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2020

Journal Article

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

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

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

2020

Journal Article

Serial MRI studies over 12 months using manual and atlas-based region of interest in patients with amyotrophic lateral sclerosis

Alruwaili, Ashwag R., Pannek, Kerstin, Henderson, Robert D., Gray, Marcus, Kurniawan, Nyoman D. and McCombe, Pamela A. (2020). Serial MRI studies over 12 months using manual and atlas-based region of interest in patients with amyotrophic lateral sclerosis. BMC Medical Imaging, 20 (1) 90, 90. doi: 10.1186/s12880-020-00489-w

Serial MRI studies over 12 months using manual and atlas-based region of interest in patients with amyotrophic lateral sclerosis

2020

Journal Article

Pregnancy outcomes and postpartum relapse rates in women with RRMS treated with alemtuzumab in the phase 2 and 3 clinical development program over 16 years

Oh, Jiwon, Achiron, Anat, Celius, Elisabeth G., Chambers, Christina, Derwenskus, Joy, Devonshire, Virginia, Hellwig, Kerstin, Hutton, George J., McCombe, Pamela, Moore, Marie, Rog, David, Schneider, Jean-Raphael, Simm, Renata Faria, Sousa, Livia, Vincent, Stephen G., Chung, Luke, Daizadeh, Nadia, Mitchell, Colin and Compston, D. Alastair S. (2020). Pregnancy outcomes and postpartum relapse rates in women with RRMS treated with alemtuzumab in the phase 2 and 3 clinical development program over 16 years. Multiple Sclerosis and Related Disorders, 43 102146, 102146. doi: 10.1016/j.msard.2020.102146

Pregnancy outcomes and postpartum relapse rates in women with RRMS treated with alemtuzumab in the phase 2 and 3 clinical development program over 16 years

2020

Journal Article

Prediction of on-treatment disability worsening in RRMS with the MAGNIMS score

Kunchok, Amy, Lechner-Scott, Jeannette, Granella, Franco, Trojano, Maria, Alroughani, Raed, Sola, Patrizia, Ferraro, Diana, Lugaresi, Alessandra, Onofrj, Marco, Ozakbas, Serkan, Izquierdo, Guillermo, Grammond, Pierre, Luis Sanchez-Menoyo, Jose, Van Wijmeersch, Bart, Boz, Cavit, Pucci, Eugenio, McCombe, Pamela, Grand'Maison, Francois, Spitaleri, Daniele, Vucic, Steve, Hupperts, Raymond, Jokubaitis, Vilija, Sormani, Maria Pia, Butzkueven, Helmut and Kalincik, Tomas (2020). Prediction of on-treatment disability worsening in RRMS with the MAGNIMS score. Multiple Sclerosis Journal, 27 (5) 1352458520936823, 1352458520936823-705. doi: 10.1177/1352458520936823

Prediction of on-treatment disability worsening in RRMS with the MAGNIMS score

2020

Journal Article

Levels of clusterin, CD5L, ficolin-3, and gelsolin in ALS patients and controls

Mohanty, Lipsa, Henderson, Robert D., McCombe, Pamela A. and Lee, Aven (2020). Levels of clusterin, CD5L, ficolin-3, and gelsolin in ALS patients and controls. Amyotrophic lateral sclerosis & frontotemporal degeneration, 21 (7-8), 1-4. doi: 10.1080/21678421.2020.1779303

Levels of clusterin, CD5L, ficolin-3, and gelsolin in ALS patients and controls

2020

Journal Article

Relapse patterns in NMOSD: evidence for earlier occurrence of optic neuritis and possible seasonal variation

Khalilidehkordi, Elham, Clarke, Laura, Arnett, Simon, Bukhari, Wajih, Jimenez Sanchez, Sofia, O'Gorman, Cullen, Sun, Jing, Prain, Kerri M., Woodhall, Mark, Silvestrini, Roger, Bundell, Christine S., Abernethy, David, Bhuta, Sandeep, Blum, Stefan, Boggild, Mike, Boundy, Karyn, Brew, Bruce J., Brown, Matthew, Brownlee, Wallace, Butzkueven, Helmut, Carroll, William M., Chen, Celia, Coulthard, Alan, Dale, Russell C., Das, Chandi, Fabis-Pedrini, Marzena J., Fulcher, David, Gillis, David, Hawke, Simon ... Broadley, Simon A. (2020). Relapse patterns in NMOSD: evidence for earlier occurrence of optic neuritis and possible seasonal variation. Frontiers in Neurology, 11 537, 537. doi: 10.3389/fneur.2020.00537

