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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Autors principals: 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
Idioma:Inglês
Publicat: Oxford University Press 2012
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Original Articles
Accés en línia: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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