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2026

Journal Article

Maximal motor unit firing rates decline with amyotrophic lateral sclerosis progression

Fernandes, 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

Maximal motor unit firing rates decline with amyotrophic lateral sclerosis progression

2026

Journal Article

Preserving Neurological Function in People at High and Low Risk of Aggressive Multiple Sclerosis: An Observational Cohort Study

Roos, 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

Preserving Neurological Function in People at High and Low Risk of Aggressive Multiple Sclerosis: An Observational Cohort Study

2026

Journal Article

Complement dysregulation in multiple sclerosis: emerging mechanisms and translational therapeutic opportunities

Khan, 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

Complement dysregulation in multiple sclerosis: emerging mechanisms and translational therapeutic opportunities

2026

Journal Article

Large-scale exome analyses reveal new rare variant contributions in amyotrophic lateral sclerosis

Hop, 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

Large-scale exome analyses reveal new rare variant contributions in amyotrophic lateral sclerosis

2026

Journal Article

Review of the pathology of muscle in amyotrophic lateral sclerosis

Katz, 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

Review of the pathology of muscle in amyotrophic lateral sclerosis

2026

Journal Article

Haematopoietic stem cell transplant versus immune-reconstitution therapy in relapsing multiple sclerosis

Kalincik, 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

Haematopoietic stem cell transplant versus immune-reconstitution therapy in relapsing multiple sclerosis

2026

Journal Article

Systemic immune-metabolic interactions in patients with amyotrophic lateral sclerosis: correlations of plasma cytokines with metabolic status

Howe, 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

Systemic immune-metabolic interactions in patients with amyotrophic lateral sclerosis: correlations of plasma cytokines with metabolic status

2026

Journal Article

Autosomal recessive spastic ataxia of Charlevoix-Saguenay in two half-siblings

Yeow, 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

Autosomal recessive spastic ataxia of Charlevoix-Saguenay in two half-siblings

2026

Journal Article

Assessment of language and executive functions in ALS: the brief executive Language screen

Robinson, 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

Assessment of language and executive functions in ALS: the brief executive Language screen

2026

Journal Article

Moderate–high efficacy disease-modifying therapies reduce relapse risk in late-onset multiple sclerosis

Foong, 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

Moderate–high efficacy disease-modifying therapies reduce relapse risk in late-onset multiple sclerosis

2025

Journal Article

Real-world effectiveness of horizontal switching between disease-modifying therapies in multiple sclerosis: a retrospective analysis of the MSBase Registry

Gomez-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

Real-world effectiveness of horizontal switching between disease-modifying therapies in multiple sclerosis: a retrospective analysis of the MSBase Registry

2025

Journal Article

Corticosteroid treatment of multiple sclerosis relapses is associated with lower disability worsening over 5 years

Roberts, 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

Corticosteroid treatment of multiple sclerosis relapses is associated with lower disability worsening over 5 years

2025

Journal Article

Co-design and non-randomised pilot evaluation of resources developed to optimise saliva management in people with motor neurone disease

Taubert, 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

Co-design and non-randomised pilot evaluation of resources developed to optimise saliva management in people with motor neurone disease

2025

Journal Article

Epigenetic profiles of tissue informative CpGs inform ALS disease status and progression

Caggiano, 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

Epigenetic profiles of tissue informative CpGs inform ALS disease status and progression

2025

Journal Article

Menopause impact on multiple sclerosis disability progression

Bridge, 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

Menopause impact on multiple sclerosis disability progression

2025

Journal Article

Living with dysphagia and dysarthria: a qualitative exploration of the perspectives of people with motor neuron disease and their caregivers

Packer, 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

Living with dysphagia and dysarthria: a qualitative exploration of the perspectives of people with motor neuron disease and their caregivers

2025

Journal Article

MGBase: a global, observational registry for collaborative research in myasthenia gravis

Buzzard, 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

MGBase: a global, observational registry for collaborative research in myasthenia gravis

2025

Journal Article

Segmentation of the human tongue musculature using MRI: Field guide and validation in motor neuron disease

Shaw, 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

Segmentation of the human tongue musculature using MRI: Field guide and validation in motor neuron disease

2025

Journal Article

Applying high-density surface EMG to the study of neuromuscular disorders: a systematic review

Shandiz, 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

Applying high-density surface EMG to the study of neuromuscular disorders: a systematic review

2025

Journal Article

Personalized federated learning for predicting disability progression in multiple sclerosis using real-world routine clinical data

Pirmani, 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

Personalized federated learning for predicting disability progression in multiple sclerosis using real-world routine clinical data