Alternative splicing is a substantial contributor to the high complexity of transcriptomes of
multicellular eukaryotes. In this Review, we discuss the accumulated evidence that most of …

The precision and complexity of intron removal during pre-mRNA splicing still amazes even
26 years after the discovery that the coding information of metazoan genes is interrupted by …

Spinal muscular atrophy is one of the most common inherited forms of neurological disease
leading to infant mortality. Patients have selective loss of lower motor neurons resulting in …

The neurodegenerative disease spinal muscular atrophy (SMA) is caused by deficiency in
the survival motor neuron (SMN) protein. Currently approved SMA treatments aim to restore …

Spinal muscular atrophy (SMA) is a common autosomal recessive disorder in humans,
caused by homozygous absence of the survival motor neuron gene 1 (SMN1). SMN2, a …

Objective Infantile‐onset spinal muscular atrophy (SMA) is the most common genetic cause
of infant mortality, typically resulting in death preceding age 2. Clinical trials in this …

Spinal muscular atrophy is an autosomal recessive neurodegenerative disease
characterised by degeneration of spinal cord motor neurons, atrophy of skeletal muscles …

Spinal muscular atrophy (SMA), the most common autosomal recessive neurodegenerative
disease affecting children, results in impaired motor neuron function. Despite knowledge of …

Increasing survival of motor neuron 2, centromeric (SMN2) exon 7 inclusion to express more
full-length SMN protein in motor neurons is a promising approach to treat spinal muscular …

Many neurogenetic disorders are caused by the mutation of ubiquitously expressed genes.
One such disorder, spinal muscular atrophy, is caused by loss or mutation of the survival …