Group by: Item Type | No Grouping
Jump to: Article
Number of items: 27.

Article

Nafchi, NAM, Chilcott, EM, Owen, SJ ORCID: https://orcid.org/0000-0001-9671-7054, Fuller, HR ORCID: https://orcid.org/0000-0001-8868-896X, Bowerman, M ORCID: https://orcid.org/0000-0002-3579-6403 and Yáñez-Muñoz, RJ (2023) Enhanced expression of the human Survival motor neuron 1 gene from a sequence-optimised cDNA transgene in vitro and in vivo. Gene Therapy (Basingstoke). (In Press)

Benlefki, S, Younes, R, Challuau, D, Bernard-Marissal, N, Hilaire, C, Scamps, F, Bowerman, M ORCID: https://orcid.org/0000-0002-3579-6403, Kothary, R, Schneider, B and Raoul, C (2023) Differential effect of Fas activation on spinal muscular atrophy motoneuron death and induction of axonal growth: Dual signaling of Fas in motoneurons. Cellular and Molecular Biology. (In Press)

O'Connor, G, Edel, L, Raquq, S, Bowerman, M ORCID: https://orcid.org/0000-0002-3579-6403, Szmurlo, A, Simpson, Z, Hardy, I, Fewtrell, M and Baranello, G (2022) An 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.

Shaqoura, E, McCallion, E, Fuller, HR ORCID: https://orcid.org/0000-0001-8868-896X and Bowerman, M ORCID: https://orcid.org/0000-0002-3579-6403 (2022) Differential expression of intermediate filament proteins: lamins A/C and desmin within and between adult skeletal muscles. Neuromuscular Disorders, 32. S109 - S109.

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 and Bowerman, M ORCID: https://orcid.org/0000-0002-3579-6403 (2022) Dysregulation of Tweak and Fn14 in skeletal muscle of spinal muscular atrophy mice. Skeletal Muscle, 12 (18). pp. 1-25.

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.

Betts, CA, Jagannath, A, van Westering, TLE, Bowerman, M ORCID: https://orcid.org/0000-0002-3579-6403, 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 and Wood, MJA (2021) Dystrophin involvement in peripheral circadian SRF signalling. Life Science Alliance, 4 (10). e202101014 - e202101014.

Meijboom, KE, Volpato, V, Monzón-Sandoval, J, Hoolachan, JM, Hammond, SM, Abendroth, F, de Jong, OG, Hazell, G, Ahlskog, N, Wood, MJA, Webber, C and Bowerman, M ORCID: https://orcid.org/0000-0002-3579-6403 (2021) Combining multi-omics and drug perturbation profiles to identify muscle-specific treatments for spinal muscular atrophy. JCI Insight, 6 (13). pp. 1-24.

Betts, C, Jagannath, A, van Westering, TLE, Bowerman, M ORCID: https://orcid.org/0000-0002-3579-6403, Banerjee, S, Meng, J, Falzarano, MS, Cravo, L, McClorey, G, Meijboom, K, Bhomra, A, Lim, WF, Rinaldi, C, Counsell, J, Chwalenia, K, O’Donovan, E, Saleh, A, Gait, M, Morgan, J, Ferlini, A, Foster, R and Wood, MJA (2021) Dystrophin regulates peripheral circadian SRF signalling. BioRxiv.

Watson, KS, Boukhloufi, I, Bowerman, M ORCID: https://orcid.org/0000-0002-3579-6403 and Parson, SH (2021) The relationship between body composition, fatty acid metabolism and diet in spinal muscular atrophy. Brain Sciences, 11 (2).

Winkelsas, AM, Grunseich, C, Harmison, GG, Chwalenia, K, Rinaldi, C, Hammond, SM, Johnson, K, Bowerman, M ORCID: https://orcid.org/0000-0002-3579-6403, Arya, S, Talbot, K, Wood, MJ and Fischbeck, KH (2021) Targeting the 5’ untranslated region of SMN2 as a therapeutic strategy for spinal muscular atrophy. Molecular Therapy: Nucleic Acids, 23. pp. 731-742.

