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2023 Journal Article Longitudinal changes in intrinsic motoneuron excitability in amyotrophic lateral sclerosis are dependent on disease progressionTrajano, Gabriel S., Orssatto, Lucas B. R., McCombe, Pamela A., Rivlin, Warwick, Tang, Lily and Henderson, Robert D. (2023). Longitudinal changes in intrinsic motoneuron excitability in amyotrophic lateral sclerosis are dependent on disease progression. The Journal of Physiology, 601 (21), 4723-4735. doi: 10.1113/jp285181 |
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2023 Journal Article Proteomic investigation of ALS motor cortex identifies known and novel pathogenetic mechanismsLee, Aven, Henderson, Robert, Jayakody Arachchige, Buddhika, Robertson, Thomas and McCombe, Pamela Ann (2023). Proteomic investigation of ALS motor cortex identifies known and novel pathogenetic mechanisms. Journal of the Neurological Sciences, 452 120753, 120753. doi: 10.1016/j.jns.2023.120753 |
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2023 Journal Article RFC1 in an Australasian neurological disease cohort: extending the genetic heterogeneity and implications for diagnosticsScriba, Carolin K, Stevanovski, Igor, Chintalaphani, Sanjog R, Gamaarachchi, Hasindu, Ghaoui, Roula, Ghia, Darshan, Henderson, Robert D, Jordan, Nerissa, Winkel, Antony, Lamont, Phillipa J, Rodrigues, Miriam J, Roxburgh, Richard H, Weisburd, Ben, Laing, Nigel G, Deveson, Ira W, Davis, Mark R and Ravenscroft, Gianina (2023). RFC1 in an Australasian neurological disease cohort: extending the genetic heterogeneity and implications for diagnostics. Brain Communications, 5 (4) fcad208, 1-14. doi: 10.1093/braincomms/fcad208 |
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2023 Journal Article COURAGE-ALS: a randomized, double-blind phase 3 study designed to improve participant experience and increase the probability of successShefner, Jeremy M., Al-Chalabi, Ammar, Andrews, Jinsy A., Chio, Adriano, De Carvalho, Mamede, Cockroft, Bettina M., Corcia, Philippe, Couratier, Philippe, Cudkowicz, Merit E., Genge, Angela, Hardiman, Orla, Heiman-Patterson, Terry, Henderson, Robert D., Ingre, Caroline, Jackson, Carlayne E., Johnston, Wendy, Lechtzin, Noah, Ludolph, Albert, Maragakis, Nicholas J., Miller, Timothy M., Mora Pardina, Jesus S., Petri, Susanne, Simmons, Zachary, Van Den Berg, Leonard H., Zinman, Lorne, Kupfer, Stuart, Malik, Fady I., Meng, Lisa, Simkins, Tyrell J. ... Rudnicki, Stacy A. (2023). COURAGE-ALS: a randomized, double-blind phase 3 study designed to improve participant experience and increase the probability of success. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 24 (5-6), 523-534. doi: 10.1080/21678421.2023.2216223 |
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Featured 2023 Journal Article Sensitivity and specificity of the ECAS in identifying executive function and social cognition deficits in MNDTjokrowijoto, Priscilla, Phillips, Mia, Ceslis, Amelia, Henderson, Robert D., McCombe, Pamela A. and Robinson, Gail A. (2023). Sensitivity and specificity of the ECAS in identifying executive function and social cognition deficits in MND. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 24 (5-6), 466-474. doi: 10.1080/21678421.2023.2188053 |
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2023 Journal Article Use of hip- versus wrist-based actigraphy for assessing functional decline and disease progression in patients with motor neuron diseaseHoldom, Cory J., van Unnik, Jordi W. J., van Eijk, Ruben P. A., van den Berg, Leonard H., Henderson, Robert D., Ngo, Shyuan T. and Steyn, Frederik J. (2023). Use of hip- versus wrist-based actigraphy for assessing functional decline and disease progression in patients with motor neuron disease. Journal of Neurology, 270 (5), 2597-2605. doi: 10.1007/s00415-023-11584-7 |
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2023 Journal Article Case report: Adult-onset limb girdle muscular dystrophy in sibling pair due to novel homozygous LAMA2 missense variantKatz, Matthew, Waddell, Leigh B., Yuen, Michaela, Bryen, Samantha J., Oates, Emily, Garton, Fleur C., Robertson, Thomas, Henderson, Robert David, Cooper, Sandra T. and McCombe, Pamela A. (2023). Case report: Adult-onset limb girdle muscular dystrophy in sibling pair due to novel homozygous LAMA2 missense variant. Frontiers in Neurology, 14 1055639, 1055639. doi: 10.3389/fneur.2023.1055639 |
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2023 Journal Article Muscle and its neuromuscular synapse – players in the pathogenesis of motor neuron diseaseNoakes, Peter G., Phillips, William D., Jeffree, Rosalind L., Steyn, Frederik J., Wolvetang, Ernst J., Henderson, Rob D., McCombe, Pamela A. and Ngo, Shyuan T. (2023). Muscle and its neuromuscular synapse – players in the pathogenesis of motor neuron disease. Journal of Experimental Neurology, 4 (1), 1-5. doi: 10.33696/neurol.4.067 |
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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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2023 Conference Publication 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 (2023). Open-Source Hypothalamic-ForniX (OSHy-X) Atlases and Segmentation Tool for 3T and 7T. Joint Annual Meeting ISMRM-ESMRMB & ISMRT 31st Annual Meeting, London, United Kingdom, 7-12 May 2022. Concord, CA United States: International Society for Magnetic Resonance in Medicine. doi: 10.58530/2022/3808 |
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2023 Other Outputs Skeletal muscle and blood RNA-seq counts in motor neurone disease cases and controlsAnna Freydenzon, Allan F. McRaee, Shyuan Ngo, Naomi R. Wray, Leanne Wallace, Anjali K. Henders, Pamela A. McCombe, Robert D. Henderson and Frederik J. Steyn (2023). Skeletal muscle and blood RNA-seq counts in motor neurone disease cases and controls. The University of Queensland. (Dataset) doi: 10.48610/b722f1f |
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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 |
