Disease-modifying effects of an SCAF4 structural variant in a predominantly SOD1 ALS cohort

OBJECTIVE: To test the hypothesis that rs573116164 will have disease-modifying effects in patients with superoxide dismutase 1 (SOD1) familial amyotrophic lateral sclerosis (fALS), we characterized rs573116164 within a cohort of 190 patients with fALS and 560 healthy age-matched controls to assess t...

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Detalles Bibliográficos
Autores principales: Pytte, Julia, Flynn, Loren L., Anderton, Ryan S., Mastaglia, Frank L., Theunissen, Frances, James, Ian, Pfaff, Abigail, Koks, Sulev, Saunders, Ann M., Bedlack, Richard, Burns, Daniel K., Lutz, Michael W., Siddique, Nailah, Siddique, Teepu, Roses, Allen D., Akkari, P. Anthony
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7357414/
https://www.ncbi.nlm.nih.gov/pubmed/32754644
http://dx.doi.org/10.1212/NXG.0000000000000470

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7357414/
https://www.ncbi.nlm.nih.gov/pubmed/32754644
http://dx.doi.org/10.1212/NXG.0000000000000470

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