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A Novel TBK1 Variant (Lys694del) Presenting With Corticobasal Syndrome in a Family With FTD-ALS Spectrum Diseases: Case Report

Several variants of the TANK-Binding Kinase 1 (TBK1) gene have been associated with frontotemporal dementia - amyotrophic lateral sclerosis (FTD-ALS) spectrum diseases. Corticobasal syndrome (CBS) is characterized by asymmetric limb rigidity, dystonia or myoclonus, in association with speech or limb...

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Detalles Bibliográficos
Autores principales: Seibert, Kaitlin, Smith, Heather, Lapins, Allison, Pytel, Peter, Mastrianni, James A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8931496/
https://www.ncbi.nlm.nih.gov/pubmed/35309588
http://dx.doi.org/10.3389/fneur.2022.826676