Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72

Numerous kindreds with familial frontotemporal dementia and/or amyotrophic lateral sclerosis have been linked to chromosome 9, and an expansion of the GGGGCC hexanucleotide repeat in the non-coding region of chromosome 9 open reading frame 72 has recently been identified as the pathogenic mechanism....

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Auteurs principaux: Boeve, Bradley F., Boylan, Kevin B., Graff-Radford, Neill R., DeJesus-Hernandez, Mariely, Knopman, David S., Pedraza, Otto, Vemuri, Prashanthi, Jones, David, Lowe, Val, Murray, Melissa E., Dickson, Dennis W., Josephs, Keith A., Rush, Beth K., Machulda, Mary M., Fields, Julie A., Ferman, Tanis J., Baker, Matthew, Rutherford, Nicola J., Adamson, Jennifer, Wszolek, Zbigniew K., Adeli, Anahita, Savica, Rodolfo, Boot, Brendon, Kuntz, Karen M., Gavrilova, Ralitza, Reeves, Andrew, Whitwell, Jennifer, Kantarci, Kejal, Jack, Clifford R., Parisi, Joseph E., Lucas, John A., Petersen, Ronald C., Rademakers, Rosa
Format: Artigo
Langue:Inglês
Publié: Oxford University Press 2012
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Original Articles
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3286335/
https://ncbi.nlm.nih.gov/pubmed/22366793
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/aws004
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