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2023

Journal Article

Disability accrual in primary and secondary progressive multiple sclerosis

Harding-Forrester, Sam, Roos, Izanne, Nguyen, Ai-Lan, Malpas, Charles B., Diouf, Ibrahima, Moradi, Nahid, Sharmin, Sifat, Izquierdo, Guillermo, Eichau, Sara, Patti, Francesco, Horakova, Dana, Kubala Havrdova, Eva, Prat, Alexandre, Girard, Marc, Duquette, Pierre, Grand'Maison, Francois, Onofrj, Marco, Lugaresi, Alessandra, Grammond, Pierre, Ozakbas,, Serkan, Amato, Maria Pia, Gerlach, Oliver, Sola, Patrizia, Ferraro, Diana, Buzzard, Katherine, Skibina, Olga, Lechner-Scott, Jeannette, Alroughani, Raed, Boz, Cavit ... Kalincik, Tomas (2023). Disability accrual in primary and secondary progressive multiple sclerosis. Journal of Neurology, Neurosurgery and Psychiatry, 94 (9) 330726, 1-11. doi: 10.1136/jnnp-2022-330726

Disability accrual in primary and secondary progressive multiple sclerosis

2023

Journal Article

Effectiveness of multiple disease-modifying therapies in relapsing-remitting multiple sclerosis: causal inference to emulate a multiarm randomised trial

Diouf, Ibrahima, Malpas, Charles B, Sharmin, Sifat, Roos, Izanne, Horakova, Dana, Kubala Havrdova, Eva, Patti, Francesco, Shaygannejad, Vahid, Ozakbas, Serkan, Eichau, Sara, Onofrj, Marco, Lugaresi, Alessandra, Alroughani, Raed, Prat, Alexandre, Duquette, Pierre, Terzi, Murat, Boz, Cavit, Grand'Maison, Francois, Sola, Patrizia, Ferraro, Diana, Grammond, Pierre, Yamout, Bassem, Altintas, Ayse, Gerlach, Oliver, Lechner-Scott, Jeannette, Bergamaschi, Roberto, Karabudak, Rana, Iuliano, Gerardo, McGuigan, Christopher ... Kalincik, Tomas (2023). Effectiveness of multiple disease-modifying therapies in relapsing-remitting multiple sclerosis: causal inference to emulate a multiarm randomised trial. Journal of Neurology, Neurosurgery and Psychiatry, 94 (12), jnnp-2023. doi: 10.1136/jnnp-2023-331499

Effectiveness of multiple disease-modifying therapies in relapsing-remitting multiple sclerosis: causal inference to emulate a multiarm randomised trial

2023

Journal Article

Early non-disabling relapses are important predictors of disability accumulation in people with relapsing-remitting multiple sclerosis

Daruwalla, Cyrus, Shaygannejad, Vahid, Ozakbas, Serkan, Havrdova, Eva Kubala, Horakova, Dana, Alroughani, Raed, Boz, Cavit, Patti, Francesco, Onofrj, Marco, Lugaresi, Alessandra, Eichau, Sara, Girard, Marc, Prat, Alexandre, Duquette, Pierre, Yamout, Bassem, Khoury, Samia J., Sajedi, Seyed Aidin, Turkoglu, Recai, Altintas, Ayse, Skibina, Olga, Buzzard, Katherine, Grammond, Pierre, Karabudak, Rana, van der Walt, Anneke, Butzkueven, Helmut, Maimone, Davide, Lechner-Scott, Jeannette, Soysal, Aysun, John, Nevin ... Brown, J William L (2023). Early non-disabling relapses are important predictors of disability accumulation in people with relapsing-remitting multiple sclerosis. Multiple Sclerosis, 29 (7), 875-883. doi: 10.1177/13524585231151951

Early non-disabling relapses are important predictors of disability accumulation in people with relapsing-remitting multiple sclerosis

2023

Conference Publication

Novel real world evidence from MSGo, a digital support program for secondary progressive multiple sclerosis patients in Australia using Siponimod

Hardy, Todd, Aouad, Patrick, Barnett, Michael, Blum, Stefan, Broadley, Simon, Carroll, William, Crimmins, Denis, Griffiths, Dayna, Hodgkinson, Suzanne, Lechner-Scott, Jeannette, Lee, Andrew, Malhotra, Ram, McCombe, Pamela, Parratt, John, Plummer, Christopher, Van der Walt, Anneke, Martel, Kate and Walker, Rob (2023). Novel real world evidence from MSGo, a digital support program for secondary progressive multiple sclerosis patients in Australia using Siponimod. PACTRIMS 2022: 12th Pan-Asian Committee for Treatment and Research in Multiple Sclerosis, Singapore, Singapore, 24-26 November 2022. London, United Kingdom: Sage Publications.

