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Frontotemporal Lobar Degeneration with TDP-43 Proteinopathy and Chromosome 9p Repeat Expansion in C9ORF72: Clinicopathologic Correlation

Mutations in C9ORF72 resulting in expanded hexanucleotide repeats were recently reported to be the underlying genetic abnormality in chromosome 9p-linked frontotemporal lobar degeneration with TAR DNA-binding protein of 43 kD (TDP-43) proteinopathy (FTLD-TDP), amyotrophic lateral sclerosis (ALS), an...

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Hlavní autoři: Bigio, Eileen H., Weintraub, Sandra, Rademakers, Rosa, Baker, Matt, Ahmadian, Saman S., Rademaker, Alfred, Weitner, Bing Bing, Mao, Qinwen, Lee, Kyung-Hwa, Mishra, Manjari, Ganti, Rakhee A., Mesulam, M-Marsel
Médium: Artigo
Jazyk:Inglês
Vydáno: 2012
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3449045/
https://ncbi.nlm.nih.gov/pubmed/22702520
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1440-1789.2012.01332.x
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