Outputs (22)

Pathogenic commonalities between spinal muscular atrophy and amyotrophic lateral sclerosis: converging roads to therapeutic development (2018)
Journal Article
Bowerman, M., Murray, L., Scamps, F., Schneider, B., Kothary, R., & Raoul, C. (2018). Pathogenic commonalities between spinal muscular atrophy and amyotrophic lateral sclerosis: converging roads to therapeutic development. European Journal of Medical Genetics, 685-698. https://doi.org/10.1016/j.ejmg.2017.12.001

Spinal muscular atrophy (SMA) and amyotrophic lateral sclerosis (ALS) are the two most common motoneuron disorders, which share typical pathological hallmarks while remaining genetically distinct. Indeed, SMA is caused by deletions or mutations in th... Read More about Pathogenic commonalities between spinal muscular atrophy and amyotrophic lateral sclerosis: converging roads to therapeutic development.

Light modulation ameliorates expression of circadian genes and disease progression in spinal muscular atrophy mice (2018)
Journal Article
Walter, L. M., Koch, C. E., Betts, C. A., Ahlskog, N., Meijboom, K. E., van Westering, T. L. E., …Bowerman, M. (2018). Light modulation ameliorates expression of circadian genes and disease progression in spinal muscular atrophy mice. Human molecular genetics, 27(20), 3582-3597. https://doi.org/10.1093/hmg/ddy249

Physiology and behaviour are critically dependent on circadian regulation via a core set of clock genes, dysregulation of which leads to metabolic and sleep disturbances. Metabolic and sleep perturbations occur in spinal muscular atrophy (SMA), a neu... Read More about Light modulation ameliorates expression of circadian genes and disease progression in spinal muscular atrophy mice.