Novel real world evidence from MSGo, a digital support program for secondary progressive multiple sclerosis patients in Australia using Siponimod

2023

Journal Article

Comparative effectiveness of autologous hematopoietic stem cell transplant vs fingolimod, natalizumab, and ocrelizumab in highly active relapsing-remitting multiple sclerosis

Kalincik, Tomas, Sharmin, Sifat, Roos, Izanne, Freedman, Mark S., Atkins, Harold, Burman, Joachim, Massey, Jennifer, Sutton, Ian, Withers, Barbara, Macdonell, Richard, Grigg, Andrew, Torkildsen, Øivind, Bo, Lars, Lehmann, Anne Kristine, Havrdova, Eva Kubala, Krasulova, Eva, Trněný, Marek, Kozak, Tomas, van der Walt, Anneke, Butzkueven, Helmut, McCombe, Pamela, Skibina, Olga, Lechner-Scott, Jeannette, Willekens, Barbara, Cartechini, Elisabetta, Ozakbas, Serkan, Alroughani, Raed, Kuhle, Jens, Patti, Francesco ... MSBase Study Group Authors (2023). Comparative effectiveness of autologous hematopoietic stem cell transplant vs fingolimod, natalizumab, and ocrelizumab in highly active relapsing-remitting multiple sclerosis. JAMA Neurology, 80 (7), 702-713. doi: 10.1001/jamaneurol.2023.1184

Comparative effectiveness of autologous hematopoietic stem cell transplant vs fingolimod, natalizumab, and ocrelizumab in highly active relapsing-remitting multiple sclerosis

2023

Journal Article

Variability of the response to immunotherapy among subgroups of patients with multiple sclerosis

Diouf, Ibrahima, Malpas, Charles B., Sharmin, Sifat, Roos, Izanne, Horakova, Dana, Havrdova, Eva Kubala, Patti, Francesco, Shaygannejad, Vahid, Ozakbas, Serkan, Izquierdo, Guillermo, Eichau, Sara, Onofrj, Marco, Lugaresi, Alessandra, Alroughani, Raed, Prat, Alexandre, Girard, Marc, Duquette, Pierre, Terzi, Murat, Boz, Cavit, Grand'Maison, Francois, Hamdy, Sherif, Sola, Patrizia, Ferraro, Diana, Grammond, Pierre, Turkoglu, Recai, Buzzard, Katherine, Skibina, Olga, Yamout, Bassem, Altintas, Ayse ... Kalincik, Tomas (2023). Variability of the response to immunotherapy among subgroups of patients with multiple sclerosis. European Journal of Neurology, 30 (4), 1014-1024. doi: 10.1111/ene.15706

Variability of the response to immunotherapy among subgroups of patients with multiple sclerosis

2023

Journal Article

Sensitivity and specificity of the ECAS in identifying executive function and social cognition deficits in MND

Tjokrowijoto, Priscilla, Phillips, Mia, Ceslis, Amelia, Henderson, Robert D., McCombe, Pamela A. and Robinson, Gail A. (2023). Sensitivity and specificity of the ECAS in identifying executive function and social cognition deficits in MND. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 24 (5-6), 466-474. doi: 10.1080/21678421.2023.2188053

Sensitivity and specificity of the ECAS in identifying executive function and social cognition deficits in MND

2023

Journal Article

Comparative effectiveness in multiple sclerosis: a methodological comparison

Roos, Izanne, Diouf, Ibrahima, Sharmin, Sifat, Horakova, Dana, Havrdova, Eva Kubala, Patti, Francesco, Shaygannejad, Vahid, Ozakbas, Serkan, Izquierdo, Guillermo, Eichau, Sara, Onofrj, Marco, Lugaresi, Alessandra, Alroughani, Raed, Prat, Alexandre, Girard, Marc, Duquette, Pierre, Terzi, Murat, Boz, Cavit, Grand’Maison, Francois, Sola, Patrizia, Ferraro, Diana, Grammond, Pierre, Turkoglu, Recai, Buzzard, Katherine, Skibina, Olga, Yamou, Bassem, Altintas, Ayse, Gerlach, Oliver, van Pesch, Vincent ... Kalincik, Tomas (2023). Comparative effectiveness in multiple sclerosis: a methodological comparison. Multiple Sclerosis Journal, 29 (3), 326-332. doi: 10.1177/13524585231151394

