807 results on '"McCombe, Pamela"'
Search Results
2. Examining the environmental risk factors of progressive-onset and relapsing-onset multiple sclerosis: recruitment challenges, potential bias, and statistical strategies
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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
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- 2024
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3. Functional characterisation of the amyotrophic lateral sclerosis risk locus GPX3/TNIP1
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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
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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
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- 2022
4. The role of epigenetic mechanisms and processes in autoimmune disorders
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Greer, Judith M. and McCombe, Pamela A.
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- 2012
5. Proteomic investigation of ALS motor cortex identifies known and novel pathogenetic mechanisms
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Lee, Aven, Henderson, Robert, Arachchige, Buddhika Jayakody, Robertson, Thomas, and McCombe, Pamela Ann
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- 2023
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6. Neutrophil-to-lymphocyte ratio at diagnosis as a biomarker for survival of amyotrophic lateral sclerosis
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Nona, Robert J., primary, Henderson, Robert D., additional, and McCombe, Pamela A., additional
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- 2024
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7. Routine CSF parameters as predictors of disease course in multiple sclerosis: an MSBase cohort study
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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
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- 2024
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8. Long-term efficacy and safety of rituximab in the treatment of neuromyelitis Optica Spectrum disorder
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Hayes, Michael T G, primary, Adam, Robert J, additional, McCombe, Pamela A, additional, Walsh, Michael, additional, and Blum, Stefan, additional
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- 2024
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9. Polygenic risk score analysis for amyotrophic lateral sclerosis leveraging cognitive performance, educational attainment and schizophrenia
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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.
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- 2022
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10. Impaired signaling for neuromuscular synaptic maintenance is a feature of Motor Neuron Disease
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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.
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- 2022
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11. Potential mechanisms to modify impaired glucose metabolism in neurodegenerative disorders
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McDonald, Tanya S, Lerskiatiphanich, Titaya, Woodruff, Trent M, McCombe, Pamela A, and Lee, John D
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- 2023
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12. Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
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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.
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- 2021
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13. General neurology: Current challenges and future implications
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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
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- 2024
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14. Variation in Resting Metabolic Rate Affects Identification of Metabolic Change in Geographically Distinct Cohorts of Patients With ALS
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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
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- 2024
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15. Gut Symptoms, Gut Dysbiosis and Gut-Derived Toxins in ALS
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Lee, Aven, primary, Henderson, Robert, additional, Aylward, James, additional, and McCombe, Pamela, additional
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- 2024
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16. Cytokines as a marker of central nervous system autoantibody associated epilepsy
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Gillinder, Lisa, McCombe, Pamela, Powell, Tamara, Hartel, Gunter, Gillis, David, Rojas, Ingrid Leal, and Radford, Kristen
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- 2021
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17. Biofluid Biomarkers of Amyotrophic Lateral Sclerosis
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Holdom, Cory J., primary, Steyn, Frederik J., additional, Henderson, Robert D., additional, McCombe, Pamela A., additional, Rogers, Mary-Louise, additional, and Ngo, Shyuan T., additional
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- 2021
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18. The spectrum of language impairments in amyotrophic lateral sclerosis
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Ceslis, Amelia, Argall, Rosemary, Henderson, Robert D., McCombe, Pamela A., and Robinson, Gail A.
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- 2020
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19. Verbal and nonverbal fluency in amyotrophic lateral sclerosis.
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Barker, Megan S., Ceslis, Amelia, Argall, Rosemary, McCombe, Pamela, Henderson, Robert D., and Robinson, Gail A.
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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]
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- 2024
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20. Vitamin D did not reduce multiple sclerosis disease activity after a clinically isolated syndrome.
