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811 results on '"McCombe, Pamela"'

1. A multi-centre longitudinal study analysing multiple sclerosis disease-modifying therapy prescribing patterns during the COVID-19 pandemic

Author

Lal, Anoushka P., Foong, Yi Chao, Sanfilippo, Paul G., Spelman, Tim, Rath, Louise, Levitz, David, Fabis-Pedrini, Marzena, Foschi, Matteo, Habek, Mario, Kalincik, Tomas, Roos, Izanne, Lechner-Scott, Jeannette, John, Nevin, Soysal, Aysun, D’Amico, Emanuele, Gouider, Riadh, Mrabet, Saloua, Gross-Paju, Katrin, Cárdenas-Robledo, Simón, Moghadasi, Abdorreza Naser, Sa, Maria Jose, Gray, Orla, Oh, Jiwon, Reddel, Stephen, Ramanathan, Sudarshini, Al-Harbi, Talal, Altintas, Ayse, Hardy, Todd A., Ozakbas, Serkan, Alroughani, Raed, Kermode, Allan G., Surcinelli, Andrea, Laureys, Guy, Eichau, Sara, Prat, Alexandre, Girard, Marc, Duquette, Pierre, Hodgkinson, Suzanne, Ramo-Tello, Cristina, Maimone, Davide, McCombe, Pamela, Spitaleri, Daniele, Sanchez-Menoyo, Jose Luis, Yetkin, Mehmet Fatih, Baghbanian, Seyed Mohammad, Karabudak, Rana, Al-Asmi, Abdullah, Jakob, Gregor Brecl, Khoury, Samia J., Etemadifar, Masoud, van Pesch, Vincent, Buzzard, Katherine, Taylor, Bruce, Butzkueven, Helmut, and Van der Walt, Anneke

Published
2024
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2. Examining the environmental risk factors of progressive-onset and relapsing-onset multiple sclerosis: recruitment challenges, potential bias, and statistical strategies

Author

Li, Ying, Saul, Alice, Taylor, Bruce, Ponsonby, Anne-Louise, Simpson-Yap, Steve, Blizzard, Leigh, Broadley, Simon, Lechner-Scott, Jeannette, Karabudak, Rana, Patti, Francesco, Eichau, Sara, Onofrj, Marco, Ozakbas, Serkan, Horakova, Dana, Kubala Havrdova, Eva, Grand’Maison, Francois, Alroughani, Raed, Gerlach, Oliver, Amato, Maria Pia, Altintas, Ayse, Girard, Marc, Duquette, Pierre, Blanco, Yolanda, Ramo-Tello, Cristina, Laureys, Guy, Kalincik, Tomas, Khoury, Samia J., Shaygannejad, Vahid, Etemadifar, Masoud, Singhal, Bhim, Mrabet, Saloua, Foschi, Matteo, Habek, Mario, John, Nevin, Hughes, Stella, McCombe, Pamela, Ampapa, Radek, van der Walt, Anneke, Butzkueven, Helmut, de Gans, Koen, McGuigan, Chris, Oreja-Guevara, Celia, Sa, Maria Jose, Petersen, Thor, Al-Harbi, Talal, Sempere, Angel Perez, Van Wijmeersch, Bart, Grigoriadis, Nikolaos, Prevost, Julie, Gray, Orla, Castillo-Triviño, Tamara, Macdonell, Richard, Lugaresi, Alessandra, Sajedi, Seyed Aidin, and van der Mei, Ingrid

Published
2024
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3. Functional characterisation of the amyotrophic lateral sclerosis risk locus GPX3/TNIP1

Author

Restuadi, Restuadi, Steyn, Frederik J, Kabashi, Edor, Ngo, Shyuan T, Cheng, Fei-Fei, Nabais, Marta F, Thompson, Mike J, Qi, Ting, Wu, Yang, Henders, Anjali K, Wallace, Leanne, Bye, Chris R, Turner, Bradley J, Ziser, Laura, Mathers, Susan, McCombe, Pamela A, Needham, Merrilee, Schultz, David, Kiernan, Matthew C, van Rheenen, Wouter, van den Berg, Leonard H, Veldink, Jan H, Ophoff, Roel, Gusev, Alexander, Zaitlen, Noah, McRae, Allan F, Henderson, Robert D, Wray, Naomi R, Giacomotto, Jean, and Garton, Fleur C

Subjects
Biological Sciences, Genetics, Rare Diseases, Neurosciences, Neurodegenerative, Biotechnology, Human Genome, Brain Disorders, ALS, 2.1 Biological and endogenous factors, Aetiology, Neurological, Amyotrophic Lateral Sclerosis, Animals, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Neurodegenerative Diseases, Polymorphism, Single Nucleotide, Zebrafish, Motor neurone disease, MND, Genome-wide association study, Computational biology, Neurodegenerative diseases, Quantitative trait loci, Genes, Regulator, Disease progression, Clinical Sciences
Abstract

BackgroundAmyotrophic lateral sclerosis (ALS) is a complex, late-onset, neurodegenerative disease with a genetic contribution to disease liability. Genome-wide association studies (GWAS) have identified ten risk loci to date, including the TNIP1/GPX3 locus on chromosome five. Given association analysis data alone cannot determine the most plausible risk gene for this locus, we undertook a comprehensive suite of in silico, in vivo and in vitro studies to address this.MethodsThe Functional Mapping and Annotation (FUMA) pipeline and five tools (conditional and joint analysis (GCTA-COJO), Stratified Linkage Disequilibrium Score Regression (S-LDSC), Polygenic Priority Scoring (PoPS), Summary-based Mendelian Randomisation (SMR-HEIDI) and transcriptome-wide association study (TWAS) analyses) were used to perform bioinformatic integration of GWAS data (Ncases = 20,806, Ncontrols = 59,804) with 'omics reference datasets including the blood (eQTLgen consortium N = 31,684) and brain (N = 2581). This was followed up by specific expression studies in ALS case-control cohorts (microarray Ntotal = 942, protein Ntotal = 300) and gene knockdown (KD) studies of human neuronal iPSC cells and zebrafish-morpholinos (MO).ResultsSMR analyses implicated both TNIP1 and GPX3 (p < 1.15 × 10-6), but there was no simple SNP/expression relationship. Integrating multiple datasets using PoPS supported GPX3 but not TNIP1. In vivo expression analyses from blood in ALS cases identified that lower GPX3 expression correlated with a more progressed disease (ALS functional rating score, p = 5.5 × 10-3, adjusted R2 = 0.042, Beffect = 27.4 ± 13.3 ng/ml/ALSFRS unit) with microarray and protein data suggesting lower expression with risk allele (recessive model p = 0.06, p = 0.02 respectively). Validation in vivo indicated gpx3 KD caused significant motor deficits in zebrafish-MO (mean difference vs. control ± 95% CI, vs. control, swim distance = 112 ± 28 mm, time = 1.29 ± 0.59 s, speed = 32.0 ± 2.53 mm/s, respectively, p for all

Published
2022

8. Polygenic risk score analysis for amyotrophic lateral sclerosis leveraging cognitive performance, educational attainment and schizophrenia

Author

Restuadi, 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.