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 ORCID: https://orcid.org/0000-0002-3579-6403, Di Schiavi, E and Claus, P (2020) A single amino acid residue regulates PTEN-binding and stability of the Spinal Muscular Atrophy protein SMN. Cells, 9 (11).

Bowerman, M ORCID: https://orcid.org/0000-0002-3579-6403 (2020) Recent advances and future perspectives in the development of therapeutic approaches for neurodegenerative diseases. Brain Sciences.

Benlefki, S, Sanchez-Vicente, A, Milla, V, Lucas, O, Soulard, C, Younes, R, Gergely, C, Bowerman, M ORCID: https://orcid.org/0000-0002-3579-6403, Raoul, C, Scamps, F and Hilaire, C (2020) Expression of ALS-linked SOD1 mutation in motoneurons or myotubes induces differential effects on neuromuscular function in vitro. Neuroscience, 435. pp. 33-43.

Ahlskog, N, Hayler, D, Krueger, A, Kubinski, S, Claus, P, Yáñez-Muñoz, R and Bowerman, M ORCID: https://orcid.org/0000-0002-3579-6403 (2020) Muscle overexpression of Klf15 via an AAV8-Spc5-12 construct does not provide benefits in spinal muscular atrophy mice. Gene Therapy.

Hoolachan, J, Sutton, E and Bowerman, M ORCID: https://orcid.org/0000-0002-3579-6403 (2019) Teaching an old drug new tricks: repositioning strategies for spinal muscular atrophy. Future Neurology, 14 (3).

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.

Ahlskog, N, Hayler, D, Krueger, A, Kubinski, S, Claus, P, Yáñez-Muñoz, R and Bowerman, M ORCID: https://orcid.org/0000-0002-3579-6403 (2019) Muscle overexpression of Klf15 via an AAV8-Spc5-12 construct does not provide benefits in spinal muscular atrophy mice. bioRxiv.

Bowerman, M ORCID: https://orcid.org/0000-0002-3579-6403 (2019) Funding for spinal muscular atrophy research must continue. Future Neurology, 14 (2).

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, Murray, LM, Scamps, F, Schneider, BL, Kothary, R and Raoul, C (2018) Pathogenic commonalities between spinal muscular atrophy and amyotrophic lateral sclerosis: converging roads to therapeutic development. European Journal of Medical Genetics, 61 (11). pp. 685-698.

Walter, LM, Koch, CE, Betts, CA, Ahlskog, N, Meijboom, KE, van Westering, TLE, Hazell, G, Bhomra, A, Claus, P, Oster, H, Wood, MJA and Bowerman, M ORCID: https://orcid.org/0000-0002-3579-6403 (2018) Light modulation ameliorates expression of circadian genes and disease progression in spinal muscular atrophy mice. Human Molecular Genetics, 27 (20). pp. 3582-3597.

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.

Bowerman, M, Salsac, C, Bernard, V, Soulard, C, Dionne, A, Coque, E, Benlefki, S, Hince, P, Dion, PA, Butler-Browne, G, Camu, W, Bouchard, J-P, Delpire, E, Rouleau, GA, Raoul, C and Scamps, F (2017) KCC3 loss-of-function contributes to Andermann syndrome by inducing activity-dependent neuromuscular junction defects. Neurobiology of Disease, 106. 35 - 48.

Wood, MJA, Talbot, K and Bowerman, M (2017) Spinal muscular atrophy: antisense oligonucleotide therapy opens the door to an integrated therapeutic landscape. Human Molecular Genetics, 26 (R2). R151 - R159.

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.

Hammond, SM, Hazell, G, Shabanpoor, F, Saleh, AF, Bowerman, M, Sleigh, JN, Meijboom, KE, Zhou, H, Muntoni, F, Talbot, K, Gait, MJ and Wood, MJA (2016) Systemic peptide-mediated oligonucleotide therapy improves long-term survival in spinal muscular atrophy. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 113 (39). 10962 - 10967.

This list was generated on Wed Nov 1 00:08:30 2023 UTC.