Variability in Clinical Phenotype in TARDBP Mutations: Amyotrophic Lateral Sclerosis Case Description and Literature Review

Mutations in the 43 kDa transactive-response (TAR)-DNA-binding protein (TARDBP) are associated with 2–5% of familial Amyotrophic Lateral Sclerosis (ALS) cases. TAR DNA-Binding Protein 43 (TDP-43) is an RNA/DNA-binding protein involved in several cellular mechanisms (e.g., transcription, pre-mRNA pro...

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Detalles Bibliográficos
Autores principales: Lombardi, Michele, Corrado, Lucia, Piola, Beatrice, Comi, Cristoforo, Cantello, Roberto, D’Alfonso, Sandra, Mazzini, Letizia, De Marchi, Fabiola
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10671725/
https://www.ncbi.nlm.nih.gov/pubmed/38002982
http://dx.doi.org/10.3390/genes14112039

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10671725/
https://www.ncbi.nlm.nih.gov/pubmed/38002982
http://dx.doi.org/10.3390/genes14112039

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