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1-3 of 3 results for CHRNE gene

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Select article: Characterization of Clinical Phenotypes in Congenital Myasthenic Syndrome Associated with the c.1327delG Frameshift Mutation in CHRNE Encoding the Acetylcholine Receptor Epsilon Subunit

Open access

Research article

First published 2024

Characterization of Clinical Phenotypes in Congenital Myasthenic Syndrome Associated with the c.1327delG Frameshift Mutation in CHRNE Encoding the Acetylcholine Receptor Epsilon Subunit

Kristina Kastreva, Teodora Chamova, Stanislava Blagoeva [...]

Journal of Neuromuscular Diseases

Select article: A Novel Homozygous Variant in the CHRNE Gene in 2 Siblings with Congenital Myasthenic Syndrome

Open access

Case report

First published 2023

A Novel Homozygous Variant in the CHRNE Gene in 2 Siblings with Congenital Myasthenic Syndrome

Cassie Chan, Lucy Emery, Caroline Maltese [...]

Child Neurology Open

Select article: Identifying the mediating role of brain atrophy on the relationship between DNA damage repair pathway and Alzheimer's disease: A Mendelian randomization analysis and mediation analysis

Available access

Research article

First published June, 2025

Identifying the mediating role of brain atrophy on the relationship between DNA damage repair pathway and Alzheimer's disease: A Mendelian randomization analysis and mediation analysis

Wei Bao, Haidi Bi, Lishuo Chao [...]

Journal of Alzheimer’s Disease

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