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C9ORF72 repeat expansion in clinical and neuropathologic frontotemporal dementia cohorts

OBJECTIVE: To determine the frequency of a hexanucleotide repeat expansion in C9ORF72, a gene of unknown function implicated in frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), in Australian FTD patient cohorts and to examine the clinical and neuropathologic phenotypes associat...

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Détails bibliographiques
Auteurs principaux: Dobson-Stone, Carol, Hallupp, Marianne, Bartley, Lauren, Shepherd, Claire E., Halliday, Glenda M., Schofield, Peter R., Hodges, John R., Kwok, John B.J.
Format: Artigo
Langue:Inglês
Publié: Lippincott Williams & Wilkins 2012
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3430710/
https://ncbi.nlm.nih.gov/pubmed/22875086
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e3182684634
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