Comparative effectiveness in multiple sclerosis: a methodological comparison

2023

Journal Article

Case report: Adult-onset limb girdle muscular dystrophy in sibling pair due to novel homozygous LAMA2 missense variant

Katz, Matthew, Waddell, Leigh B., Yuen, Michaela, Bryen, Samantha J., Oates, Emily, Garton, Fleur C., Robertson, Thomas, Henderson, Robert David, Cooper, Sandra T. and McCombe, Pamela A. (2023). Case report: Adult-onset limb girdle muscular dystrophy in sibling pair due to novel homozygous LAMA2 missense variant. Frontiers in Neurology, 14 1055639, 1055639. doi: 10.3389/fneur.2023.1055639

Case report: Adult-onset limb girdle muscular dystrophy in sibling pair due to novel homozygous LAMA2 missense variant

2023

Journal Article

Muscle and its neuromuscular synapse – players in the pathogenesis of motor neuron disease

Noakes, Peter G., Phillips, William D., Jeffree, Rosalind L., Steyn, Frederik J., Wolvetang, Ernst J., Henderson, Rob D., McCombe, Pamela A. and Ngo, Shyuan T. (2023). Muscle and its neuromuscular synapse – players in the pathogenesis of motor neuron disease. Journal of Experimental Neurology, 4 (1), 1-5. doi: 10.33696/neurol.4.067

Muscle and its neuromuscular synapse – players in the pathogenesis of motor neuron disease

2023

Journal Article

Phenotypic variability within the desminopathies: A case series of three patients

Yeow, Dennis, Katz, Matthew, Henderson, Robert, Prasad, Sandhir, Denman, Russell, Blum, Stefan, Davis, Mark, Robertson, Thomas and McCombe, Pamela (2023). Phenotypic variability within the desminopathies: A case series of three patients. Frontiers in Neurology, 13 1110934. doi: 10.3389/fneur.2022.1110934

Phenotypic variability within the desminopathies: A case series of three patients

2023

Other Outputs

Skeletal muscle and blood RNA-seq counts in motor neurone disease cases and controls

Anna Freydenzon, Allan F. McRaee, Shyuan Ngo, Naomi R. Wray, Leanne Wallace, Anjali K. Henders, Pamela A. McCombe, Robert D. Henderson and Frederik J. Steyn (2023). Skeletal muscle and blood RNA-seq counts in motor neurone disease cases and controls. The University of Queensland. (Dataset) doi: 10.48610/b722f1f

Skeletal muscle and blood RNA-seq counts in motor neurone disease cases and controls

2023

Journal Article

Heterogeneity on long-term disability trajectories in patients with secondary progressive MS: a latent class analysis from Big MS Data network

Signori, Alessio, Lorscheider, Johannes, Vukusic, Sandra, Trojano, Maria, Iaffaldano, Pietro, Hillert, Jan, Hyde, Robert, Pellegrini, Fabio, Magyari, Melinda, Koch-Henriksen, Nils, Sørensen, Per Soelberg, Spelman, Tim, van der Walt, Anneke, Horakova, Dana, Havrdova, Eva, Girard, Marc, Eichau, Sara, Grand'Maison, Francois, Gerlach, Oliver, Terzi, Murat, Ozakbas, Serkan, Skibina, Olga, Van Pesch, Vincent, Sa, Maria Jose, Prevost, Julie, Alroughani, Raed, McCombe, Pamela A, Gouider, Riadh, Mrabet, Saloua ... Butzkueven, Helmut (2023). Heterogeneity on long-term disability trajectories in patients with secondary progressive MS: a latent class analysis from Big MS Data network. Journal of Neurology, Neurosurgery and Psychiatry, 94 (1), 23-30. doi: 10.1136/jnnp-2022-329987

Heterogeneity on long-term disability trajectories in patients with secondary progressive MS: a latent class analysis from Big MS Data network

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

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

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

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