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2024 Journal Article Generation of human induced pluripotent stem cell lines from sporadic, sporadic frontotemporal dementia, familial SOD1, and familial C9orf72 amyotrophic lateral sclerosis (ALS) patientsJiang, Leanne, Tracey, Timothy J., Gill, Melinder K., Howe, Stephanie L., Power, Dominique T., Bharti, Vanda, McCombe, Pamela A., Henderson, Robert D., Steyn, Frederik J. and Ngo, Shyuan T. (2024). Generation of human induced pluripotent stem cell lines from sporadic, sporadic frontotemporal dementia, familial SOD1, and familial C9orf72 amyotrophic lateral sclerosis (ALS) patients. Stem Cell Research, 78 103447, 103447. doi: 10.1016/j.scr.2024.103447 |
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2024 Journal Article Characterization of the skeletal muscle arginine methylome in health and disease reveals remodeling in amyotrophic lateral sclerosisWong, Julian P. H., Blazev, Ronnie, Ng, Yaan‐Kit, Goodman, Craig A., Montgomery, Magdalene K., Watt, Kevin I., Carl, Christian S., Watt, Matthew J., Voldstedlund, Christian T., Richter, Erik A., Crouch, Peter J., Steyn, Frederik J., Ngo, Shyuan T. and Parker, Benjamin L. (2024). Characterization of the skeletal muscle arginine methylome in health and disease reveals remodeling in amyotrophic lateral sclerosis. The FASEB Journal, 38 (10) e23647, e23647. doi: 10.1096/fj.202400045r |
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2024 Journal Article A transient protein folding response targets aggregation in the early phase of TDP-43-mediated neurodegenerationSan Gil, Rebecca, Pascovici, Dana, Venturato, Juliana, Brown-Wright, Heledd, Mehta, Prachi, Madrid San Martin, Lidia, Wu, Jemma, Luan, Wei, Chui, Yi Kit, Bademosi, Adekunle T., Swaminathan, Shilpa, Naidoo, Serey, Berning, Britt A., Wright, Amanda L., Keating, Sean S., Curtis, Maurice A., Faull, Richard L. M., Lee, John D., Ngo, Shyuan T., Lee, Albert, Morsch, Marco, Chung, Roger S., Scotter, Emma, Lisowski, Leszek, Mirzaei, Mehdi and Walker, Adam K. (2024). A transient protein folding response targets aggregation in the early phase of TDP-43-mediated neurodegeneration. Nature Communications, 15 (1) 1508, 1508. doi: 10.1038/s41467-024-45646-9 |
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2024 Journal Article Variation in resting metabolic rate affects identification of metabolic change in geographically distinct cohorts of patients with ALSHoldom, Cory J., Janse van Mantgem, Mark R., He, Ji, Howe, Stephanie L., McCombe, Pamela A., Fan, Dongsheng, van den Berg, Leonard H., Henderson, Robert D., van Eijk, Ruben, Steyn, Frederik J. and Ngo, Shyuan T. (2024). Variation in resting metabolic rate affects identification of metabolic change in geographically distinct cohorts of patients with ALS. Neurology, 102 (5) e208117, 1-11. doi: 10.1212/wnl.0000000000208117 |
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2024 Journal Article Associations of postprandial ghrelin, liver‐expressed antimicrobial peptide 2 and leptin levels with body composition, disease progression and survival in patients with amyotrophic lateral sclerosisHowe, Stephanie L., Holdom, Cory J., McCombe, Pamela A., Henderson, Robert D., Zigman, Jeffrey M., Ngo, Shyuan T. and Steyn, Frederik J. (2024). Associations of postprandial ghrelin, liver‐expressed antimicrobial peptide 2 and leptin levels with body composition, disease progression and survival in patients with amyotrophic lateral sclerosis. European Journal of Neurology, 31 (1) e16052, e16052. doi: 10.1111/ene.16052 |
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2023 Journal Article The arylamine N-acetyltransferases as therapeutic targets in metabolic diseases associated with mitochondrial dysfunctionChoudhury, Chandra, Gill, Melinder K., McAleese, Courtney E., Butcher, Neville J., Ngo, Shyuan T., Steyn, Frederik J. and Minchin, Rodney F. (2023). The arylamine N-acetyltransferases as therapeutic targets in metabolic diseases associated with mitochondrial dysfunction. Pharmacological Reviews, 76 (2), 300-320. doi: 10.1124/pharmrev.123.000835 |
