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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) patients

Jiang, 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

Generation of human induced pluripotent stem cell lines from sporadic, sporadic frontotemporal dementia, familial SOD1, and familial C9orf72 amyotrophic lateral sclerosis (ALS) patients

2024

Journal Article

Characterization of the skeletal muscle arginine methylome in health and disease reveals remodeling in amyotrophic lateral sclerosis

Wong, 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

Characterization of the skeletal muscle arginine methylome in health and disease reveals remodeling in amyotrophic lateral sclerosis

2024

Journal Article

A transient protein folding response targets aggregation in the early phase of TDP-43-mediated neurodegeneration

San 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

A transient protein folding response targets aggregation in the early phase of TDP-43-mediated neurodegeneration

2024

Journal Article

Variation in resting metabolic rate affects identification of metabolic change in geographically distinct cohorts of patients with ALS

Holdom, 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

Variation in resting metabolic rate affects identification of metabolic change in geographically distinct cohorts of patients with ALS

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 sclerosis

Howe, 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

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

2023

Journal Article

The arylamine N-acetyltransferases as therapeutic targets in metabolic diseases associated with mitochondrial dysfunction

Choudhury, 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

The arylamine N-acetyltransferases as therapeutic targets in metabolic diseases associated with mitochondrial dysfunction

2023

Journal Article

Skeletal muscle in amyotrophic lateral sclerosis

Shefner, 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

Skeletal muscle in amyotrophic lateral sclerosis

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 mutation

Tracey, 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

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

2023

Journal Article

Nutritional and metabolic factors in amyotrophic lateral sclerosis

Ludolph, 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

Nutritional and metabolic factors in amyotrophic lateral sclerosis

2023

Journal Article

Use of hip- versus wrist-based actigraphy for assessing functional decline and disease progression in patients with motor neuron disease

Holdom, 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

Use of hip- versus wrist-based actigraphy for assessing functional decline and disease progression in patients with motor neuron disease

2023

Journal Article

Muscle and its neuromuscular synapse – players in the pathogenesis of motor neuron disease

Noakes, 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

Muscle and its neuromuscular synapse – players in the pathogenesis of motor neuron disease

2023

Other Outputs

Skeletal muscle and blood RNA-seq counts in motor neurone disease cases and controls

Anna Freydenzon, Allan F. McRaee, Shyuan Ngo, Naomi R. Wray, Leanne Wallace, Anjali K. Henders, Pamela A. McCombe, Robert D. Henderson and Frederik J. Steyn (2023). Skeletal muscle and blood RNA-seq counts in motor neurone disease cases and controls. The University of Queensland. (Dataset) doi: 10.48610/b722f1f

Skeletal muscle and blood RNA-seq counts in motor neurone disease cases and controls

2023

Book Chapter

Diet, disease severity, and energy expenditure in amyotrophic lateral sclerosis (ALS)

Castles, Zoe, Buckett, Lauren, Jiang, Leanne, Steyn, Frederik J. and Ngo, Shyuan T. (2023). Diet, disease severity, and energy expenditure in amyotrophic lateral sclerosis (ALS). Diet and nutrition in neurological disorders. (pp. 123-140) edited by Colin R. Martin, Vinood B. Patel and Victor R. Preedy. Amsterdam, Netherlands: Elsevier. doi: 10.1016/b978-0-323-89834-8.00007-6

Diet, disease severity, and energy expenditure in amyotrophic lateral sclerosis (ALS)

2023

Conference Publication

Open-Source Hypothalamic-ForniX (OSHy-X) Atlases and Segmentation Tool for 3T and 7T

Chang, Jeryn, Steyn, Frederik, Ngo, Shyuan, Henderson, Robert, Guo, Christine, Bollmann, Steffen, Fripp, Jurgen, Barth, Markus and Shaw, Thomas (2023). Open-Source Hypothalamic-ForniX (OSHy-X) Atlases and Segmentation Tool for 3T and 7T. Joint Annual Meeting ISMRM-ESMRMB & ISMRT 31st Annual Meeting, London, United Kingdom, 7-12 May 2022. Concord, CA United States: International Society for Magnetic Resonance in Medicine. doi: 10.58530/2022/3808

Open-Source Hypothalamic-ForniX (OSHy-X) Atlases and Segmentation Tool for 3T and 7T

2022

Journal Article

Lower hypothalamic volume with lower BMI is associated with shorter survival in patients with ALS

Chang, 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

Lower hypothalamic volume with lower BMI is associated with shorter survival in patients with ALS

2022

Journal Article

Open-Source Hypothalamic-ForniX (OSHy-X) Atlases and Segmentation Tool for 3T and 7T

Chang, 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

Open-Source Hypothalamic-ForniX (OSHy-X) Atlases and Segmentation Tool for 3T and 7T

2022

Journal Article

Altered TDP-43 structure and function: key insights into aberrant RNA, mitochondrial, and cellular and systemic metabolism in amyotrophic lateral sclerosis

Jiang, 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

Altered TDP-43 structure and function: key insights into aberrant RNA, mitochondrial, and cellular and systemic metabolism in amyotrophic lateral sclerosis

2022

Journal Article

Patient perspectives on digital healthcare technology in care and clinical trials for motor neuron disease: an international survey

Helleman, 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

Patient perspectives on digital healthcare technology in care and clinical trials for motor neuron disease: an international survey

2022

Journal Article

Impaired signaling for neuromuscular synaptic maintenance is a feature of Motor Neuron Disease

Ding, 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

Impaired signaling for neuromuscular synaptic maintenance is a feature of Motor Neuron Disease

2022

Journal Article

Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS

Hop, 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

Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS