Analysis of FUS, PFN2, TDP-43, and PLS3 as potential disease severity modifiers in spinal muscular atrophy

OBJECTIVE: To investigate mutations in genes that are potential modifiers of spinal muscular atrophy (SMA) severity. METHODS: We performed a hypothesis-based search into the presence of variants in fused in sarcoma (FUS), transactive response DNA-binding protein 43 (TDP-43), plastin 3 (PLS3), and pr...

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Publicado no:Neurol Genet
Main Authors: Wadman, Renske I., Jansen, Marc D., Curial, Chantall A.D., Groen, Ewout J.N., Stam, Marloes, Wijngaarde, Camiel A., Medic, Jelena, Sodaar, Peter, van Eijk, Kristel R., Huibers, Manon M.H., van Kuik, Joyce, Lemmink, Henny H., van Rheenen, Wouter, Veldink, Jan Herman, van den Berg, Leonard H., van der Pol, W. Ludo
Formato: Artigo
Idioma:Inglês
Publicado em: Wolters Kluwer 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6975178/
https://ncbi.nlm.nih.gov/pubmed/32042914
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000386
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