Transcriptomic characterization of tissues from patients and subsequent pathway analyses reveal biological pathways that are implicated in spastic ataxia

BACKGROUND: Spastic ataxias (SAs) encompass a group of rare and severe neurodegenerative diseases, characterized by an overlap between ataxia and spastic paraplegia clinical features. They have been associated with pathogenic variants in a number of genes, including GBA2. This gene codes for the non...

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Detalles Bibliográficos
Autores principales: Kakouri, Andrea C., Votsi, Christina, Oulas, Anastasis, Nicolaou, Paschalis, Aureli, Massimo, Lunghi, Giulia, Samarani, Maura, Compagnoni, Giacomo M., Salani, Sabrina, Di Fonzo, Alessio, Christophides, Thalis, Tanteles, George A., Zamba-Papanicolaou, Eleni, Pantzaris, Marios, Spyrou, George M., Christodoulou, Kyproula
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8917697/
https://www.ncbi.nlm.nih.gov/pubmed/35277195
http://dx.doi.org/10.1186/s13578-022-00754-1

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