Splice-site mutations in the achr epsilon subunit gene associated with congenital myasthenic syndrome

Splice-site mutations in the achr epsilon subunit gene associated with congenital myasthenic syndrome

Bibliografski detalji
Glavni autori:	Croxen, R, Vincent, A, Newsom-Davis, J, Beeson, D
Format:	Journal article
Izdano:	2000

Slični predmeti

Congenital myasthenic syndrome patients due to AChR epsilon subunit mutations
od: Bonifati, D, i dr.
Izdano: (2004)

Myasthenia gravis in a woman with congenital AChR deficiency due to epsilon-subunit mutations.
od: Croxen, R, i dr.
Izdano: (2002)

Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndrome.
od: Webster, R, i dr.
Izdano: (2004)

Structural abnormalities of the AChR caused by mutations underlying congenital myasthenic syndromes.
od: Beeson, D, i dr.
Izdano: (2003)

End-plate gamma- and epsilon-subunit mRNA levels in AChR deficiency syndrome due to epsilon-subunit null mutations.
od: Croxen, R, i dr.
Izdano: (2001)

Mutations in congenital myasthenic syndromes reveal an epsilon subunit C-terminal cysteine, C470, crucial for maturation and surface expression of adult AChR.
od: Ealing, J, i dr.
Izdano: (2002)

Arthrogryposis multiplex congenita associated with congenital myasthenic syndrome due to mutations in the acetylcholine receptor delta subunit
od: Brownlow, S, i dr.
Izdano: (2000)

Congenital Myasthenic Syndrome and AChR Mutation
od: J Gordon Millichap
Izdano: (2000-09-01)

Preferential expression of AChR epsilon-subunit in thymomas from patients with myasthenia gravis.
od: Maclennan, C, i dr.
Izdano: (2008)

Novel mutation in the muscle acetylcholine receptor a-subunit underlies a fast channel congenital myasthenic syndrome
od: Webster, R, i dr.
Izdano: (2002)

AChR deficiency due to epsilon-subunit mutations: two common mutations in the Netherlands.
od: Faber, C, i dr.
Izdano: (2009)

Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita.
od: Brownlow, S, i dr.
Izdano: (2001)

Congenital Myasthenic Syndromes: End-Plate AChR Lack
od: J Gordon Millichap
Izdano: (1998-02-01)

Chronic stridor as an early presentation of congenital myasthenic syndrome due to RAPSN mutation
od: Mewasingh, L, i dr.
Izdano: (2006)

Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes.
od: Croxen, R, i dr.
Izdano: (2002)

The defect in a slow channel myasthenic syndrome mutant, epsilon L221F
od: Hatton, C, i dr.
Izdano: (2000)

Effects of epsilon L78P, an acetylcholine receptor mutation that causes slow channel congenital myasthenic syndrome.
od: Shelley, C, i dr.
Izdano: (2003)

Congenital myasthenic syndromes.
od: Beeson, D, i dr.
Izdano: (1997)

Mutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChR.
od: Zoltowska, K, i dr.
Izdano: (2013)

Mutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChR
od: Zoltowska, K, i dr.
Izdano: (2013)

A nationwide service for the diagnosis and treatment of congenital myasthenic syndromes
od: Burke, G, i dr.
Izdano: (2006)

Congenital myasthenic syndromes and the formation of the neuromuscular junction.
od: Beeson, D, i dr.
Izdano: (2008)

Congenital myasthenic syndromes and the formation of the neuromuscular junction
od: Beeson, D, i dr.
Izdano: (2008)

The genetic diagnosis of congenital myasthenic syndromes (CMS)
od: Man, S, i dr.
Izdano: (2005)

Selective cleavage of AChR cRNAs harbouring mutations underlying the slow channel myasthenic syndrome by hammerhead ribozymes.
od: Abdelgany, A, i dr.
Izdano: (2005)

The congenital myasthenic syndromes.
od: Palace, J, i dr.
Izdano: (2008)

AChR β-Subunit mRNAs Are Stabilized by HuR in a Mouse Model of Congenital Myasthenic Syndrome With Acetylcholinesterase Deficiency
od: Jennifer Karmouch, i dr.
Izdano: (2020-12-01)

Case Report: A Novel AChR Epsilon Variant Causing a Clinically Discordant Salbutamol Responsive Congenital Myasthenic Syndrome in Two Egyptian Siblings
od: Marta Gómez-García de la Banda, i dr.
Izdano: (2022-06-01)

Congenital myasthenic syndrome caused by mutations in DPAGT.
od: Klein, A, i dr.
Izdano: (2015)

Clinical and experimental observations in patients with congenital myasthenic syndromes.
od: Vincent, A, i dr.
Izdano: (1993)

Clinical and experimental observations in patients with congenital myasthenic syndromes.
od: Vincent, A, i dr.
Izdano: (1993)

A Missense Mutation in Epsilon-subunit of Acetylcholine Receptor Causing Autosomal Dominant Slow-channel Congenital Myasthenic Syndrome in a Chinese Family
od: Jia-Ze Tan, i dr.
Izdano: (2016-01-01)

The fourth transmembrane domain of the muscle nicotinic acetylcholine receptor epsilon subunit is not required for channel function
od: Beeson, D, i dr.
Izdano: (2000)

Congenital myasthenic syndromes: an update.
od: Finlayson, S, i dr.
Izdano: (2013)

Fast-channel congenital myasthenic syndrome with a novel acetylcholine receptor mutation at the α-ε subunit interface
od: Webster, R, i dr.
Izdano: (2014)

Fast-channel congenital myasthenic syndrome with a novel acetylcholine receptor mutation at the α-ε subunit interface.
od: Webster, R, i dr.
Izdano: (2014)

Synaptic dysfunction in congenital myasthenic syndromes.
od: Beeson, D
Izdano: (2012)

Congenital myasthenic syndromes: recent advances
od: Beeson, D
Izdano: (2016)

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

Mutations in dok-7 underlie a congenital myasthenic syndrome with a (sic)Limb girdle broken vertical bar pattern of muscle weakness.
od: Beeson, D, i dr.
Izdano: (2006)