Outputs (5)

Open‐labelled study to monitor the effect of an amino acid formula on symptom management in children with spinal muscular atrophy type I: The SMAAF pilot study (2022)
Journal Article
Bowerman, M., O'Connor, G., Edel, L., Raquq, S., Szmurlo, A., Simpson, Z., …Baranello, G. (2023). Open‐labelled study to monitor the effect of an amino acid formula on symptom management in children with spinal muscular atrophy type I: The SMAAF pilot study. Nutrition in Clinical Practice, 38(4), 871-880. https://doi.org/10.1002/ncp.10940

Background: An increasing number of families of spinal muscular atrophy (SMA) children are incorporating an amino acid-based enteral formula into their child’s feeding regimens. Other components of the amino acidbased formula include added carbohydra... Read More about Open‐labelled study to monitor the effect of an amino acid formula on symptom management in children with spinal muscular atrophy type I: The SMAAF pilot study.

Differential expression of intermediate filament proteins: lamins A/C and desmin within and between adult skeletal muscles (2022)
Journal Article
Shaqoura, E., McCallion, E., Fuller, H., & Bowerman, M. (2022). Differential expression of intermediate filament proteins: lamins A/C and desmin within and between adult skeletal muscles. Neuromuscular Disorders, S109 - S109. https://doi.org/10.1016/j.nmd.2022.07.277

264th ENMC International Workshop: Multi-system involvement in spinal muscular atrophy Hoofddorp, the Netherlands, November 19th – 21st 2021 (2022)
Journal Article
Detering, N. T., Zambon, A., Hensel, N., Kothary, R., Swoboda, K., Gillingwater, T. H., …Bowerman. (2022). 264th ENMC International Workshop: Multi-system involvement in spinal muscular atrophy Hoofddorp, the Netherlands, November 19th – 21st 2021. Neuromuscular Disorders, 32(8), 697-705. https://doi.org/10.1016/j.nmd.2022.06.005

Dysregulation of Tweak and Fn14 in skeletal muscle of spinal muscular atrophy mice (2022)
Journal Article
Bowerman, Meijboom, K. E., Sutton, E. R., McCallion, E., McFall, E., Anthony, D., …Bowerman, M. (2022). Dysregulation of Tweak and Fn14 in skeletal muscle of spinal muscular atrophy mice. Skeletal Muscle, 12(1), 1-25. https://doi.org/10.1186/s13395-022-00301-z

Background: Spinal muscular atrophy (SMA) is a childhood neuromuscular disorder caused by depletion of the survival motor neuron (SMN) protein. SMA is characterized by the selective death of spinal cord motor neurons, leading to progressive muscle wa... Read More about Dysregulation of Tweak and Fn14 in skeletal muscle of spinal muscular atrophy mice.

Differential effect of Fas activation on spinal muscular atrophy motoneuron death and induction of axonal growth (2022)
Other
Hilaire, C., Benlefki, S., Younes, R., Challuau, D., Bernard-Marissal, N., Scamps, F., …Raoul, C. (2022). Differential effect of Fas activation on spinal muscular atrophy motoneuron death and induction of axonal growth

Amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA) are the most common motoneuron diseases affecting adults and infants, respectively. ALS and SMA are both characterized by the selective degeneration of motoneurons. Although differ... Read More about Differential effect of Fas activation on spinal muscular atrophy motoneuron death and induction of axonal growth.