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17
Identification of missing variants by combining multiple analytic pipelines.
Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family
Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration
Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia
Genome-wide screen identifies rs646776 near sortilin as a regulator of progranulin levels in human plasma
Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis
Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17
Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72
Neurodegeneration. C9ORF72 repeat expansions in mice cause TDP-43 pathology, neuronal loss, and behavioral deficits
Aggregation-prone c9FTD/ALS poly(GA) RAN-translated proteins cause neurotoxicity by inducing ER stress