Published
2022
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9. Routine CSF parameters as predictors of disease course in multiple sclerosis: an MSBase cohort study

Author

Dekeyser, Cathérine, primary, Hautekeete, Matthias, additional, Cambron, Melissa, additional, Van Pesch, Vincent, additional, Patti, Francesco, additional, Kuhle, Jens, additional, Khoury, Samia, additional, Lechner Scott, Jeanette, additional, Gerlach, Oliver, additional, Lugaresi, Alessandra, additional, Maimone, Davide, additional, Surcinelli, Andrea, additional, Grammond, Pierre, additional, Kalincik, Tomas, additional, Habek, Mario, additional, Willekens, Barbara, additional, Macdonell, Richard, additional, Lalive, Patrice, additional, Csepany, Tunde, additional, Butzkueven, Helmut, additional, Boz, Cavit, additional, Tomassini, Valentina, additional, Foschi, Matteo, additional, Sánchez-Menoyo, José Luis, additional, Altintas, Ayse, additional, Mrabet, Saloua, additional, Iuliano, Gerardo, additional, Sa, Maria Jose, additional, Alroughani, Raed, additional, Karabudak, Rana, additional, Aguera-Morales, Eduardo, additional, Gray, Orla, additional, de Gans, Koen, additional, van der Walt, Anneke, additional, McCombe, Pamela A, additional, Deri, Norma, additional, Garber, Justin, additional, Al-Asmi, Abdullah, additional, Skibina, Olga, additional, Duquette, Pierre, additional, Cartechini, Elisabetta, additional, Spitaleri, Daniele, additional, Gouider, Riadh, additional, Soysal, Aysun, additional, Van Hijfte, Liesbeth, additional, Slee, Mark, additional, Amato, Maria Pia, additional, Buzzard, Katherine, additional, and Laureys, Guy, additional

Published
2024
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11. General neurology: Current challenges and future implications

Author

Bassetti, Claudio Lino Alberto, primary, Accorroni, Alice, additional, Arnesen, Astri, additional, Basri, Hamidon Bin, additional, Berger, Thomas, additional, Berlit, Peter, additional, Boon, Paul, additional, Charway‐Felli, Augustina, additional, Kruja, Jera, additional, Lewis, Steven, additional, Markowski, Michael, additional, Medina, Marco Tulio, additional, McCombe, Pamela, additional, Moro, Elena, additional, Ozturk, Serefnur, additional, Smith, Paul, additional, and Vuletic, Vladimira, additional

Published
2024
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12. Variation in Resting Metabolic Rate Affects Identification of Metabolic Change in Geographically Distinct Cohorts of Patients With ALS

Author

Holdom, Cory J., primary, Janse van Mantgem, Mark R., additional, He, Ji, additional, Howe, Stephanie L., additional, McCombe, Pamela A., additional, Fan, Dongsheng, additional, van den Berg, Leonard H., additional, Henderson, Robert D., additional, van Eijk, Ruben, additional, Steyn, Frederik J., additional, and Ngo, Shyuan T., additional

Published
2024
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14. Impaired signaling for neuromuscular synaptic maintenance is a feature of Motor Neuron Disease

Author

Ding, Qiao, Kesavan, Kaamini, Lee, Kah Meng, Wimberger, Elyse, Robertson, Thomas, Gill, Melinder, Power, Dominique, Chang, Jeryn, Fard, Atefeh T., Mar, Jessica C., Henderson, Robert D., Heggie, Susan, McCombe, Pamela A., Jeffree, Rosalind L., Colditz, Michael J., Hilliard, Massimo A., Ng, Dominic C. H., Steyn, Frederik J., Phillips, William D., Wolvetang, Ernst J., Ngo, Shyuan T., and Noakes, Peter G.

Published
2022
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15. Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Author

van Rheenen, Wouter, van der Spek, Rick A. A., Bakker, Mark K., van Vugt, Joke J. F. A., Hop, Paul J., Zwamborn, Ramona A. J., de Klein, Niek, Westra, Harm-Jan, Bakker, Olivier B., Deelen, Patrick, Shireby, Gemma, Hannon, Eilis, Moisse, Matthieu, Baird, Denis, Restuadi, Restuadi, Dolzhenko, Egor, Dekker, Annelot M., Gawor, Klara, Westeneng, Henk-Jan, Tazelaar, Gijs H. P., van Eijk, Kristel R., Kooyman, Maarten, Byrne, Ross P., Doherty, Mark, Heverin, Mark, Al Khleifat, Ahmad, Iacoangeli, Alfredo, Shatunov, Aleksey, Ticozzi, Nicola, Cooper-Knock, Johnathan, Smith, Bradley N., Gromicho, Marta, Chandran, Siddharthan, Pal, Suvankar, Morrison, Karen E., Shaw, Pamela J., Hardy, John, Orrell, Richard W., Sendtner, Michael, Meyer, Thomas, Başak, Nazli, van der Kooi, Anneke J., Ratti, Antonia, Fogh, Isabella, Gellera, Cinzia, Lauria, Giuseppe, Corti, Stefania, Cereda, Cristina, Sproviero, Daisy, D’Alfonso, Sandra, Sorarù, Gianni, Siciliano, Gabriele, Filosto, Massimiliano, Padovani, Alessandro, Chiò, Adriano, Calvo, Andrea, Moglia, Cristina, Brunetti, Maura, Canosa, Antonio, Grassano, Maurizio, Beghi, Ettore, Pupillo, Elisabetta, Logroscino, Giancarlo, Nefussy, Beatrice, Osmanovic, Alma, Nordin, Angelica, Lerner, Yossef, Zabari, Michal, Gotkine, Marc, Baloh, Robert H., Bell, Shaughn, Vourc’h, Patrick, Corcia, Philippe, Couratier, Philippe, Millecamps, Stéphanie, Meininger, Vincent, Salachas, François, Mora Pardina, Jesus S., Assialioui, Abdelilah, Rojas-García, Ricardo, Dion, Patrick A., Ross, Jay P., Ludolph, Albert C., Weishaupt, Jochen H., Brenner, David, Freischmidt, Axel, Bensimon, Gilbert, Brice, Alexis, Durr, Alexandra, Payan, Christine A. M., Saker-Delye, Safa, Wood, Nicholas W., Topp, Simon, Rademakers, Rosa, Tittmann, Lukas, Lieb, Wolfgang, Franke, Andre, Ripke, Stephan, Braun, Alice, Kraft, Julia, Whiteman, David C., Olsen, Catherine M., Uitterlinden, Andre G., Hofman, Albert, Rietschel, Marcella, Cichon, Sven, Nöthen, Markus M., Amouyel, Philippe, Traynor, Bryan J., Singleton, Andrew B., Mitne Neto, Miguel, Cauchi, Ruben J., Ophoff, Roel A., Wiedau-Pazos, Martina, Lomen-Hoerth, Catherine, van Deerlin, Vivianna M., Grosskreutz, Julian, Roediger, Annekathrin, Gaur, Nayana, Jörk, Alexander, Barthel, Tabea, Theele, Erik, Ilse, Benjamin, Stubendorff, Beatrice, Witte, Otto W., Steinbach, Robert, Hübner, Christian A., Graff, Caroline, Brylev, Lev, Fominykh, Vera, Demeshonok, Vera, Ataulina, Anastasia, Rogelj, Boris, Koritnik, Blaž, Zidar, Janez, Ravnik-Glavač, Metka, Glavač, Damjan, Stević, Zorica, Drory, Vivian, Povedano, Monica, Blair, Ian P., Kiernan, Matthew C., Benyamin, Beben, Henderson, Robert D., Furlong, Sarah, Mathers, Susan, McCombe, Pamela A., Needham, Merrilee, Ngo, Shyuan T., Nicholson, Garth A., Pamphlett, Roger, Rowe, Dominic B., Steyn, Frederik J., Williams, Kelly L., Mather, Karen A., Sachdev, Perminder S., Henders, Anjali K., Wallace, Leanne, de Carvalho, Mamede, Pinto, Susana, Petri, Susanne, Weber, Markus, Rouleau, Guy A., Silani, Vincenzo, Curtis, Charles J., Breen, Gerome, Glass, Jonathan D., Brown, Jr., Robert H., Landers, John E., Shaw, Christopher E., Andersen, Peter M., Groen, Ewout J. N., van Es, Michael A., Pasterkamp, R. Jeroen, Fan, Dongsheng, Garton, Fleur C., McRae, Allan F., Davey Smith, George, Gaunt, Tom R., Eberle, Michael A., Mill, Jonathan, McLaughlin, Russell L., Hardiman, Orla, Kenna, Kevin P., Wray, Naomi R., Tsai, Ellen, Runz, Heiko, Franke, Lude, Al-Chalabi, Ammar, Van Damme, Philip, van den Berg, Leonard H., and Veldink, Jan H.

