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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 survival

Nona, 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

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

2022

Journal Article

Sex differences in Guillain Barré syndrome, chronic inflammatory demyelinating polyradiculoneuropathy and experimental autoimmune neuritis

McCombe, 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

Sex differences in Guillain Barré syndrome, chronic inflammatory demyelinating polyradiculoneuropathy and experimental autoimmune neuritis

2022

Journal Article

Effect of immunotherapy on intracranial EEG in patients with seronegative autoimmune-associated epilepsy

Gillinder, 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

Effect of immunotherapy on intracranial EEG in patients with seronegative autoimmune-associated epilepsy

2022

Journal Article

Impact of methodological choices in comparative effectiveness studies: application in natalizumab versus fingolimod comparison among patients with multiple sclerosis

Lefort, 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

Impact of methodological choices in comparative effectiveness studies: application in natalizumab versus fingolimod comparison among patients with multiple sclerosis

2022

Journal Article

Effects of biological sex and pregnancy in experimental autoimmune encephalomyelitis: It’s complicated

McCombe, 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

Effects of biological sex and pregnancy in experimental autoimmune encephalomyelitis: It’s complicated

2022

Journal Article

Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis

Cabrera-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

Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis

2022

Journal Article

Lower hypothalamic volume with lower BMI is associated with shorter survival in patients with ALS

Chang, 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

Lower hypothalamic volume with lower BMI is associated with shorter survival in patients with ALS

2022

Journal Article

Disease reactivation after cessation of disease-modifying therapy in patients with relapsing-remitting multiple sclerosis

Roos, 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

Disease reactivation after cessation of disease-modifying therapy in patients with relapsing-remitting multiple sclerosis

2022

Journal Article

Potential mechanisms to modify impaired glucose metabolism in neurodegenerative disorders

McDonald, 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

Potential mechanisms to modify impaired glucose metabolism in neurodegenerative disorders

2022

Conference Publication

Latitude, UVR and multiple sclerosis severity

Vitkova, 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

Latitude, UVR and multiple sclerosis severity

2022

Conference Publication

Comparison of the effectiveness of ocrelizumab vs interferon β, fingolimod and natalizumab on relapses in relapsing-remitting multiple sclerosis

Roos, 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

Comparison of the effectiveness of ocrelizumab vs interferon β, fingolimod and natalizumab on relapses in relapsing-remitting multiple sclerosis

2022

Journal Article

Association of latitude and exposure to ultraviolet B radiation with severity of multiple sclerosis: An international registry study

Vitkova, 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

Association of latitude and exposure to ultraviolet B radiation with severity of multiple sclerosis: An international registry study

2022

Journal Article

Confirmed disability progression as a marker of permanent disability in multiple sclerosis

Sharmin, 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

Confirmed disability progression as a marker of permanent disability in multiple sclerosis

2022

Journal Article

Cloning of a new form of EAAT2/GLT-1 from human and rodent brains

Lee, 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

Cloning of a new form of EAAT2/GLT-1 from human and rodent brains

2022

Journal Article

HLA and amyotrophic lateral sclerosis: a systematic review and meta-analysis

Nona, 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

HLA and amyotrophic lateral sclerosis: a systematic review and meta-analysis

2022

Journal Article

Impaired signaling for neuromuscular synaptic maintenance is a feature of Motor Neuron Disease

Ding, 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

Impaired signaling for neuromuscular synaptic maintenance is a feature of Motor Neuron Disease

2022

Journal Article

Novel variants of ANO5 in two patients with limb girdle muscular dystrophy: Case Report

Katz, 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

Novel variants of ANO5 in two patients with limb girdle muscular dystrophy: Case Report

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

The role of sex and pregnancy in multiple sclerosis: what do we know and what should we do?

2022

Journal Article

Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS

Hop, 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

Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS

2022

Journal Article

Response to treatment in NMOSD: the Australasian experience

Clarke, 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

Response to treatment in NMOSD: the Australasian experience