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2022 Journal Article Disease reactivation after cessation of disease-modifying therapy in patients with relapsing-remitting multiple sclerosisRoos, Izanne, Malpas, Charles, Leray, Emmanuelle, Casey, Romain, Horakova, Dana, Havrdova, Eva Kubala, Debouverie, Marc, Patti, Francesco, De Seze, Jerome, Izquierdo, Guillermo, Eichau, Sara, Edan, Gilles, Prat, Alexandre, Girard, Marc, Ozakbas, Serkan, Grammond, Pierre, Zephir, Helene, Ciron, Jonathan, Maillart, Elisabeth, Moreau, Thibault, Amato, Maria Pia, Labauge, Pierre, Alroughani, Raed, Buzzard, Katherine, Skibina, Olga, Terzi, Murat, Laplaud, David Axel, Berger, Eric, Grand'maison, Francois ... Kalincik, Tomas (2022). Disease reactivation after cessation of disease-modifying therapy in patients with relapsing-remitting multiple sclerosis. Neurology, 99 (17), E1926-E1944. doi: 10.1212/WNL.0000000000201029 |
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2022 Journal Article Potential mechanisms to modify impaired glucose metabolism in neurodegenerative disordersMcDonald, Tanya S., Lerskiatiphanich, Titaya, Woodruff, Trent M., McCombe, Pamela A. and Lee, John D. (2022). Potential mechanisms to modify impaired glucose metabolism in neurodegenerative disorders. Journal of Cerebral Blood Flow and Metabolism, 43 (1), 26-43. doi: 10.1177/0271678x221135061 |
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2022 Conference Publication Latitude, UVR and multiple sclerosis severityVitkova, Marianna, Diouf, Ibrahima, Malpas, Charles, Barnett, Michael, Hodgkinson, Suzanne, Butler, Ernest, Slee, Mark, Taylor, Bruce, Butzkueven, Helmut, Lechner-Scott, Jeanette, McCombe, Pamela, Vucic, Steve, Macdonell, Richard, Shaw, Cameron and Kalincik, Tomas (2022). Latitude, UVR and multiple sclerosis severity. ANZAN Annual Scientific Meeting 2022, Melbourne, VIC Australia, 10-13 May 2022. London, United Kingdom: BMJ. doi: 10.1136/bmjno-2022-anzan.29 |
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2022 Conference Publication Comparison of the effectiveness of ocrelizumab vs interferon β, fingolimod and natalizumab on relapses in relapsing-remitting multiple sclerosisRoos, Izanne, Sharmin, Sifat, Lechner-Scott, Jeannette, Buzzard, Katherine, Skibina, Olga, Walt, Anneke van der, Butzkueven, Helmut, Butler, Ernest, MacDonell, Richard, McCombe, Pamela, Slee, Mark, Malpas, Charles and Kalincik, Tomas (2022). Comparison of the effectiveness of ocrelizumab vs interferon β, fingolimod and natalizumab on relapses in relapsing-remitting multiple sclerosis. ANZAN Annual Scientific Meeting 2022, Melbourne, VIC Australia, 10-13 May 2022. London, United Kingdom: BMJ. doi: 10.1136/bmjno-2022-anzan.26 |
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2022 Journal Article Association of latitude and exposure to ultraviolet B radiation with severity of multiple sclerosis: An international registry studyVitkova, Marianna, Diouf, Ibrahima, Malpas, Charles, Horakova, Dana, Kubala Havrdova, Eva, Patti, Francesco, Ozakbas, Serkan, Izquierdo, Guillermo, Eichau, Sara, Shaygannejad, Vahid, Onofrj, Marco, Lugaresi, Alessandra, Alroughani, Raed, Prat, Alexandre, Larochelle, Catherine, Girard, Marc, Duquette, Pierre, Terzi, Murat, Boz, Cavit, Grand'maison, Francois, Sola, Patrizia, Ferraro, Diana, Grammond, Pierre, Butzkueven, Helmut, Buzzard, Katherine, Skibina, Olga, Yamout, Bassem I., Karabudak, Rana, Gerlach, Oliver ... Kalincik, Tomas (2022). Association of latitude and exposure to ultraviolet B radiation with severity of multiple sclerosis: An international registry study. Neurology, 98 (24), E2401-E2412. doi: 10.1212/WNL.0000000000200545 |
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2022 Journal Article Confirmed disability progression as a marker of permanent disability in multiple sclerosisSharmin, Sifat, Bovis, Francesca, Malpas, Charles, Horakova, Dana, Havrdova, Eva Kubala, Izquierdo, Guillermo, Eichau, Sara, Trojano, Maria, Prat, Alexandre, Girard, Marc, Duquette, Pierre, Onofrj, Marco, Lugaresi, Alessandra, Grand'Maison, Francois, Grammond, Pierre, Sola, Patrizia, Ferraro, Diana, Terzi, Murat, Gerlach, Oliver, Alroughani, Raed, Boz, Cavit, Shaygannejad, Vahid, van Pesch, Vincent, Cartechini, Elisabetta, Kappos, Ludwig, Lechner-Scott, Jeannette, Bergamaschi, Roberto, Turkoglu, Recai, Solaro, Claudio ... Kalincik, Tomas (2022). Confirmed disability progression as a marker of permanent disability in multiple sclerosis. European Journal of Neurology, 29 (8), 2321-2334. doi: 10.1111/ene.15406 |
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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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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 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 |