Relapse patterns in NMOSD: evidence for earlier occurrence of optic neuritis and possible seasonal variation

2020

Journal Article

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

Katz, Matthew, Davis, Mark, Garton, Fleur C., Henderson, Robert, Bharti, Vanda, Wray, Naomi and McCombe, Pamela (2020). 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. Journal of the Neurological Sciences, 413 116809, 116809. doi: 10.1016/j.jns.2020.116809

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

2020

Journal Article

Real-world effectiveness of cladribine for Australian patients with multiple sclerosis: An MSBase registry substudy

Lizak, Nathaniel, Hodgkinson, Suzanne, Butler, Ernest, Lechner-Scott, Jeannette, Slee, Mark, McCombe, Pamela Ann, Shaw, Cameron, Skibina, Olga, Vucic, Steve, Shuey, Neil, Barnett, Michael H, Parratt, John, Butzkueven, Helmut, Jack, Dominic, Fabris, Jessica and Kalincik, Tomas (2020). Real-world effectiveness of cladribine for Australian patients with multiple sclerosis: An MSBase registry substudy. Multiple Sclerosis Journal, 27 (3), 1352458520921087-474. doi: 10.1177/1352458520921087

Real-world effectiveness of cladribine for Australian patients with multiple sclerosis: An MSBase registry substudy

2020

Journal Article

Takotsubo Cardiomyopathy in Myasthenic Crisis

Katz, Matthew, Walsh, Stephen, Tsang, Ben, Corbett, Joel, Sabet, Arman and McCombe, Pamela (2020). Takotsubo Cardiomyopathy in Myasthenic Crisis. Journal of Clinical Neuromuscular Disease, 21 (4), 244-245. doi: 10.1097/CND.0000000000000284

Takotsubo Cardiomyopathy in Myasthenic Crisis

2020

Journal Article

Early clinical markers of aggressive multiple sclerosis

Malpas, Charles B., Manouchehrinia, Ali, Sharmin, Sifat, Roos, Izanne, Horakova, Dana, Havrdova, Eva Kubala, Trojano, Maria, Izquierdo, Guillermo, Eichau, Sara, Bergamaschi, Roberto, Sola, Patrizia, Ferraro, Diana, Lugaresi, Alessandra, Prat, Alexandre, Girard, Marc, Duquette, Pierre, Grammond, Pierre, Grand'Maison, Francois, Ozakbas, Serkan, Van Pesch, Vincent, Granella, Franco, Hupperts, Raymond, Pucci, Eugenio, Boz, Cavit, Sidhom, Youssef, Gouider, Riadh, Spitaleri, Daniele, Soysal, Aysun, Petersen, Thor ... Kalincik, Tomas (2020). Early clinical markers of aggressive multiple sclerosis. Brain , 143 (5), 1400-1413. doi: 10.1093/brain/awaa081

Early clinical markers of aggressive multiple sclerosis

2020

Journal Article

The peripheral immune system and amyotrophic lateral sclerosis

McCombe, Pamela A., Lee, John D., Woodruff, Trent M. and Henderson, Robert D. (2020). The peripheral immune system and amyotrophic lateral sclerosis. Frontiers in Neurology, 11 279, 279. doi: 10.3389/fneur.2020.00279

The peripheral immune system and amyotrophic lateral sclerosis

2020

Journal Article

The potential interplay between energy metabolism and innate complement activation in amyotrophic lateral sclerosis

McDonald, Tanya S., McCombe, Pamela A., Woodruff, Trent M. and Lee, John D. (2020). The potential interplay between energy metabolism and innate complement activation in amyotrophic lateral sclerosis. The FASEB Journal, 34 (6) fj.201901781, 7225-7233. doi: 10.1096/fj.201901781

The potential interplay between energy metabolism and innate complement activation in amyotrophic lateral sclerosis

2020

Journal Article

Significant out-of-sample classification from methylation profile scoring for amyotrophic lateral sclerosis

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 ... Wray, Naomi R. (2020). Significant out-of-sample classification from methylation profile scoring for amyotrophic lateral sclerosis. npj Genomic Medicine, 5 (1) 10, 1-9. doi: 10.1038/s41525-020-0118-3

Significant out-of-sample classification from methylation profile scoring for amyotrophic lateral sclerosis

2020

Journal Article

Plasma from some patients with amyotrophic lateral sclerosis exhibits elevated formaldehyde levels

