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2023 Journal Article Early non-disabling relapses are important predictors of disability accumulation in people with relapsing-remitting multiple sclerosisDaruwalla, 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 |
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2023 Journal Article Comparative effectiveness of autologous hematopoietic stem cell transplant vs fingolimod, natalizumab, and ocrelizumab in highly active relapsing-remitting multiple sclerosisKalincik, 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 |
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2023 Journal Article Variability of the response to immunotherapy among subgroups of patients with multiple sclerosisDiouf, 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 |
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2023 Journal Article Sensitivity and specificity of the ECAS in identifying executive function and social cognition deficits in MNDTjokrowijoto, 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 |
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2023 Journal Article Comparative effectiveness in multiple sclerosis: a methodological comparisonRoos, 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 |
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2023 Journal Article Case report: Adult-onset limb girdle muscular dystrophy in sibling pair due to novel homozygous LAMA2 missense variantKatz, 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 |
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2023 Journal Article Muscle and its neuromuscular synapse – players in the pathogenesis of motor neuron diseaseNoakes, 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 |
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2023 Journal Article Phenotypic variability within the desminopathies: A case series of three patientsYeow, 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 |
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2023 Journal Article Heterogeneity on long-term disability trajectories in patients with secondary progressive MS: a latent class analysis from Big MS Data networkSignori, 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 |
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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 survivalNona, 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 |
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2022 Journal Article Sex differences in Guillain Barré syndrome, chronic inflammatory demyelinating polyradiculoneuropathy and experimental autoimmune neuritisMcCombe, 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 |
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2022 Journal Article Effect of immunotherapy on intracranial EEG in patients with seronegative autoimmune-associated epilepsyGillinder, 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 |
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2022 Journal Article Impact of methodological choices in comparative effectiveness studies: application in natalizumab versus fingolimod comparison among patients with multiple sclerosisLefort, 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 |
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2022 Journal Article Effects of biological sex and pregnancy in experimental autoimmune encephalomyelitis: It’s complicatedMcCombe, 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 |
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2022 Journal Article Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysisCabrera-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 |
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2022 Journal Article Lower hypothalamic volume with lower BMI is associated with shorter survival in patients with ALSChang, 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 |
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2022 Journal Article Disease reactivation after cessation of disease-modifying therapy in patients with relapsing-remitting multiple sclerosisRoos, 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 |
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2022 Journal Article Potential mechanisms to modify impaired glucose metabolism in neurodegenerative disordersMcDonald, 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 |
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2022 Journal Article Association of latitude and exposure to ultraviolet B radiation with severity of multiple sclerosis: An international registry studyVitkova, 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 |
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2022 Journal Article Confirmed disability progression as a marker of permanent disability in multiple sclerosisSharmin, 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 |
