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2021

Journal Article

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

Lee, John D., Heshmat, Saman, Heggie, Susan, Thorpe, Kathryn A., McCombe, Pamela A. and Henderson, Robert D. (2021). Clinical and electrophysiological examination of pinch strength in patients with amyotrophic lateral sclerosis. Muscle and Nerve, 63 (1) mus.27111, 108-113. doi: 10.1002/mus.27111

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

2021

Journal Article

Prediction of multiple sclerosis outcomes when switching to ocrelizumab

Zhong, Michael, van der Walt, Anneke, Stankovich, Jim, Kalincik, Tomas, Buzzard, Katherine, Skibina, Olga, Boz, Cavit, Hodgkinson, Suzanne, Slee, Mark, Lechner-Scott, Jeannette, Macdonell, Richard, Prevost, Julie, Kuhle, Jens, Laureys, Guy, Van Hijfte, Liesbeth, Alroughani, Raed, Kermode, Allan G, Butler, Ernest, Barnett, Michael, Eichau, Sara, van Pesch, Vincent, Grammond, Pierre, McCombe, Pamela, Karabudak, Rana, Duquette, Pierre, Girard, Marc, Taylor, Bruce, Yeh, Wei, Monif, Mastura ... Jokubaitis, Vilija G (2021). Prediction of multiple sclerosis outcomes when switching to ocrelizumab. Multiple Sclerosis Journal, 28 (6) 13524585211049986, 958-969. doi: 10.1177/13524585211049986

Prediction of multiple sclerosis outcomes when switching to ocrelizumab

2020

Journal Article

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

Hildebrand, Joanne M., Kauppi, Maria, Majewski, Ian J., Liu, Zikou, Cox, Allison J., Miyake, Sanae, Petrie, Emma J., Silk, Michael A., Li, Zhixiu, Tanzer, Maria C., Brumatti, Gabriela, Young, Samuel N., Hall, Cathrine, Garnish, Sarah E., Corbin, Jason, Stutz, Michael D., Di Rago, Ladina, Gangatirkar, Pradnya, Josefsson, Emma C., Rigbye, Kristin, Anderton, Holly, Rickard, James A., Tripaydonis, Anne, Sheridan, Julie, Scerri, Thomas S., Jackson, Victoria E., Czabotar, Peter E., Zhang, Jian-Guo, Varghese, Leila ... Silke, John (2020). A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunction. Nature Communications, 11 (1) 3150, 3150. doi: 10.1038/s41467-020-16819-z

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

2020

Journal Article

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

Lucia, Diana, McCombe, Pamela A., Henderson, Robert D. and Ngo, Shyuan T. (2020). Disorders of sleep and wakefulness in amyotrophic lateral sclerosis (ALS): a systematic review. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 22 (3-4), 1-9. doi: 10.1080/21678421.2020.1844755

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

2020

Journal Article

The spectrum of language impairments in amyotrophic lateral sclerosis

Ceslis, Amelia, Argall, Rosemary, Henderson, Robert D., McCombe, Pamela A. and Robinson, Gail A. (2020). The spectrum of language impairments in amyotrophic lateral sclerosis. Cortex, 132, 349-360. doi: 10.1016/j.cortex.2020.09.003

The spectrum of language impairments in amyotrophic lateral sclerosis

2020

Journal Article

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

Lee, Aven, Arachchige, Buddhika Jayakody, Henderson, Robert, Pow, David, Reed, Sarah, Aylward, James and McCombe, Pamela Ann (2020). Elevated plasma levels of D-serine in some patients with amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 22 (3-4), 206-210. doi: 10.1080/21678421.2020.1832120

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

2020

Journal Article

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

Iacoangeli, Alfredo, Lin, Tian, Al Khleifat, Ahmad, Jones, Ashley R., Opie-Martin, Sarah, Coleman, Jonathan R.I., Shatunov, Aleksey, Sproviero, William, Williams, Kelly L., Garton, Fleur, Restuadi, Restuadi, Henders, Anjali K., Mather, Karen A., Needham, Merilee, Mathers, Susan, Nicholson, Garth A., Rowe, Dominic B., Henderson, Robert, McCombe, Pamela A., Pamphlett, Roger, Blair, Ian P., Schultz, David, Sachdev, Perminder S., Newhouse, Stephen J., Proitsi, Petroula, Fogh, Isabella, Ngo, Shyuan T., Dobson, Richard J.B., Wray, Naomi R. ... Al-Chalabi, Ammar (2020). Genome-wide meta-analysis finds the ACSL5-ZDHHC6 locus is associated with ALS and links weight loss to the disease genetics. Cell Reports, 33 (4) 108323, 1-9. doi: 10.1016/j.celrep.2020.108323

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

2020

Journal Article

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

Steyn, Frederik J., Li, Rui, Kirk, Siobhan E., Tefera, Tesfaye W, Xie, Teresa Y., Tracey, Timothy J., Kelk, Dean, Wimberger, Elyse, Garton, Fleur C., Roberts, Llion, Chapman, Sarah E., Coombes, Jeff S., Leevy, W. Matthew, Ferri, Alberto, Valle, Cristiana, René, Frédérique, Loeffler, Jean-Philippe, McCombe, Pamela A., Henderson, Robert D. and Ngo, Shyuan T. (2020). Altered skeletal muscle glucose-fatty acid flux in amyotrophic lateral sclerosis. Brain Communications, 2 (2) fcaa154, fcaa154. doi: 10.1093/braincomms/fcaa154

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

2020

Journal Article

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

Roos, Izanne, Leray, Emmanuelle, Frascoli, Federico, Casey, Romain, Brown, William J. L., Horakova, Dana, Havrdova, Eva K., Trojano, Maria, Patti, Francesco, Izquierdo, Guillermo, Eichau, Sara, Onofrj, Marco, Lugaresi, Alessandra, Prat, Alexandre, Girard, Marc, Grammond, Pierre, Sola, Patrizia, Ferraro, Diana, Ozakbas, Serkan, Bergamaschi, Roberto, Sá, Maria José, Cartechini, Elisabetta, Boz, Cavit, Granella, Franco, Hupperts, Raymond, Terzi, Murat, Lechner-Scott, Jeannette, Spitaleri, Daniele, van Pesch, Vincent ... Nifle, Chantal (2020). Delay from treatment start to full effect of immunotherapies for multiple sclerosis. Brain, 143 (9), 2742-2756. doi: 10.1093/brain/awaa231

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

2020

Journal Article

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

McCombe, Pamela A., Garton, Fleur C., Katz, Matthew, Wray, Naomi R. and Henderson, Robert D. (2020). What do we know about the variability in survival of patients with amyotrophic lateral sclerosis?. Expert Review of Neurotherapeutics, 20 (9), 921-941. doi: 10.1080/14737175.2020.1785873

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

2020

Journal Article

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

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

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

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