Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion☆

Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion☆

An expanded hexanucleotide repeat in the C9orf72 gene is the most common genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia (C9ALS/FTD). Although 0–30 hexanucleotide repeats are present in the general population, expansions >500 repeats are associated with C9ALS/FTD. Large...

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Bibliographic Details
Main Authors: Fratta, Pietro, Polke, James M., Newcombe, Jia, Mizielinska, Sarah, Lashley, Tammaryn, Poulter, Mark, Beck, Jon, Preza, Elisavet, Devoy, Anny, Sidle, Katie, Howard, Robin, Malaspina, Andrea, Orrell, Richard W., Clarke, Jan, Lu, Ching-Hua, Mok, Kin, Collins, Toby, Shoaii, Maryam, Nanji, Tina, Wray, Selina, Adamson, Gary, Pittman, Alan, Renton, Alan E., Traynor, Bryan J., Sweeney, Mary G., Revesz, Tamas, Houlden, Henry, Mead, Simon, Isaacs, Adrian M., Fisher, Elizabeth M.C.
Format: Online
Language:English
Published: Elsevier 2015
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4270445/

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4270445/

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