Frontotemporal dementia (FTD) is a neurodegenerative disease of growing interest, since it
accounts for up to 10% of middle-age-onset dementias and entails a social, economic, and …

Loss-of-function mutations in the progranulin gene are a common cause of familial
frontotemporal dementia (FTD). The purpose of this review is to summarize the role of …

Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disease caused by
mutations in the ALDH7A1 gene leading to blockade of the lysine catabolism pathway. PDE …

Background Progranulin deficiency due to heterozygous null mutations in the GRN gene are
a common cause of familial frontotemporal lobar degeneration (FTLD), while homozygous …

Loss-of-function mutations in the progranulin gene (GRN) are a common cause of familial
frontotemporal lobar degeneration (FTLD). A high degree of heterogeneity in the age-of …

Progranulin (PGRN) haploinsufficiency accounts for up to 10% of frontotemporal lobe
dementia. PGRN has also been implicated in neuroinflammation in acute and chronic …

Progranulin deficiency due to heterozygous null mutations in the GRN gene is a common
cause of familial frontotemporal lobar degeneration (FTLD), while homozygous loss-of …

The granulin protein (also known as, and hereafter referred to as, progranulin) is a secreted
glycoprotein that contributes to overall brain health. Heterozygous loss-of-function mutations …

Haploinsufficient loss of progranulin (PGRN) is implicated in both frontotemporal lobar
dementia (FTD) and Alzheimer's disease (AD). Furthermore, Grn polymorphisms have been …