The abnormal regulation of alternative splicing is usually accompanied by the occurrence
and development of tumors, which would produce multiple different isoforms and diversify …

Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease caused by
deletion or mutation of SMN1. Four subtypes exist, characterized by different clinical …

Spinal muscular atrophy (SMA) is one of the most common autosomal recessive diseases
with progressive weakness of skeletal and respiratory muscles, leading to significant …

Spinal muscular atrophy (SMA) is a heritable neuromuscular disorder that causes
degeneration of the alpha motor neurons from anterior horn cells in the spinal cord, which …

Spinal muscular atrophy is one of the most common neuromuscular disorders of childhood
and has high morbidity and mortality. Three different disease-modifying treatments were …

Spinal muscular atrophy (SMA) is one of the leading causes of infant mortality. SMA is
mostly caused by low levels of Survival Motor Neuron (SMN) protein due to deletion of or …

In recent years, gene therapy has been raising hopes toward viable treatment strategies for
rare genetic diseases for which there has been almost exclusively supportive treatment. We …

Choroid plexus (ChP) epithelial cells are crucial for the function of the blood-cerebrospinal
fluid barrier (BCSFB) in the developing and mature brain. The ChP is considered the primary …

Gene therapy is defined as the administration of genetic material to modify, manipulate gene
expression or alter the properties of living cells for therapeutic purposes. Recent advances …

Tens of thousands of genetic variants shape human phenotypes, mostly by unknown cellular
mechanisms. Here we describe Census-seq, a way to measure cellular phenotypes in cells …