Alternative splicing of pre-mRNA increases genetic diversity, and recent studies estimate
that most human multiexon genes are alternatively spliced. If this process is not highly …

Increasing incidence of neurodegenerative disorders such as Alzheimer's disease and
Parkinson's disease has become one of the most challenging health issues in ageing …

Leber congenital amaurosis (LCA) is the most severe form of retinal dystrophy with an onset
in the first year of life. The most frequent genetic cause of LCA, accounting for up to 15% of …

Autosomal-recessive proximal spinal muscular atrophy (Werdnig–Hoffmann, Kugelberg–
Welander) is caused by mutation of the SMN1 gene, and the clinical severity correlates with …

Mouse models of human disease are an important tool for studying disease mechanism and
manifestation in a way that is physiologically relevant. Spinal muscular atrophy (SMA) is a …

Humans have two nearly identical copies of survival motor neuron gene: SMN1 and SMN2.
Deletion or mutation of SMN1 combined with the inability of SMN2 to compensate for the …

Background Spinal muscular atrophy (SMA) is a devastating neuromuscular disease caused
by hypomorphic loss of function in the survival motor neuron (SMN) protein. SMA presents …

Background Mouse models of mild spinal muscular atrophy (SMA) have been extremely
challenging to generate. This paucity of model systems has limited our understanding of …

Bench to bedside progress has been widely anticipated for a growing number of
neurodegenerative disorders. Of these, spinal muscular atrophy (SMA) is perhaps the best …

Inherited retinal dystrophies are caused by mutations in more than 250 genes, each of them
carrying several types of mutations that can lead to different clinical phenotypes. Mutations …