Spinal muscular atrophy (SMA) is a devastating childhood motor neuron disease that, in the
most severe cases and when left untreated, leads to death within the first two years of life …

RNA binding proteins are critical to the maintenance of the transcriptome via controlled
regulation of RNA processing and transport. Alterations of these proteins impact multiple …

Proximal spinal muscular atrophy (SMA) is a leading genetic cause for infant death in the
world and results from the selective loss of motor neurons in the spinal cord. SMA is a …

Introduction Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative
neuromuscular disease that presents primarily in children. Abnormalities in the SMN1 gene …

Introduction Spinal muscular atrophy (SMA) is a fatal neurodegenerative disorder,
characterized by motor neuron (MN) degeneration and severe muscular atrophy and caused …

Prion diseases are caused by the propagation of PrP Sc, the pathological conformation of
the PrP C prion protein. The molecular mechanisms underlying PrP Sc propagation are still …

Dysregulated RNA metabolism caused by SMN deficiency leads to motor neuron disease
spinal muscular atrophy (SMA). Current therapies improve patient outcomes but achieve no …

Spinal muscular atrophy (SMA) is a severe motor neuron (MN) disease caused by the
deletion or mutation of the survival motor neuron 1 (SMN1) gene, which results in reduced …

SMN protein deficiency causes motoneuron disease spinal muscular atrophy (SMA). SMN-
based therapies improve patient motor symptoms to variable degrees. An early hallmark of …

The motor neurodegenerative disease spinal muscular atrophy (SMA) is caused by
alterations of the survival motor neuron 1 (SMN1) gene involved in RNA metabolism …