Published
2021
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16. Verbal and nonverbal fluency in amyotrophic lateral sclerosis.

Author

Barker, Megan S., Ceslis, Amelia, Argall, Rosemary, McCombe, Pamela, Henderson, Robert D., and Robinson, Gail A.

Subjects
AMYOTROPHIC lateral sclerosis, GESTURE
Abstract

Amyotrophic lateral sclerosis (ALS) is a multi‐system disorder that commonly affects cognition and behaviour. Verbal fluency impairments are consistently reported in ALS patients, and we aimed to investigate whether this deficit extends beyond the verbal domain. We further aimed to determine whether deficits are underpinned by a primary intrinsic response generation impairment (i.e., a global reduction across tasks), potentially related to apathy, or an inability to maintain responding over time (i.e., a 'drop off' pattern). Twenty‐two ALS patients and 21 demographically‐matched controls completed verbal and nonverbal fluency tasks (phonemic/semantic word fluency, design fluency, gesture fluency and ideational fluency), requiring the generation of responses over a specified time period. Fluency performance was analysed in terms of the overall number of novel items produced, as well as the number of items produced in the first 'initiation' and the remaining 'maintenance' time periods. ALS patients' overall performance was not globally reduced across tasks. Patients were impaired only on meaningful gesture fluency, which requires the generation of gestures that communicate meaning (e.g., waving). On phonemic fluency, ALS patients showed a 'drop off' pattern of performance, where they had difficulty maintaining responding over time, but this pattern was not evident on the other fluency tasks. Apathy did not appear to be related to fluency performance. The selective meaningful gesture fluency deficit, in the context of preserved meaningless gesture fluency, highlights that the retrieval of action knowledge may be weakened in early ALS. [ABSTRACT FROM AUTHOR]

Published
2024
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19. Vitamin D did not reduce multiple sclerosis disease activity after a clinically isolated syndrome

Author

Butzkueven, Helmut, primary, Ponsonby, Anne-Louise, additional, Stein, Mark S, additional, Lucas, Robyn M, additional, Mason, Deborah, additional, Broadley, Simon, additional, Kilpatrick, Trevor, additional, Lechner-Scott, Jeannette, additional, Barnett, Michael, additional, Carroll, William, additional, Mitchell, Peter, additional, Hardy, Todd A, additional, Macdonell, Richard, additional, McCombe, Pamela, additional, Lee, Andrew, additional, Kalincik, Tomas, additional, van der Walt, Anneke, additional, Lynch, Chris, additional, Abernethy, David, additional, Willoughby, Ernest, additional, Barkhof, Frederik, additional, MacManus, David, additional, Clarke, Michael, additional, Andrew, Julie, additional, Morahan, Julia, additional, Zhu, Chao, additional, Dear, Keith, additional, and Taylor, Bruce V, additional

Published
2023
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24. Vitamin D did not reduce multiple sclerosis disease activity after a clinically isolated syndrome.

Author

Butzkueven, Helmut, Ponsonby, Anne-Louise, Stein, Mark S, Lucas, Robyn M, Mason, Deborah, Broadley, Simon, Kilpatrick, Trevor, Lechner-Scott, Jeannette, Barnett, Michael, Carroll, William, Mitchell, Peter, Hardy, Todd A, Macdonell, Richard, McCombe, Pamela, Lee, Andrew, Kalincik, Tomas, van der Walt, Anneke, Lynch, Chris, Abernethy, David, and Willoughby, Ernest

Subjects
MULTIPLE sclerosis, DIETARY supplements, VITAMINS, VITAMIN D, DISEASE relapse
Abstract

Low serum levels of 25-hydroxyvitamin D [25(OH)D] and low sunlight exposure are known risk factors for the development of multiple sclerosis. Add-on vitamin D supplementation trials in established multiple sclerosis have been inconclusive. The effects of vitamin D supplementation to prevent multiple sclerosis is unknown. We aimed to test the hypothesis that oral vitamin D3 supplementation in high-risk clinically isolated syndrome (abnormal MRI, at least three T2 brain and/or spinal cord lesions), delays time to conversion to definite multiple sclerosis, that the therapeutic effect is dose-dependent, and that all doses are safe and well tolerated. We conducted a double-blind trial in Australia and New Zealand. Eligible participants were randomized 1:1:1:1 to placebo, 1000, 5000 or 10 000 international units (IU) of oral vitamin D3 daily within each study centre (n = 23) and followed for up to 48 weeks. Between 2013 and 2021, we enrolled 204 participants. Brain MRI scans were performed at baseline, 24 and 48 weeks. The main study outcome was conversion to clinically definite multiple sclerosis based on the 2010 McDonald criteria defined as either a clinical relapse or new brain MRI T2 lesion development. We included 199 cases in the intention-to-treat analysis based on assigned dose. Of these, 116 converted to multiple sclerosis by 48 weeks (58%). Compared to placebo, the hazard ratios (95% confidence interval) for conversion were 1000 IU 0.87 (0.50, 1.50); 5000 IU 1.37 (0.82, 2.29); and 10 000 IU 1.28 (0.76, 2.14). In an adjusted model including age, sex, latitude, study centre and baseline symptom number, clinically isolated syndrome onset site, presence of infratentorial lesions and use of steroids, the hazard ratios (versus placebo) were 1000 IU 0.80 (0.45, 1.44); 5000 IU 1.36 (0.78, 2.38); and 10 000 IU 1.07 (0.62, 1.85). Vitamin D3 supplementation was safe and well tolerated. We did not demonstrate reduction in multiple sclerosis disease activity by vitamin D3 supplementation after a high-risk clinically isolated syndrome. [ABSTRACT FROM AUTHOR]

Published
2024
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25. Comparative efficacy of ofatumumab versus oral therapies for relapsing multiple sclerosis patients using propensity score analyses and simulated treatment comparisons.

Author

Riley, Nicholas, Drudge, Christopher, Nelson, Morag, Haltner, Anja, Barnett, Michael, Broadley, Simon, Butzkueven, Helmut, McCombe, Pamela, Van der Walt, Anneke, Wong, Erin O. Y., Merschhemke, Martin, Adlard, Nicholas, Walker, Rob, and Samjoo, Imtiaz A.

Subjects
MULTIPLE sclerosis treatment, MONOCLONAL antibodies, FINGOLIMOD, DISEASE progression, CLINICAL trials
Abstract

Background: Evidence from network meta-analyses (NMAs) and real-world propensity score (PS) analyses suggest monoclonal antibodies (mAbs) offer a therapeutic advantage over currently available oral therapies and, therefore, warrant consideration as a distinct group of high-efficacy disease-modifying therapies (DMTs) for patients with relapsing multiple sclerosis (RMS). This is counter to the current perception of these therapies by some stakeholders, including payers. Objectives: A multifaceted indirect treatment comparison (ITC) approach was undertaken to clarify the relative efficacy of mAbs and oral therapies. Design: Two ITC methods that use individual patient data (IPD) to adjust for between-trial differences, PS analyses and simulated treatment comparisons (STCs), were used to compare the mAb ofatumumab versus the oral therapies cladribine, fingolimod, and ozanimod. Data sources and methods: As IPD were available for trials of ofatumumab and fingolimod, PS analyses were conducted. Given summary-level data were available for cladribine, fingolimod, and ozanimod trials, STCs were conducted between ofatumumab and each of these oral therapies. Three efficacy outcomes were compared: annualized relapse rate (ARR), 3-month confirmed disability progression (3mCDP), and 6-month CDP (6mCDP). Results: The PS analyses demonstrated ofatumumab was statistically superior to fingolimod for ARR and time to 3mCDP but not time to 6mCDP. In STCs, ofatumumab was statistically superior in reducing ARR and decreasing the proportion of patients with 3mCDP compared with cladribine, fingolimod, and ozanimod and in decreasing the proportion with 6mCP compared with fingolimod and ozanimod. These findings were largely consistent with recently published NMAs that identified mAb therapies as the most efficacious DMTs for RMS. Conclusion: Complementary ITC methods showed ofatumumab was superior to cladribine, fingolimod, and ozanimod in lowering relapse rates and delaying disability progression among patients with RMS. Our study supports the therapeutic superiority of mAbs over currently available oral DMTs for RMS and the delineation of mAbs as high-efficacy therapies. [ABSTRACT FROM AUTHOR]

