Oligogenic basis of sporadic ALS: The example of SOD1 p.Ala90Val mutation

OBJECTIVE: To characterize the clinical and neuropathologic features of patients with amyotrophic lateral sclerosis (ALS) with the superoxide dismutase 1 (SOD1) p.Ala90Val mutation, as well as the mutation frequency and the role of oligogenic mechanisms in disease penetrance. METHODS: An index patie...

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Publicado en:Neurol Genet
Main Authors: Kuuluvainen, Liina, Kaivola, Karri, Mönkäre, Saana, Laaksovirta, Hannu, Jokela, Manu, Udd, Bjarne, Valori, Miko, Pasanen, Petra, Paetau, Anders, Traynor, Bryan J., Stone, David J., Schleutker, Johanna, Pöyhönen, Minna, Tienari, Pentti J., Myllykangas, Liisa
Formato: Artigo
Idioma:Inglês
Publicado: Wolters Kluwer 2019
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6481226/
https://ncbi.nlm.nih.gov/pubmed/31086828
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000335
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