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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 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 A longitudinal descriptive assessment of US college COVID-19 dashboardsJones, Katerina A., Steyn, Frank D. and Wallace, Lorraine S (2022). A longitudinal descriptive assessment of US college COVID-19 dashboards. Journal of American College Health, 72 (3), 1-7. doi: 10.1080/07448481.2022.2061861 |
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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 Addition of a carboxy terminal tail to the normally tailless gonadotropin-releasing hormone receptor impairs fertility in female miceToufaily, Chirine, Fortin, Jérôme, Alonso, Carlos A. I., Lapointe, Evelyn, Zhou, Xiang, Santiago-Andres, Yorgui, Lin, Yeu-Farn, Cui, Yimming, Wang, Ying, Devost, Dominic, Roelfsema, Ferdinand, Steyn, Frederik, Hanyaloglu, Aylin C., Hébert, Terence E., Fiordelisio, Tatiana, Boerboom, Derek and Bernard, Daniel J. (2021). Addition of a carboxy terminal tail to the normally tailless gonadotropin-releasing hormone receptor impairs fertility in female mice. eLife, 10 e72937. doi: 10.7554/eLife.72937 |
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2021 Journal Article An exercise ‘sweet spot’ reverses cognitive deficits of ageing by growth hormone-induced neurogenesisBlackmore, Daniel G., Steyn, Frederik J., Carlisle, Alison, O’Keeffe, Imogen, Vien, King-Year, Zhou, Xiaoqing, Leiter, Odette, Jhaveri, Dhanisha, Vukovic, Jana, Waters, Michael J. and Bartlett, Perry F. (2021). An exercise ‘sweet spot’ reverses cognitive deficits of ageing by growth hormone-induced neurogenesis. iScience, 24 (11) 103275, 1-25. doi: 10.1016/j.isci.2021.103275 |
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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 17α-estradiol modulates IGF1 and hepatic gene expression in a sex-specific mannerSidhom, Silvana, Schneider, Augusto, Fang, Yimin, McFadden, Samuel, Darcy, Justin, Sathiaseelan, Roshini, Palmer, Allyson K, Steyn, Frederik J, Grillari, Johannes, Kopchick, John J, Bartke, Andrzej, Siddiqi, Shadab, Masternak, Michal M and Stout, Michael B (2021). 17α-estradiol modulates IGF1 and hepatic gene expression in a sex-specific manner. Journals of Gerontology. Series A: Biological Sciences and Medical Sciences, 76 (5), 778-785. doi: 10.1093/gerona/glaa215 |
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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 Development of a highly sensitive ELISA for measurement of FSH in serum, plasma, and whole blood in miceOngaro, Luisina, Alonso, Carlos Agustin Isidro, Zhou, Xiang, Brûlé, Emilie, Li, Yining, Schang, Gauthier, Parlow, Albert F., Steyn, Frederik and Bernard, Daniel J. (2021). Development of a highly sensitive ELISA for measurement of FSH in serum, plasma, and whole blood in mice. Endocrinology, 162 (4) bqab014, 1-11. doi: 10.1210/endocr/bqab014 |
