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Widespread CNS pathology in amyotrophic lateral sclerosis homozygous for the D90A SOD1 mutation
Mutations in the gene encoding the ubiquitously expressed free radical scavenging enzyme superoxide dismutase-1 (SOD1) are found in 2–6% of amyotrophic lateral sclerosis patients. The most frequent SOD1 mutation worldwide is D90A. Amyotrophic lateral sclerosis caused by this mutation has some unusua...
Autores principales: | Forsberg, Karin M., Graffmo, Karin S., Stenvall, Erica, Tabikh, Naima, Marklund, Stefan L., Brännström, Thomas, Andersen, Peter M. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Berlin Heidelberg
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9807479/ https://www.ncbi.nlm.nih.gov/pubmed/36385230 http://dx.doi.org/10.1007/s00401-022-02519-z |
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