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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
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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 D
3 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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21. Mutations in heat shock protein beta-1 (HSPB1) are associated with a range of clinical phenotypes related to different patterns of motor neuron dysfunction: A case series
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Katz, Matthew, Davis, Mark, Garton, Fleur C., Henderson, Robert, Bharti, Vanda, Wray, Naomi, and McCombe, Pamela
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- 2020
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22. Plasma from some patients with amyotrophic lateral sclerosis exhibits elevated formaldehyde levels
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Lee, Aven, Arachchige, Buddhika Jayakody, Reed, Sarah, Henderson, Robert, Aylward, James, and McCombe, Pamela Ann
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- 2020
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23. Vitamin D did not reduce multiple sclerosis disease activity after a clinically isolated syndrome
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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
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- 2023
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24. Verbal and nonverbal fluency in amyotrophic lateral sclerosis
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Barker, Megan S., primary, Ceslis, Amelia, additional, Argall, Rosemary, additional, McCombe, Pamela, additional, Henderson, Robert D., additional, and Robinson, Gail A., additional
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- 2023
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25. Unraveling Shared Pathways: A Comprehensive Systematic Review of Common Fiber Tracts in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia using Diffusion Tensor Imaging
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Alruwaili, Ashwag Rafea S, primary, Devine, Matthew S, additional, and Mccombe, Pamela, additional
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- 2023
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26. The clinical profile of NMOSD in Australia and New Zealand
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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.
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- 2020
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27. Incidence of pregnancy and disease-modifying therapy exposure trends in women with multiple sclerosis: A contemporary cohort study
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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
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- 2019
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28. Phase 1b dose-escalation, safety, and pharmacokinetic study of IC14, a monoclonal antibody against CD14, for the treatment of amyotrophic lateral sclerosis
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Henderson, Robert D., Agosti, Jan M., McCombe, Pamela A., Thorpe, Kathryn, Heggie, Susan, Heshmat, Saman, Appleby, Mark W., Ziegelaar, Brian W., Crowe, David T., and Redlich, Garry L.
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- 2021
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29. Comparative efficacy of ofatumumab versus oral therapies for relapsing multiple sclerosis patients using propensity score analyses and simulated treatment comparisons.
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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.
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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]
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- 2024
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30. Transient binocular vision loss and pain insensitivity in Klippel–Feil syndrome: a case report.
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Ullah, Zeeshan, Zafar, Ayesha, Ishaq, Hira, Umar, Zainab, Khan, Amir, Badar, Yaseen, Din, Nizamud, Khan, Muhammad Fawad, McCombe, Pamela, and Khan, Nemat
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BINOCULAR vision ,VISION disorders ,CONGENITAL disorders ,HEARING disorders ,INTRACRANIAL pressure ,OPTIC nerve injuries ,CHEMICAL burns - Abstract
Background: Klippel–Feil syndrome is a rare congenital bone disorder characterized by an abnormal fusion of two or more cervical spine vertebrae. Individuals with Klippel–Feil syndrome exhibit diverse clinical manifestations, including skeletal irregularities, visual and hearing impairments, orofacial anomalies, and anomalies in various internal organs, such as the heart, kidneys, genitourinary system, and nervous system. Case presentation: This case report describes a 12-year-old Pashtun female patient who presented with acute bilateral visual loss. The patient had Klippel–Feil syndrome, with the typical clinical triad symptoms of Klippel–Feil syndrome, along with Sprengel's deformity. She also exhibited generalized hypoalgesia, which had previously resulted in widespread burn-related injuries. Upon examination, bilateral optic disc swelling was observed, but intracranial pressure was found to be normal. Extensive investigations yielded normal results, except for hypocalcemia and low vitamin D levels, while parathyroid function remained within the normal range. Visual acuity improved following 2 months of calcium and vitamin D supplementation, suggesting that the visual loss and optic nerve swelling were attributed to hypocalcemia. Given the normal parathyroid function, it is possible that hypocalcemia resulted from low vitamin D levels, which can occur after severe burn scarring. Furthermore, the patient received a provisional diagnosis of congenital insensitivity to pain on the basis of the detailed medical history and the findings of severe and widespread loss of the ability to perceive painful stimuli, as well as impaired temperature sensation. However, due to limitations in genetic testing, confirmation of the congenital insensitivity to pain diagnosis could not be obtained. Conclusion: This case highlights a rare presentation of transient binocular vision loss and pain insensitivity in a patient with Klippel–Feil syndrome, emphasizing the importance of considering unusual associations in symptom interpretation. [ABSTRACT FROM AUTHOR]
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- 2024
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31. 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.
