Respiratory onset of amyotrophic lateral sclerosis in a pregnant woman with a novel SOD1 mutation

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...

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Detalles Bibliográficos
Autores principales: Masrori, Pegah, Ospitalieri, Simona, Forsberg, Karin, Moens, Thomas G., Poesen, Koen, Race, Valerie, Brännström, Thomas, Andersen, Peter M., Thal, Dietmar R., Van Damme, Philip
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
ALS and frontotemporal dementia
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9311846/
https://www.ncbi.nlm.nih.gov/pubmed/35253968
http://dx.doi.org/10.1111/ene.15224

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9311846/
https://www.ncbi.nlm.nih.gov/pubmed/35253968
http://dx.doi.org/10.1111/ene.15224

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