Published
2024
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30. 2723 Secondary progressive multiple sclerosis patients in Australia treated with siponimod; novel real-world evidence from the MSGo digital support program

Author

Hardy, Todd, primary, Aouad, Patrick, additional, Barnett, Michael, additional, Blum, Stefan, additional, Broadley, Simon, additional, Carroll, William, additional, Crimmins, Denis, additional, Griffiths, Dayna, additional, Hodgkinson, Suzanne, additional, Lechner-Scott, Jeannette, additional, Lee, Andrew, additional, Malhotra, Ram, additional, McCombe, Pamela, additional, Parratt, John, additional, Plummer, Christopher, additional, Walt, Anneke van der, additional, Martel, Kate, additional, and Walker, Rob, additional

Published
2023
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32. The clinical profile of NMOSD in Australia and New Zealand

Author

Bukhari, Wajih, Clarke, Laura, O’Gorman, Cullen, Khalilidehkordi, Elham, Arnett, Simon, Prain, Kerri M., Woodhall, Mark, Silvestrini, Roger, Bundell, Christine S., Ramanathan, Sudarshini, Abernethy, David, Bhuta, Sandeep, Blum, Stefan, Boggild, Mike, Boundy, Karyn, Brew, Bruce J., Brownlee, Wallace, Butzkueven, Helmut, Carroll, William M., Chen, Celia, Coulthard, Alan, Dale, Russell C., Das, Chandi, Dear, Keith, Fabis-Pedrini, Marzena J., Fulcher, David, Gillis, David, Hawke, Simon, Heard, Robert, Henderson, Andrew P. D., Heshmat, Saman, Hodgkinson, Suzanne, Jimenez-Sanchez, Sofia, Kilpatrick, Trevor J., King, John, Kneebone, Chris, Kornberg, Andrew J., Lechner-Scott, Jeannette, Lin, Ming-Wei, Lynch, Christopher, Macdonnell, Richard A. L., Mason, Deborah F., McCombe, Pamela A., Pereira, Jennifer, Pollard, John D., Reddel, Stephen W., Shaw, Cameron, Spies, Judith, Stankovich, James, Sutton, Ian, Vucic, Steve, Walsh, Michael, Wong, Richard C., Yiu, Eppie M., Barnett, Michael H., Kermode, Allan G., Marriott, Mark P., Parratt, John, Slee, Mark, Taylor, Bruce V., Willoughby, Ernest, Wilson, Robert J., Brilot, Fabienne, Vincent, Angela, Waters, Patrick, and Broadley, Simon A.

Published
2020
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33. Incidence of pregnancy and disease-modifying therapy exposure trends in women with multiple sclerosis: A contemporary cohort study

Author

Nguyen, Ai-Lan, Havrdova, Eva Kubala, Horakova, Dana, Izquierdo, Guillermo, Kalincik, Tomas, van der Walt, Anneke, Terzi, Murat, Alroughani, Raed, Duquette, Pierre, Girard, Marc, Prat, Alexandre, Boz, Cavit, Sola, Patrizia, Ferraro, Diana, Lugaresi, Alessandra, Lechner-Scott, Jeannette, Barnett, Michael, Grand'Maison, Francois, Grammond, Pierre, Ramo-Tello, Cristina, Turkoglu, Recai, McCombe, Pamela, Pucci, Eugenio, Trojano, Maria, Granella, Franco, Spitaleri, Daniele, Van Pesch, Vincent, Soysal, Aysun, Oreja-Guevara, Celia, Verheul, Freek, Vucic, Steve, Hodgkinson, Suzanne, Slee, Mark, Ampapa, Radek, Prevost, Julie, Menoyo, Jose Luis Sanchez, Skibina, Olga, Solaro, Claudio, Olascoaga, Javier, Shaw, Cameron, Madsen, Klaus Gregaard, Naidoo, Kerisha, Hyde, Robert, Butzkueven, Helmut, and Jokubaitis, Vilija

Published
2019
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35. Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Author

van Rheenen, Wouter, van der Spek, Rick A. A., Bakker, Mark K., van Vugt, Joke J. F. A., Hop, Paul J., Zwamborn, Ramona A. J., de Klein, Niek, Westra, Harm-Jan, Bakker, Olivier B., Deelen, Patrick, Shireby, Gemma, Hannon, Eilis, Moisse, Matthieu, Baird, Denis, Restuadi, Restuadi, Dolzhenko, Egor, Dekker, Annelot M., Gawor, Klara, Westeneng, Henk-Jan, Tazelaar, Gijs H. P., van Eijk, Kristel R., Kooyman, Maarten, Byrne, Ross P., Doherty, Mark, Heverin, Mark, Al Khleifat, Ahmad, Iacoangeli, Alfredo, Shatunov, Aleksey, Ticozzi, Nicola, Cooper-Knock, Johnathan, Smith, Bradley N., Gromicho, Marta, Chandran, Siddharthan, Pal, Suvankar, Morrison, Karen E., Shaw, Pamela J., Hardy, John, Orrell, Richard W., Sendtner, Michael, Meyer, Thomas, Başak, Nazli, van der Kooi, Anneke J., Ratti, Antonia, Fogh, Isabella, Gellera, Cinzia, Lauria, Giuseppe, Corti, Stefania, Cereda, Cristina, Sproviero, Daisy, D’Alfonso, Sandra, Sorarù, Gianni, Siciliano, Gabriele, Filosto, Massimiliano, Padovani, Alessandro, Chiò, Adriano, Calvo, Andrea, Moglia, Cristina, Brunetti, Maura, Canosa, Antonio, Grassano, Maurizio, Beghi, Ettore, Pupillo, Elisabetta, Logroscino, Giancarlo, Nefussy, Beatrice, Osmanovic, Alma, Nordin, Angelica, Lerner, Yossef, Zabari, Michal, Gotkine, Marc, Baloh, Robert H., Bell, Shaughn, Vourc’h, Patrick, Corcia, Philippe, Couratier, Philippe, Millecamps, Stéphanie, Meininger, Vincent, Salachas, François, Mora Pardina, Jesus S., Assialioui, Abdelilah, Rojas-García, Ricardo, Dion, Patrick A., Ross, Jay P., Ludolph, Albert C., Weishaupt, Jochen H., Brenner, David, Freischmidt, Axel, Bensimon, Gilbert, Brice, Alexis, Durr, Alexandra, Payan, Christine A. M., Saker-Delye, Safa, Wood, Nicholas W., Topp, Simon, Rademakers, Rosa, Tittmann, Lukas, Lieb, Wolfgang, Franke, Andre, Ripke, Stephan, Braun, Alice, Kraft, Julia, Whiteman, David C., Olsen, Catherine M., Uitterlinden, Andre G., Hofman, Albert, Rietschel, Marcella, Cichon, Sven, Nöthen, Markus M., Amouyel, Philippe, Traynor, Bryan J., Singleton, Andrew B., Mitne Neto, Miguel, Cauchi, Ruben J., Ophoff, Roel A., Wiedau-Pazos, Martina, Lomen-Hoerth, Catherine, van Deerlin, Vivianna M., Grosskreutz, Julian, Roediger, Annekathrin, Gaur, Nayana, Jörk, Alexander, Barthel, Tabea, Theele, Erik, Ilse, Benjamin, Stubendorff, Beatrice, Witte, Otto W., Steinbach, Robert, Hübner, Christian A., Graff, Caroline, Brylev, Lev, Fominykh, Vera, Demeshonok, Vera, Ataulina, Anastasia, Rogelj, Boris, Koritnik, Blaž, Zidar, Janez, Ravnik-Glavač, Metka, Glavač, Damjan, Stević, Zorica, Drory, Vivian, Povedano, Monica, Blair, Ian P., Kiernan, Matthew C., Benyamin, Beben, Henderson, Robert D., Furlong, Sarah, Mathers, Susan, McCombe, Pamela A., Needham, Merrilee, Ngo, Shyuan T., Nicholson, Garth A., Pamphlett, Roger, Rowe, Dominic B., Steyn, Frederik J., Williams, Kelly L., Mather, Karen A., Sachdev, Perminder S., Henders, Anjali K., Wallace, Leanne, de Carvalho, Mamede, Pinto, Susana, Petri, Susanne, Weber, Markus, Rouleau, Guy A., Silani, Vincenzo, Curtis, Charles J., Breen, Gerome, Glass, Jonathan D., Brown, Jr., Robert H., Landers, John E., Shaw, Christopher E., Andersen, Peter M., Groen, Ewout J. N., van Es, Michael A., Pasterkamp, R. Jeroen, Fan, Dongsheng, Garton, Fleur C., McRae, Allan F., Davey Smith, George, Gaunt, Tom R., Eberle, Michael A., Mill, Jonathan, McLaughlin, Russell L., Hardiman, Orla, Kenna, Kevin P., Wray, Naomi R., Tsai, Ellen, Runz, Heiko, Franke, Lude, Al-Chalabi, Ammar, Van Damme, Philip, van den Berg, Leonard H., and Veldink, Jan H.

