Clinical and pathological features of amyotrophic lateral sclerosis caused by mutation in the C9ORF72 gene on chromosome 9p

Two studies recently identified a GGGGCC hexanucleotide repeat expansion in a non-coding region of the chromosome 9 open reading frame 72 gene (C9ORF72) as the cause of chromosome 9p-linked amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). In a cohort of 231 probands with ALS, w...

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Главные авторы: Stewart, Heather, Rutherford, Nicola J., Briemberg, Hannah, Krieger, Charles, Cashman, Neil, Fabros, Marife, Baker, Matt, Fok, Alice, DeJesus-Hernandez, Mariely, Eisen, Andrew, Rademakers, Rosa, Mackenzie, Ian R. A.
Формат: Artigo
Язык:Inglês
Опубликовано: 2012
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Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC3322555/
https://ncbi.nlm.nih.gov/pubmed/22228244
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00401-011-0937-5
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