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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...

SLITRK2 , an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration

Archive ouverte | Barbier, Mathieu | CCSD

International audience. The G4C2-repeat expansion in C9orf72 is the most common cause of frontotemporal dementia and of amyotrophic lateral sclerosis. The variability of age at onset and phenotypic presentations is ...

Frontotemporal lobar degenerations, RNAopathy leading to proteinopathies

Archive ouverte | Anquetil, Vincent | CCSD

International audience

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