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2026 Journal Article Maximal motor unit firing rates decline with amyotrophic lateral sclerosis progressionFernandes, Gabriel L., Orssatto, Lucas B.R., Pinto, Matheus D., Henkin, Joao S., Shandiz, Ehsan, McCombe, Pamela A., Henderson, Robert D. and Trajano, Gabriel S. (2026). Maximal motor unit firing rates decline with amyotrophic lateral sclerosis progression. Clinical Neurophysiology, 185 2111697. doi: 10.1016/j.clinph.2026.2111697 |
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2026 Journal Article Preserving Neurological Function in People at High and Low Risk of Aggressive Multiple Sclerosis: An Observational Cohort StudyRoos, Izanne, Sharmin, Sifat, Ozakbas, Serkan, Alroughani, Raed, Eichau, Sara, Grand'maison, Francois, Boz, Cavit, Lechner-Scott, Jeannette, Buzzard, Katherine, Prat, Alexandre, Khoury, Samia J., Grammond, Pierre, Van Der Walt, Anneke, Blanco, Yolanda, Foschi, Matteo, Soysal, Aysun, Barnett, Michael, Prevost, Julie, Terzi, Murat, Gerlach, Oliver, Macdonell, Richard, Sa, Maria Jose, Spitaleri, Daniele, Laureys, Guy, Van Pesch, Vincent, John, Nevin, Cartechini, Elisabetta, Gouider, Riadh, Maimone, Davide ... Kalincik, Tomas (2026). Preserving Neurological Function in People at High and Low Risk of Aggressive Multiple Sclerosis: An Observational Cohort Study. Cns Drugs. doi: 10.1007/s40263-026-01287-8 |
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2026 Journal Article Complement dysregulation in multiple sclerosis: emerging mechanisms and translational therapeutic opportunitiesKhan, Nemat, Zakriya, Zikra M., McCombe, Pamela and Woodruff, Trent M. (2026). Complement dysregulation in multiple sclerosis: emerging mechanisms and translational therapeutic opportunities. Trends in Pharmacological Sciences, 47 (4), 355-368. doi: 10.1016/j.tips.2026.02.006 |
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2026 Journal Article Large-scale exome analyses reveal new rare variant contributions in amyotrophic lateral sclerosisHop, Paul J., Kooyman, Maarten, Kenna, Brendan J., Zwamborn, Ramona A. J., van Eijk, Kristel R., Wang, Yan, van Dijk, Charlotte H., Bekema, Erwin, van Rheenen, Wouter, Beele, Paul, van Vugt, Joke J. F. A., Al Khleifat, Ahmad, Iacoangeli, Alfredo, Cooper-Knock, Johnathan, Smith, Bradley N., Topp, Simon, van der Kooi, Anneke J., Fominykh, Vera, Drory, Vivian, Lerner, Yossef, Shovman, Yehuda, Rowe, Dominic B., Williams, Kelly L., McLaughlin, Russell L., Hurt, Jessica, Huang, Yunfeng, Chen, Chia-Yen, Tsai, Ellen, Runz, Heiko ... Veldink, Jan H. (2026). Large-scale exome analyses reveal new rare variant contributions in amyotrophic lateral sclerosis. Nature Genetics, 58 (4), 717-725. doi: 10.1038/s41588-026-02535-9 |
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2026 Journal Article Review of the pathology of muscle in amyotrophic lateral sclerosisKatz, Matthew, Robertson, Thomas, Ngo, Shyuan T., Yarlagadda, Sai, Henderson, Robert D., McCombe, Pamela A. and Noakes, Peter G. (2026). Review of the pathology of muscle in amyotrophic lateral sclerosis. International Journal of Molecular Sciences, 27 (6) 2802, 1-33. doi: 10.3390/ijms27062802 |
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2026 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 (2026). Haematopoietic stem cell transplant versus immune-reconstitution therapy in relapsing multiple sclerosis. Brain, 149 (3), 951-962. doi: 10.1093/brain/awaf286 |
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2026 Journal Article Systemic immune-metabolic interactions in patients with amyotrophic lateral sclerosis: correlations of plasma cytokines with metabolic statusHowe, Stephanie L., Holdom, Cory J., McCombe, Pamela A., Henderson, Robert D., Steyn, Frederik J. and Ngo, Shyuan T. (2026). Systemic immune-metabolic interactions in patients with amyotrophic lateral sclerosis: correlations of plasma cytokines with metabolic status. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 1-11. doi: 10.1080/21678421.2026.2627902 |
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2026 Journal Article Autosomal recessive spastic ataxia of Charlevoix-Saguenay in two half-siblingsYeow, Dennis, Katz, Matthew, Rodgers, Jonathan, Davis, Mark, Robertson, Thomas, Gardner, R. J. McKinlay and McCombe, Pamela A. (2026). Autosomal recessive spastic ataxia of Charlevoix-Saguenay in two half-siblings. Annals of Clinical and Translational Neurology, 13 (2) acn3.70236, 413-417. doi: 10.1002/acn3.70236 |
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2026 Journal Article Assessment of language and executive functions in ALS: the brief executive Language screenRobinson, Gail A., Phillips, Mia R., Horne, Kristina, Ceslis, Amelia, McCombe, Pamela A. and Henderson, Robert D. (2026). Assessment of language and executive functions in ALS: the brief executive Language screen. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 1-11. doi: 10.1080/21678421.2025.2607398 |
