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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 |
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2022 Other Outputs snrRNA-seq_muscle_datasetNgo, Shyuan, Power, Dominique, Andersen, Stacey, Taherian Fard, Atefeh, Chang, Jeryn and Steyn, Frederik (2022). snrRNA-seq_muscle_dataset. The University of Queensland. (Dataset) doi: 10.48610/0106c8e |
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2022 Book Chapter Biofluid biomarkers of amyotrophic lateral sclerosisHoldom, Cory J., Steyn, Frederik J., Henderson, Robert D., McCombe, Pamela A., Rogers, Mary-Louise and Ngo, Shyuan T. (2022). Biofluid biomarkers of amyotrophic lateral sclerosis. Neurodegenerative diseases biomarkers: towards translating research to clinical practice. (pp. 263-306) edited by Philip V. Peplow, Bridget Martinez and Thomas A. Gennarelli. New York, United States: Springer . doi: 10.1007/978-1-0716-1712-0_11 |
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2021 Journal Article 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 (2021). Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology. Nature Genetics, 53 (12), 1636-1648. doi: 10.1038/s41588-021-00973-1 |
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2021 Journal Article Venous creatinine as a biomarker for loss of fat‐free mass and disease progression in patients with Amyotrophic Lateral SclerosisHoldom, Cory J., Janse van Mantgem, Mark R., van Eijk, Ruben P.A., Howe, Stephanie L., van den Berg, Leonard H., McCombe, Pamela A., Henderson, Robert D., Ngo, Shyuan T. and Steyn, Frederik J. (2021). Venous creatinine as a biomarker for loss of fat‐free mass and disease progression in patients with Amyotrophic Lateral Sclerosis. European Journal of Neurology, 28 (11) ene.15003, 3615-3625. doi: 10.1111/ene.15003 |
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2021 Journal Article Low plasma hyaluronan is associated with faster functional decline in patients with amyotrophic lateral sclerosisHoldom, Cory J., Ngo, Shyuan T., McCombe, Pamela A., Henderson, Robert D. and Steyn, Frederik J. (2021). Low plasma hyaluronan is associated with faster functional decline in patients with amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 23 (1-2), 1-7. doi: 10.1080/21678421.2021.1918721 |
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2021 Journal Article A road map for remote digital health technology for motor neuron diseasevan Eijk, Ruben P A, Beelen, Anita, Kruitwagen, Esther T, Murray, Deirdre, Radakovic, Ratko, Hobson, Esther, Knox, Liam, Helleman, Jochem, Burke, Tom, Rubio Pérez, Miguel Ángel, Reviers, Evy, Genge, Angela, Steyn, Frederik J, Ngo, Shyuan, Eaglesham, John, Roes, Kit C B, van den Berg, Leonard H, Hardiman, Orla and McDermott, Christopher J (2021). A road map for remote digital health technology for motor neuron disease. Journal of Medical Internet Research, 23 (9) e28766, e28766. doi: 10.2196/28766 |
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2021 Journal Article Monocyte CD14 and HLA-DR expression increases with disease duration and severity in amyotrophic lateral sclerosisMcGill, R.B., Steyn, F.J., Ngo, S.T., Thorpe, K.A., Heggie, S., Henderson, R.D., Mccombe, P.A. and Woodruff, T.M. (2021). Monocyte CD14 and HLA-DR expression increases with disease duration and severity in amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 23 (5-6), 1-8. doi: 10.1080/21678421.2021.1964531 |
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2021 Journal Article Skeletal muscle metabolism: origin or prognostic factor for amyotrophic lateral sclerosis (ALS) development?Quessada, Cyril, Bouscary, Alexandra, René, Frédérique, Valle, Cristiana, Ferri, Alberto, Ngo, Shyuan T. and Loeffler, Jean-Philippe (2021). Skeletal muscle metabolism: origin or prognostic factor for amyotrophic lateral sclerosis (ALS) development?. Cells, 10 (6) 1449, 1449. doi: 10.3390/cells10061449 |
