It has been 15 years since the birth of human induced pluripotent stem cell (iPSC)
technology in 2007, and the scope of its application has been expanding. In addition to the …

Background Genetic studies have shown that C9orf72, SOD1, TARDBP and FUS are the
most common mutated genes in amyotrophic lateral sclerosis (ALS). Here, we performed a …

Background: Amyotrophic lateral sclerosis (ALS) is relatively rare, yet the economic and
social burden is substantial. Having accurate incidence and prevalence estimates would …

Several families have been reported with autosomal-dominant frontotemporal dementia
(FTD) and amyotrophic lateral sclerosis (ALS), genetically linked to chromosome 9p21 …

The chromosome 9p21 amyotrophic lateral sclerosis-frontotemporal dementia (ALS-FTD)
locus contains one of the last major unidentified autosomal-dominant genes underlying …

Background We aimed to accurately estimate the frequency of a hexanucleotide repeat
expansion in C9orf72 that has been associated with a large proportion of cases of …

Background Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative
disease of upper and lower motor neurons, associated with frontotemporal dementia (FTD) …

Frontotemporal dementia (FTD) is a clinical syndrome with a heterogeneous molecular
basis. Until recently, the underlying cause was known in only a minority of cases that were …

Hexanucleotide repeat expansions in C9orf72 are a major cause of frontotemporal lobar
degeneration (FTLD) and amyotrophic lateral sclerosis (ALS). Understanding the disease …

Intronic expansion of the GGGGCC hexanucleotide repeat within the C9ORF72 gene
causes frontotemporal dementia and amyotrophic lateral sclerosis/motor neuron disease in …