AChR deficiency due to epsilon-subunit mutations: two common mutations in the Netherlands.

AChR deficiency due to epsilon-subunit mutations: two common mutations in the Netherlands.

Congenital myasthenic syndromes are a clinically and genetically heterogeneous group of hereditary disorders affecting neuromuscular transmission. We have identified mutations within the acetylcholine receptor (AChR) epsilon-subunit gene underlying congenital myasthenic syndromes in nine patients (s...

书目详细资料
Main Authors:	Faber, C, Molenaar, P, Vles, J, Bonifati, D, Verschuuren, J, van Doorn, P, Kuks, J, Wokke, J, Beeson, D, De Baets, M
格式:	Journal article
语言:	English
出版:	2009

相似书籍

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

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

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

Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations
由: Cossins, J, et al.
出版: (2006)

Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations.
由: Cossins, J, et al.
出版: (2006)

Correlation between polymorphisms in the AChR gamma and delta subunit promoters and clinical phenotype in AChR deficiency patients
由: Bonifati, D, et al.
出版: (2004)

Preferential expression of AChR epsilon-subunit in thymomas from patients with myasthenia gravis.
由: Maclennan, C, et al.
出版: (2008)

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

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

Effect of sera from AChR-antibody negative myasthenia gravis patients on AChR and MuSK in cell cultures.
由: Farrugia, M, et al.
出版: (2007)

A cysteine residue close to the C-terminus of the E subunit is essential for surface acetylcholine receptor (AChR) expression: Implications for AChR deficiency syndrome
由: Ealing, J, et al.
出版: (2002)

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

Selective silencing of pathogenic a subunit AChR mutant in dominant disorders
由: Abdelgany, A, et al.
出版: (2004)

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

Antibodies to AChRs in seronegative myasthenia gravis
由: Leite, M, et al.
出版: (2006)

AChR phosphorylation and indirect inhibition of AChR function in seronegative MG.
由: Plested, C, et al.
出版: (2002)

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

Selective DNAzyme-mediated cleavage of AChR mutant transcripts by targeting the mutation site or through mismatches in the binding arm.
由: Abdelgany, A, et al.
出版: (2005)

A mouse model of AChR deficiency syndrome with a phenotype reflecting the human condition.
由: Cossins, J, et al.
出版: (2004)

Mutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChR.
由: Zoltowska, K, et al.
出版: (2013)

Mutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChR
由: Zoltowska, K, et al.
出版: (2013)

Characterization of an anti-fetal AChR monoclonal antibody isolated from a myasthenia gravis patient
由: Saxena, A, et al.
出版: (2017)

Serological diagnosis of MG in Tianjin, China, with non-radioactive assays for AChR and MuSK antibodies
由: Yang, L, et al.
出版: (2009)

Treatment-responsive pandysautonomia in an adolescent with ganglionic α3-AChR antibodies.
由: Dale, R, et al.
出版: (2012)

Compromised fidelity of B-cell tolerance checkpoints in AChR and MuSK myasthenia gravis
由: Lee, J, et al.
出版: (2016)

Clinical comparison of anti-MuSK- vs anti-AChR-positive and seronegative myasthenia gravis.
由: Deymeer, F, et al.
出版: (2007)

Mutations in the gene for the E1β subunit: a novel cause of pyruvate dehydrogenase deficiency
由: Brown, R, et al.
出版: (2004)

Lack of association between acetylcholine receptor epsilon polymorphisms and early-onset myasthenia gravis.
由: Bonifati, D, et al.
出版: (2004)

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

Mutations and phenotype in isolated glycerol kinase deficiency.
由: Walker, A, et al.
出版: (1996)

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

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

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

MuSK myasthenia gravis IgG4 disrupts the interaction of LRP4 with MuSK but both IgG4 and IgG1-3 can disperse preformed agrin-independent AChR clusters
由: Koneczny, I, et al.
出版: (2013)

MuSK myasthenia gravis IgG4 disrupts the interaction of LRP4 with MuSK but both IgG4 and IgG1-3 can disperse preformed agrin-independent AChR clusters.
由: Koneczny, I, et al.
出版: (2013)

Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies.
由: Ilkovski, B, et al.
出版: (2015)

The spectrum of mutations causing end-plate acetylcholinesterase deficiency.
由: Ohno, K, et al.
出版: (2000)

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

Gibberellin deficiency and response mutations suppress the stem elongation phenotype of phytochrome-deficient mutants of Arabidopsis.
由: Peng, J, et al.
出版: (1997)

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