Article
Respiratory onset of amyotrophic lateral sclerosis in a pregnant woman with a novel SOD1 mutation.
European journal of neurology - 1 Apr 2022
Masrori Pegah, Ospitalieri Simona, Forsberg Karin, Moens Thomas G, Poesen Koen, Race Valerie, Brännström Thomas, Andersen Peter M, Thal Dietmar R, Van Damme Philip
Abstract excerpt
BACKGROUND AND PURPOSE: With the advent of gene therapies for amyotrophic lateral sclerosis (ALS), the importance of gene testing in ALS is increasing. This will likely lead to the identification of new variants for which the pathogenicity is not established. We aimed to study the pathogenicity of a newly identified variant in superoxide dismutase 1 (SOD1). METHODS: Gene testing was performed using Sanger...
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