We performed hypothesis-free linkage analysis and exome sequencing in a family with two
siblings who had neuronal ceroid lipofuscinosis (NCL). Two linkage peaks with maximum …

Loss-of-function mutations in GRN cause frontotemporal dementia (FTD) with transactive
response DNA-binding protein of 43 kD (TDP-43)–positive inclusions and neuronal ceroid …

Loss-of-function mutations in progranulin (GRN) are a major autosomal dominant cause of
frontotemporal dementia. Most pathogenic GRN mutations result in progranulin …

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 …

Frontotemporal dementia (FTD) is a neurodegenerative disease with hallmark deficits in
social and emotional function. Heterozygous loss-of-function mutations in GRN, the …

Progranulin (PGRN) haploinsufficiency resulting from loss-of-function mutations in the
PGRN gene causes frontotemporal lobar degeneration accompanied by TDP-43 …

Heterozygous mutations in the GRN gene lead to progranulin (PGRN) haploinsufficiency
and cause frontotemporal dementia (FTD), a neurodegenerative syndrome of older adults …

Heterozygous mutations in the granulin (GRN) gene, resulting in the haploinsufficiency of
the progranulin (PGRN) protein, is a leading cause of frontotemporal lobar degeneration …