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2025

Journal Article

Deciphering hypothalamic pathology in ALS: insights into non-motor symptoms and disease progression

Chang, Jeryn, Teo, Annissa H., Shaw, Thomas B., Dupuis, Luc, Ngo, Shyuan T. and Steyn, Frederik J. (2025). Deciphering hypothalamic pathology in ALS: insights into non-motor symptoms and disease progression. eBioMedicine, 118 105845. doi: 10.1016/j.ebiom.2025.105845

Deciphering hypothalamic pathology in ALS: insights into non-motor symptoms and disease progression

2025

Journal Article

Lower-limb biomechanics in motor neuron disease: a joint-level perspective of gait disruption

Holdom, Cory J., Williamson, James L., O’Reilly, Georgia, Henderson, Robert D., Neville, Sally, Ngo, Shyuan T., Dick, Taylor J. M. and Steyn, Frederik J. (2025). Lower-limb biomechanics in motor neuron disease: a joint-level perspective of gait disruption. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 1-11. doi: 10.1080/21678421.2025.2523945

Lower-limb biomechanics in motor neuron disease: a joint-level perspective of gait disruption

2025

Journal Article

Identification of passive wrist-worn accelerometry outcomes for improved disease monitoring and trial design in motor neuron disease

Holdom, Cory J., Pilkar, Rakesh, Guo, Christine C., Eijk, Ruben P.A van, Sethi, Nadia, Henderson, Robert D., Ngo, Shyuan T. and Steyn, Frederik J. (2025). Identification of passive wrist-worn accelerometry outcomes for improved disease monitoring and trial design in motor neuron disease. eBioMedicine, 117 105779, 105779-117. doi: 10.1016/j.ebiom.2025.105779

Identification of passive wrist-worn accelerometry outcomes for improved disease monitoring and trial design in motor neuron disease

2025

Journal Article

Assessment of the “MND-Prism” smartphone application as a tool for self-management

Neville, Sally, Ziser, Laura, Henders, Anjali, Milne, Jane, Ngo, Shyuan T., Packer, Rebecca and Steyn, Frederik J. (2025). Assessment of the “MND-Prism” smartphone application as a tool for self-management. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, ahead-of-print (ahead-of-print), 1-10. doi: 10.1080/21678421.2025.2511119

Assessment of the “MND-Prism” smartphone application as a tool for self-management

2025

Journal Article

An annotated multi-site and multi-contrast magnetic resonance imaging dataset for the study of the human tongue musculature

Ribeiro, Fernanda L., Zhu, Xiangyun, Ye, Xincheng, Tu, Sicong, Ngo, Shyuan T., Henderson, Robert D., Steyn, Frederik J., Kiernan, Matthew C., Barth, Markus, Bollmann, Steffen and Shaw, Thomas B. (2025). An annotated multi-site and multi-contrast magnetic resonance imaging dataset for the study of the human tongue musculature. Scientific Data, 12 (1) 790, 790. doi: 10.1038/s41597-025-05092-8

An annotated multi-site and multi-contrast magnetic resonance imaging dataset for the study of the human tongue musculature

2025

Journal Article

Site-specific quantification of the in vivo UFMylome reveals myosin modification in ALS

Blazev, Ronnie, Zee, Barry M., Peckham, Hayley, Ng, Yaan-Kit, Lewis, Christopher T.A., Zhang, Chengxin, McNamara, James W., Goodman, Craig A., Gregorevic, Paul, Ochala, Julien, Steyn, Frederik J., Ngo, Shyuan T., Stokes, Matthew P. and Parker, Benjamin L. (2025). Site-specific quantification of the in vivo UFMylome reveals myosin modification in ALS. Cell Reports Methods, 5 (5) 101048, 101048-5. doi: 10.1016/j.crmeth.2025.101048

Site-specific quantification of the in vivo UFMylome reveals myosin modification in ALS

2025

Journal Article

An fMRI dataset for appetite neural correlates in people living with Motor Neuron Disease

Chang, Jeryn, Lv, JingLei, Guo, Christine C., Lucia, Diana, Bollmann, Saskia, Garner, Kelly, McCombe, Pamela A., Henderson, Robert D., Shaw, Thomas B., Steyn, Frederik J. and Ngo, Shyuan T. (2025). An fMRI dataset for appetite neural correlates in people living with Motor Neuron Disease. Scientific Data, 12 (1) 466, 466. doi: 10.1038/s41597-025-04828-w

An fMRI dataset for appetite neural correlates in people living with Motor Neuron Disease

2025

Journal Article

Appetite loss in patients with motor neuron disease: impact on weight loss and neural correlates of visual food cues

Chang, Jeryn, Shaw, Thomas B., McCombe, Pamela A., Henderson, Robert D., Lucia, Diana, Guo, Christine C., Lv, Jinglei, Garner, Kelly, Bollmann, Saskia, Ngo, Shyuan T. and Steyn, Frederik J. (2025). Appetite loss in patients with motor neuron disease: impact on weight loss and neural correlates of visual food cues. Brain Communications, 7 (2) fcaf111, 1-14. doi: 10.1093/braincomms/fcaf111

Appetite loss in patients with motor neuron disease: impact on weight loss and neural correlates of visual food cues

2025

Journal Article

Persistent high levels of perceived fatigue are not associated with hypermetabolism in patients with amyotrophic lateral sclerosis

Buckett, Lauren E., Holdom, Cory J., Howe, Stephanie L., McCombe, Pamela A., Henderson, Robert D., Al-Chalabi, Ammar, Steyn, Frederik J. and Ngo, Shyuan T. (2025). Persistent high levels of perceived fatigue are not associated with hypermetabolism in patients with amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, ahead-of-print (ahead-of-print), 1-10. doi: 10.1080/21678421.2025.2471429

Persistent high levels of perceived fatigue are not associated with hypermetabolism in patients with amyotrophic lateral sclerosis

2025

Journal Article

An open-label phase 2a study to assess the safety and tolerability of trimetazidine in patients with amyotrophic lateral sclerosis

van Eijk, Ruben P. A., Steyn, Frederik J., Janse van Mantgem, Mark R., Schmidt, Angela, Meyjes, Myrte, Allen, Sally, Daygon, Dara V., Loeffler, Jean-Philippe, Al-Chalabi, Ammar, van den Berg, Leonard H., Henderson, Robert D. and Ngo, Shyuan T. (2025). An open-label phase 2a study to assess the safety and tolerability of trimetazidine in patients with amyotrophic lateral sclerosis. Brain Communications, 7 (1) fcaf063, fcaf063-1. doi: 10.1093/braincomms/fcaf063

An open-label phase 2a study to assess the safety and tolerability of trimetazidine in patients with amyotrophic lateral sclerosis

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, 1-6. 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, 1-19. 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

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. (2024). 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

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

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