Twenty-five years ago, the underlying genetic cause for one of the most common and
devastating inherited diseases in humans, spinal muscular atrophy (SMA), was identified …

Spinal muscular atrophy (SMA) describes a group of disorders associated with spinal motor
neuron loss. In this review we provide an update regarding the most common form of SMA …

SMN1 and SMN2 (survival motor neuron) encode identical proteins. A critical question is
why only the homozygous loss of SMN1, and not SMN2, results in spinal muscular atrophy …

BACKGROUND Spinal muscular atrophy (SMA) is caused by deficient expression of survival
motor neuron (SMN) protein. New SMN-enhancing therapeutics are associated with variable …

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 …

Ever since loss of survival motor neuron (SMN) protein was identified as the direct cause of
the childhood inherited neurodegenerative disorder spinal muscular atrophy, significant …

Spinal muscular atrophy (SMA) is characterized by degeneration of motor neurons in the
spinal cord, causing progressive weakness of the limbs and trunk, followed by muscle …

survival of motor neuron 2, centromeric (SMN2) is a gene that modifies the severity of spinal
muscular atrophy (SMA), a motor-neuron disease that is the leading genetic cause of infant …

The 38 kDa survival motor neuron (SMN) protein is encoded by two ubiquitously expressed
genes: telomeric SMN (SMNT) and centromeric SMN (SMNC). Mutations in SMNT, but not …

Proximal spinal muscular atrophy (SMA) is a common motor neuron disease in humans and
in its most severe form causes death by the age of 2 years. It is caused by defects in the …