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 |
2022 Journal Article Sex differences in Guillain Barré syndrome, chronic inflammatory demyelinating polyradiculoneuropathy and experimental autoimmune neuritisMcCombe, Pamela A., Hardy, Todd A., Nona, Robert J. and Greer, Judith M. (2022). Sex differences in Guillain Barré syndrome, chronic inflammatory demyelinating polyradiculoneuropathy and experimental autoimmune neuritis. Frontiers in Immunology, 13 1038411, 1-23. doi: 10.3389/fimmu.2022.1038411 |
2022 Journal Article Effect of immunotherapy on intracranial EEG in patients with seronegative autoimmune-associated epilepsyGillinder, Lisa, Papacostas, Jason, McCombe, Pamela and Chauvel, Patrick (2022). Effect of immunotherapy on intracranial EEG in patients with seronegative autoimmune-associated epilepsy. Epileptic Disorders, 24 (6), 1081-1086. doi: 10.1684/epd.2022.1488 |
2022 Journal Article Impact of methodological choices in comparative effectiveness studies: application in natalizumab versus fingolimod comparison among patients with multiple sclerosisLefort, M., Sharmin, S., Andersen, J. B., Vukusic, S., Casey, R., Debouverie, M., Edan, G., Ciron, J., Ruet, A., De Sèze, J., Maillart, E., Zephir, H., Labauge, P., Defer, G., Lebrun-Frenay, C., Moreau, T., Berger, E., Clavelou, P., Pelletier, J., Stankoff, B., Gout, O., Thouvenot, E., Heinzlef, O., Al-Khedr, A., Bourre, B., Casez, O., Cabre, P., Montcuquet, A., Wahab, A. ... Leray, E. (2022). Impact of methodological choices in comparative effectiveness studies: application in natalizumab versus fingolimod comparison among patients with multiple sclerosis. BMC Medical Research Methodology, 22 (1) 155, 1-14. doi: 10.1186/s12874-022-01623-8 |
2022 Journal Article Effects of biological sex and pregnancy in experimental autoimmune encephalomyelitis: It’s complicatedMcCombe, Pamela A. and Greer, Judith M. (2022). Effects of biological sex and pregnancy in experimental autoimmune encephalomyelitis: It’s complicated. Frontiers in Immunology, 13 1059833, 1-24. doi: 10.3389/fimmu.2022.1059833 |
2022 Journal Article Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysisCabrera-Serrano, Macarena, Caccavelli, Laure, Savarese, Marco, Vihola, Anna, Jokela, Manu, Johari, Mridul, Capiod, Thierry, Madrange, Marine, Bugiardini, Enrico, Brady, Stefen, Quinlivan, Rosaline, Merve, Ashirwad, Scalco, Renata, Hilton-Jones, David, Houlden, Henry, Aydin, Halil Ibrahim, Ceylaner, Serdar, Drewes, Sarah, Vockley, Jerry, Taylor, Rhonda L., Folland, Chiara, Kelly, Aasta, Goullee, Hayley, Ylikallio, Emil, Auranen, Mari, Tyynismaa, Henna, Udd, Bjarne, Forrest, Alistair R R, Davis, Mark R. ... Ravenscroft, Gianina (2022). Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis. Brain, 145 (11), 3985-3998. doi: 10.1093/brain/awab484 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |