Proximal spinal muscular atrophy (SMA), a leading genetic cause of infant death worldwide,
is an early-onset, autosomal recessive neurodegenerative disease characterized by the loss …

Spinal muscular atrophy (SMA) is a leading genetic cause of infant death worldwide that is
characterized by loss of spinal motor neurons leading to muscle weakness and atrophy …

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 …

Introduction Infants with spinal muscular atrophy (SMA) type 1 typically face a decline in
motor function and a severely shortened life expectancy. Clinical trials for SMA type 1 …

The importance of alternative splicing in the regulation of diverse biological processes is
reflected in the growing list of human diseases associated with known or suspected splicing …

Neurodegeneration is a leading cause of death in the developed world and a natural, albeit
unfortunate, consequence of longer-lived populations. Despite great demand for therapeutic …

The multiplicity of proteins compared with genes in mammals owes much to alternative
splicing. Splicing signals are so subtle and complex that small perturbations may allow the …

Монография посвящена современным возможностям ДНК-диагностики и основанного
на ней медико-генетического консультирования при наследственных заболеваниях …

Neuromuscular disorders such as Duchenne Muscular Dystrophy and Spinal Muscular
Atrophy are neurodegenerative genetic diseases characterized primarily by muscle …

Spinal muscular atrophy (SMA) is a neuromuscular disease caused by reduced expression
of survival of motor neuron (SMN), a protein expressed in humans by two paralogous genes …