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2025 Journal Article Personalized federated learning for predicting disability progression in multiple sclerosis using real-world routine clinical dataPirmani, Ashkan, De Brouwer, Edward, Arany, Ádám, Oldenhof, Martijn, Passemiers, Antoine, Faes, Axel, Kalincik, Tomas, Ozakbas, Serkan, Gouider, Riadh, Willekens, Barbara, Horakova, Dana, Havrdova, Eva Kubala, Patti, Francesco, Prat, Alexandre, Lugaresi, Alessandra, Tomassini, Valentina, Grammond, Pierre, Cartechini, Elisabetta, Roos, Izanne, Boz, Cavit, Alroughani, Raed, Amato, Maria Pia, Buzzard, Katherine, Lechner-Scott, Jeannette, Guimarães, Joana, Solaro, Claudio, Gerlach, Oliver, Soysal, Aysun, Kuhle, Jens ... Moreau, Yves (2025). Personalized federated learning for predicting disability progression in multiple sclerosis using real-world routine clinical data. npj Digital Medicine, 8 (1) 478, 1. doi: 10.1038/s41746-025-01788-8 |
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2025 Journal Article Co-Design and Non-Randomised Pilot Evaluation of Resources Developed to Optimise Saliva Management in People with Motor Neurone DiseaseTaubert, Shana, Collins, Annette, Henderson, Robert, McCombe, Pamela, Tang, Lily, Kramer, Katrina, Wishart, Laurelie and Burns, Clare (2025). Co-Design and Non-Randomised Pilot Evaluation of Resources Developed to Optimise Saliva Management in People with Motor Neurone Disease. Healthcare, 13 (21) 2813, 2813. doi: 10.3390/healthcare13212813 |
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2025 Journal Article Epigenetic profiles of tissue informative CpGs inform ALS disease status and progressionCaggiano, Christa, Morselli, Marco, Qian, Xiaoyu, Celona, Barbara, Thompson, Michael J., Wani, Shivangi, Tosevska, Anela, Taraszka, Kodi, Heuer, Galen, Ngo, Shyuan T., Steyn, Frederick J., Nestor, Peter J., Wallace, Leanne, Mccombe, Pamela, Heggie, Susan, Thorpe, Kathryn, Mcelligott, Caitlin, English, Gemyka, Henders, Anjali, Henderson, Robert, Lomen-Hoerth, Catherine, Wray, Naomi R., Mcrae, Allan F., Pellegrini, Matteo, Garton, Fleur C. and Zaitlen, Noah (2025). Epigenetic profiles of tissue informative CpGs inform ALS disease status and progression. Genome Medicine, 17 (1) 115, 115. doi: 10.1186/s13073-025-01542-5 |
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2025 Conference Publication YI5 Targeted nanopore long-read sequencing improves diagnosis of genetic myopathiesYeow, Dennis, Stevanovski, Igor, Reis, Andre LM, Rudaks, Laura I, Chintalaphani, Sanjog R, Grosz, Bianca, Liang, Christina, Morris, Katrina A, Reddel, Stephen, McCombe, Pamela A, Zhu, Danqing, Stoll, Marion, Davis, Ryan L, Manser, David, Tchan, Michel, Worgan, Lisa, Hannaford, Andrew, Sue, Carolyn M, Shandiz, Ehsan, Ahmad, Kate E, Ghaoui, Roula, Barnes, Stephanie L, Sturm, Jonathan, Willard, Anna, Hawke, Simon, Ng, Karl, Cheong, Pak Leng, Kennerson, Marina L, Kumar, Kishore R and Deveson, Ira W (2025). YI5 Targeted nanopore long-read sequencing improves diagnosis of genetic myopathies. BMJ Publishing Group Ltd. doi: 10.1136/bmjno-2025-anzan.5 |
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2025 Conference Publication Preserving neurological function in people at high and low risk of aggressive multiple sclerosisRoos, Izanne, Sharmin, Sifat, Lechner-Scott, Jeannette, Buzzard, Katherine, Skibina, Olga, Walt, Anneke van der, Butzkueven, Helmut, Barnett, Michael, Macdonell, Richard, John, Nevin, Hodgkinson, Suzanne, Slee, Mark, McCombe, Pamela, Garber, Justin, Kermode, Allan G., Fabis-Pedrini, Marzena J., Carroll, William M., Taylor, Bruce, Vukusic, Sandra and Kalincik, Tomas (2025). Preserving neurological function in people at high and low risk of aggressive multiple sclerosis. ANZAN Annual Scientific Meeting 2025, Sydney, NSW Australia, 23-26 June 2025. London, United Kingdom: BMJ Group. doi: 10.1136/bmjno-2025-anzan.153 |
