|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
2021 Journal Article Natalizumab, Fingolimod, and Dimethyl Fumarate use and pregnancy-related relapse and disability in women with multiple sclerosisYeh, Wei Zhen, Widyastuti, Putu Ayu, Van der Walt, Anneke, Stankovich, Jim, Havrdova, Eva, Horakova, Dana, Vodehnalova, Karolina, Ozakbas, Serkan, Eichau, Sara, Duquette, Pierre, Kalincik, Tomas, Patti, Francesco, Boz, Cavit, Terzi, Murat, Yamout, Bassem I., Lechner-Scott, Jeannette, Sola, Patrizia, Skibina, Olga G., Barnett, Michael, Onofrj, Marco, Sá, Maria José, McCombe, Pamela Ann, Grammond, Pierre, Ampapa, Radek, Grand'Maison, Francois, Bergamaschi, Roberto, Spitaleri, Daniele L.A., Van Pesch, Vincent, Cartechini, Elisabetta ... Jokubaitis, Vilija G. (2021). Natalizumab, Fingolimod, and Dimethyl Fumarate use and pregnancy-related relapse and disability in women with multiple sclerosis. Neurology, 96 (24), E2989-E3002. doi: 10.1212/WNL.0000000000012084 |
|
2021 Journal Article Post-COVID opsoclonus myoclonus syndrome: a case report from PakistanIshaq, Hira, Durrani, Talha, Umar, Zainab, Khan, Nemat, McCombe, Pamela and Ul Haq, Mian Ayaz (2021). Post-COVID opsoclonus myoclonus syndrome: a case report from Pakistan. Frontiers in Neurology, 12 672524, 672524. doi: 10.3389/fneur.2021.672524 |
|
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 |
|
2021 Conference Publication Real-world experience with cladribine tablets in the MSBase Registry (2942)Butzkueven, Helmut, Spelman, Timothy, Hodgkinson, Suzanne, Kalincik, Tomas, Buzzard, Katherine, Skabina, Olga, Madueño, Sara Eichau, Ayuso, Guillermo Izquierdo, Van der Walt, Anneke, Grand-Maison, Francois, Butler, Ernest, Prevost, Julie, McCombe, Pamela, Oh, Jiwon, Macdonell, Richard, Lechner-Scott, Jeannette, Van Pesch, Vincent, Duquette, Pierre, Prat, Alexandre, Girard, Marc, Kermode, Allan and Fabris, Jessica (2021). Real-world experience with cladribine tablets in the MSBase Registry (2942). 2021 AAN 73rd Annual Meeting, Virtual, 17-22 April 2021. Philadelphia, PA USA: Wolters Kluwer Health. doi: 10.1212/wnl.96.15_supplement.2942 |
|
2021 Conference Publication MRI patterns distinguish neuromyelitis optica spectrum disorder from multiple sclerosisClarke, Laura, Arnett, Simon, Bukhari, Wajih, Khalilidehkordi, Elham, Sanchez, Sofia Jimenez, O’Gorman, Cullen, Prain, Kerri, Woodhall, Mark, Silvestrini, Roger, Bundell, Christine, Abernethy, David, Bhuta, Sandeep, Blum, Stefan, Boggild, Mike, Boundy, Karyn, Brew, Bruce, Brownlee, Wallace, Butzkueven, Helmut, Carroll, William, Chen, Celia, Coulthard, Alan, Dale, Russell, Das, Chandi, Fabis-Pedrini, Marzena, Fulcher, David, Gillis, David, Hawke, Simon, Heard, Robert, Henderson, Andrew ... Broadley, Simon (2021). MRI patterns distinguish neuromyelitis optica spectrum disorder from multiple sclerosis. AAN 73rd Annual Meeting, Online, 17-22 April 2021. Philadelphia, PA United States: Wolters Kluwer. doi: 10.1212/wnl.96.15_supplement.4128 |
