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2021

Conference Publication

Real-world experience with cladribine tablets in the MSBase Registry (2942)

Butzkueven, Helmut, Spelman, Timothy, Hodgkinson, Suzanne, Kalincik, Tomas, Buzzard, Katherine, Skabina, Olga, Madueño, Sara Eichau, Ayuso, Guillermo Izquierdo, Van der Walt, Anneke, Grand-Maison, Francois, Butler, Ernest, Prevost, Julie, McCombe, Pamela, Oh, Jiwon, Macdonell, Richard, Lechner-Scott, Jeannette, Van Pesch, Vincent, Duquette, Pierre, Prat, Alexandre, Girard, Marc, Kermode, Allan and Fabris, Jessica (2021). Real-world experience with cladribine tablets in the MSBase Registry (2942). 2021 AAN 73rd Annual Meeting, Virtual, 17-22 April 2021. Philadelphia, PA USA: Wolters Kluwer Health. doi: 10.1212/wnl.96.15_supplement.2942

Real-world experience with cladribine tablets in the MSBase Registry (2942)

2021

Conference Publication

MRI patterns distinguish neuromyelitis optica spectrum disorder from multiple sclerosis

Clarke, Laura, Arnett, Simon, Bukhari, Wajih, Khalilidehkordi, Elham, Sanchez, Sofia Jimenez, O’Gorman, Cullen, Prain, Kerri, Woodhall, Mark, Silvestrini, Roger, Bundell, Christine, Abernethy, David, Bhuta, Sandeep, Blum, Stefan, Boggild, Mike, Boundy, Karyn, Brew, Bruce, Brownlee, Wallace, Butzkueven, Helmut, Carroll, William, Chen, Celia, Coulthard, Alan, Dale, Russell, Das, Chandi, Fabis-Pedrini, Marzena, Fulcher, David, Gillis, David, Hawke, Simon, Heard, Robert, Henderson, Andrew ... Broadley, Simon (2021). MRI patterns distinguish neuromyelitis optica spectrum disorder from multiple sclerosis. AAN 73rd Annual Meeting, Online, 17-22 April 2021. Philadelphia, PA United States: Wolters Kluwer. doi: 10.1212/wnl.96.15_supplement.4128

MRI patterns distinguish neuromyelitis optica spectrum disorder from multiple sclerosis

2021

Conference Publication

Variability of the Response to Immunotherapy Among Sub-groups of Patients With Multiple Sclerosis (4107)

Diouf, Ibrahima, Malpas, Charles, Horakova, Dana, Havrdova, Eva, Patti, Francesco, Shaygannejad, Vahid, Ozakbas, Serkan, Ayuso, Guillermo Izquierdo, Madueño, Sara Eichau, Zakaria, Magd, 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, Butzkueven, Helmut, Yamout, Bassem, Altintas, Ayse, Van Pesch, Vincent, Maimone, Davide ... Kalincik, Tomas (2021). Variability of the Response to Immunotherapy Among Sub-groups of Patients With Multiple Sclerosis (4107). AAN 73rd Annual Meeting, Online, 17-22 April 2021. Philadelphia, PA United States: Wolters Kluwer. doi: 10.1212/wnl.96.15_supplement.4107

Variability of the Response to Immunotherapy Among Sub-groups of Patients With Multiple Sclerosis (4107)

2021

Journal Article

Disability outcomes of early cerebellar and brainstem symptoms in multiple sclerosis

Le, 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

Disability outcomes of early cerebellar and brainstem symptoms in multiple sclerosis

2021

Journal Article

Meta-analysis of genome-wide DNA methylation identifies shared associations across neurodegenerative disorders

Nabais, 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

Meta-analysis of genome-wide DNA methylation identifies shared associations across neurodegenerative disorders

2021

Journal Article

An Australian state-based cohort study of autoimmune encephalitis cases detailing clinical presentation, investigation results, and response to therapy

Swayne, 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

An Australian state-based cohort study of autoimmune encephalitis cases detailing clinical presentation, investigation results, and response to therapy

2021

Journal Article

Effect of disease-modifying therapy on disability in relapsing-remitting multiple sclerosis over 15 years

Kalincik, 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

Effect of disease-modifying therapy on disability in relapsing-remitting multiple sclerosis over 15 years

2021

Journal Article

Treatment response score to glatiramer acetate or interferon beta-1a

Bovis, 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

Treatment response score to glatiramer acetate or interferon beta-1a

2021

Journal Article

Determinants of therapeutic lag in multiple sclerosis

Roos, 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

Determinants of therapeutic lag in multiple sclerosis

2021

Journal Article

Clinical and electrophysiological examination of pinch strength in patients with amyotrophic lateral sclerosis

Lee, 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

Clinical and electrophysiological examination of pinch strength in patients with amyotrophic lateral sclerosis

2021

Journal Article

Prediction of multiple sclerosis outcomes when switching to ocrelizumab

Zhong, 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

Prediction of multiple sclerosis outcomes when switching to ocrelizumab

2020

Journal Article

A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunction

Hildebrand, 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

A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunction

2020

Journal Article

Disorders of sleep and wakefulness in amyotrophic lateral sclerosis (ALS): a systematic review

Lucia, 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

Disorders of sleep and wakefulness in amyotrophic lateral sclerosis (ALS): a systematic review

2020

Journal Article

The spectrum of language impairments in amyotrophic lateral sclerosis

Ceslis, 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

The spectrum of language impairments in amyotrophic lateral sclerosis

2020

Journal Article

Elevated plasma levels of D-serine in some patients with amyotrophic lateral sclerosis

Lee, 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

Elevated plasma levels of D-serine in some patients with amyotrophic lateral sclerosis

2020

Journal Article

Genome-wide meta-analysis finds the ACSL5-ZDHHC6 locus is associated with ALS and links weight loss to the disease genetics

Iacoangeli, 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

Genome-wide meta-analysis finds the ACSL5-ZDHHC6 locus is associated with ALS and links weight loss to the disease genetics

2020

Journal Article

Altered skeletal muscle glucose-fatty acid flux in amyotrophic lateral sclerosis

Steyn, 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

Altered skeletal muscle glucose-fatty acid flux in amyotrophic lateral sclerosis

2020

Journal Article

Delay from treatment start to full effect of immunotherapies for multiple sclerosis

Roos, 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

Delay from treatment start to full effect of immunotherapies for multiple sclerosis

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

What do we know about the variability in survival of patients with amyotrophic lateral sclerosis?

2020

Journal Article

Reduced IκB-α protein levels in peripheral blood cells of patients with multiple sclerosis — a possible cause of constitutive NF-κB activation

Yan, Jun, McCombe, Pamela A., Pender, Michael P. and Greer, Judith M. (2020). Reduced IκB-α protein levels in peripheral blood cells of patients with multiple sclerosis — a possible cause of constitutive NF-κB activation. Journal of Clinical Medicine, 9 (8) 2534, 2534-13. doi: 10.3390/jcm9082534

Reduced IκB-α protein levels in peripheral blood cells of patients with multiple sclerosis — a possible cause of constitutive NF-κB activation