Nature Cell Biology - Spinal muscular atrophy is caused by mutations in the survival motor neurons gene, SMN1. The SMN protein localizes to both the cytoplasm and the nuclear bodies. One hallmark ...

Watch Video Spinal muscular atrophy (SMA) describes a group of disorders associated with spinal motor neuron loss. The different forms of SMA are associated with numerous gene mutations and ...

In a hopeful step for medicine, a 2-and-a-half-year-old child born with spinal muscular atrophy (SMA ... induce increased ...

Roche is hoping to undercut hugely expensive rivals after the FDA approved its oral spinal muscular atrophy ... production of the survival of the motor neuron (SMN) protein.

This is the first time spinal muscular atrophy (SMA), a severe motor ... which is responsible for producing the survival ...

Digital PCR to simultaneously detect SMN1 gene defects and the number of SMN2 copies to diagnose SMA matches standard methods ...

Spinal muscular atrophy (SMA) is a rare genetic disorder that attacks motor neurons and weakens the voluntary muscles used for crawling, walking, head and neck control and swallowing. Last month ...

SMA is a devastating motor neuron disease which affects children. It is caused by an abnormal survival motor neuron (SMN) gene, which leads to a reduction of SMN protein levels. Approximately 50 ...

Aviana has spinal muscular atrophy type 1 (SMA1 ... s chromosome 5 has a recessive mutation that corrupts the survival motor neuron (SMN) genes. The SMN1 gene sends instructions to proteins ...