Cargando…
Misfolded SOD1 inclusions in patients with mutations in C9orf72 and other ALS/FTD-associated genes
OBJECTIVE: A hallmark of amyotrophic lateral sclerosis (ALS) caused by mutations in superoxide dismutase-1 (SOD1) are inclusions containing SOD1 in motor neurons. Here, we searched for SOD1-positive inclusions in 29 patients carrying ALS-linked mutations in six other genes. METHODS: A panel of antib...
Autores principales: | Forsberg, Karin, Graffmo, Karin, Pakkenberg, Bente, Weber, Markus, Nielsen, Martin, Marklund, Stefan, Brännström, Thomas, Andersen, Peter Munch |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BMJ Publishing Group
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6691870/ https://www.ncbi.nlm.nih.gov/pubmed/30992335 http://dx.doi.org/10.1136/jnnp-2018-319386 |
Ejemplares similares
-
Examining the language and behavioural profile in FTD and ALS-FTD
por: Saxon, Jennifer A, et al.
Publicado: (2017) -
Gyrification abnormalities in presymptomatic c9orf72 expansion carriers
por: Caverzasi, Eduardo, et al.
Publicado: (2019) -
Widespread structural brain involvement in ALS is not limited to the C9orf72 repeat expansion
por: Westeneng, Henk-Jan, et al.
Publicado: (2016) -
Unravelling the clinical spectrum and the role of repeat length in C9ORF72 repeat expansions
por: van der Ende, Emma L., et al.
Publicado: (2021) -
Genetic screening in sporadic ALS and FTD
por: Turner, Martin R, et al.
Publicado: (2017)