Research Articles

1. Sutton ER, McCallion E, Hoolachan JM, Cetin O, Pacheco-Torres P, Rashid S, Bouhmidi S, Haynes K, Churchill L, Scaife T, Chaytow H, Huang YT, Duguez S, Schneider BL, Gillingwater TH, Dimitriadi, M, Bowerman M. Mifepristone alone and in combination with scAAV9-SMN1 gene therapy improves disease phenotypes in Smn2B/- spinal muscular atrophy mice. Sci Rep 15, 40225 (2025). https://doi.org/10.1038/s41598-025-24050-3

2. Hazell G, McCallion, E, Ahlskog N, Sutton ER, Okoh M, Shaqoura EIH, Hoolachan JM, Scaife T, Iqbal S, Bhomra A, Kordala AJ, Scamps F, Raoul C, Wood MJA, Bowerman M. Exercise, disease state and sex influence the beneficial effects of Fn14-depletion on survival and muscle pathology in the SOD1G93A amyotrophic lateral sclerosis (ALS) mouse model. Skeletal Muscle 14, 23 (2024). https://doi.org/10.1186/s13395-024-00356-0

3. Short E., International Consortium for the Classification of Ageing-Related Pathologies (ICCARP)., Calimport S. et al. Defining an ageing-related pathology, disease or syndrome: International Consensus Statement. GeroScience (2024). https://doi.org/10.1007/s11357-024-01315-9

4. Hoolachan JM, McCallion E, Sutton ER, Çetin Ö, Pacheco-Torres P, Dimitriadi M, Okoh M, Walter LM, Claus P, Wood MJA, Tonge DP, Bowerman M. A transcriptomics-based drug repositioning approach to identify drugs with similar activities for the treatment of muscle pathologies in spinal muscular atrophy (SMA) models. Hum Mol Gen. 2024. 33 (5), 400–425. https://doi.org/10.1093/hmg/ddad192

5. Benlefki S, Younes R, Challuau D, Bernard-Marissal N, Hilaire C, Scamps F, Bowerman M, Kothary R, Schneider BL, Raoul C. Differential effect of Fas activation on spinal muscular atrophy motoneuron death and induction of axonal growth. Cell Mol Biol (Noisy-le-grand). 2023 Oct 31;69(10):1-8. doi: 10.14715/cmb/2023.69.10.1. PMID: 37953591.

6. Selvakumaran J, Ursu S, Bowerman M, Lu-Nguyen N, Wood MJ, Malerba A, Yáñez-Muñoz RJ. An induced pluripotent stem cell-derived human blood-brain barrier (BBB) model to test gene therapies for neuromuscular diseases. Biomedicines. 2023, 11(10), 2700.

7. Brown SJ, Šoltić D, Synowsky SA, Shirran SL, Chilcott E, Shorrock HK, Gillingwater TH, Yáñez-Muñoz RJ, Schneider B, Bowerman M, Fuller HR. AAV9-mediated SMN gene therapy rescues cardiac desmin but not lamin A/C and elastin dysregulation in Smn2B/- spinal muscular atrophy mice. Hum Mol Genet. 2023. doi: 10.1093/hmg/ddad121

8. Nafchi NAM, Chilcott EM, Brown S, Fuller HR, Bowerman M, Yáñez-Muñoz RJ. Enhanced expression of the human Survival motor neuron 1 gene from a codon-optimised transgene in vitro and in vivo. Gene Ther. 2023. https://doi.org/10.1038/s41434-023-00406-0

9. O’Connor G, Edel L, Raquq S, Bowerman M, Szmurlo A, Simpson Z, Hardy I, Fewtrell M, Baranello G G. 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. Nutr Clin Pract. 2022; 1- 10. doi:10.1002/ncp.10940.

10. Meijboom KE, Sutton ER, McCallion E, McFall E, Anthony D, Edwards B, Kubinski S, Tapken I, Bünermann I, Hazell G, Ahlskog N, Claus P, Davies KE, Kothary R, Wood MJA, Bowerman M. Dysregulation of Tweak and Fn14 in skeletal muscle of spinal muscular atrophy mice. Skelet Muscle. 2022; 12 (18).

