Dipeptide repeat protein inclusions are rare in the spinal cord and almost absent from motor neurons in C9ORF72 mutant amyotrophic lateral sclerosis and are unlikely to cause their degeneration

INTRODUCTION: Cytoplasmic TDP-43 inclusions are the pathological hallmark of amyotrophic lateral sclerosis (ALS) and tau-negative frontotemporal lobar dementia (FTLD). The G(4)C(2) repeat mutation in C9ORF72 is the most common cause of ALS and FTLD in which, in addition to TDP-43 inclusions, five di...

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Detalles Bibliográficos
Autores principales: Gomez-Deza, Jorge, Lee, Youn-bok, Troakes, Claire, Nolan, Matthew, Al-Sarraj, Safa, Gallo, Jean-Marc, Shaw, Christopher E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4479315/
https://www.ncbi.nlm.nih.gov/pubmed/26108573
http://dx.doi.org/10.1186/s40478-015-0218-y

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