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

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

Номзүйн дэлгэрэнгүй
Үндсэн зохиолчид:	Hatton, C, Chen, J, Shelley, C, Croxen, R, Beeson, D, Colquhoun, D
Формат:	Journal article
Хэвлэсэн:	2000

Ижил төстэй зүйлс

Properties of the human muscle nicotinic receptor, and of the slow-channel myasthenic syndrome mutant epsilonL221F, inferred from maximum likelihood fits.
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Хэвлэсэн: (2003)

Effects of epsilon L78P, an acetylcholine receptor mutation that causes slow channel congenital myasthenic syndrome.
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Хэвлэсэн: (2003)

Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes.
-н: Croxen, R, зэрэг
Хэвлэсэн: (2002)

Recessive inheritance and variable pentrance of slow channel myasthenic syndromes
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Хэвлэсэн: (2002)

Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes (Retracted Article. See vol 72, pg 294, 2009)
-н: Croxen, R, зэрэг
Хэвлэсэн: (2002)

Splice-site mutations in the achr epsilon subunit gene associated with congenital myasthenic syndrome
-н: Croxen, R, зэрэг
Хэвлэсэн: (2000)

CLINICAL FEATURES OF THE SLOW-CHANNEL CONGENITAL MYASTHENIC SYNDROME
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Хэвлэсэн: (2009)

Structural abnormalities of the AChR caused by mutations underlying congenital myasthenic syndromes.
-н: Beeson, D, зэрэг
Хэвлэсэн: (2003)

The fourth transmembrane domain of the muscle nicotinic acetylcholine receptor epsilon subunit is not required for channel function
-н: Beeson, D, зэрэг
Хэвлэсэн: (2000)

A new mouse model for the slow-channel congenital myasthenic syndrome induced by the AChR εL221F mutation
-н: Frédéric Chevessier, зэрэг
Хэвлэсэн: (2012-03-01)

Slow channel congenital myasthenic syndrome responsive to a combination of fluoxetine and salbutamol.
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Congenital myasthenic syndrome patients due to AChR epsilon subunit mutations
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Хэвлэсэн: (2004)

Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndrome.
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Хэвлэсэн: (2004)

Allele-specific RNA interference to target a model of slow-channel congenital myasthenic syndrome
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Хэвлэсэн: (2008)

Impaired neurotransmission in a mouse model of the slow channel congenital myasthenic syndrome is improved by the sympathomimetic drug ephedrine
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Хэвлэсэн: (2011)

A mouse model of the slow channel myasthenic syndrome: Neuromuscular physiology and effects of ephedrine treatment.
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Хэвлэсэн: (2013)

End-plate gamma- and epsilon-subunit mRNA levels in AChR deficiency syndrome due to epsilon-subunit null mutations.
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Хэвлэсэн: (2001)

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

Selective cleavage of AChR cRNAs harbouring mutations underlying the slow channel myasthenic syndrome by hammerhead ribozymes.
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Хэвлэсэн: (2005)

The congenital myasthenic syndromes.
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Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita.
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Хэвлэсэн: (2001)

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Congenital myasthenic syndromes: recent advances
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Congenital myasthenic syndromes: an update.
-н: Finlayson, S, зэрэг
Хэвлэсэн: (2013)

Myasthenia gravis in a woman with congenital AChR deficiency due to epsilon-subunit mutations.
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Хэвлэсэн: (2002)

Congenital myasthenic syndromes and the formation of the neuromuscular junction
-н: Beeson, D
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COLQ-Mutant Congenital Myasthenic Syndromes
-н: J Gordon Millichap
Хэвлэсэн: (2008-03-01)

Arthrogryposis multiplex congenita associated with congenital myasthenic syndrome due to mutations in the acetylcholine receptor delta subunit
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Congenital myasthenic syndromes and the neuromuscular junction.
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Therapeutic strategies for congenital myasthenic syndromes
-н: Lee, M, зэрэг
Хэвлэсэн: (2018)

Mutations in congenital myasthenic syndromes reveal an epsilon subunit C-terminal cysteine, C470, crucial for maturation and surface expression of adult AChR.
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Congenital myasthenic syndromes: Report of 7 Chile
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Myasthenic syndromes due to defects in COL13A1 and in the N‐linked glycosylation pathway
-н: Beeson, D, зэрэг
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The neuromuscular junction and wide heterogeneity of congenital myasthenic syndromes
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A novel congenital myasthenic syndrome due to decreased acetylcholine receptor ion-channel conductance
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A novel congenital myasthenic syndrome due to decreased acetylcholine receptor ion-channel conductance.
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Congenital myasthenic syndrome caused by mutations in DPAGT.
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Novel mutation in the muscle acetylcholine receptor a-subunit underlies a fast channel congenital myasthenic syndrome
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AN UNUSUAL CASE OF CONGENITAL MYASTHENIC SYNDROME: THE MECHANISM FOR TREATMENT RESPONSE
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