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Howe, Stephanie L., Holdom, Cory J., McCombe, Pamela A., Henderson, Robert D., Zigman, Jeffrey M., Ngo, Shyuan T., and Steyn, Frederik J.
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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]
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- 2024
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32. Longitudinal changes in intrinsic motoneuron excitability in amyotrophic lateral sclerosis are dependent on disease progression
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Trajano, Gabriel S., primary, Orssatto, Lucas B. R., additional, McCombe, Pamela A., additional, Rivlin, Warwick, additional, Tang, Lily, additional, and Henderson, Robert D., additional
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- 2023
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33. 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
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Howe, Stephanie L., primary, Holdom, Cory J., additional, McCombe, Pamela A., additional, Henderson, Robert D., additional, Zigman, Jeffrey M., additional, Ngo, Shyuan T., additional, and Steyn, Frederik J., additional
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- 2023
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34. 2723 Secondary progressive multiple sclerosis patients in Australia treated with siponimod; novel real-world evidence from the MSGo digital support program
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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
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- 2023
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35. 2818 Recurrent meningo-encephalitis due to MOG-antibody associated disease
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Travers, Brett, primary, McCombe, Pamela, additional, and Roizman, Michael, additional
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- 2023
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36. Sexual Dimorphism in the Immune System
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McCombe, Pamela A., primary and Greer, Judith M., additional
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- 2020
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37. List of Contributors
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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
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- 2020
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38. Effect of Disease Modifying Therapy on Disability in Relapsing-Remitting Multiple Sclerosis Over 15 Years
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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
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- 2020
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39. Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
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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.
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- 2022
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40. Treatment Response Score to Glatiramer Acetate or Interferon Beta-1a
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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
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- 2021
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41. Serial MRI studies over 12 months using manual and atlas-based region of interest in patients with amyotrophic lateral sclerosis
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Alruwaili, Ashwag R., Pannek, Kerstin, Henderson, Robert D., Gray, Marcus, Kurniawan, Nyoman D., and McCombe, Pamela A.
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- 2020
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42. Significant out-of-sample classification from methylation profile scoring for amyotrophic lateral sclerosis
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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.
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- 2020
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43. The risk of secondary progressive multiple sclerosis is geographically determined but modifiable
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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
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- 2023
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44. Disability accrual in primary and secondary progressive multiple sclerosis
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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
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- 2023
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45. A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunction
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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
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- 2020
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46. Takotsubo Cardiomyopathy in Myasthenic Crisis
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Katz, Matthew, Walsh, Stephen, Tsang, Ben, Corbett, Joel, Sabet, Arman, and McCombe, Pamela
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- 2020
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47. RNA-seq analysis of skeletal muscle in motor neurone disease cases and controls
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Freydenzon, Anna, primary, Wani, Shivangi, additional, Bharti, Vanda, additional, Wallace, Leanne M, additional, Henders, Anjali K, additional, McCombe, Pamela A, additional, Henderson, Robert D, additional, Steyn, Frederik J, additional, Wray, Naomi R, additional, Ngo, Shyuan T, additional, and McRae, Allan F, additional
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- 2023
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48. Early non-disabling relapses are important predictors of disability accumulation in people with relapsing-remitting multiple sclerosis
- Author
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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
- Full Text
- View/download PDF
49. Comparative effectiveness in multiple sclerosis: A methodological comparison
- Author
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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
- Full Text
- View/download PDF
50. Variability of the response to immunotherapy among subgroups of patients with multiple sclerosis
- Author
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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
- Full Text
- View/download PDF
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