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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 Novel variants of ANO5 in two patients with limb girdle muscular dystrophy: Case ReportKatz, Matthew, Garton, Fleur C., Davis, Mark, Henderson, Robert D. and McCombe, Pamela A. (2022). Novel variants of ANO5 in two patients with limb girdle muscular dystrophy: Case Report. Frontiers in Neurology, 13 868655, 868655. doi: 10.3389/fneur.2022.868655 |
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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 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 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 Comprehensive cell type decomposition of circulating cell-free DNA with CelFiECaggiano, Christa, Celona, Barbara, Garton, Fleur, Mefford, Joel, Black, Brian L., Henderson, Robert, Lomen-Hoerth, Catherine, Dahl, Andrew and Zaitlen, Noah (2021). Comprehensive cell type decomposition of circulating cell-free DNA with CelFiE. Nature Communications, 12 (1) 2717. doi: 10.1038/s41467-021-22901-x |
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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 Phase 1b dose-escalation, safety, and pharmacokinetic study of IC14, a monoclonal antibody against CD14, for the treatment of amyotrophic lateral sclerosisHenderson, Robert D., Agosti, Jan M., McCombe, Pamela A., Thorpe, Kathryn, Heggie, Susan, Heshmat, Saman, Appleby, Mark W., Ziegelaar, Brian W., Crowe, David T. and Redlich, Garry L. (2021). Phase 1b dose-escalation, safety, and pharmacokinetic study of IC14, a monoclonal antibody against CD14, for the treatment of amyotrophic lateral sclerosis. Medicine, 100 (42), e27421. doi: 10.1097/MD.0000000000027421 |
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2021 Journal Article Assessing the upper motor neurone: novel UMN biomarkers are needed for clinical trialsHenderson, Robert D. and Devine, Matthew S. (2021). Assessing the upper motor neurone: novel UMN biomarkers are needed for clinical trials. Journal of Neurology, Neurosurgery and Psychiatry, 93 (1), 3-3. doi: 10.1136/jnnp-2021-327948 |
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2021 Journal Article MiNDAUS partnership: a roadmap for the cure and management of motor Neurone diseaseVucic, Steve, Wray, Naomi, Henders, Anjali, Henderson, Robert D., Talman, Paul, Mathers, Susan, Bellgard, Matthew, Aoun, Samar, Birks, Carol, Thomas, Gethin, Hansen, Catherine, Thomas, Geoff, Hogden, Anne, Needham, Merrilee, Schultz, David, Soulis, Tina, Sheean, Bec, Milne, Jane, Rowe, Dominic, Zoing, Margie and Kiernan, Matthew C (2021). MiNDAUS partnership: a roadmap for the cure and management of motor Neurone disease. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 23 (5-6), 1-8. doi: 10.1080/21678421.2021.1980889 |
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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 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 Elevated levels of homocysteinesulfinic acid in the plasma of patients with amyotrophic lateral sclerosis: a potential source of excitotoxicity?Lee, Aven, Arachchige, Buddhika Jayakody, Henderson, Robert, Aylward, James and McCombe, Pamela Ann (2021). Elevated levels of homocysteinesulfinic acid in the plasma of patients with amyotrophic lateral sclerosis: a potential source of excitotoxicity?. Neurodegenerative Diseases, 20 (5-6), 200-206. doi: 10.1159/000517964 |
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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 Hemoglobin, body mass index, and age as risk factors for Paclitaxel- and Oxaliplatin-induced peripheral neuropathyMizrahi, David, Park, Susanna B., Li, Tiffany, Timmins, Hannah C., Trinh, Terry, Au, Kimberley, Battaglini, Eva, Wyld, David, Henderson, Robert D., Grimison, Peter, Ke, Helen, Geelan-Small, Peter, Marker, Julie, Wall, Brian and Goldstein, David (2021). Hemoglobin, body mass index, and age as risk factors for Paclitaxel- and Oxaliplatin-induced peripheral neuropathy. JAMA Network Open, 4 (2) e2036695, 1-14. doi: 10.1001/jamanetworkopen.2020.36695 |
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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 Clinical and electrophysiological examination of pinch strength in patients with amyotrophic lateral sclerosisLee, John D., Heshmat, Saman, Heggie, Susan, Thorpe, Kathryn A., McCombe, Pamela A. and Henderson, Robert D. (2021). Clinical and electrophysiological examination of pinch strength in patients with amyotrophic lateral sclerosis. Muscle and Nerve, 63 (1) mus.27111, 108-113. doi: 10.1002/mus.27111 |
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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 |
