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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 2 (of 2 Records)

Query Trace: Myasthenia Gravis and CHRNE[original query]
Congenital myasthenic syndrome in a cohort of patients with 'double' seronegative myasthenia gravis.
Arquivos de neuro-psiquiatria 2021 12 80 (1): 69-74.
Lorenzoni Paulo José, Ducci Renata Dal-Pra, Arndt Raquel Cristina, Hrysay Nyvia Milicio Coblinski, Fustes Otto Jesus Hernandez, Töpf Ana, Lochmüller Hanns, Werneck Lineu Cesar, Kay Cláudia Suemi Kamoi, Scola Rosana Hermin
Characterization of Clinical Phenotypes in Congenital Myasthenic Syndrome Associated with the c.1327delG Frameshift Mutation in CHRNE Encoding the Acetylcholine Receptor Epsilon Subunit.
Journal of neuromuscular diseases 2024 7 .
Kristina Kastreva, Teodora Chamova, Stanislava Blagoeva, Stoyan Bichev, Violeta Mihaylova, Stefanie Meyer, Rachel Thompson, Sylvia Cherninkova, Velina Guergueltcheva, Hanns Lochmuller, Ivailo Tourn
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