Neuropathology of FMR1-premutation carriers presenting with dementia and neuropsychiatric symptoms

CGG repeat expansions within the premutation range (55–200) of the FMR1 gene can lead to Fragile X-associated tremor/ataxia syndrome and Fragile X-associated neuropsychiatric disorders. These CGG repeats are translated into a toxic polyglycine-containing protein, FMRpolyG. Pathology of Fragile X-ass...

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Detalles Bibliográficos
Autores principales: Dijkstra, Anke A, Haify, Saif N, Verwey, Niek A, Prins, Niels D, van der Toorn, Esmay C, Rozemuller, Annemieke J M, Bugiani, Marianna, den Dunnen, Wilfred F A, Todd, Peter K, Charlet-Berguerand, Nicolas, Willemsen, Rob, Hukema, Renate K, Hoozemans, Jeroen J M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7936660/
https://www.ncbi.nlm.nih.gov/pubmed/33709078
http://dx.doi.org/10.1093/braincomms/fcab007

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7936660/
https://www.ncbi.nlm.nih.gov/pubmed/33709078
http://dx.doi.org/10.1093/braincomms/fcab007

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