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2026 Journal Article Moderate–high efficacy disease-modifying therapies reduce relapse risk in late-onset multiple sclerosisFoong, Yi Chao, Merlo, Daniel, Gresle, Melissa, Buzzard, Katherine, Horakova, Dana, Havrdova, Eva Kubala, Kalincik, Tomas, Roos, Izanne, Hodgkinson, Suzanne, Lechner-Scott, Jeannette, Lugaresi, Alessandra, Weinstock-Guttman, Bianca, Ozakbas,, Serkan, Surcinelli, Andrea, Foschi, Matteo, Boz, Cavit, Khoury, Samia Joseph, Yamout, Bassem, Laureys, Guy, Blanco, Yolanda, Skibina, Olga, Kuhle, Jens, John, Nevin, Alroughani, Raed, Prevost, Julie, Van Pesch, Vincent, Tomassini, Valentina, Prat, Alexandre, Girard, Marc ... Study Group, MSBase (2026). Moderate–high efficacy disease-modifying therapies reduce relapse risk in late-onset multiple sclerosis. Journal of Neurology, Neurosurgery and Psychiatry, 97 (1) jnnp-2025-336513, 1-9. doi: 10.1136/jnnp-2025-336513 |
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2025 Journal Article Real-world effectiveness of horizontal switching between disease-modifying therapies in multiple sclerosis: a retrospective analysis of the MSBase RegistryGomez-Figueroa, Enrique, Orozco-Puga, Patricia, Corona-Vazquez, Cynthia Patricia, Moreno-Bernardino, Carlos, Elizabeth De La Mora-landin, Graciela, Jimenez-Ruiz, Amado, Garcia-Estrada, Christian, Zertuche-Ortuno, Lizeth, Saldivar-Davila, Sergio, Rodriguez-Rivas, Roberto, Bazan-Rodriguez, Lisette, Flores-Rivera, Jose, Kalincik, Tomas, Buzzard, Katherine, Khoury, Samia, Duquette, Pierre, Foschi, Matteo, Surcinelli, Andrea, Weinstock-Guttman, Bianca, Gouider, Riadh, Mrabet, Saloua, Lechner-Scott, Jeannette, Butzkueven, Helmut, Alroughani, Raed, Roos, Izanne, Patti, Francesco, Yamout, Bassem, Grand'maison, Francois, Spitaleri, Daniele ... Ruiz-Sandoval, Jose Luis (2025). Real-world effectiveness of horizontal switching between disease-modifying therapies in multiple sclerosis: a retrospective analysis of the MSBase Registry. Therapeutic Advances in Neurological Disorders, 18 17562864251399595. doi: 10.1177/17562864251399595 |
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2025 Journal Article Corticosteroid treatment of multiple sclerosis relapses is associated with lower disability worsening over 5 yearsRoberts, Jodie I, Sharmin, Sifat, Horakova, Dana, Kubala Havrdova, Eva, Ozakbas, Serkan, Lugaresi, Alessandra, Tomassini, Valentina, Alroughani, Raed, Buzzard, Katherine, Skibina, Olga, Boz, Cavit, Turkoglu, Recai, Maimone, Davide, Yamout, Bassem, Khoury, Samia Joseph, Spitaleri, Daniele, Lechner-Scott, Jeannette, Girard, Marc, Duquette, Pierre, Al-Asmi, Abdullah, Ampapa, Radek, Foschi, Matteo, Surcinelli, Andrea, Patti, Francesco, Van Pesch, Vincent, Ramo-Tello, Cristina, Sánchez-Menoyo, José Luis, Altintas, Ayse, Grammond, Pierre ... MSBase Study Group (2025). Corticosteroid treatment of multiple sclerosis relapses is associated with lower disability worsening over 5 years. Journal of Neurology, Neurosurgery and Psychiatry, 96 (12), 1-9. doi: 10.1136/jnnp-2025-336343 |
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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, Wishart, Laurelie, Kramer, Katrina 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, 1-14. 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, 1-20. doi: 10.1186/s13073-025-01542-5 |
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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), 1219-1226. 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 MGBase: a global, observational registry for collaborative research in myasthenia gravisBuzzard, Katherine A., Van der Walt, Anneke, Butzkueven, Helmut, Zhang, Wen Wen, Barnett-Tapia, Carolina, Cutter, Gary, Heckmann, Jeannine M., Farr, Pamela, Tran, Carolyn, Sartori, Charlotte, Stupar, Dusko, More, Rein, Sim, Linda, Le, Alison, Tang, Qingxiao, Reddel, Stephen W., Blum, Stefan (MGBase Study Group member), Lovas, Gabvor, McCombe, Pamela (MGBase Study Group member), Chroni, Elisabeth, Cruse, Belinda, Alroughani, Raed, Tzartos, John, Gomex-Figueroa, Enrique, Boz, Cavit, Karelis, Guntis, Kermode, Allan and Crump, Nicholas (2025). MGBase: a global, observational registry for collaborative research in myasthenia gravis. Muscle and Nerve, 72 (3), 424-432. doi: 10.1002/mus.28450 |
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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 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. doi: 10.1016/j.clinph.2025.2110983 |
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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. doi: 10.1038/s41746-025-01788-8 |