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2025 Conference Publication YI6 MS outcomes in breast cancer survivors and the influence of chemotherapyNesbitt, Cassie, Sanfilippo, Paul, Zhu, Chao, Ozakbas, Serkan, Prat, Alexandre, Girard, Marc, Duquette, Pierre, Kalincik, Tomas, Roos, Izanne, Buzzard, Katherine, Skibina, Olga, Foschi, Matteo, Surcinelli, Andrea, Boz, Cavit, Lechner-Scott, Jeannette, Libertinova, Jana, Patti, Francesco, Kermode, Allan, Pedrini, Marzena, Carroll, William, Barnett, Michael, Taylor, Bruce, Hodgkinson, Suzanne, Barnett, Michael, Mccombe, Pamela, Reddel, Stephen, Vucic, Steve, Ramanathan, Sudarshini, Macdonell, Richard ... Jokubaitis, Vilija (2025). YI6 MS outcomes in breast cancer survivors and the influence of chemotherapy. BMJ Publishing Group Ltd. doi: 10.1136/bmjno-2025-anzan.6 |
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2025 Journal Article Menopause Impact on Multiple Sclerosis Disability ProgressionBridge, Francesca, Sanfilippo, Paul G., Zhu, Chao, Skibina, Olga, Nguyen, Ai-Lan, Kalincik, Tomas, Buzzard, Katherine, Taylor, Bruce V., MacIntyre, Jennifer, Hall, Lesley-Ann, Slee, Mark, Macdonell, Richard, Maltby, Vicki, Lechner-Scott, Jeannette, McCombe, Pamela, Butzkueven, Helmut, van der Walt, Anneke and Jokubaitis, Vilija G. (2025). Menopause Impact on Multiple Sclerosis Disability Progression. JAMA Neurology, 82 (12). doi: 10.1001/jamaneurol.2025.3538 |
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2025 Journal Article Living with dysphagia and dysarthria: a qualitative exploration of the perspectives of people with motor neuron disease and their caregiversPacker, Rebecca, Rumbach, Anna, Farrell, Anna, Hutchinson, Nicole, Verner-Wren, Stacey, Henderson, Robert and McCombe, Pamela (2025). Living with dysphagia and dysarthria: a qualitative exploration of the perspectives of people with motor neuron disease and their caregivers. Healthcare, 13 (18) 2306, 1. doi: 10.3390/healthcare13182306 |
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2025 Journal Article Segmentation of the human tongue musculature using MRI: Field guide and validation in motor neuron diseaseShaw, Thomas B., Ribeiro, Fernanda L., Zhu, Xiangyun, Aiken, Patrick, Bollmann, Saskia, Bollmann, Steffen, Chang, Jeryn, Chidley, Kali, Dempsey-Jones, Harriet, Eftekhari, Zeinab, Gillespie, Jennifer, Henderson, Robert D., Kiernan, Matthew C., Ktena, Ira, McCombe, Pamela A., Ngo, Shyuan T., Taubert, Shana T., Whelan, Brooke-Mai, Ye, Xincheng, Steyn, Frederik J., Tu, Sicong and Barth, Markus (2025). Segmentation of the human tongue musculature using MRI: Field guide and validation in motor neuron disease. Computers in Biology and Medicine, 196 (Part B) 110824, 1-13. doi: 10.1016/j.compbiomed.2025.110824 |
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2025 Journal Article Haematopoietic stem cell transplant versus immune-reconstitution therapy in relapsing multiple sclerosisKalincik, Tomas, Sharmin, Sifat, Roos, Izanne, Freedman, Mark S, Atkins, Harold, Massey, Jennifer, Sutton, Ian, Withers, Barbara, Burman, Joachim, Torkildsen, Øivind, Bø, Lars, Lehmann, Anne Kristine, Havrdova, Eva Kubala, Krasulova, Eva, Trneny, Marek, Kozak, Tomas, Macdonell, Richard, Brown, J William L, Coles, Alasdair, van der Walt, Anneke, Butzkueven, Helmut, Van Wijmeersch, Bart, Lechner-Scott, Jeannette, Barnett, Michael, Laureys, Guy, Willekens, Barbara, Buzzard, Katherine, Skibina, Olga, Di Gregorio, Maria ... Snowden, John A (2025). Haematopoietic stem cell transplant versus immune-reconstitution therapy in relapsing multiple sclerosis. Brain awaf286. doi: 10.1093/brain/awaf286 |