11. Guiding Principles for ALS Drug Discovery and Development Concensus Workshop. https://md.catapult.org.uk/wp-content/uploads/2023/12/Guiding-Principles-for-ALS-Drug-Discovery-and-Development-Report.pdf

12. Detering NT, Zambon A, Hensel N, Kothary R, Swoboda K, Gillingwater TH, Baranello G, on behalf of ENMC 264th workshop study group. 264th ENMC International Workshop: Multi-system involvement in spinal muscular atrophy Hoofddorp, the Netherlands, November 19th – 21st 2021. Neuromuscul Disord. 2022; 32(8):697-705.

13. Betts CA , Jagannath A, van Westering TLE, Bowerman M, Banerjee S, Meng J, Falzarano MS, Cravo L , McClorey G, Meijboom KE, Bhomra A, Lim WF , Rinaldi C, Counsell JR, Chwalenia K, O’Donovan E, Saleh AF, Gait MJ, Morgan JE, Ferlini A, Foster RG, Wood MJA. Dystrophin involvement in peripheral circadian SRF signalling. Life Sci Alliance. 2021; 4 (10) e202101014.

14. Meijboom KE, Volpato V, Mozon-Sandoval J, Hoolachan JM, Hammond SM, Abendroth F, de Jong OG, Hazell G, Ahlskog N, Wood MJA, Webber C, Bowerman M. Combining multiomics and drug perturbation profiles to identify muscle-specific treatments for spinal muscular atrophy. JCI Insight. 2021; 6(13):e149446.

15. Winkelsas AM, Grunseich C, Harmison GC, Chwalenia K, Rinaldi, Hammond SM, Johnson K, Bowerman M, Arya S, Talbot K, Wood MJA, Fischbeck KH. Targeting the 5’ untranslated region of SMN2 as a therapeutic strategy for spinal muscular atrophy. Mol Ther:Nucleic Acid. 2021; 23, 731-742.

16. Rademacher S, Detering NT, Schüning T, Lindner R, Santonicola P, Wefel I-M, Dehus J, Walter LM, Brinkmann H, Niewienda A, Janek K, Varela MA, Bowerman M, Schiavi ED, Claus P. A single amino acid residue regulates PTEN-binding and stability of the Spinal Muscular Atrophy protein SMN. 2020. Cells. 9(11), 2405.

17. Ahlskog N, Hayler D, Krueger A, Kubinski S, Claus P, Hammond SH, Wood MJA, Yáñez-Muñoz RJ, Bowerman M. Muscle overexpression of Klf15 via an AAV8-Spc5-12 construct does not provide benefits in spinal muscular atrophy mice. 2020. Gene Therapy. doi: 10.1038/s41434-020-0146-8. 

18. Benlefki S, Sanchez-Vicente A, Milla V, Lucas O, Soulard C, Younes R, Gergely C, Bowerman M, Raoul C, Scamps F, Hilaire C. Expression of ALS-linked SOD1 mutation in motoneurons or myotubes induces differential effects on neuromuscular function in vitro. Neuroscience. 2020. doi: https://doi.org/10.1016/j.neuroscience.2020.03.044.

19. Deguise M-O, Baranello G, Mastella C, Beauvais A, Michaud J, Leone A, De Amicis R, Battezzati A, Dunham C, Selby K, Warman Chardon J, McMillan HJ, Huang Y-T, Courtney NL, Mole AJ, Kubinski S, Claus P, Murray LM, Bowerman M, Gillingwater TH, Bertoli S, Parson SH, Kothary R. Abnormal fatty acid metabolism is a core component of spinal muscular atrophy. Ann Clin Transl Neurol. 2019; 6 (8):1519-1532.

20. Soltic D, Bowerman M, Stock J, Shorrock HK, Gillingwater TH, Fuller HR. Multi-Study Proteomic and Bioinformatic Identification of Molecular Overlap between Amyotrophic Lateral Sclerosis (ALS) and Spinal Muscular Atrophy (SMA). Brain Sci. 2018; 8, 212.

