Cargando…

Slow‐channel myasthenia due to novel mutation in M2 domain of AChR delta subunit

OBJECTIVE: To characterize the molecular and phenotypic basis of a severe slow‐channel congenital myasthenic syndrome (SCCMS). METHODS: Intracellular and single‐channel recordings from patient endplates; alpha‐bungarotoxin binding studies; direct sequencing of AChR genes; microsatellite analysis; ki...

Descripción completa

Detalles Bibliográficos
Autores principales:	Shen, Xin‐Ming, Milone, Margherita, Wang, Hang‐Long, Banwell, Brenda, Selcen, Duygu, Sine, Steven M., Engel, Andrew G.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2019
Materias:	Research Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6801167/ https://www.ncbi.nlm.nih.gov/pubmed/31560172 http://dx.doi.org/10.1002/acn3.50902

Ejemplares similares

Impaired gating of γ‐ and ε‐AChR respectively causes Escobar syndrome and fast‐channel myasthenia
por: Shen, Xin‐Ming, et al.
Publicado: (2023)

Myasthenia gravis AChR antibodies inhibit function of rapsyn-clustered AChRs
por: Cetin, Hakan, et al.
Publicado: (2020)

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

Nomogram for short-term outcome assessment in AChR subtype generalized myasthenia gravis
por: Zhao, Rui, et al.
Publicado: (2021)

Improved resolution of single channel dwell times reveals mechanisms of binding, priming, and gating in muscle AChR
por: Mukhtasimova, Nuriya, et al.
Publicado: (2016)

Direct Proof of the In Vivo Pathogenic Role of the AChR Autoantibodies from Myasthenia Gravis Patients
por: Kordas, Gregory, et al.
Publicado: (2014)

Differential Cytokine Changes in Patients with Myasthenia Gravis with Antibodies against AChR and MuSK
por: Yilmaz, Vuslat, et al.
Publicado: (2015)

Compromised fidelity of B‐cell tolerance checkpoints in AChR and MuSK myasthenia gravis
por: Lee, Jae‐Yun, et al.
Publicado: (2016)

Plasma Myokine Profiles in Patients With AChR- and MuSK-Ab-Positive Myasthenia Gravis
por: Seok, Jo Woon, et al.
Publicado: (2023)

The Clinical Outcome in AChR-Positive Generalized Myasthenia Gravis: A Retrospective Observational Study
por: Ojha, Pawan T., et al.
Publicado: (2023)

Impact of Key Nicotinic AChR Subunits on Post-Stroke Pneumococcal Pneumonia
por: Jagdmann, Sandra, et al.
Publicado: (2020)

Correction: Direct Proof of the In Vivo Pathogenic Role of the AChR Autoantibodies from Myasthenia Gravis Patients
Publicado: (2015)

Correction: Direct Proof of the In Vivo Pathogenic Role of the AChR Autoantibodies from Myasthenia Gravis Patients
Publicado: (2015)

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

SHP2 inhibitor protects AChRs from effects of myasthenia gravis MuSK antibody
por: Huda, Saif, et al.
Publicado: (2019)

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

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

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

Neural factors regulate AChR subunit mRNAs at rat neuromuscular synapses
Publicado: (1991)

AChR deficiency due to ε-subunit mutations: two common mutations in the Netherlands
por: Faber, Catharina G., et al.
Publicado: (2009)

Loss of MUNC13-1 function causes microcephaly, cortical hyperexcitability, and fatal myasthenia
por: Engel, Andrew G., et al.
Publicado: (2016)

Autoantibody of NRIP, a novel AChR‐interacting protein, plays a detrimental role in myasthenia gravis
por: Tsai, Li‐Kai, et al.
Publicado: (2021)

Comparison of Fixed and Live Cell-Based Assay for the Detection of AChR and MuSK Antibodies in Myasthenia Gravis
por: Spagni, Gregorio, et al.
Publicado: (2022)

Clinical Outcomes in AchR Antibody-Positive Myasthenia Gravis: Where Does Rituximab Stand in the Current Times?
por: Dhamne, Megha Chetan
Publicado: (2023)

Expression and Possible Role of Nicotinic Acetylcholine Receptor ε Subunit (AChRe) in Mouse Sperm
por: Makino, Yusei, et al.
Publicado: (2021)

Rituximab in the Management of Refractory Myasthenia Gravis and Variability of Its Efficacy in Anti-MuSK Positive and Anti-AChR Positive Myasthenia Gravis
por: Bastakoti, Sanjiv, et al.
Publicado: (2021)

Clinical application of clustered-AChR for the detection of SNMG
por: Zhao, Guang, et al.
Publicado: (2015)

The Association of PTPN22 R620W Polymorphism Is Stronger with Late-Onset AChR-Myasthenia Gravis in Turkey
por: Kaya, Gizem A., et al.
Publicado: (2014)

IgG1-3 MuSK Antibodies Inhibit AChR Cluster Formation, Restored by SHP2 Inhibitor, Despite Normal MuSK, DOK7, or AChR Subunit Phosphorylation
por: Cao, Michelangelo, et al.
Publicado: (2023)

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

FoxP3(−) Tr1 Cell in Generalized Myasthenia Gravis and Its Relationship With the Anti-AChR Antibody and Immunomodulatory Cytokines
por: Meng, Huanyu, et al.
Publicado: (2021)

Juvenile Generalized Myasthenia Gravis With AChR and MuSK Antibody Double Positivity: A Case Report With a Review of the Literature
por: Ge, XiuShan, et al.
Publicado: (2022)

Practical Management for Use of Eculizumab in the Treatment of Severe, Refractory, Non-Thymomatous, AChR + Generalized Myasthenia Gravis: A Systematic Review
por: Waheed, Waqar, et al.
Publicado: (2022)

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

alpha-Actinin interacts with rapsyn in agrin-stimulated AChR clustering
por: Dobbins, G Clement, et al.
Publicado: (2008)

Design of efficient DNAzymes against muscle AChR α-subunit cRNA in vitro and in HEK 293 cells
por: Abdelgany, Amr, et al.
Publicado: (2005)

Myasthenia Gravis With Thymoma, Manifesting as AChR-Ab-Positive, Distinct Bulbar Palsy Accompanied by Dysgeusia: A Case Series and Review of Literature
por: Zhu, Kai, et al.
Publicado: (2018)

A Patient with Fulminant Myasthenia Gravis Is Seropositive for Both AChR and LRP4 Antibodies, Complicated by Autoimmune Polyglandular Syndrome Type 3
por: Inoue, Hiroyasu, et al.
Publicado: (2020)

Effective Early Treatment of AChR Antibody-Positive Myasthenia Gravis with Rituximab; the Experience from a Neuroimmunology Clinic in a Developing Country
por: Mathew, Thomas, et al.
Publicado: (2021)

Practical Management for Use of Eculizumab in the Treatment of Severe, Refractory, Non-Thymomatous, AChR + Generalized Myasthenia Gravis: A Systematic Review [Erratum]
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_03a0jr52mdko83gi1mgt4tr3p8