The human genome contains over one million short tandem repeats. Expansion of a subset
of these repeat tracts underlies over fifty human disorders, including common genetic …

The nucleoplasm is not homogenous; it consists of many types of nuclear bodies, also
known as nuclear domains or nuclear subcompartments. These self-organizing structures …

Expansions of short nucleotide repeats produce several neurological and neuromuscular
disorders including Huntington disease, muscular dystrophy, and amyotrophic lateral …

Epilepsy is a common neurological disorder, and mutations in genes encoding ion channels
or neurotransmitter receptors are frequent causes of monogenic forms of epilepsy. Here we …

Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are devastating
neurodegenerative disorders with clinical, genetic, and neuropathological overlap. A …

A population-based screen to determine the genetic frequency of myotonic dystrophy (DM)
is technically feasible but has not yet been performed on a large scale. The most ambitious …

Specific protein-RNA interactions guide posttranscriptional gene regulation. Here, we
describe RNA Bind-n-Seq (RBNS), a method that comprehensively characterizes sequence …

In mammals, the insulin receptor (IR) gene has acquired an additional exon, exon 11. This
exon may be skipped in a developmental and tissue-specific manner. The IR, therefore …

Abstract Amyotrophic Lateral Sclerosis (ALS) is a motor neuron disease affecting upper and
lower motor neurons in the central nervous system. Patients with ALS develop extensive …

Antisense oligonucleotides (ASOs) hold promise for gene-specific knockdown in diseases
that involve RNA or protein gain-of-function effects. In the hereditary degenerative disease …