|
2021 Journal Article Elevated levels of homocysteinesulfinic acid in the plasma of patients with amyotrophic lateral sclerosis: a potential source of excitotoxicity?Lee, Aven, Arachchige, Buddhika Jayakody, Henderson, Robert, Aylward, James and McCombe, Pamela Ann (2021). Elevated levels of homocysteinesulfinic acid in the plasma of patients with amyotrophic lateral sclerosis: a potential source of excitotoxicity?. Neurodegenerative Diseases, 20 (5-6), 200-206. doi: 10.1159/000517964 |
|
2021 Journal Article Natalizumab, Fingolimod, and Dimethyl Fumarate use and pregnancy-related relapse and disability in women with multiple sclerosisYeh, Wei Zhen, Widyastuti, Putu Ayu, Van der Walt, Anneke, Stankovich, Jim, Havrdova, Eva, Horakova, Dana, Vodehnalova, Karolina, Ozakbas, Serkan, Eichau, Sara, Duquette, Pierre, Kalincik, Tomas, Patti, Francesco, Boz, Cavit, Terzi, Murat, Yamout, Bassem I., Lechner-Scott, Jeannette, Sola, Patrizia, Skibina, Olga G., Barnett, Michael, Onofrj, Marco, Sá, Maria José, McCombe, Pamela Ann, Grammond, Pierre, Ampapa, Radek, Grand'Maison, Francois, Bergamaschi, Roberto, Spitaleri, Daniele L.A., Van Pesch, Vincent, Cartechini, Elisabetta ... Jokubaitis, Vilija G. (2021). Natalizumab, Fingolimod, and Dimethyl Fumarate use and pregnancy-related relapse and disability in women with multiple sclerosis. Neurology, 96 (24), E2989-E3002. doi: 10.1212/WNL.0000000000012084 |
|
2021 Journal Article Post-COVID opsoclonus myoclonus syndrome: a case report from PakistanIshaq, Hira, Durrani, Talha, Umar, Zainab, Khan, Nemat, McCombe, Pamela and Ul Haq, Mian Ayaz (2021). Post-COVID opsoclonus myoclonus syndrome: a case report from Pakistan. Frontiers in Neurology, 12 672524, 672524. doi: 10.3389/fneur.2021.672524 |
|
2021 Journal Article Polygenic risk score analysis for amyotrophic lateral sclerosis leveraging cognitive performance, educational attainment and schizophreniaRestuadi, Restuadi, Garton, Fleur C., Benyamin, Beben, Lin, Tian, Williams, Kelly L., Vinkhuyzen, Anna, van Rheenen, Wouter, Zhu, Zhihong, Laing, Nigel G., Mather, Karen A., Sachdev, Perminder S., Ngo, Shyuan T., Steyn, Frederik J., Wallace, Leanne, Henders, Anjali K., Visscher, Peter M., Needham, Merrilee, Mathers, Susan, Nicholson, Garth, Rowe, Dominic B., Henderson, Robert D., McCombe, Pamela A., Pamphlett, Roger, Blair, Ian P., Wray, Naomi R. and McRae, Allan F. (2021). Polygenic risk score analysis for amyotrophic lateral sclerosis leveraging cognitive performance, educational attainment and schizophrenia. European Journal of Human Genetics, 30 (5), 1-8. doi: 10.1038/s41431-021-00885-y |
|
2021 Journal Article Disability outcomes of early cerebellar and brainstem symptoms in multiple sclerosisLe, Minh, Malpas, Charles, Sharmin, Sifat, Horakova, Dana, Havrdova, Eva, Trojano, Maria, Izquierdo, Guillermo, Eichau, Sara, Ozakbas, Serkan, Lugaresi, Alessandra, Prat, Alexandre, Girard, Marc, Duquette, Pierre, Larochelle, Catherine, Alroughani, Raed, Bergamaschi, Roberto, Sola, Patrizia, Ferraro, Diana, Grammond, Pierre, Maison, Francois Grand', Terzi, Murat, Boz, Cavit, Hupperts, Raymond, Butzkueven, Helmut, Pucci, Eugenio, Granella, Franco, Van Pesch, Vincent, Soysal, Aysun, Yamout, Bassem ... Kalincik, Tomas (2021). Disability outcomes of early cerebellar and brainstem symptoms in multiple sclerosis. Multiple Sclerosis Journal, 27 (5) 1352458520926955, 755-766. doi: 10.1177/1352458520926955 |