21. Walter LM, Koch CA, Betts CA, Ahlskog N, Meijboom KE, van Westering TLE, Hazell G, Bhomra A, Claus P, Oster H Wood MJA, Bowerman M. Light modulation ameliorates expression of circadian genes and disease progression in spinal muscular atrophy mice. Hum Mol Genet. 2018. 2018; 27 (20): 3582-3597.

22. Walter LM, Deguise MO, Meijboom KE, Betts CA, Ahlskog N, van Westering TLE, Hazell G, McFall E, Kordala A, Hammond SM, Abendroth F, Murray LM, Shorrock HK, Prosdocimo DA, Haldar SM, Jain MK, Gillingwater TG, Claus P, Kothary R, Wood MJA, Bowerman M. Interventions targeting glucocorticoid-Krüppel-like factor 15-branched-chain amino acid signaling improve disease phenotypes in spinal muscular atrophy mice. EBioMedicine. 2018; 31: 226-242.

23. Bowerman M, Salsac C, Bernard V, Dionne A, Coque E, Benlefki S, Hince P, Dion PA, Butler-Browne G, Camu W, Bouchard JP, Delpire E, Rouleau GA, Raoul C, Scamps F. KCC3 loss-of-function contributes to Andermann syndrome by inducing activity-dependent neuromuscular junction defects. Neurobiol Dis. 2017; 106: 35-48.

24. Hammond SM, Hazell G, Shabanpoor F, Saleh AF, Bowerman M, Sleigh JN, Meijboom K, Zhou H, Muntoni F, Talbot K, Gait M, Wood MJA. Systemic peptide-mediated oligonucleotide therapy improves long-term survival in spinal muscular atrophy. PNAS. 2016; 113 (39): 10962-10967.

25. Rousset M, Cens T, Menard C, Bowerman M, Bellis M, Brusés J, Raoul C, Scamps F, Charnet P. Regulation of neuronal high-voltage activated CaV2 Ca2+ channels by the small GTPase RhoA. Neuropharmacology. 2015; 97: 201-209.

26. Bowerman M, Salsac C, Coque E, Eiselt E, Deschaumes RG, Brodovitch A, Burkly LC, Scamps F, Raoul C. Tweak regulates astrogliosis, microgliosis and skeletal muscle atrophy in a mouse model of amyotrophic lateral sclerosis. Hum Mol Genet. 2015; 24 (12): 3440-3456.

27. Scamps F, Sangari S, Bowerman M, Rousset M, Bellis M, Cens T, Charnet P. Nerve injury induces a Gem-GTPase-dependent downregulationof P/Q-type Ca2+ channels contributing to neurite plasticity in dorsal root ganglion neurons. Pflügers Archiv. 2015; 467 (2): 351-366.

28. Otsmane B, Moumen A, Aebischer J, Coque E, Sar C, Sunyach C, Salsac C, Valmier J, Salinas S, Bowerman M, Raoul C. Somatic and axonal LIGHT signaling elicit degenerative and regenerative responses in motoneurons, respectively. EMBO Rep. 2014; 15(5): 540-7.

29. Bowerman M, Michalski JP, Beauvais A, Murray LM, DeRepentigny Y, Kothary R. Defects in pancreatic development and glucose metabolism in Smn-depleted mice independent of canonical Spinal Muscular Atrophy neuromuscular pathology. Hum Mol Genet. 2014; 23 (13): 3432-44.

30. Bowerman M, Swoboda KJ, Michalski JP, Wang GS, Reeks C, Beauvais A, Murphy K, Woulfe J, Screaton RA, Scott FW, Kothary R. Glucose metabolism and pancreatic defects in spinal muscular atrophy. Annal Neurol. 2012; 72 (2): 256-268.

31. Bowerman M, Murray LM, Boyer JG, Anderson CL, Kothary R. Fasudil improves survival and promotes skeletal muscle development in a mouse model of spinal muscular atrophy. BMC Med. 2012; 10 (24).