Published
2022
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36. Effect of Disease Modifying Therapy on Disability in Relapsing-Remitting Multiple Sclerosis Over 15 Years

Author

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, GrandʼMaison, 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, Spitaleri, Daniele, Slee, Mark, Vucic, Steve, Ampapa, Radek, McCombe, Pamela, Ramo-Tello, Cristina, Prevost, Julie, Olascoaga, Javier, Cristiano, Edgardo, Barnett, Michael, Saladino, Maria Laura, Sanchez-Menoyo, Jose Luis, Hodgkinson, Suzanne, Rozsa, Csilla, Hughes, Stella, Moore, Fraser, Shaw, Cameron, Butler, Ernest, Skibina, Olga, Gray, Orla, Kermode, Allan, Csepany, Tunde, Singhal, Bhim, Shuey, Neil, Piroska, Imre, Taylor, Bruce, Simo, Magdolna, Sirbu, Carmen-Adella, Sas, Attila, and Butzkueven, Helmut

Published
2020
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37. Associations of postprandial ghrelin, liver‐expressed antimicrobial peptide 2 and leptin levels with body composition, disease progression and survival in patients with amyotrophic lateral sclerosis.

Author

Howe, Stephanie L., Holdom, Cory J., McCombe, Pamela A., Henderson, Robert D., Zigman, Jeffrey M., Ngo, Shyuan T., and Steyn, Frederik J.

Subjects
ANTIMICROBIAL peptides, AMYOTROPHIC lateral sclerosis, GHRELIN, BODY composition, OVERALL survival
Abstract

Background and purpose: Loss of appetite contributes to weight loss and faster disease progression in amyotrophic lateral sclerosis (ALS). Impairment of appetite control in ALS may include altered production or action of orexigenic (i.e., ghrelin) and anorexigenic (i.e., liver‐expressed antimicrobial peptide 2 [LEAP2] and leptin) hormones. We aimed to determine if postprandial circulating ghrelin levels, LEAP2 levels, LEAP2:ghrelin molar ratio and leptin levels differ in ALS patients compared to non‐neurodegenerative disease controls, and whether they are associated with disease progression and body composition. Methods: In this prospective natural history study, we assessed postprandial plasma levels of ghrelin, LEAP2 and leptin in patients with ALS (cases; n = 46) and controls (controls; n = 43). For cases, measures were compared to changes in body weight, body composition and clinical outcomes. Results: Postprandial ghrelin level was decreased by 52% in cases compared to controls (p = 0.013). LEAP2:ghrelin molar ratio was increased by 249% (p = 0.009), suggesting greater ghrelin resistance. Patients with lower LEAP2:ghrelin tended to have better functional capacity at assessment, as inferred by the ALS Functional Rating Scale‐Revised (τ = −0.179, p = 0.086). Furthermore, ghrelin and LEAP2:ghrelin molar ratio correlated with diagnostic delay (ghrelin, τ = 0.223, p = 0.029; LEAP2:ghrelin, τ = −0.213, p = 0.037). Baseline ghrelin level, LEAP2 level, LEAP2:ghrelin ratio and leptin level were, however, not predictive of change in functional capacity during follow‐up. Also, patients with higher postprandial ghrelin levels (hazard ratio [HR] 1.375, p = 0.048), and lower LEAP2:ghelin ratios (HR 0.828, p = 0.051) had an increased risk of earlier death. Conclusions: Reduced postprandial ghrelin levels, coupled with increased LEAP2:ghrelin molar ratios, suggests a loss of ghrelin action in patients with ALS. Given ghrelin's actions on appetite, metabolism and neuroprotection, reduced ghrelin and greater ghrelin resistance could contribute to impaired capacity to tolerate the physiological impact of disease. Comprehensive studies are needed to explain how ghrelin and LEAP2 contribute to body weight regulation and disease progression in ALS. [ABSTRACT FROM AUTHOR]

Published
2024
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38. The risk of secondary progressive multiple sclerosis is geographically determined but modifiable

Author

Sharmin, Sifat, primary, Roos, Izanne, additional, Simpson-Yap, Steve, additional, Malpas, Charles, additional, Sánchez, Marina M, additional, Ozakbas, Serkan, additional, Horakova, Dana, additional, Havrdova, Eva K, additional, Patti, Francesco, additional, Alroughani, Raed, additional, Izquierdo, Guillermo, additional, Eichau, Sara, additional, Boz, Cavit, additional, Zakaria, Magd, additional, Onofrj, Marco, additional, Lugaresi, Alessandra, additional, Weinstock-Guttman, Bianca, additional, Prat, Alexandre, additional, Girard, Marc, additional, Duquette, Pierre, additional, Terzi, Murat, additional, Amato, Maria Pia, additional, Karabudak, Rana, additional, Grand’Maison, Francois, additional, Khoury, Samia J, additional, Grammond, Pierre, additional, Lechner-Scott, Jeannette, additional, Buzzard, Katherine, additional, Skibina, Olga, additional, van der Walt, Anneke, additional, Butzkueven, Helmut, additional, Turkoglu, Recai, additional, Altintas, Ayse, additional, Maimone, Davide, additional, Kermode, Allan, additional, Shalaby, Nevin, additional, Pesch, Vincent V, additional, Butler, Ernest, additional, Sidhom, Youssef, additional, Gouider, Riadh, additional, Mrabet, Saloua, additional, Gerlach, Oliver, additional, Soysal, Aysun, additional, Barnett, Michael, additional, Kuhle, Jens, additional, Hughes, Stella, additional, Sa, Maria J, additional, Hodgkinson, Suzanne, additional, Oreja-Guevara, Celia, additional, Ampapa, Radek, additional, Petersen, Thor, additional, Ramo-Tello, Cristina, additional, Spitaleri, Daniele, additional, McCombe, Pamela, additional, Taylor, Bruce, additional, Prevost, Julie, additional, Foschi, Matteo, additional, Slee, Mark, additional, McGuigan, Chris, additional, Laureys, Guy, additional, Hijfte, Liesbeth V, additional, de Gans, Koen, additional, Solaro, Claudio, additional, Oh, Jiwon, additional, Macdonell, Richard, additional, Aguera-Morales, Eduardo, additional, Singhal, Bhim, additional, Gray, Orla, additional, Garber, Justin, additional, Wijmeersch, Bart V, additional, Simu, Mihaela, additional, Castillo-Triviño, Tamara, additional, Sanchez-Menoyo, Jose L, additional, Khurana, Dheeraj, additional, Al-Asmi, Abdullah, additional, Al-Harbi, Talal, additional, Deri, Norma, additional, Fragoso, Yara, additional, Lalive, Patrice H, additional, Sinnige, L G F, additional, Shaw, Cameron, additional, Shuey, Neil, additional, Csepany, Tunde, additional, Sempere, Angel P, additional, Moore, Fraser, additional, Decoo, Danny, additional, Willekens, Barbara, additional, Gobbi, Claudio, additional, Massey, Jennifer, additional, Hardy, Todd, additional, Parratt, John, additional, and Kalincik, Tomas, additional

