Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia

An expanded hexanucleotide repeat in the C9orf72 gene is the most common genetic cause of frontotemporal dementia and amyotrophic lateral sclerosis (c9FTD/ALS). We now report the first description of a homozygous patient and compare it to a series of heterozygous cases. The patient developed early-o...

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Main Authors: Fratta, Pietro, Poulter, Mark, Lashley, Tammaryn, Rohrer, Jonathan D., Polke, James M., Beck, Jon, Ryan, Natalie, Hensman, Davina, Mizielinska, Sarah, Waite, Adrian J., Lai, Mang-Ching, Gendron, Tania F., Petrucelli, Leonard, Fisher, Elizabeth M. C., Revesz, Tamas, Warren, Jason D., Collinge, John, Isaacs, Adrian M., Mead, Simon
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2013
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Original Paper
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3753468/
https://ncbi.nlm.nih.gov/pubmed/23818065
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00401-013-1147-0
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