A novel human-specific splice isoform alters the critical c-terminus of survival motor neuron protein. Sci Rep. 2016;6:30778. doi:10.1038/srep30778 9. Wirth B, Karakaya M, Kye MJ, et al. Twenty-five ...

SMA is caused by a defect in the survivor motor neuron one gene ... one is called SMN 1 – that’s what’s missing in spinal muscular atrophy.” Now, the first FDA-approved oral medication ...

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 ...

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An investigational higher dose of spinal muscular atrophy drug nusinersen gains attention as the FDA and European Medicines ...

Spinal muscular atrophy (SMA) It refers to a group of ... form is caused by a mutated or missing gene known as the survival motor neuron gene 1 (SMN1), which causes the neurons to deteriorate ...

Analytics company GlobalData has shared its optimism regarding the future of Novartis’ spinal muscular atrophy ... biallelic mutations in the survival motor neuron 1 (SMN1) gene.

More research is needed to confirm gray matter, the darker tissue found in the brain and spinal cord, “as a potential disease ...

Spinal muscular atrophy (SMA) is a genetic condition that causes muscle ... Motor neurons need a protein called SMN (survival motor neuron) to work. Most kinds of SMA are caused by a problem with a ...

Spinal muscular atrophy (SMA) is a genetic condition that causes muscle ... Motor neurons need a protein called SMN (survival motor neuron) to work. Most kinds of SMA are caused by a problem with a ...

Spinal muscular atrophy (SMA) is a group of genetic conditions ... Genetic causes of SMA In most types of SMA, a gene called survival motor neuron 1 (SMN1) is missing or abnormal. If a child inherits ...