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2025 Journal Article Applying high-density surface EMG to the study of neuromuscular disorders: a systematic reviewShandiz, Ehsan, Gaskell, Asbjorn, Ingram, Matthew, Trajano, Gabriel, Fernandes, Gabriel L., Henkin, Joao, McCombe, Pamela and Henderson, Robert (2025). Applying high-density surface EMG to the study of neuromuscular disorders: a systematic review. Clinical Neurophysiology, 179 2110983, 2110983. doi: 10.1016/j.clinph.2025.2110983 |
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2025 Journal Article Progression independent of relapse activity and relapse-associated worsening in seronegative NMOSD: an international cohort studySiriratnam, Pakeeran, Huda, Saif, van der Walt, Anneke, Sanfilippo, Paul, Sharmin, Sifat, Foong, Yi Chao, Yeh, Wei Zhen, Zhu, Chao, Khoury, Samia J., Csepany, Tunde, Willekens, Barbara, Etemadifar, Masoud, Ozakbas, Serkan, Nytrova, Petra, Altintas, Ayse, Al-Asmi, Abdullah, Ramo-Tello, Cristina, Laureys, Guy, Patti, Francesco, Horakova, Dana, Foschi, Matteo, Boz, Cavit, Mccombe, Pamela, Turkoglu, Recai, Roos, Izanne, Lechner-Scott, Jeannette, Kalincik, Tomas, Jokubaitis, Vilija, Butzkueven, Helmut and Monif, Mastura (2025). Progression independent of relapse activity and relapse-associated worsening in seronegative NMOSD: an international cohort study. Journal of Neurology, 272 (5) 339, 339. doi: 10.1007/s00415-025-13064-6 |
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2025 Journal Article Explainable time-to-progression predictions in multiple sclerosisD’hondt, Robbe, Dedja, Klest, Aerts, Sofie, Van Wijmeersch, Bart, Kalincik, Tomas, Reddel, Stephen, Havrdova, Eva Kubala, Lugaresi, Alessandra, Weinstock-Guttman, Bianca, Mrabet, Saloua, Lalive, Patrice, Kermode, Allan G., Ozakbas, Serkan, Patti, Francesco, Prat, Alexandre, Tomassini, Valentina, Roos, Izanne, Alroughani, Raed, Gerlach, Oliver, Khoury, Samia J., van Pesch, Vincent, Sa, Maria Jose, Prevost, Julie, Spitaleri, Daniele, McCombe, Pamela, Solaro, Claudio, van der Walt, Anneke, Butzkueven, Helmut, Laureys, Guy ... Vens, Celine (2025). Explainable time-to-progression predictions in multiple sclerosis. Computer Methods and Programs in Biomedicine, 263 108624, 1-23. doi: 10.1016/j.cmpb.2025.108624 |
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2025 Journal Article An fMRI dataset for appetite neural correlates in people living with Motor Neuron DiseaseChang, Jeryn, Lv, JingLei, Guo, Christine C., Lucia, Diana, Bollmann, Saskia, Garner, Kelly, McCombe, Pamela A., Henderson, Robert D., Shaw, Thomas B., Steyn, Frederik J. and Ngo, Shyuan T. (2025). An fMRI dataset for appetite neural correlates in people living with Motor Neuron Disease. Scientific Data, 12 (1) 466, 466. doi: 10.1038/s41597-025-04828-w |
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2025 Journal Article Appetite loss in patients with motor neuron disease: impact on weight loss and neural correlates of visual food cuesChang, Jeryn, Shaw, Thomas B., McCombe, Pamela A., Henderson, Robert D., Lucia, Diana, Guo, Christine C., Lv, Jinglei, Garner, Kelly, Bollmann, Saskia, Ngo, Shyuan T. and Steyn, Frederik J. (2025). Appetite loss in patients with motor neuron disease: impact on weight loss and neural correlates of visual food cues. Brain Communications, 7 (2) fcaf111, 1-14. doi: 10.1093/braincomms/fcaf111 |