32. Bowerman M, Murray LM, Beauvais A, Pinheiro B, Kothary R. A critical Smn threshold in mice dictates onset of an intermediate Spinal Muscular Atrophy phenotype associated with a distinct neuromuscular junction pathology. Neuromus Dis. 2012; 22(3): 263-276.

33. Bowerman M, Beauvais A, Anderson CL, Kothary R. Rho-kinase inactivation prolongs survival of an intermediate SMA mouse model. Hum Mol Genet. 2010; 19(8): 1468-1478.

34. Bowerman M, Anderson CL, Beauvais A, Boyl PP, Witke W, Kothary R. SMN, profilin IIa and plastin 3: a link between the deregulation of actin dynamics and SMA pathogenesis. Mol Cell Neurosci. 2009; 42(1): 66-74.

35. Mattis VB, Bowerman M, Kothary R, Lorson CL. A SMNDelta7 read-through product confers functionality to the SMNDelta7 protein. Neurosci Lett. 2008 Sep 5; 442(1): 54-58.

36. Bowerman M, Shafey D, Kothary R. Smn depletion alters profilin II expression and leads to the upregulation of the RhoA/ROCK pathway and defects in neuronal integrity. J Mol Neurosci. 2007; 32(2): 120-131.

Reviews

1. Watson KS, Boukhloufi I, Bowerman M, Parson SH. The relationship between body composition, fatty acid metabolism and diet in spinal muscular atrophy. Brain Sci. 2021; 11(2), 131.

2. Hoolachan JM, Sutton ER, Bowerman M. Teaching an old drug new tricks: Repositioning strategies for spinal muscular atrophy. Future Neurol. 2019. 14(3).

3. Bowerman M, Murray LM, Scamps F, Schneider B, Kothary R, Raoul C. Pathogenic commonalities between spinal muscular atrophy and amyotrophic lateral sclerosis: Converging roads to therapeutic development. Eur J Med Genet. 2018; 61: 685-698.

4. Wood MJA, Talbot K, Bowerman M. Spinal muscular atrophy: antisense oligonucleotide therapy opens the door to an integrated therapeutic landscape. Hum Mol Genet. Oct 2017; 26(R2): R151-R159.

5. Bowerman M, Becker CG, Yáñez-Muñoz RJ, Ning K, Wood MJA, Gillingwater TH, Talbot K. Therapeutic strategies for spinal muscular atrophy: SMN and beyond. Dis Model Mech. 2017; 10(8): 943-954.

6. Coque E, Raoul C, Bowerman M. ROCK inhibition as a therapy for spinal muscular atrophy: understanding the repercussions on multiple cellular targets. Front Neurosci. 2014; 8 (271).

7. Bowerman M, Vincent T, Scamps F, Perrin FE, Camu W, Raoul C. Neuroimmunity dynamics and the development of therapeutic strategies for amyotrophic lateral sclerosis. Front Cell Neurosci. 2013; 7 (214).

8. Boyer J, Bowerman M, Kothary R. The many faces of SMN: deciphering the function critical to Spinal Muscular Atrophy Pathogenesis. Future Neuro. 2010; 5(6): 873-890.

9. Bowerman M, Vincent T, Scamps F, Perrin FE, Camu W, Raoul C. Neuroimmunity dynamics and the development of therapeutic strategies for amyotrophic lateral sclerosis. Front Cell Neurosci. 2013; 7 (214).

Editorials

1. Bowerman M. Recent Advances and Future Perspectives in the Development of Therapeutic Approaches for Neurodegenerative Diseases. Brain Sci. 2020; 10 (9), 633.

2. Bowerman M. Funding for spinal muscular atrophy research must continue. Future Neuro. 2019. 14(2).

Book Chapters

1. Bowerman M, Vincent T, Scamps F, Camu W, Raoul C. The Neuroinflammation in the Pathophysiology of Amyotrophic Lateral Sclerosis. In: A.G. Estevez (ed.) Current Advances in Amyotrophic Lateral Sclerosis. InTech. September 2013. 97-140.