Combining AR42, which protects nerve cells, and D156844, to increase SMN protein production, reduced SMA symptoms in a mouse ...

Among the 3 methods used across 478 samples included in the study, next-generation sequencing provided the most favorable results. As uptake of next-generation sequencing (NGS) continues across ...

A new study is underscoring the importance of diagnostic testing for patients with spinal muscular atrophy (SMA) to ensure early diagnosis of the disease. A new study is underscoring the importance of ...

Gene therapy GC101 safely improved or stabilized motor function in children and adolescents with SMA types 2 and 3, a small ...

The parents were both known carriers of SMN1 gene mutations that raised the risk of SMA, and sadly had previously had a child born with the disease who died at 16 months of age. Genetic testing of ...

The AmplideX PCR/CE SMN1 kit allows laboratories to quickly and easily determine SMN1 exon 7 copy number AUSTIN, Texas--(BUSINESS WIRE)--Asuragen, Inc., a molecular diagnostics company delivering high ...

Determining the copy number of SMN1 and SMN2 genes is notoriously difficult due to the high level of homology between the two genes. These genes, that are associated with spinal muscular atrophy (SMA) ...

CHESTERFIELD COUNTY, Va. (WRIC) — Spinal Muscular Atrophy (SMA) is a genetic disease that severely weakens muscles and causes developmental delays. It affects one in 10,000 American babies in the U.S.

Judith Sleeman receives funding from Muscular Dystrophy UK, MND Scotland, MRC, BBSRC and the Wellcome Trust. She is affiliated with MND Scotland. Babies born with the rare, inherited motor neuron ...

SMA is a neuromuscular disease that has the following clinical characteristics: Degeneration of lower motor neurons in the spinal cord motor (anterior horn neurons) and the brain nuclei Skeletal ...