Myasthenia gravis in a woman with congenital AChR deficiency due to epsilon-subunit mutations.

Myasthenia gravis in a woman with congenital AChR deficiency due to epsilon-subunit mutations.

A reduction in the number of acetylcholine receptors (AChR) on the postsynaptic membrane is characteristic of MG. This may be inherited (AChR deficiency syndrome) or acquired (MG). The authors report two sisters with AChR deficiency caused by heteroallelic mutations in the AChR epsilon-subunit gene....

Bibliográfalaš dieđut
Váldodahkkit:	Croxen, R, Vincent, A, Newsom-Davis, J, Beeson, D
Materiálatiipa:	Journal article
Giella:	English
Almmustuhtton:	2002

Geahča maid

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

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

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

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

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

AChR deficiency due to epsilon-subunit mutations: two common mutations in the Netherlands.
Dahkki: Faber, C, et al.
Almmustuhtton: (2009)

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

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

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

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

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

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
Dahkki: Ealing, J, et al.
Almmustuhtton: (2002)

Nomogram for short-term outcome assessment in AChR subtype generalized myasthenia gravis
Dahkki: Rui Zhao, et al.
Almmustuhtton: (2021-06-01)

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

Slow‐channel myasthenia due to novel mutation in M2 domain of AChR delta subunit
Dahkki: Xin‐Ming Shen, et al.
Almmustuhtton: (2019-10-01)

A Stable Cell Line Expressing Clustered AChR: A Novel Cell-Based Assay for Anti-AChR Antibody Detection in Myasthenia Gravis
Dahkki: Yu Cai, et al.
Almmustuhtton: (2021-07-01)

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

The clinical outcome in AChR-positive generalized myasthenia gravis: A retrospective observational study
Dahkki: Pawan T Ojha, et al.
Almmustuhtton: (2023-01-01)

Differential Cytokine Changes in Patients with Myasthenia Gravis with Antibodies against AChR and MuSK.
Dahkki: Vuslat Yilmaz, et al.
Almmustuhtton: (2015-01-01)

Direct proof of the in vivo pathogenic role of the AChR autoantibodies from myasthenia gravis patients.
Dahkki: Gregory Kordas, et al.
Almmustuhtton: (2014-01-01)

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

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

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

Impact of COVID-19 in AChR Myasthenia Gravis and the Safety of Vaccines: Data from an Italian Cohort
Dahkki: Antonino Lupica, et al.
Almmustuhtton: (2022-04-01)

Correction: Direct Proof of the In Vivo Pathogenic Role of the AChR Autoantibodies from Myasthenia Gravis Patients.
Dahkki: PLOS ONE Staff
Almmustuhtton: (2015-01-01)

Correction: direct proof of the in vivo pathogenic role of the AChR autoantibodies from myasthenia gravis patients.
Dahkki: PLOS ONE Staff
Almmustuhtton: (2015-01-01)

Oral Microbiota Profile in a Group of Anti-AChR Antibody–Positive Myasthenia Gravis Patients
Dahkki: Chao Huang, et al.
Almmustuhtton: (2022-07-01)

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

Autoantibody of NRIP, a novel AChR‐interacting protein, plays a detrimental role in myasthenia gravis
Dahkki: Li‐Kai Tsai, et al.
Almmustuhtton: (2021-06-01)

Clinical outcomes in AchR antibody-positive myasthenia gravis: Where does rituximab stand in the current times?
Dahkki: Megha Chetan Dhamne
Almmustuhtton: (2023-01-01)

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

Consensus recommendation for the treatment of generalised Myasthenia Gravis with anti-acetylcholine receptor antibodies (gMG AChR+) in Spain
Dahkki: Elena Cortés-Vicente, et al.
Almmustuhtton: (2025-01-01)

Short-term and long-term prognoses in AChR-Ab positive very-late-onset myasthenia gravis patients
Dahkki: Nairong Xie, et al.
Almmustuhtton: (2025-01-01)

The association of PTPN22 R620W polymorphism is stronger with late-onset AChR-myasthenia gravis in Turkey.
Dahkki: Gizem A Kaya, et al.
Almmustuhtton: (2014-01-01)

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

Clinical Characteristics and Prognosis of Anti-AChR Positive Myasthenia Gravis Combined With Anti-LRP4 or Anti-Titin Antibody
Dahkki: Yuping Chen, et al.
Almmustuhtton: (2022-05-01)

Discovery of functionally distinct anti-C7 monoclonal antibodies and stratification of anti-nicotinic AChR positive Myasthenia Gravis patients
Dahkki: Eleonora Lekova, et al.
Almmustuhtton: (2022-09-01)

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

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

Practical Management for Use of Eculizumab in the Treatment of Severe, Refractory, Non-Thymomatous, AChR + Generalized Myasthenia Gravis: A Systematic Review
Dahkki: Waheed W, et al.
Almmustuhtton: (2022-07-01)