Long-read sequencing, paralog-aware variant calling, and telomere-to-telomere (T2T) human genome assemblies now enable the resolution of copy-, haplotype-, and nucleotide-level complexities in segment...

Scheme is part of the government's 10-year plan for the NHS in England aimed at easing pressure on services.

Ramadan et al. employ expansion microscopy to visualize neuromuscular junctions in human and mouse muscles. Their findings demonstrate expansion microscopy as an accessible and cost-effective approach...

Spinal muscular atrophy (SMA) is a severe neurodegenerative disease caused by defects in the survival motor neuron 1 (SMN1) gene. Although disease severity partially correlates with SMN2 copy number, ...

Apr 2025: A team of researchers led by Prof Tom Gillingwater's laboratory at the University of Edinburgh, have uncovered the complex series of molecular changes that occur in motor neurons around the ...

Superfluous axons are removed from muscle fibers through temporal changes in mRNA translation.

Abstract. Spinal muscular atrophy (SMA) is an autosomal recessive disease most commonly caused by homozygous deletion of the SMN1 gene. Parents of affected

Millions of ribosomes are packed within mammalian cells, yet we lack tools to visualize them in toto and characterize their subcellular composition. In this study, we present ribosome expansion micros...

Nature Reviews Neurology - This Review explores several key dysregulated pathways in ALS (RNA processing, proteostasis, metabolism and inflammation) as well as evolving efforts to develop effective...

There is a long history of ALS therapies being promoted on the basis of Phase 2 data, which then fail to translate into meaningful benefits in Phase 3 tria

Spinal muscular atrophy (SMA) is a severe neurodegenerative disease caused by defects in the surviva

Groen and colleagues investigate personalized treatment strategies for spinal muscular atrophy (SMA) using patient-derived fibroblasts. They reveal that response to splicing-modifying therapies varies...

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