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2023 Journal Article Skeletal muscle in amyotrophic lateral sclerosisShefner, Jeremy M., Musaro, Antonio, Ngo, Shyuan T., Lunetta, Christian, Steyn, Frederik J., Robitaille, Richard, De Carvalho, Mamede, Rutkove, Seward, Ludolph, Albert C. and Dupuis, Luc (2023). Skeletal muscle in amyotrophic lateral sclerosis. Brain, 146 (11), 4425-4436. doi: 10.1093/brain/awad202 |
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2023 Journal Article Generation of a human induced pluripotent stem cell line (UQi001-A-1) edited with the CRISPR-Cas9 system to carry the heterozygous TARDBP c.1144G>A (p.A382T) missense mutationTracey, Timothy J., Jiang, Leanne, Gill, Melinder K., Ranie, Samara N., Ovchinnikov, Dmitry A., Wolvetang, Ernst J. and Ngo, Shyuan T. (2023). Generation of a human induced pluripotent stem cell line (UQi001-A-1) edited with the CRISPR-Cas9 system to carry the heterozygous TARDBP c.1144G>A (p.A382T) missense mutation. Stem Cell Research, 70 103137, 1-6. doi: 10.1016/j.scr.2023.103137 |
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2023 Journal Article Nutritional and metabolic factors in amyotrophic lateral sclerosisLudolph, Albert, Dupuis, Luc, Kasarskis, Edward, Steyn, Frederik, Ngo, Shyuan and McDermott, Christopher (2023). Nutritional and metabolic factors in amyotrophic lateral sclerosis. Nature Reviews Neurology, 19 (9), 511-524. doi: 10.1038/s41582-023-00845-8 |
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2023 Journal Article Use of hip- versus wrist-based actigraphy for assessing functional decline and disease progression in patients with motor neuron diseaseHoldom, Cory J., van Unnik, Jordi W. J., van Eijk, Ruben P. A., van den Berg, Leonard H., Henderson, Robert D., Ngo, Shyuan T. and Steyn, Frederik J. (2023). Use of hip- versus wrist-based actigraphy for assessing functional decline and disease progression in patients with motor neuron disease. Journal of Neurology, 270 (5), 2597-2605. doi: 10.1007/s00415-023-11584-7 |
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2023 Journal Article Muscle and its neuromuscular synapse – players in the pathogenesis of motor neuron diseaseNoakes, Peter G., Phillips, William D., Jeffree, Rosalind L., Steyn, Frederik J., Wolvetang, Ernst J., Henderson, Rob D., McCombe, Pamela A. and Ngo, Shyuan T. (2023). Muscle and its neuromuscular synapse – players in the pathogenesis of motor neuron disease. Journal of Experimental Neurology, 4 (1), 1-5. doi: 10.33696/neurol.4.067 |
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2022 Journal Article Lower hypothalamic volume with lower BMI is associated with shorter survival in patients with ALSChang, Jeryn, Shaw, Thomas B., Holdom, Cory J., McCombe, Pamela A., Henderson, Robert D., Fripp, Jurgen, Barth, Markus, Guo, Christine C., Ngo, Shyuan T. and Steyn, Frederik J. (2022). Lower hypothalamic volume with lower BMI is associated with shorter survival in patients with ALS. European Journal of Neurology, 30 (1), 57-68. doi: 10.1111/ene.15589 |
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2022 Journal Article Open-Source Hypothalamic-ForniX (OSHy-X) Atlases and Segmentation Tool for 3T and 7TChang, Jeryn, Steyn, Frederik, Ngo, Shyuan, Henderson, Robert, Guo, Christine, Bollmann, Steffen, Fripp, Jurgen, Barth, Markus and Shaw, Thomas (2022). Open-Source Hypothalamic-ForniX (OSHy-X) Atlases and Segmentation Tool for 3T and 7T. Journal of Open Source Software, 7 (76), 4368. doi: 10.21105/joss.04368 |
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2022 Journal Article Altered TDP-43 structure and function: key insights into aberrant RNA, mitochondrial, and cellular and systemic metabolism in amyotrophic lateral sclerosisJiang, Leanne and Ngo, Shyuan T. (2022). Altered TDP-43 structure and function: key insights into aberrant RNA, mitochondrial, and cellular and systemic metabolism in amyotrophic lateral sclerosis. Metabolites, 12 (8) 709, 1-29. doi: 10.3390/metabo12080709 |
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2022 Journal Article Patient perspectives on digital healthcare technology in care and clinical trials for motor neuron disease: an international surveyHelleman, Jochem, Johnson, Barbara, Holdom, Cory, Hobson, Esther, Murray, Deirdre, Steyn, Frederik J., Ngo, Shyuan T., Henders, Anjali, Lokeshappa, Madhura B., Visser-Meily, Johanna M. A., van den Berg, Leonard H., Hardiman, Orla, Beelen, Anita, McDermott, Chris and van Eijk, Ruben P. A. (2022). Patient perspectives on digital healthcare technology in care and clinical trials for motor neuron disease: an international survey. Journal of Neurology, 269 (11), 1-11. doi: 10.1007/s00415-022-11273-x |
