Microsatellites, or simple tandem repeat sequences, occur naturally in the human genome
and have important roles in genome evolution and function. However, the expansion of …

Prion diseases are transmissible spongiform encephalopathies (TSEs) caused by a
conformational conversion of the native cellular prion protein (PrPC) to an abnormal …

The G4C2 hexanucleotide repeat expansion (HRE) in C9orf72 is the commonest cause of
familial amyotrophic lateral sclerosis (ALS). A number of different methods have been used …

Epigenetic defects caused by hereditary or de novo mutations are implicated in various
human diseases. It remains uncertain whether correcting the underlying mutation can …

Amyotrophic lateral sclerosis (ALS) is a progressive and fatal neuromuscular disorder with
no cure available and limited treatment options. ALS is a highly heterogeneous disease …

Frontotemporal dementia (FTD) describes a group of clinically heterogeneous conditions
that frequently affect people under the age of 65 (Le Ber et al., 2013). There are multiple …

Neurological diseases, including dementias such as Alzheimer's disease (AD) and fronto-
temporal dementia (FTD) and degenerative motor neuron diseases such as amyotrophic …

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder and is characterized by
degeneration and axon loss from the upper motor neuron, that descends from the lower …

Abstract Background Amyotrophic Lateral Sclerosis (ALS) is a fatal and progressive
neurodegenerative disorder with identified genetic causes representing a significant …

Pathological mutations involving noncoding microsatellite repeats are typically located near
promoters in CpG islands and are coupled with extensive repeat instability when sufficiently …