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2022 Journal Article Cloning of a new form of EAAT2/GLT-1 from human and rodent brainsLee, A., Klinkradt, S., McCombe, P. A. and Pow, D. V. (2022). Cloning of a new form of EAAT2/GLT-1 from human and rodent brains. Neuroscience Letters, 780 136637, 136637. doi: 10.1016/j.neulet.2022.136637 |
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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 The role of sex and pregnancy in multiple sclerosis: what do we know and what should we do?McCombe, Pamela A. (2022). The role of sex and pregnancy in multiple sclerosis: what do we know and what should we do?. Expert Review of Neurotherapeutics, 22 (5), 377-392. doi: 10.1080/14737175.2022.2060079 |
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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 Response to treatment in NMOSD: the Australasian experienceClarke, Laura, Bukhari, Wajih, O'Gorman, Cullen M., Khalilidehkordi, Elham, Arnett, Simon, Woodhall, Mark, Prain, Kerri M., Parratt, John D.E., Barnett, Michael H., Marriott, Mark P., McCombe, Pamela A., Sutton, Ian, Boggild, Mike, Brownlee, Wallace, Carroll, William M., Hodgkinson, Suzanne, Macdonell, Richard A.L., Mason, Deborah F., Pereira, Jennifer, Slee, Mark, Das, Chandi, Henderson, Andrew P.D., Kermode, Allan G., Lechner-Scott, Jeannette, Waters, Patrick, Sun, Jing and Broadley, Simon A. (2022). Response to treatment in NMOSD: the Australasian experience. Multiple Sclerosis and Related Disorders, 58 103408, 1-10. doi: 10.1016/j.msard.2021.103408 |
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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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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 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 Efficacy of Cladribine Tablets as a Treatment for People With Multiple Sclerosis: Protocol for the CLOBAS Study (Cladribine, a Multicenter, Long-term Efficacy and Biomarker Australian Study)Maltby, Vicki E, Lea, Rodney A, Monif, Mastura, Fabis-Pedrini, Marzena J, Buzzard, Katherine, Kalincik, Tomas, Kermode, Allan G, Taylor, Bruce, Hodgkinson, Suzanne, McCombe, Pamela, Butzkueven, Helmut, Barnett, Michael and Lechner-Scott, Jeannette (2021). Efficacy of Cladribine Tablets as a Treatment for People With Multiple Sclerosis: Protocol for the CLOBAS Study (Cladribine, a Multicenter, Long-term Efficacy and Biomarker Australian Study). JMIR Research Protocols, 10 (10) e24969, e24969. doi: 10.2196/24969 |
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2021 Journal Article Cytokines as a marker of central nervous system autoantibody associated epilepsyGillinder, Lisa, McCombe, Pamela, Powell, Tamara, Hartel, Gunter, Gillis, David, Rojas, Ingrid Leal and Radford, Kristen (2021). Cytokines as a marker of central nervous system autoantibody associated epilepsy. Epilepsy Research, 176 106708, 1-7. doi: 10.1016/j.eplepsyres.2021.106708 |
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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 MRI patterns distinguish AQP4 antibody positive neuromyelitis optica spectrum disorder from multiple sclerosisClarke, Laura, Arnett, Simon, Bukhari, Wajih, Khalilidehkordi, Elham, Jimenez Sanchez, Sofia, O'Gorman, Cullen, Sun, Jing, Prain, Kerri M., Woodhall, Mark, Silvestrini, Roger, Bundell, Christine S., Abernethy, David A., Bhuta, Sandeep, Blum, Stefan, Boggild, Mike, Boundy, Karyn, Brew, Bruce J., Brownlee, Wallace, Butzkueven, Helmut, Carroll, William M., Chen, Cella, Coulthard, Alan, Dale, Russell C., Das, Chandi, Fabis-Pedrini, Marzena J., Gillis, David, Hawke, Simon, Heard, Robert, Henderson, Andrew P. D. ... Broadley, Simon A. (2021). MRI patterns distinguish AQP4 antibody positive neuromyelitis optica spectrum disorder from multiple sclerosis. Frontiers in Neurology, 12 722237, 722237. doi: 10.3389/fneur.2021.722237 |
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2021 Journal Article Natalizumab versus fingolimod in patients with relapsing-remitting multiple sclerosis: a subgroup analysis from three international cohortsSharmin, Sifat, Lefort, Mathilde, Andersen, Johanna Balslev, Leray, Emmanuelle, Horakova, Dana, Havrdova, Eva Kubala, Alroughani, Raed, Izquierdo, Guillermo, Ozakbas, Serkan, Patti, Francesco, Onofrj, Marco, Lugaresi, Alessandra, Terzi, Murat, Grammond, Pierre, Grand’Maison, Francois, Yamout, Bassem, Prat, Alexandre, Girard, Marc, Duquette, Pierre, Boz, Cavit, Trojano, Maria, McCombe, Pamela, Slee, Mark, Lechner-Scott, Jeannette, Turkoglu, Recai, Sola, Patrizia, Ferraro, Diana, Granella, Franco, Prevost, Julie ... Kalincik, Tomas (2021). Natalizumab versus fingolimod in patients with relapsing-remitting multiple sclerosis: a subgroup analysis from three international cohorts. CNS Drugs, 35 (11), 1217-1232. doi: 10.1007/s40263-021-00860-7 |
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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 The effectiveness of natalizumab vs fingolimod – a comparison of international registry studiesAndersen, Johanna B, Sharmin, Sifat, Lefort, Mathilde, Koch-Henriksen, Nils, Sellebjerg, Finn, Sørensen, Per Soelberg, Hilt Christensen, Claudia C, Rasmussen, Peter V, Jensen, Michael B, Frederiksen, Jette L, Bramow, Stephan, Mathiesen, Henrik K, Schreiber, Karen I, Horakova, Dana, Havrdova, Eva K, Alroughani, Raed, Izquierdo, Guillermo, Eichau, Sara, Ozakbas, Serkan, Patti, Francesco, Onofrj, Marco, Lugaresi, Alessandra, Terzi, Murat, Grammond, Pierre, Grand Maison, Francois, Yamout, Bassem, Prat, Alexandre, Girard, Marc, Duquette, Pierre ... Magyari, Melinda (2021). The effectiveness of natalizumab vs fingolimod – a comparison of international registry studies. Multiple Sclerosis and Related Disorders, 53 103012, 103012. doi: 10.1016/j.msard.2021.103012 |
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2021 Journal Article NMOSD and MS prevalence in the Indigenous populations of Australia and New ZealandBukhari, Wajih, Khalilidehkordi, Elham, Mason, Deborah F., Barnett, Michael H., Taylor, Bruce V., Fabis-Pedrini, Marzena, Kermode, Allan G., Subramanian, Sankar, Waters, Patrick, Broadley, Simon A., Bukhari, Wajih, Broadley, Simon A., Abernethy, David, Bhuta, Sandeep, Blum, Stefan, Boggild, Mike, Boundy, Karyn, Brew, Bruce J., Brilot, Fabienne, Brownlee, Wallace J., Bundell, Christine S., Butzkueven, Helmut, Carroll, William M., Chen, Celia, Clarke, Laura, Coulthard, Alan, Dale, Russell C., Das, Chandi, Dear, Keith ... Yiu, Eppie M. (2021). NMOSD and MS prevalence in the Indigenous populations of Australia and New Zealand. Journal of Neurology, 269 (2), 836-845. doi: 10.1007/s00415-021-10665-9 |
