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Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study.
A novel phosphorylation site mutation in profilin 1 revealed in a large screen of US, Nordic, and German amyotrophic lateral sclerosis/frontotemporal dementia cohorts.
The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder.
A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories.
CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia.
Comparative analysis of C9orf72 and sporadic disease in an ALS clinic population.
The RNA-binding protein FUS/TLS undergoes calcium-mediated nuclear egress during excitotoxic stress and is required for GRIA2 mRNA processing.
CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosis.
Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.
Novel TUBA4A Variant Associated With Familial Frontotemporal Dementia.