutant epsilonL221F, inferred from maximum likelihood fits.
de réir: Hatton, C, et al.
Foilsithe / Cruthaithe: (2003)

Effects of epsilon L78P, an acetylcholine receptor mutation that causes slow channel congenital myasthenic syndrome.
de réir: Shelley, C, et al.
Foilsithe / Cruthaithe: (2003)

Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes.
de réir: Croxen, R, et al.
Foilsithe / Cruthaithe: (2002)

Recessive inheritance and variable pentrance of slow channel myasthenic syndromes
de réir: Besson, D, et al.
Foilsithe / Cruthaithe: (2002)

Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes (Retracted Article. See vol 72, pg 294, 2009)
de réir: Croxen, R, et al.
Foilsithe / Cruthaithe: (2002)

Splice-site mutations in the achr epsilon subunit gene associated with congenital myasthenic syndrome
de réir: Croxen, R, et al.
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CLINICAL FEATURES OF THE SLOW-CHANNEL CONGENITAL MYASTHENIC SYNDROME
de réir: Lashley, D, et al.
Foilsithe / Cruthaithe: (2009)

Structural abnormalities of the AChR caused by mutations underlying congenital myasthenic syndromes.
de réir: Beeson, D, et al.
Foilsithe / Cruthaithe: (2003)

The fourth transmembrane domain of the muscle nicotinic acetylcholine receptor epsilon subunit is not required for channel function
de réir: Beeson, D, et al.
Foilsithe / Cruthaithe: (2000)

A new mouse model for the slow-channel congenital myasthenic syndrome induced by the AChR εL221F mutation
de réir: Frédéric Chevessier, et al.
Foilsithe / Cruthaithe: (2012-03-01)

Slow channel congenital myasthenic syndrome responsive to a combination of fluoxetine and salbutamol.
de réir: Finlayson, S, et al.
Foilsithe / Cruthaithe: (2013)

Congenital myasthenic syndrome patients due to AChR epsilon subunit mutations
de réir: Bonifati, D, et al.
Foilsithe / Cruthaithe: (2004)

Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndrome.
de réir: Webster, R, et al.
Foilsithe / Cruthaithe: (2004)

Allele-specific RNA interference to target a model of slow-channel congenital myasthenic syndrome
de réir: McClorey, G, et al.
Foilsithe / Cruthaithe: (2008)

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

A mouse model of the slow channel myasthenic syndrome: Neuromuscular physiology and effects of ephedrine treatment.
de réir: Webster, R, et al.
Foilsithe / Cruthaithe: (2013)

End-plate gamma- and epsilon-subunit mRNA levels in AChR deficiency syndrome due to epsilon-subunit null mutations.
de réir: Croxen, R, et al.
Foilsithe / Cruthaithe: (2001)

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

Selective cleavage of AChR cRNAs harbouring mutations underlying the slow channel myasthenic syndrome by hammerhead ribozymes.
de réir: Abdelgany, A, et al.
Foilsithe / Cruthaithe: (2005)

The congenital myasthenic syndromes.
de réir: Palace, J, et al.
Foilsithe / Cruthaithe: (2008)

Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita.
de réir: Brownlow, S, et al.
Foilsithe / Cruthaithe: (2001)

Congenital myasthenic syndromes.
de réir: Beeson, D, et al.
Foilsithe / Cruthaithe: (1997)

Synaptic dysfunction in congenital myasthenic syndromes.
de réir: Beeson, D
Foilsithe / Cruthaithe: (2012)

Congenital myasthenic syndromes: recent advances
de réir: Beeson, D
Foilsithe / Cruthaithe: (2016)

Congenital myasthenic syndromes: an update.
de réir: Finlayson, S, et al.
Foilsithe / Cruthaithe: (2013)

Myasthenia gravis in a woman with congenital AChR deficiency due to epsilon-subunit mutations.
de réir: Croxen, R, et al.
Foilsithe / Cruthaithe: (2002)

Congenital myasthenic syndromes and the formation of the neuromuscular junction
de réir: Beeson, D
Foilsithe / Cruthaithe: (2008)

COLQ-Mutant Congenital Myasthenic Syndromes
de réir: J Gordon Millichap
Foilsithe / Cruthaithe: (2008-03-01)

Arthrogryposis multiplex congenita associated with congenital myasthenic syndrome due to mutations in the acetylcholine receptor delta subunit
de réir: Brownlow, S, et al.
Foilsithe / Cruthaithe: (2000)

Congenital myasthenic syndromes and the neuromuscular junction.
de réir: Cruz, P, et al.
Foilsithe / Cruthaithe: (2014)

Therapeutic strategies for congenital myasthenic syndromes
de réir: Lee, M, et al.
Foilsithe / Cruthaithe: (2018)

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

Congenital myasthenic syndromes: Report of 7 Chile
de réir: Kleinsteuber, K, et al.
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Myasthenic syndromes due to defects in COL13A1 and in the N‐linked glycosylation pathway
de réir: Beeson, D, et al.
Foilsithe / Cruthaithe: (2018)

The neuromuscular junction and wide heterogeneity of congenital myasthenic syndromes
de réir: Rodríguez Cruz, P, et al.
Foilsithe / Cruthaithe: (2018)

A novel congenital myasthenic syndrome due to decreased acetylcholine receptor ion-channel conductance
de réir: Webster, R, et al.
Foilsithe / Cruthaithe: (2012)

A novel congenital myasthenic syndrome due to decreased acetylcholine receptor ion-channel conductance.
de réir: Webster, R, et al.
Foilsithe / Cruthaithe: (2012)

Congenital myasthenic syndrome caused by mutations in DPAGT.
de réir: Klein, A, et al.
Foilsithe / Cruthaithe: (2015)

Novel mutation in the muscle acetylcholine receptor a-subunit underlies a fast channel congenital myasthenic syndrome
de réir: Webster, R, et al.
Foilsithe / Cruthaithe: (2002)

AN UNUSUAL CASE OF CONGENITAL MYASTHENIC SYNDROME: THE MECHANISM FOR TREATMENT RESPONSE
de réir: Spillane, J, et al.
Foilsithe / Cruthaithe: (2012)