Published
2023
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40. List of Contributors

Author

Abramson, Jakub, primary, Ahmed, S. Sohail, additional, Alba, Marco A., additional, Ali, Youssif M., additional, Ambrus, Julian L., additional, Andersson Svärd, Agnes, additional, Aringer, Martin, additional, Assassi, Shervin, additional, Aung, Thanda, additional, Ayzenberg, Ilya, additional, Barker, Robert N., additional, Baxter, Alan G., additional, Betterle, Corrado, additional, Birlea, Stanca A., additional, Björkström, Niklas K., additional, Blair, Paul A., additional, Blüml, Stephan, additional, Bosch, Xavier, additional, Brodsky, Robert A., additional, Bryceson, Yenan T., additional, Burkett, Patrick R., additional, Bussel, James B., additional, Caricchio, Roberto, additional, Casciola-Rosen, Livia, additional, Caturegli, Patrizio, additional, Chaigne-Delalande, Benjamin, additional, Chalan, Paulina, additional, Chatenoud, Lucienne, additional, Cohen, Philip L., additional, Cooper, Megan A., additional, Coppieters, Ken, additional, Crystal, Ronald G., additional, Culton, Donna A., additional, Damato, Valentina, additional, Davidson, Anne, additional, Delfino, Lorenzo, additional, Delves, Peter J., additional, Di Dalmazi, Giulia, additional, Diamond, Betty, additional, Diaz, Luis A., additional, Falk, Ronald J., additional, Fritzler, Marvin J., additional, Gallucci, Stefania, additional, Gangaputra, Sapna, additional, Gelbman, Brian, additional, Gershwin, M. Eric, additional, Gery, Igal, additional, Getts, Daniel R., additional, Gold, Ralf, additional, Goldfarb, Yael, additional, Gong, Jing, additional, Gordon, Siamon, additional, Goronzy, Jörg J., additional, Greer, Judith M., additional, Guazzone, Vanesa A., additional, Guilherme, Luiza, additional, Hafler, David A., additional, Hahn, Bevra H., additional, Hamad, Abdel Rahim A., additional, Hamano, Hideaki, additional, Harrison, Leonard C., additional, Homann, Dirk, additional, Husebye, Eystein S., additional, Jennette, J. Charles, additional, Jones, Richard J., additional, Jordan, Margaret A., additional, Kalil, Jorge, additional, Kawa, Shigeyuki, additional, Kaya, Ziya, additional, Keller, Christian W., additional, King, Nicholas J.C., additional, Kitcharoensakkul, Maleewan, additional, Kiyosawa, Kendo, additional, Königs, Christoph, additional, Kronenberg, Mitchell, additional, Kuchroo, Vijay K., additional, Laurence, Arian, additional, Lee, Eun-Ju, additional, Lehmann, Helmar C., additional, Lernmark, Åke, additional, Lindbladh, Ida, additional, Liu, Zhi, additional, Ljunggren, Hans-Gustaf, additional, Lunardi, Claudio, additional, Lundin, Knut E.A., additional, Lünemann, Jan D., additional, Lunn, Michael P.T., additional, Lustig, Livia, additional, Mackay, Charles R., additional, Mackay, Ian R., additional, Malattia, Clara, additional, Martinez-Pomares, Luisa, additional, Martini, Alberto, additional, Mauri, Claudia, additional, McCombe, Pamela A., additional, Melchers, Fritz, additional, Mieli-Vergani, Giorgina, additional, Miller, Frederick W., additional, Miller, Stephen D., additional, Mizui, Masayuki, additional, Mjösberg, Jenny, additional, Münz, Christian, additional, Nijjar, Jagtar Singh, additional, Norris, David A., additional, Oleinika, Kristine, additional, Oppenheim, Joost J., additional, Pawlak, Mathias, additional, Peligero-Cruz, Cristina, additional, Peters, Anneli, additional, Peterson, Pärt, additional, Pitarokoili, Kalliopi, additional, Presotto, Fabio, additional, Puccetti, Antonio, additional, Rabb, Hamid, additional, Raczek, Patricia, additional, Rahman, M. Jubayer, additional, Ramos-Casals, Manuel, additional, Rose, Noel R., additional, Rosen, Antony, additional, Sadasivam, Mohanraj, additional, Schiffenbauer, Adam, additional, Schwaeble, Wilhelm J., additional, Sen, H. Nida, additional, Serota, Marc, additional, Sheikh, Kazim A., additional, Shoenfeld, Yehuda, additional, Shovman, Ora, additional, Sieper, Joachim, additional, Silverstein, Arthur M., additional, Sim, Robert B., additional, Smith, Kenneth G C, additional, Smolen, Josef S., additional, Sollid, Ludvig M., additional, Spiteri, Alanna, additional, Steinman, Lawrence, additional, Stone, John H., additional, Syrbe, Uta, additional, Tamhaney, Ami, additional, Tanaka, Atsushi, additional, Taneja, Veena, additional, Tarbell, Kristin V., additional, Tinazzi, Elisa, additional, Tiong, Benedict K., additional, Toh, Ban-Hock, additional, Tsokos, George C., additional, Tung, Kenneth S.K., additional, Varga, John, additional, Vergani, Diego, additional, Vickers, Mark A., additional, Viegas, Stuart, additional, Vincent, Angela, additional, von Herrath, Matthias, additional, Weetman, Anthony P., additional, Weinstock, Joel V., additional, Wentworth, John M., additional, Wesley, Sarah, additional, Weyand, Cornelia M., additional, Wingender, Gerhard, additional, Winter, Michael W., additional, Zanchetta, Renato, additional, and Zouali, Moncef, additional

Published
2020
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42. Significant out-of-sample classification from methylation profile scoring for amyotrophic lateral sclerosis

Author

Nabais, Marta F., Lin, Tian, Benyamin, Beben, Williams, Kelly L., Garton, Fleur C., Vinkhuyzen, Anna A. E., Zhang, Futao, Vallerga, Costanza L., Restuadi, Restuadi, Freydenzon, Anna, Zwamborn, Ramona A. J., Hop, Paul J., Robinson, Matthew R., Gratten, Jacob, Visscher, Peter M., Hannon, Eilis, Mill, Jonathan, Brown, Matthew A., Laing, Nigel G., Mather, Karen A., Sachdev, Perminder S., Ngo, Shyuan T., Steyn, Frederik J., Wallace, Leanne, Henders, Anjali K., Needham, Merrilee, Veldink, Jan H., Mathers, Susan, Nicholson, Garth, Rowe, Dominic B., Henderson, Robert D., McCombe, Pamela A., Pamphlett, Roger, Yang, Jian, Blair, Ian P., McRae, Allan F., and Wray, Naomi R.