|
2021 Journal Article Meta-analysis of genome-wide DNA methylation identifies shared associations across neurodegenerative disordersNabais, Marta F., Laws, Simon M., Lin, Tian, Vallerga, Costanza L., Armstrong, Nicola J., Blair, Ian P., Kwok, John B., Mather, Karen A., Mellick, George D., Sachdev, Perminder S., Wallace, Leanne, Henders, Anjali K., Zwamborn, Ramona A. J., Hop, Paul J., Lunnon, Katie, Pishva, Ehsan, Roubroeks, Janou A. Y., Soininen, Hilkka, Tsolaki, Magda, Mecocci, Patrizia, Lovestone, Simon, Kloszewska, Iwona, Vellas, Bruno, Furlong, Sarah, Garton, Fleur C., Henderson, Robert D., Mathers, Susan, McCombe, Pamela A., Needham, Merrilee ... McRae, Allan F. (2021). Meta-analysis of genome-wide DNA methylation identifies shared associations across neurodegenerative disorders. Genome Biology, 22 (1) 90, 1-30. doi: 10.1186/s13059-021-02275-5 |
|
2021 Journal Article An Australian state-based cohort study of autoimmune encephalitis cases detailing clinical presentation, investigation results, and response to therapySwayne, Andrew, Warren, Nicola, Prain, Kerri, Gillis, David, O'Gorman, Cullen, Tsang, Benjamin K-T., Muller, Claire, Broadley, Simon, Adam, Robert J., McCombe, Pamela, Wong, Richard C. and Blum, Stefan (2021). An Australian state-based cohort study of autoimmune encephalitis cases detailing clinical presentation, investigation results, and response to therapy. Frontiers in Neurology, 12 607773, 607773. doi: 10.3389/fneur.2021.607773 |
|
2021 Journal Article Effect of disease-modifying therapy on disability in relapsing-remitting multiple sclerosis over 15 yearsKalincik, Tomas, Diouf, Ibrahima, Sharmin, Sifat, Malpas, Charles, Spelman, Tim, Horakova, Dana, Havrdova, Eva Kubala, Trojano, Maria, Izquierdo, Guillermo, Lugaresi, Alessandra, Prat, Alexandre, Girard, Marc, Duquette, Pierre, Grammond, Pierre, Jokubaitis, Vilija, van der Walt, Anneke, Grand'Maison, Francois, Sola, Patrizia, Ferraro, Diana, Shaygannejad, Vahid, Alroughani, Raed, Hupperts, Raymond, Terzi, Murat, Boz, Cavit, Lechner-Scott, Jeannette, Pucci, Eugenio, Van Pesch, Vincent, Granella, Franco, Bergamaschi, Roberto ... Butzkueven, Helmut (2021). Effect of disease-modifying therapy on disability in relapsing-remitting multiple sclerosis over 15 years. Neurology, 96 (5), e783-e797. doi: 10.1212/WNL.0000000000011242 |
|
2021 Journal Article Treatment response score to glatiramer acetate or interferon beta-1aBovis, Francesca, Kalincik, Tomas, Lublin, Fred, Cutter, Gary, Malpas, Charles, Horakova, Dana, Havrdova, Eva Kubala, Trojano, Maria, Prat, Alexandre, Girard, Marc, Duquette, Pierre, Onofrj, Marco, Lugaresi, Alessandra, Izquierdo, Guillermo, Eichau, Sara, Patti, Francesco, Terzi, Murat, Grammond, Pierre, Bergamaschi, Roberto, Sola, Patrizia, Ferraro, Diana, Ozakbas, Serkan, Iuliano, Gerardo, Boz, Cavit, Hupperts, Raymond, Grand'Maison, Francois, Oreja-Guevara, Celia, van Pesch, Vincent, Cartechini, Elisabetta ... Sormani, Maria Pia (2021). Treatment response score to glatiramer acetate or interferon beta-1a. Neurology, 96 (2), e214-e227. doi: 10.1212/WNL.0000000000010991 |
|