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2022 Journal Article Impaired signaling for neuromuscular synaptic maintenance is a feature of Motor Neuron DiseaseDing, Qiao, Kesavan, Kaamini, Lee, Kah Meng, Wimberger, Elyse, Robertson, Thomas, Gill, Melinder, Power, Dominique, Chang, Jeryn, Fard, Atefeh T., Mar, Jessica C., Henderson, Robert D., Heggie, Susan, McCombe, Pamela A., Jeffree, Rosalind L., Colditz, Michael J., Hilliard, Massimo A., Ng, Dominic C. H., Steyn, Frederik J., Phillips, William D., Wolvetang, Ernst J., Ngo, Shyuan T. and Noakes, Peter G. (2022). Impaired signaling for neuromuscular synaptic maintenance is a feature of Motor Neuron Disease. Acta Neuropathologica Communications, 10 (1) 61, 61. doi: 10.1186/s40478-022-01360-5 |
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2022 Journal Article Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALSHop, Paul J., Zwamborn, Ramona A.J., Hannon, Eilis, Shireby, Gemma L., Nabais, Marta F., Walker, Emma M., van Rheenen, Wouter, van Vugt, Joke J.F.A., Dekker, Annelot M., Westeneng, Henk-Jan, Tazelaar, Gijs H.P., van Eijk, Kristel R., Moisse, Matthieu, Baird, Denis, Al Khleifat, Ahmad, Iacoangeli, Alfredo, Ticozzi, Nicola, Ratti, Antonia, Cooper-Knock, Jonathan, Morrison, Karen E., Shaw, Pamela J., Basak, A. Nazli, Chiò, Adriano, Calvo, Andrea, Moglia, Cristina, Canosa, Antonio, Brunetti, Maura, Grassano, Maurizio, Gotkine, Marc ... Brain MEND Consortium (2022). Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS. Science Translational Medicine, 14 (633) eabj0264, 1-15. doi: 10.1126/scitranslmed.abj0264 |
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2022 Journal Article Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biologyvan Rheenen, Wouter, van der Spek, Rick A. A., Bakker, Mark K., van Vugt, Joke J. F. A., Hop, Paul J., Zwamborn, Ramona A. J., de Klein, Niek, Westra, Harm-Jan, Bakker, Olivier B., Deelen, Patrick, Shireby, Gemma, Hannon, Eilis, Moisse, Matthieu, Baird, Denis, Restuadi, Restuadi, Dolzhenko, Egor, Dekker, Annelot M., Gawor, Klara, Westeneng, Henk-Jan, Tazelaar, Gijs H. P., van Eijk, Kristel R., Kooyman, Maarten, Byrne, Ross P., Doherty, Mark, Heverin, Mark, Al Khleifat, Ahmad, Iacoangeli, Alfredo, Shatunov, Aleksey, Ticozzi, Nicola ... SLAP Consortium (2022). Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology. Nature Genetics, 54 (3), 361-361. doi: 10.1038/s41588-022-01020-3 |
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2022 Journal Article Functional characterisation of the amyotrophic lateral sclerosis risk locus GPX3/TNIP1Restuadi, Restuadi, Steyn, Frederik J., Kabashi, Edor, Ngo, Shyuan T., Cheng, Fei-Fei, Nabais, Marta F., Thompson, Mike J., Qi, Ting, Wu, Yang, Henders, Anjali K., Wallace, Leanne, Bye, Chris R., Turner, Bradley J., Ziser, Laura, Mathers, Susan, McCombe, Pamela A., Needham, Merrilee, Schultz, David, Kiernan, Matthew C., van Rheenen, Wouter, van den Berg, Leonard H., Veldink, Jan H., Ophoff, Roel, Gusev, Alexander, Zaitlen, Noah, McRae, Allan F., Henderson, Robert D., Wray, Naomi R., Giacomotto, Jean and Garton, Fleur C. (2022). Functional characterisation of the amyotrophic lateral sclerosis risk locus GPX3/TNIP1. Genome Medicine, 14 (1) 7, 7. doi: 10.1186/s13073-021-01006-6 |
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2022 Journal Article Repurposing of Trimetazidine for amyotrophic lateral sclerosis: a study in SOD1 miceScaricamazza, Silvia, Salvatori, Illari, Amadio, Susanna, Nesci, Valentina, Torcinaro, Alessio, Giacovazzo, Giacomo, Primiano, Aniello, Gloriani, Michela, Candelise, Niccolò, Pieroni, Luisa, Loeffler, Jean-Philippe, Renè, Frederique, Quessada, Cyril, Tefera, Tesfaye W, Wang, Hao, Steyn, Frederik J, Ngo, Shyuan T, Dobrowolny, Gabriella, Lepore, Elisa, Urbani, Andrea, Musarò, Antonio, Volonté, Cinzia, Ferraro, Elisabetta, Coccurello, Roberto, Valle, Cristiana and Ferri, Alberto (2022). Repurposing of Trimetazidine for amyotrophic lateral sclerosis: a study in SOD1 mice. British Journal of Pharmacology, 179 (8), 1732-1752. doi: 10.1111/bph.15738 |
