GLUT-1 changes in paediatric Huntington disease brain cortex and fibroblasts: an observational case-control study

BACKGROUND: Paediatric Huntington disease with highly expanded mutations (HE-PHD; >80 CAG repeats) presents atypically, compared to adult-onset Huntington disease (AOHD), with neurodevelopmental delay, epilepsy, abnormal brain glucose metabolism, early striatal damage, and reduced lifespan. Since...

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Detalles Bibliográficos
Autores principales: Tramutola, Antonella, Bakels, Hannah S., Perrone, Federica, Di Nottia, Michela, Mazza, Tommaso, Abruzzese, Maria Pia, Zoccola, Martina, Pagnotta, Sara, Carrozzo, Rosalba, de Bot, Susanne T., Perluigi, Marzia, van Roon-Mom, Willeke M.C., Squitieri, Ferdinando
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10630613/
https://www.ncbi.nlm.nih.gov/pubmed/37898095
http://dx.doi.org/10.1016/j.ebiom.2023.104849

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10630613/
https://www.ncbi.nlm.nih.gov/pubmed/37898095
http://dx.doi.org/10.1016/j.ebiom.2023.104849

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