2021 Journal Article Determinants of therapeutic lag in multiple sclerosisRoos, Izanne, Leray, Emmanuelle, Frascoli, Federico, Casey, Romain, Brown, J William L, Horakova, Dana, Havrdova, Eva Kubala, Debouverie, Marc, Trojano, Maria, Patti, Francesco, Izquierdo, Guillermo, Eichau, Sara, Edan, Gilles, Prat, Alexandre, Girard, Marc, Duquette, Pierre, Onofrj, Marco, Lugaresi, Alessandra, Grammond, Pierre, Ciron, Jonathan, Ruet, Aurélie, Ozakbas, Serkan, De Seze, Jérôme, Louapre, Céline, Zephir, Hélène, Sá, Maria José, Sola, Patrizia, Ferraro, Diana, Labauge, Pierre ... Kalincik, Tomas (2021). Determinants of therapeutic lag in multiple sclerosis. Multiple Sclerosis Journal, 27 (12) 1352458520981300, 1352458520981300-1851. doi: 10.1177/1352458520981300 |
|
2021 Journal Article Clinical and electrophysiological examination of pinch strength in patients with amyotrophic lateral sclerosisLee, John D., Heshmat, Saman, Heggie, Susan, Thorpe, Kathryn A., McCombe, Pamela A. and Henderson, Robert D. (2021). Clinical and electrophysiological examination of pinch strength in patients with amyotrophic lateral sclerosis. Muscle and Nerve, 63 (1) mus.27111, 108-113. doi: 10.1002/mus.27111 |
|
2021 Journal Article Prediction of multiple sclerosis outcomes when switching to ocrelizumabZhong, Michael, van der Walt, Anneke, Stankovich, Jim, Kalincik, Tomas, Buzzard, Katherine, Skibina, Olga, Boz, Cavit, Hodgkinson, Suzanne, Slee, Mark, Lechner-Scott, Jeannette, Macdonell, Richard, Prevost, Julie, Kuhle, Jens, Laureys, Guy, Van Hijfte, Liesbeth, Alroughani, Raed, Kermode, Allan G, Butler, Ernest, Barnett, Michael, Eichau, Sara, van Pesch, Vincent, Grammond, Pierre, McCombe, Pamela, Karabudak, Rana, Duquette, Pierre, Girard, Marc, Taylor, Bruce, Yeh, Wei, Monif, Mastura ... Jokubaitis, Vilija G (2021). Prediction of multiple sclerosis outcomes when switching to ocrelizumab. Multiple Sclerosis Journal, 28 (6) 13524585211049986, 958-969. doi: 10.1177/13524585211049986 |
|
2020 Journal Article A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunctionHildebrand, Joanne M., Kauppi, Maria, Majewski, Ian J., Liu, Zikou, Cox, Allison J., Miyake, Sanae, Petrie, Emma J., Silk, Michael A., Li, Zhixiu, Tanzer, Maria C., Brumatti, Gabriela, Young, Samuel N., Hall, Cathrine, Garnish, Sarah E., Corbin, Jason, Stutz, Michael D., Di Rago, Ladina, Gangatirkar, Pradnya, Josefsson, Emma C., Rigbye, Kristin, Anderton, Holly, Rickard, James A., Tripaydonis, Anne, Sheridan, Julie, Scerri, Thomas S., Jackson, Victoria E., Czabotar, Peter E., Zhang, Jian-Guo, Varghese, Leila ... Silke, John (2020). A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunction. Nature Communications, 11 (1) 3150, 3150. doi: 10.1038/s41467-020-16819-z |
|
2020 Journal Article Disorders of sleep and wakefulness in amyotrophic lateral sclerosis (ALS): a systematic reviewLucia, Diana, McCombe, Pamela A., Henderson, Robert D. and Ngo, Shyuan T. (2020). Disorders of sleep and wakefulness in amyotrophic lateral sclerosis (ALS): a systematic review. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 22 (3-4), 1-9. doi: 10.1080/21678421.2020.1844755 |
|
2020 Journal Article The spectrum of language impairments in amyotrophic lateral sclerosisCeslis, Amelia, Argall, Rosemary, Henderson, Robert D., McCombe, Pamela A. and Robinson, Gail A. (2020). The spectrum of language impairments in amyotrophic lateral sclerosis. Cortex, 132, 349-360. doi: 10.1016/j.cortex.2020.09.003 |