Published
2020
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43. Treatment Response Score to Glatiramer Acetate or Interferon Beta-1a

Author

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, GrandʼMaison, Francois, Oreja-Guevara, Celia, van Pesch, Vincent, Cartechini, Elisabetta, Petersen, Thor, Altintas, Ayse, Soysal, Aysun, Ramo-Tello, Cristina, McCombe, Pamela, Turkoglu, Recai, Butzkueven, Helmut, Wolinsky, Jerry S., Solaro, Claudio, and Sormani, Maria Pia

Published
2021
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44. Disability accrual in primary and secondary progressive multiple sclerosis

Author

Harding-Forrester, Sam, primary, Roos, Izanne, additional, Nguyen, Ai-Lan, additional, Malpas, Charles B, additional, Diouf, Ibrahima, additional, Moradi, Nahid, additional, Sharmin, Sifat, additional, Izquierdo, Guillermo, additional, Eichau, Sara, additional, Patti, Francesco, additional, Horakova, Dana, additional, Kubala Havrdova, Eva, additional, Prat, Alexandre, additional, Girard, Marc, additional, Duquette, Pierre, additional, Grand'Maison, Francois, additional, Onofrj, Marco, additional, Lugaresi, Alessandra, additional, Grammond, Pierre, additional, Ozakbas,, Serkan, additional, Amato, Maria Pia, additional, Gerlach, Oliver, additional, Sola, Patrizia, additional, Ferraro, Diana, additional, Buzzard, Katherine, additional, Skibina, Olga, additional, Lechner-Scott, Jeannette, additional, Alroughani, Raed, additional, Boz, Cavit, additional, Van Pesch, Vincent, additional, Cartechini, Elisabetta, additional, Terzi, Murat, additional, Maimone, Davide, additional, Ramo-Tello, Cristina, additional, Yamout, Bassem, additional, Khoury, Samia Joseph, additional, La Spitaleri, Daniele, additional, Sa, Maria Jose, additional, Blanco, Yolanda, additional, Granella, Franco, additional, Slee, Mark, additional, Butler, Ernest, additional, Sidhom, Youssef, additional, Gouider, Riadh, additional, Bergamaschi, Roberto, additional, Karabudak, Rana, additional, Ampapa, Radek, additional, Sánchez-Menoyo, José Luis, additional, Prevost, Julie, additional, Castillo-Trivino, Tamara, additional, McCombe, Pamela A, additional, Macdonell, Richard, additional, Laureys, Guy, additional, Van Hijfte, Liesbeth, additional, Oh, Jiwon, additional, Altintas, Ayse, additional, de Gans, Koen, additional, Turkoglu, Recai, additional, van der Walt, Anneke, additional, Butzkueven, Helmut, additional, Vucic, Steve, additional, Barnett, Michael, additional, Cristiano, Edgardo, additional, Hodgkinson, Suzanne, additional, Iuliano, Gerardo, additional, Kappos, Ludwig, additional, Kuhle, Jens, additional, Shaygannejad, Vahid, additional, Soysal, Aysun, additional, Weinstock-Guttman, Bianca, additional, Van Wijmeersch, Bart, additional, and Kalincik, Tomas, additional

Published
2023
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46. Early non-disabling relapses are important predictors of disability accumulation in people with relapsing-remitting multiple sclerosis

Author

Daruwalla, Cyrus, primary, Shaygannejad, Vahid, additional, Ozakbas, Serkan, additional, Havrdova, Eva Kubala, additional, Horakova, Dana, additional, Alroughani, Raed, additional, Boz, Cavit, additional, Patti, Francesco, additional, Onofrj, Marco, additional, Lugaresi, Alessandra, additional, Eichau, Sara, additional, Girard, Marc, additional, Prat, Alexandre, additional, Duquette, Pierre, additional, Yamout, Bassem, additional, Khoury, Samia J, additional, Sajedi, Seyed Aidin, additional, Turkoglu, Recai, additional, Altintas, Ayse, additional, Skibina, Olga, additional, Buzzard, Katherine, additional, Grammond, Pierre, additional, Karabudak, Rana, additional, van der Walt, Anneke, additional, Butzkueven, Helmut, additional, Maimone, Davide, additional, Lechner-Scott, Jeannette, additional, Soysal, Aysun, additional, John, Nevin, additional, Prevost, Julie, additional, Spitaleri, Daniele, additional, Ramo-Tello, Cristina, additional, Gerlach, Oliver, additional, Iuliano, Gerardo, additional, Foschi, Matteo, additional, Ampapa, Radek, additional, van Pesch, Vincent, additional, Barnett, Michael, additional, Shalaby, Nevin, additional, D’hooghe, Marie, additional, Kuhle, Jens, additional, Sa, Maria Jose, additional, Fabis-Pedrini, Marzena, additional, Kermode, Allan, additional, Mrabet, Saloua, additional, Gouider, Riadh, additional, Hodgkinson, Suzanne, additional, Laureys, Guy, additional, Van Hijfte, Liesbeth, additional, Macdonell, Richard, additional, Oreja-Guevara, Celia, additional, Cristiano, Edgardo, additional, McCombe, Pamela, additional, Sanchez-Menoyo, Jose Luis, additional, Singhal, Bhim, additional, Blanco, Yolanda, additional, Hughes, Stella, additional, Garber, Justin, additional, Solaro, Claudio, additional, McGuigan, Chris, additional, Taylor, Bruce, additional, de Gans, Koen, additional, Habek, Mario, additional, Al-Asmi, Abdullah, additional, Mihaela, Simu, additional, Castillo Triviño, Tamara, additional, Al-Harbi, Talal, additional, Rojas, Juan Ignacio, additional, Gray, Orla, additional, Khurana, Dheeraj, additional, Van Wijmeersch, Bart, additional, Grigoriadis, Nikolaos, additional, Inshasi, Jihad, additional, Oh, Jiwon, additional, Aguera-Morales, Eduardo, additional, Fragoso, Yara, additional, Moore, Fraser, additional, Shaw, Cameron, additional, Baghbanian, Seyed Mohammad, additional, Shuey, Neil, additional, Willekens, Barbara, additional, Hardy, Todd A, additional, Decoo, Danny, additional, sempere, Angel Perez, additional, Field, Deborah, additional, Wynford-Thomas, Ray, additional, Cunniffe, Nick G, additional, Roos, Izanne, additional, Malpas, Charles B, additional, Coles, Alasdair J, additional, Kalincik, Tomas, additional, and Brown, J William L, additional

Published
2023
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47. Comparative effectiveness in multiple sclerosis: A methodological comparison

