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Detering, NT, Zambon, A, Hensel, N, Kothary, R, Swoboda, K, Gillingwater, TH, Baranello, G and Bowerman, M ORCID: https://orcid.org/0000-0002-3579-6403 (2022) 264th ENMC International Workshop: Multi-system involvement in spinal muscular atrophy Hoofddorp, the Netherlands, November 19th – 21st 2021. Neuromuscular Disorders.

Soltic, D, Shorrock, HK, Allardyce, H, Wilson, EL, Holt, I, Synowsky, SA, Shirran, SL, Parson, SH, Gillingwater, TH and Fuller, HR ORCID: https://orcid.org/0000-0001-8868-896X (2019) Lamin A/C dysregulation contributes to cardiac pathology in a mouse model of severe spinal muscular atrophy. Human Molecular Genetics, 28 (21). pp. 3515-3527.

Deguise, M-O, Baranello, G, Mastella, C, Beauvais, A, Michaud, J, Leone, A, De Amicis, R, Battezzati, A, Dunham, C, Selby, K, Chardon, J, McMillan, H, Huang, YT, Courtney, N, Mole, A, Kubinski, S, Claus, P, Murray, L, Bowerman, M ORCID: https://orcid.org/0000-0002-3579-6403, Gillingwater, TH, Bertoli, S, Parsons, S and Kothary, R (2019) Abnormal fatty acid metabolism is a core component of spinal muscular atrophy. Annals of Clinical and Translational Neurology, 6 (8). pp. 1519-1532.

Soltic, D, Bowerman, M ORCID: https://orcid.org/0000-0002-3579-6403, Stock, J, Shorrock, HK, Gillingwater, TH and Fuller, HR ORCID: https://orcid.org/0000-0001-8868-896X (2018) Multi-Study Proteomic and Bioinformatic Identification of Molecular Overlap between Amyotrophic Lateral Sclerosis (ALS) and Spinal Muscular Atrophy (SMA). Brain Sciences, 8 (12).

Bowerman, M, Walter, LM, Deguise, M-O, 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, TH, Claus, P, Kothary, R and Wood, MJA (2018) Interventions Targeting Glucocorticoid-Krüppel-like Factor 15-Branched-Chain Amino Acid Signaling Improve Disease Phenotypes in Spinal Muscular Atrophy Mice. EBioMedicine, 31. pp. 226-242.

Fuller, HR ORCID: https://orcid.org/0000-0001-8868-896X, Shorrock, HK, Gillingwater, TH, Pigott, A, Smith, V, Kulshrestha, R, Sewry, CS and Willis, TA (2017) Two cases of spinal muscular atrophy type II with eosinophilic oesophagitis. Journal of Neuromuscular Diseases, 4 (4). pp. 357-362.

Llavero Hurtado, M, Fuller, HR ORCID: https://orcid.org/0000-0001-8868-896X, Wong, AMS, Eaton, SL, Gillingwater, TH, Pennetta, G, Cooper, JD and Wishart, TM (2017) Proteomic mapping of differentially vulnerable pre-synaptic populations identifies regulators of neuronal stability in vivo. Scientific Reports (12412).

Bowerman, M, Becker, CG, Yáñez-Muñoz, RJ, Ning, K, Wood, MJA, Gillingwater, TH, Talbot, K and UK SMA Research Consortium, . (2017) Therapeutic strategies for spinal muscular atrophy: SMN and beyond. Disease Models and Mechanisms, 10 (8). 943 - 954.

Fuller, HR ORCID: https://orcid.org/0000-0001-8868-896X, Gillingwater, TH and Wishart, TM (2016) Commonality amid diversity: multi-study proteomic identification of conserved disease mechanisms in spinal muscular atrophy. Neuromuscular Disorders, 26 (9). pp. 560-569.

Wishart, TM, Mutsaers, CA, Riessland, M, Reimer, MM, Hunter, G, Hannam, ML, Eaton, SL, Fuller, HR ORCID: https://orcid.org/0000-0001-8868-896X, Roche, SL, Somers, E, Morse, R, Young, PJ, Lamont, DJ, Hammerschmidt, M, Joshi, A, Hohenstein, P, Morris, GE, Parson, SH, Skehel, PA, Becker, T, Robinson, IM, Becker, CG, Wirth, B and Gillingwater, TH (2014) Dysregulation of ubiquitin homeostasis and β-catenin signaling promote spinal muscular atrophy. Journal of Clinical Investigation, 124 (4). 1821 -1834.