Tandem repeats represent one of the most abundant class of variations in human genomes,
which are polymorphic by nature and become highly unstable in a length-dependent …

Essential tremor (ET) is one of the most common movement disorders, with a reported> 60
million affected individuals worldwide. The definition and underlying pathophysiology of ET …

Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disease
characterized by the presence of intranuclear inclusions of unknown origin. NIID is caused …

Oculopharyngodistal myopathy (OPDM) is an adult-onset neuromuscular disease
characterized by progressive ocular, facial, pharyngeal and distal limb muscle involvement …

Oculopharyngodistal myopathy (OPDM) is a rare hereditary muscle disease characterized
by progressive distal limb weakness, ptosis, ophthalmoplegia, bulbar muscle weakness and …

Background Abnormal expanded GGC repeats within the NOTCH2HLC gene has been
confirmed as the genetic mechanism for most Asian patients with neuronal intranuclear …

Abstract Endocannabinoid (eCB), 2-arachidonoyl-glycerol (2-AG), the most abundant eCB in
the brain, regulates diverse neural functions. Here we linked multiple homozygous loss-of …

Recent studies indicate that CGG repeat expansions in LRP12, GIPC1, and NOTCH2NLC
are associated with oculopharyngodistal myopathy (OPDM) types 1, 2, and 3, respectively …

Objective To determine whether the GGC repeats in the NOTCH2NLC gene contribute to
amyotrophic lateral sclerosis (ALS). Methods In this study, 545 patients with ALS and 1,305 …

Neuronal intranuclear inclusion disease (NIID) is a neuromuscular/neurodegenerative
disease caused by the expansion of CGG repeats in the 5′ untranslated region (UTR) of …