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Relations between C9orf72 expansion size in blood, age at onset, age at collection and transmission across generations in patients and presymptomatic carriers

Archive ouverte | Fournier, Clémence | CCSD

International audience. A (GGGGCC)n repeat expansion in C9orf72 gene is the major cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). The relations between the repeats size and the age at...

Reduced Tau protein expression is associated with frontotemporal degeneration with progranulin mutation

Archive ouverte | Papegaey, Anthony | CCSD

International audience. AbstractReduction of Tau protein expression was described in 2003 by Zhukareva et al. in a variant of frontotemporal lobar degeneration (FTLD) referred to as diagnosis of dementia lacking dis...

Interrupted CAG expansions in ATXN2 gene expand the genetic spectrum of frontotemporal dementias

Archive ouverte | Fournier, Clémence | CCSD

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