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2026

Journal Article

Review of the Pathology of Muscle in Amyotrophic Lateral Sclerosis

Katz, Matthew, Robertson, Thomas, Ngo, Shyuan T., Yarlagadda, Sai, Henderson, Robert D., McCombe, Pamela A. and Noakes, Peter G. (2026). Review of the Pathology of Muscle in Amyotrophic Lateral Sclerosis. International Journal of Molecular Sciences, 27 (6), 2802. doi: 10.3390/ijms27062802

Review of the Pathology of Muscle in Amyotrophic Lateral Sclerosis

2026

Journal Article

Treating age-related loss of muscle mass and function: Where should we be focusing?

Ham, Daniel J., Fry, Christopher S., Ruparelia, Avnika Ashok, Ngo, Shyuan T. and Lamon, Severine (2026). Treating age-related loss of muscle mass and function: Where should we be focusing?. Journal of Physiology-London JP289838. doi: 10.1113/JP289838

Treating age-related loss of muscle mass and function: Where should we be focusing?

2026

Journal Article

Blood Lactate as a Prognostic Biomarker for Survival and Weight Loss in Amyotrophic Lateral Sclerosis: An Exploratory–Validation Study

Nakamura, Ryutaro, Steyn, Frederik J., Kobashi, Shuhei, Ogawa, Nobuhiro, Kitamura, Akihiro, Yamakawa, Isamu, Henderson, Robert D., Ngo, Shyuan T. and Urushitani, Makoto (2026). Blood Lactate as a Prognostic Biomarker for Survival and Weight Loss in Amyotrophic Lateral Sclerosis: An Exploratory–Validation Study. Annals of Neurology ana.78184. doi: 10.1002/ana.78184

Blood Lactate as a Prognostic Biomarker for Survival and Weight Loss in Amyotrophic Lateral Sclerosis: An Exploratory–Validation Study

2026

Journal Article

Systemic immune-metabolic interactions in patients with amyotrophic lateral sclerosis: correlations of plasma cytokines with metabolic status

Howe, Stephanie L., Holdom, Cory J., McCombe, Pamela A., Henderson, Robert D., Steyn, Frederik J. and Ngo, Shyuan T. (2026). Systemic immune-metabolic interactions in patients with amyotrophic lateral sclerosis: correlations of plasma cytokines with metabolic status. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 1-11. doi: 10.1080/21678421.2026.2627902

Systemic immune-metabolic interactions in patients with amyotrophic lateral sclerosis: correlations of plasma cytokines with metabolic status

2026

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. (2026). Lower-limb biomechanics in motor neuron disease: a joint-level perspective of gait disruption. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 27 (1-2), 44-54. doi: 10.1080/21678421.2025.2523945

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

2025

Journal Article

BLOC1S1 depletion via splice-switching oligonucleotides improves mitochondrial respiration and rescues ALS phenotypes

Hor, Jin-Hui, Ow, Jin Rong, Ng, Winanto, Ramasamy, Boominathan, Tabaglio, Tommaso, Lim, Kimberly Ngee Hui, Bin Muzakar, Muhammad Ikhsan, Lim, Valerie Jing Wen, Gurrampati, Rajasekhar Reddy, Rajarethinam, Ravisankar, Ngo, Shyuan T., Ramadass, Venkataramanan, Lakshmanan, Manikandan, Ling, Shuo-Chien, Wee, Keng Boon and Ng, Shi-Yan (2025). BLOC1S1 depletion via splice-switching oligonucleotides improves mitochondrial respiration and rescues ALS phenotypes. Molecular Therapy, 34 (3), 1672-1683. doi: 10.1016/j.ymthe.2025.12.026

BLOC1S1 depletion via splice-switching oligonucleotides improves mitochondrial respiration and rescues ALS phenotypes

2025

Journal Article

Examining the impact and role of lipid classes on the risk of amyotrophic lateral sclerosis (ALS) onset: a systematic review and GRADE analysis of the evidence

Sewell-Green, Amber R., Kuiper, Merle, Holdom, Cory J., Beelen, Anita, Ngo, Shyuan T., Steyn, Frederik J. and Matthews-Rensch, Kylie L. (2025). Examining the impact and role of lipid classes on the risk of amyotrophic lateral sclerosis (ALS) onset: a systematic review and GRADE analysis of the evidence. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 1-13. doi: 10.1080/21678421.2025.2574685

Examining the impact and role of lipid classes on the risk of amyotrophic lateral sclerosis (ALS) onset: a systematic review and GRADE analysis of the evidence

2025

Journal Article

Long-term fixation impact on archived human nervous tissues for sequencing-based transcriptomics

Howe, Stephanie, McCann, Heather, Xiong, Zherui, Nguyen, Quan, Steyn, Frederik J., Ngo, Shyuan T. and Chang, Jeryn (2025). Long-term fixation impact on archived human nervous tissues for sequencing-based transcriptomics. Brain Communications, 7 (6) fcaf428, fcaf428. doi: 10.1093/braincomms/fcaf428

Long-term fixation impact on archived human nervous tissues for sequencing-based transcriptomics

2025

Journal Article

Epigenetic profiles of tissue informative CpGs inform ALS disease status and progression

Caggiano, Christa, Morselli, Marco, Qian, Xiaoyu, Celona, Barbara, Thompson, Michael J., Wani, Shivangi, Tosevska, Anela, Taraszka, Kodi, Heuer, Galen, Ngo, Shyuan T., Steyn, Frederick J., Nestor, Peter J., Wallace, Leanne, Mccombe, Pamela, Heggie, Susan, Thorpe, Kathryn, Mcelligott, Caitlin, English, Gemyka, Henders, Anjali, Henderson, Robert, Lomen-Hoerth, Catherine, Wray, Naomi R., Mcrae, Allan F., Pellegrini, Matteo, Garton, Fleur C. and Zaitlen, Noah (2025). Epigenetic profiles of tissue informative CpGs inform ALS disease status and progression. Genome Medicine, 17 (1) 115, 1-20. doi: 10.1186/s13073-025-01542-5

Epigenetic profiles of tissue informative CpGs inform ALS disease status and progression

2025

Journal Article

Segmentation of the human tongue musculature using MRI: Field guide and validation in motor neuron disease

Shaw, Thomas B., Ribeiro, Fernanda L., Zhu, Xiangyun, Aiken, Patrick, Bollmann, Saskia, Bollmann, Steffen, Chang, Jeryn, Chidley, Kali, Dempsey-Jones, Harriet, Eftekhari, Zeinab, Gillespie, Jennifer, Henderson, Robert D., Kiernan, Matthew C., Ktena, Ira, McCombe, Pamela A., Ngo, Shyuan T., Taubert, Shana T., Whelan, Brooke-Mai, Ye, Xincheng, Steyn, Frederik J., Tu, Sicong and Barth, Markus (2025). Segmentation of the human tongue musculature using MRI: Field guide and validation in motor neuron disease. Computers in Biology and Medicine, 196 (Part B) 110824, 1-13. doi: 10.1016/j.compbiomed.2025.110824

Segmentation of the human tongue musculature using MRI: Field guide and validation in motor neuron disease

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, 1-13. doi: 10.1016/j.ebiom.2025.105845

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

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, 1-14. 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, 1-10. doi: 10.1080/21678421.2025.2511119

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

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. doi: 10.1016/j.crmeth.2025.101048

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

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

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, 1-8. 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, 26 (5-6), 485-494. 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