Lee, Aven, Arachchige, Buddhika Jayakody, Reed, Sarah, Henderson, Robert, Aylward, James and McCombe, Pamela Ann (2020). Plasma from some patients with amyotrophic lateral sclerosis exhibits elevated formaldehyde levels. Journal of the Neurological Sciences, 409 116589, 116589. doi: 10.1016/j.jns.2019.116589

Plasma from some patients with amyotrophic lateral sclerosis exhibits elevated formaldehyde levels

2020

Journal Article

Monocytes and neutrophils are associated with clinical features in amyotrophic lateral sclerosis

McGill, Raquel B., Steyn, Frederik J., Ngo, Shyuan T., Thorpe, Kathryn A., Heggie, Susan, Ruitenberg, Marc J., Henderson, Robert D., McCombe, Pamela A. and Woodruff, Trent M. (2020). Monocytes and neutrophils are associated with clinical features in amyotrophic lateral sclerosis. Brain Communications, 2 (1) fcaa013, fcaa013. doi: 10.1093/braincomms/fcaa013

Monocytes and neutrophils are associated with clinical features in amyotrophic lateral sclerosis

2020

Journal Article

Cylindrical spirals in two families: clinical and genetic investigations

Beecroft, Sarah J., Olive, Montse, Gonzalez Quereda, Lidia, Gallano, Pia, Ojanguren, Isabel, McLean, Catriona, McCombe, Pamela, Laing, Nigel G. and Ravenscroft, Gianina (2020). Cylindrical spirals in two families: clinical and genetic investigations. Neuromuscular Disorders, 30 (2), 151-158. doi: 10.1016/j.nmd.2019.12.006

Cylindrical spirals in two families: clinical and genetic investigations

2020

Journal Article

Clinical and therapeutic predictors of disease outcomes in AQP4-IgG+ neuromyelitis optica spectrum disorder

Kunchok, Amy, Malpas, Charles, Nytrova, Petra, Havrdova, Eva Kubala, Alroughani, Raed, Terzi, Murat, Yamout, Bassem, Hor, Jyh Yung, Karabudak, Rana, Boz, Cavit, Ozakbas, Serkan, Olascoaga, Javier, Simo, Magdolna, Granella, Franco, Patti, Francesco, McCombe, Pamela, Csepany, Tunde, Singhal, Bhim, Bergamaschi, Roberto, Fragoso, Yara, Al-Harbi, Talal, Turkoglu, Recai, Lechner-Scott, Jeannette, Laureys, Guy, Oreja-Guevara, Celia, Pucci, Eugenio, Sola, Patrizia, Ferraro, Diana, Altintas, Ayse ... Kalincik, Tomas (2020). Clinical and therapeutic predictors of disease outcomes in AQP4-IgG+ neuromyelitis optica spectrum disorder. Multiple Sclerosis and Related Disorders, 38 101868, 1-8. doi: 10.1016/j.msard.2019.101868

Clinical and therapeutic predictors of disease outcomes in AQP4-IgG+ neuromyelitis optica spectrum disorder

2020

Journal Article

The clinical profile of NMOSD in Australia and New Zealand

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 ... Broadley, Simon A. (2020). The clinical profile of NMOSD in Australia and New Zealand. Journal of Neurology, 267 (5), 1431-1443. doi: 10.1007/s00415-020-09716-4

The clinical profile of NMOSD in Australia and New Zealand

2020

Journal Article

Human brain neurons express a novel splice variant of excitatory amino acid transporter 5 (hEAAT5v)

Lee, Aven, Balcar, Vladimir J., McCombe, Pamela and Pow, David V. (2020). Human brain neurons express a novel splice variant of excitatory amino acid transporter 5 (hEAAT5v). Journal of Comparative Neurology, 528 (17) cne.24907, 3134-3142. doi: 10.1002/cne.24907

Human brain neurons express a novel splice variant of excitatory amino acid transporter 5 (hEAAT5v)

2020

Journal Article

Progression and survival of patients with motor neuron disease relative to their fecal microbiota

Ngo, Shyuan T., Restuadi, Restuadi, McCrea, Allan F., Van Eijk, Ruben P., Garton, Fleur, Henderson, Robert D., Wray, Naomi R., McCombe, Pamela A. and Steyn, Frederik J. (2020). Progression and survival of patients with motor neuron disease relative to their fecal microbiota. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 21 (7-8), 1-14. doi: 10.1080/21678421.2020.1772825

Progression and survival of patients with motor neuron disease relative to their fecal microbiota