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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Publicat a:Neurol Genet
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Wolters Kluwer 2019
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Article
Accés en línia: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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