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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6975178/
https://www.ncbi.nlm.nih.gov/pubmed/32042914
http://dx.doi.org/10.1212/NXG.0000000000000386

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6975178/
https://www.ncbi.nlm.nih.gov/pubmed/32042914
http://dx.doi.org/10.1212/NXG.0000000000000386

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