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Cellular Bioenergetics and AMPK and TORC1 Signalling in Blood Lymphoblasts Are Biomarkers of Clinical Status in FMR1 Premutation Carriers
Fragile X Associated Tremor/Ataxia Syndrome (FXTAS) is a neurodegenerative disorder affecting carriers of premutation alleles (PM) of the X-linked FMR1 gene, which contain CGG repeat expansions of 55–200 range in a non-coding region. This late-onset disorder is characterised by the presence of tremo...
Autores principales: | Loesch, Danuta Z., Kemp, Bruce E., Bui, Minh Q., Fisher, Paul R., Allan, Claire Y., Sanislav, Oana, Ngoei, Kevin R. W., Atkinson, Anna, Tassone, Flora, Annesley, Sarah J., Storey, Elsdon |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8645580/ https://www.ncbi.nlm.nih.gov/pubmed/34880790 http://dx.doi.org/10.3389/fpsyt.2021.747268 |
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