Author

Roos, Izanne, primary, Diouf, Ibrahima, additional, Sharmin, Sifat, additional, Horakova, Dana, additional, Havrdova, Eva Kubala, additional, Patti, Francesco, additional, Shaygannejad, Vahid, additional, Ozakbas, Serkan, additional, Izquierdo, Guillermo, additional, Eichau, Sara, additional, Onofrj, Marco, additional, Lugaresi, Alessandra, additional, Alroughani, Raed, additional, Prat, Alexandre, additional, Girard, Marc, additional, Duquette, Pierre, additional, Terzi, Murat, additional, Boz, Cavit, additional, Grand’Maison, Francois, additional, Sola, Patrizia, additional, Ferraro, Diana, additional, Grammond, Pierre, additional, Turkoglu, Recai, additional, Buzzard, Katherine, additional, Skibina, Olga, additional, Yamou, Bassem, additional, Altintas, Ayse, additional, Gerlach, Oliver, additional, van Pesch, Vincent, additional, Blanco, Yolanda, additional, Maimone, Davide, additional, Lechner-Scott, Jeannette, additional, Bergamaschi, Roberto, additional, Karabudak, Rana, additional, McGuigan, Chris, additional, Cartechini, Elisabetta, additional, Barnett, Michael, additional, Hughes, Stella, additional, Sa, Maria José, additional, Solaro, Claudio, additional, Ramo-Tello, Cristina, additional, Hodgkinson, Suzanne, additional, Spitaleri, Daniele, additional, Soysal, Aysun, additional, Petersen, Thor, additional, Granella, Franco, additional, de Gans, Koen, additional, McCombe, Pamela, additional, Ampapa, Radek, additional, Van Wijmeersch, Bart, additional, van der Walt, Anneke, additional, Butzkueven, Helmut, additional, Prevost, Julie, additional, Sanchez-Menoyo, Jose Luis, additional, Laureys, Guy, additional, Gouider, Riadh, additional, Castillo-Triviño, Tamara, additional, Gray, Orla, additional, Aguera-Morales, Eduardo, additional, Al-Asmi, Abdullah, additional, Shaw, Cameron, additional, Deri, Norma, additional, Al-Harbi, Talal, additional, Fragoso, Yara, additional, Csepany, Tunde, additional, Sempere, Angel Perez, additional, Trevino-Frenk, Irene, additional, Schepel, Jan, additional, Moore, Fraser, additional, Malpas, Charles, additional, and Kalincik, Tomas, additional

Published
2023
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48. Variability of the response to immunotherapy among subgroups of patients with multiple sclerosis

Author

Diouf, Ibrahima, primary, Malpas, Charles B., additional, Sharmin, Sifat, additional, Roos, Izanne, additional, Horakova, Dana, additional, Havrdova, Eva Kubala, additional, Patti, Francesco, additional, Shaygannejad, Vahid, additional, Ozakbas, Serkan, additional, Izquierdo, Guillermo, additional, Eichau, Sara, additional, Onofrj, Marco, additional, Lugaresi, Alessandra, additional, Alroughani, Raed, additional, Prat, Alexandre, additional, Girard, Marc, additional, Duquette, Pierre, additional, Terzi, Murat, additional, Boz, Cavit, additional, Grand'Maison, Francois, additional, Hamdy, Sherif, additional, Sola, Patrizia, additional, Ferraro, Diana, additional, Grammond, Pierre, additional, Turkoglu, Recai, additional, Buzzard, Katherine, additional, Skibina, Olga, additional, Yamout, Bassem, additional, Altintas, Ayse, additional, Gerlach, Oliver, additional, van Pesch, Vincent, additional, Blanco, Yolanda, additional, Maimone, Davide, additional, Lechner‐Scott, Jeannette, additional, Bergamaschi, Roberto, additional, Karabudak, Rana, additional, Iuliano, Gerardo, additional, McGuigan, Chris, additional, Cartechini, Elisabetta, additional, Barnett, Michael, additional, Hughes, Stella, additional, Sa, Maria José, additional, Solaro, Claudio, additional, Kappos, Ludwig, additional, Ramo‐Tello, Cristina, additional, Cristiano, Edgardo, additional, Hodgkinson, Suzanne, additional, Spitaleri, Daniele, additional, Soysal, Aysun, additional, Petersen, Thor, additional, Slee, Mark, additional, Butler, Ernest, additional, Granella, Franco, additional, de Gans, Koen, additional, McCombe, Pamela, additional, Ampapa, Radek, additional, Van Wijmeersch, Bart, additional, van der Walt, Anneke, additional, Butzkueven, Helmut, additional, Prevost, Julie, additional, Sinnige, L. G. F., additional, Sanchez‐Menoyo, Jose Luis, additional, Vucic, Steve, additional, Laureys, Guy, additional, Van Hijfte, Liesbeth, additional, Khurana, Dheeraj, additional, Macdonell, Richard, additional, Gouider, Riadh, additional, Castillo‐Triviño, Tamara, additional, Gray, Orla, additional, Aguera‐Morales, Eduardo, additional, Al‐Asmi, Abdullah, additional, Shaw, Cameron, additional, Deri, Norma, additional, Al‐Harbi, Talal, additional, Fragoso, Yara, additional, Csepany, Tunde, additional, Perez Sempere, Angel, additional, Trevino‐Frenk, Irene, additional, Schepel, Jan, additional, Moore, Fraser, additional, and Kalincik, Tomas, additional

Published
2023
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49. A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunction

Author

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, Allison, Cody C., Pellegrini, Marc, Tannahill, Gillian M., Hatchell, Esme C., Willson, Tracy A., Stockwell, Dina, de Graaf, Carolyn A., Collinge, Janelle, Hilton, Adrienne, Silke, Natasha, Spall, Sukhdeep K., Chau, Diep, Athanasopoulos, Vicki, Metcalf, Donald, Laxer, Ronald M., Bassuk, Alexander G., Darbro, Benjamin W., Fiatarone Singh, Maria A., Vlahovich, Nicole, Hughes, David, Kozlovskaia, Maria, Ascher, David B., Warnatz, Klaus, Venhoff, Nils, Thiel, Jens, Biben, Christine, Blum, Stefan, Reveille, John, Hildebrand, Michael S., Vinuesa, Carola G., McCombe, Pamela, Brown, Matthew A., Kile, Benjamin T., McLean, Catriona, Bahlo, Melanie, Masters, Seth L., Nakano, Hiroyasu, Ferguson, Polly J., Murphy, James M., Alexander, Warren S., and Silke, John

Published
2020
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50. Sensitivity and specificity of the ECAS in identifying executive function and social cognition deficits in MND.

Author

Tjokrowijoto, Priscilla, Phillips, Mia, Ceslis, Amelia, Henderson, Robert D., McCombe, Pamela A., and Robinson, Gail A.

Subjects
SOCIAL perception, EXECUTIVE function, SOCIAL skills, AMYOTROPHIC lateral sclerosis, SENSITIVITY & specificity (Statistics)
Abstract

Objective: Motor neurone disease [MND] encompasses broad cognitive impairments, which are not fully captured by most screening tools. This study evaluated the specificity and sensitivity of the Edinburgh Cognitive and Behavioral ALS Screen [ECAS] in detecting impairments in executive function and social cognition. Methods: Participants (MND = 64; Healthy Controls = 45) completed the ECAS and standard neuropsychology tests of executive function and social cognition. Sensitivity and specificity of the ECAS were assessed at three levels (ALS-Specific score, executive function domain score, individual subtests: social cognition, inhibition, working memory, alternation). Results: MND patients were impaired on standard social cognition, initiation, visuomotor alternation, and verbal learning tests but not on inhibition or working memory tests, relative to controls. ECAS results revealed that the ALS-Specific score was high in specificity but low-to-moderately sensitive in identifying social cognition, inhibition, and working memory deficits, and that both sensitivity and specificity were high for identifying alternation deficits. The ECAS executive function domain score was high in specificity but poor in sensitivity for all four executive function domain subtests. The individual ECAS subtests were highly specific with good sensitivity, but the social cognition subtest lacked sensitivity. Conclusions: Impairments in social cognition may go undetected when using the ECAS as a screening tool. Thus, social cognition may need to be considered as a standalone component, distinct from the other executive functions. In addition, the test itself may need to be adjusted to encompass other aspects of social cognition that are affected in MND. Cognitive screening tools are key to detect cognitive changes in MND, with the domains most affected being executive functions, language, and social cognition. The ECAS measure, developed for MND, has good specificity but lacks sensitivity to impairments in social cognition. Clinical implications are that cognitive impairments in social cognition may not be identified in MND patients by the ECAS. Adjustment to the ECAS cognitive screening tool widely-used in MND is suggested. [ABSTRACT FROM AUTHOR]

Published
2023
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