|
2020 Journal Article Elevated plasma levels of D-serine in some patients with amyotrophic lateral sclerosisLee, Aven, Arachchige, Buddhika Jayakody, Henderson, Robert, Pow, David, Reed, Sarah, Aylward, James and McCombe, Pamela Ann (2020). Elevated plasma levels of D-serine in some patients with amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 22 (3-4), 206-210. doi: 10.1080/21678421.2020.1832120 |
|
2020 Journal Article Genome-wide meta-analysis finds the ACSL5-ZDHHC6 locus is associated with ALS and links weight loss to the disease geneticsIacoangeli, Alfredo, Lin, Tian, Al Khleifat, Ahmad, Jones, Ashley R., Opie-Martin, Sarah, Coleman, Jonathan R.I., Shatunov, Aleksey, Sproviero, William, Williams, Kelly L., Garton, Fleur, Restuadi, Restuadi, Henders, Anjali K., Mather, Karen A., Needham, Merilee, Mathers, Susan, Nicholson, Garth A., Rowe, Dominic B., Henderson, Robert, McCombe, Pamela A., Pamphlett, Roger, Blair, Ian P., Schultz, David, Sachdev, Perminder S., Newhouse, Stephen J., Proitsi, Petroula, Fogh, Isabella, Ngo, Shyuan T., Dobson, Richard J.B., Wray, Naomi R. ... Al-Chalabi, Ammar (2020). Genome-wide meta-analysis finds the ACSL5-ZDHHC6 locus is associated with ALS and links weight loss to the disease genetics. Cell Reports, 33 (4) 108323, 1-9. doi: 10.1016/j.celrep.2020.108323 |
|
2020 Journal Article Altered skeletal muscle glucose-fatty acid flux in amyotrophic lateral sclerosisSteyn, Frederik J., Li, Rui, Kirk, Siobhan E., Tefera, Tesfaye W, Xie, Teresa Y., Tracey, Timothy J., Kelk, Dean, Wimberger, Elyse, Garton, Fleur C., Roberts, Llion, Chapman, Sarah E., Coombes, Jeff S., Leevy, W. Matthew, Ferri, Alberto, Valle, Cristiana, René, Frédérique, Loeffler, Jean-Philippe, McCombe, Pamela A., Henderson, Robert D. and Ngo, Shyuan T. (2020). Altered skeletal muscle glucose-fatty acid flux in amyotrophic lateral sclerosis. Brain Communications, 2 (2) fcaa154, fcaa154. doi: 10.1093/braincomms/fcaa154 |
|
2020 Journal Article Delay from treatment start to full effect of immunotherapies for multiple sclerosisRoos, Izanne, Leray, Emmanuelle, Frascoli, Federico, Casey, Romain, Brown, William J. L., Horakova, Dana, Havrdova, Eva K., Trojano, Maria, Patti, Francesco, Izquierdo, Guillermo, Eichau, Sara, Onofrj, Marco, Lugaresi, Alessandra, Prat, Alexandre, Girard, Marc, Grammond, Pierre, Sola, Patrizia, Ferraro, Diana, Ozakbas, Serkan, Bergamaschi, Roberto, Sá, Maria José, Cartechini, Elisabetta, Boz, Cavit, Granella, Franco, Hupperts, Raymond, Terzi, Murat, Lechner-Scott, Jeannette, Spitaleri, Daniele, van Pesch, Vincent ... Nifle, Chantal (2020). Delay from treatment start to full effect of immunotherapies for multiple sclerosis. Brain, 143 (9), 2742-2756. doi: 10.1093/brain/awaa231 |
|
2020 Journal Article What do we know about the variability in survival of patients with amyotrophic lateral sclerosis?McCombe, Pamela A., Garton, Fleur C., Katz, Matthew, Wray, Naomi R. and Henderson, Robert D. (2020). What do we know about the variability in survival of patients with amyotrophic lateral sclerosis?. Expert Review of Neurotherapeutics, 20 (9), 921-941. doi: 10.1080/14737175.2020.1785873 |
