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2023 Journal Article Phenotypic variability within the desminopathies: A case series of three patientsYeow, Dennis, Katz, Matthew, Henderson, Robert, Prasad, Sandhir, Denman, Russell, Blum, Stefan, Davis, Mark, Robertson, Thomas and McCombe, Pamela (2023). Phenotypic variability within the desminopathies: A case series of three patients. Frontiers in Neurology, 13 1110934. doi: 10.3389/fneur.2022.1110934 |
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2023 Journal Article Clinical and neurophysiological biomarkers of disease progression in amyotrophic lateral sclerosisHannaford, Andrew, Byth, Karen, Pavey, Nathan, Henderson, Robert D., Mathers, Susan, Needham, Merrilee, Schultz, David, Menon, Parvathi, Kiernan, Matthew C. and Vucic, Steve (2023). Clinical and neurophysiological biomarkers of disease progression in amyotrophic lateral sclerosis. Muscle and Nerve, 67 (1), 17-24. doi: 10.1002/mus.27736 |
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2022 Journal Article Age of onset and length of survival of Queensland patients with amyotrophic lateral sclerosis: with details of subjects with early onset and subjects with long survivalNona, Robert J., Xu, Zhouwei, Robinson, Gail A., Henderson, Robert D. and McCombe, Pamela A. (2022). Age of onset and length of survival of Queensland patients with amyotrophic lateral sclerosis: with details of subjects with early onset and subjects with long survival. Neurodegenerative Diseases, 22 (3-4), 1-18. doi: 10.1159/000528875 |
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2022 Journal Article Lower hypothalamic volume with lower BMI is associated with shorter survival in patients with ALSChang, Jeryn, Shaw, Thomas B., Holdom, Cory J., McCombe, Pamela A., Henderson, Robert D., Fripp, Jurgen, Barth, Markus, Guo, Christine C., Ngo, Shyuan T. and Steyn, Frederik J. (2022). Lower hypothalamic volume with lower BMI is associated with shorter survival in patients with ALS. European Journal of Neurology, 30 (1), 57-68. doi: 10.1111/ene.15589 |
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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 HLA and amyotrophic lateral sclerosis: a systematic review and meta-analysisNona, R. J., Greer, J. M., Henderson, R. D. and McCombe, P. A. (2022). HLA and amyotrophic lateral sclerosis: a systematic review and meta-analysis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 24 (1-2), 1-9. doi: 10.1080/21678421.2022.2078665 |
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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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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 |
