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Poly-GR dipeptide repeat polymers correlate with neurodegeneration and Clinicopathological subtypes in C9ORF72-related brain disease

Frontotemporal lobar degeneration (FTLD) is heterogeneous in clinical presentation, neuropathological characteristics and genetics. An expanded GGGGCC hexanucleotide repeat in C9ORF72 is the most common genetic cause of both FTLD and motor neuron disease (MND). Dipeptide repeat polymers (DPR) are ge...

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Detalles Bibliográficos
Autores principales: Sakae, Nobutaka, Bieniek, Kevin F., Zhang, Yong-Jie, Ross, Kelly, Gendron, Tania F., Murray, Melissa E., Rademakers, Rosa, Petrucelli, Leonard, Dickson, Dennis W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6054740/
https://www.ncbi.nlm.nih.gov/pubmed/30029693
http://dx.doi.org/10.1186/s40478-018-0564-7