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2025 Journal Article First-year treatment response predicts the following 5-year disease course in patients with relapsing-remitting multiple sclerosisToscano, Simona, Spelman, Tim, Ozakbas, Serkan, Alroughani, Raed, Chisari, Clara G., Lo Fermo, Salvatore, Prat, Alexandre, Girard, Marc, Duquette, Pierre, Izquierdo, Guillermo, Eichau, Sara, Grammond, Pierre, Boz, Cavit, Kalincik, Tomas, Blanco, Yolanda, Buzzard, Katherine, Skibina, Olga, Sa, Maria Jose, van der Walt, Anneke, Butzkueven, Helmut, Terzi, Murat, Gerlach, Oliver, Grand'Maison, Francois, Foschi, Matteo, Surcinelli, Andrea, Barnett, Michael, Lugaresi, Alessandra, Onofrj, Marco, Yamout, Bassem ... Patti, Francesco (2025). First-year treatment response predicts the following 5-year disease course in patients with relapsing-remitting multiple sclerosis. Neurotherapeutics, 22 (2) e00552, e00552. doi: 10.1016/j.neurot.2025.e00552 |
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2025 Journal Article Persistent high levels of perceived fatigue are not associated with hypermetabolism in patients with amyotrophic lateral sclerosisBuckett, Lauren E., Holdom, Cory J., Howe, Stephanie L., McCombe, Pamela A., Henderson, Robert D., Al-Chalabi, Ammar, Steyn, Frederik J. and Ngo, Shyuan T. (2025). Persistent high levels of perceived fatigue are not associated with hypermetabolism in patients with amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 26 (5-6), 485-494. doi: 10.1080/21678421.2025.2471429 |
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2025 Journal Article HLA typing in anti-GAD antibody associated epilepsyGillinder, Lisa, Powell, Tamara, Craig, Donald, Walsh, Stephen, Gillis, David and McCombe, Pamela (2025). HLA typing in anti-GAD antibody associated epilepsy. Epilepsy and Behavior, 163 110179, 110179. doi: 10.1016/j.yebeh.2024.110179 |
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2025 Journal Article Estimation of Transition Probabilities from a Large Cohort (> 6000) of Australians Living with Multiple Sclerosis (MS) for Changing Disability Severity Classifications, MS Phenotype, and Disease-Modifying Therapy ClassificationsCampbell, Julie A., Henson, Glen J., Ngwa, Valery Fuh, Ahmad, Hasnat, Taylor, Bruce V., van der Mei, Ingrid, Ramanathan, Sudarshini, Hardy, Todd A., Shaw, Cameron, Garber, Justin, Macdonell, Richard, McCombe, Pamela, John, Nevin, Hodgkinson, Suzanne, Walt, Anneke van der, Lechner-Scott, Jeannette, Roos, Izanne, Kalincik, Tomas, Carroll, William M., Fabis-Pedrini, Marzena, Kermode, Allan G., Butzkueven, Helmut and Palmer, Andrew J. (2025). Estimation of Transition Probabilities from a Large Cohort (> 6000) of Australians Living with Multiple Sclerosis (MS) for Changing Disability Severity Classifications, MS Phenotype, and Disease-Modifying Therapy Classifications. PharmacoEconomics, 43 (2) 102247, 223-239. doi: 10.1007/s40273-024-01417-4 |
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2025 Journal Article Investigating the frequency of neural autoantibodies in refractory focal epilepsyGillinder, Lisa, Craig, Donald, Powell, Tamara, Walsh, Stephen, Phamnguyen, John, Wilson, Ian, Chen, Xiaohua, Gillis, David and McCombe, Pamela (2025). Investigating the frequency of neural autoantibodies in refractory focal epilepsy. Seizure: European Journal of Epilepsy, 125, 73-78. doi: 10.1016/j.seizure.2025.01.007 |