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2021 Journal Article Polygenic risk score analysis for amyotrophic lateral sclerosis leveraging cognitive performance, educational attainment and schizophreniaRestuadi, Restuadi, Garton, Fleur C., Benyamin, Beben, Lin, Tian, Williams, Kelly L., Vinkhuyzen, Anna, van Rheenen, Wouter, Zhu, Zhihong, Laing, Nigel G., Mather, Karen A., Sachdev, Perminder S., Ngo, Shyuan T., Steyn, Frederik J., Wallace, Leanne, Henders, Anjali K., Visscher, Peter M., Needham, Merrilee, Mathers, Susan, Nicholson, Garth, Rowe, Dominic B., Henderson, Robert D., McCombe, Pamela A., Pamphlett, Roger, Blair, Ian P., Wray, Naomi R. and McRae, Allan F. (2021). Polygenic risk score analysis for amyotrophic lateral sclerosis leveraging cognitive performance, educational attainment and schizophrenia. European Journal of Human Genetics, 30 (5), 1-8. doi: 10.1038/s41431-021-00885-y |
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2021 Journal Article Meta-analysis of genome-wide DNA methylation identifies shared associations across neurodegenerative disordersNabais, Marta F., Laws, Simon M., Lin, Tian, Vallerga, Costanza L., Armstrong, Nicola J., Blair, Ian P., Kwok, John B., Mather, Karen A., Mellick, George D., Sachdev, Perminder S., Wallace, Leanne, Henders, Anjali K., Zwamborn, Ramona A. J., Hop, Paul J., Lunnon, Katie, Pishva, Ehsan, Roubroeks, Janou A. Y., Soininen, Hilkka, Tsolaki, Magda, Mecocci, Patrizia, Lovestone, Simon, Kloszewska, Iwona, Vellas, Bruno, Furlong, Sarah, Garton, Fleur C., Henderson, Robert D., Mathers, Susan, McCombe, Pamela A., Needham, Merrilee ... McRae, Allan F. (2021). Meta-analysis of genome-wide DNA methylation identifies shared associations across neurodegenerative disorders. Genome Biology, 22 (1) 90, 1-30. doi: 10.1186/s13059-021-02275-5 |
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2021 Journal Article Lipids: Key players in central nervous system cell physiology and pathologyNgo, Shyuan T. (2021). Lipids: Key players in central nervous system cell physiology and pathology. Seminars in Cell and Developmental Biology, 112, 59-60. doi: 10.1016/j.semcdb.2021.02.003 |
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2021 Journal Article Ghrelin as a treatment for amyotrophic lateral sclerosisNgo, Shyuan T., Wang, Hao, Henderson, Robert D., Bowers, Cyril and Steyn, Frederik J. (2021). Ghrelin as a treatment for amyotrophic lateral sclerosis. Journal of Neuroendocrinology, 33 (7) e12938, 1-10. doi: 10.1111/jne.12938 |
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2021 Journal Article CNS glucose metabolism in amyotrophic lateral sclerosis: a therapeutic target?Tefera, Tesfaye Wolde, Steyn, Frederik J., Ngo, Shyuan T. and Borges, Karin (2021). CNS glucose metabolism in amyotrophic lateral sclerosis: a therapeutic target?. Cell & Bioscience, 11 (1) 14, 14. doi: 10.1186/s13578-020-00511-2 |
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2020 Journal Article Increased lipid metabolism impairs NK cell function and mediates adaptation to the lymphoma environmentKobayashi, Takumi, Lam, Pui Yeng, Jiang, Hui, Bednarska, Karolina, Gloury, Renee Elyse, Murigneux, Valentine, Tay, Joshua, Jacquelot, Nicolas, Li, Rui, Tuong, Zewen Kelvin, Leggatt, Graham, Gandhi, Maher K., Hill, Michelle M, Belz, Gabrielle T., Ngo, Shyuan, Kallies, Axel and Mattarollo, Stephen R. (2020). Increased lipid metabolism impairs NK cell function and mediates adaptation to the lymphoma environment. Blood, 136 (26), 3004-3017. doi: 10.1182/blood.2020005602 |
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2020 Journal Article Disorders of sleep and wakefulness in amyotrophic lateral sclerosis (ALS): a systematic reviewLucia, Diana, McCombe, Pamela A., Henderson, Robert D. and Ngo, Shyuan T. (2020). Disorders of sleep and wakefulness in amyotrophic lateral sclerosis (ALS): a systematic review. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 22 (3-4), 1-9. doi: 10.1080/21678421.2020.1844755 |
