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2025

Journal Article

An fMRI dataset for appetite neural correlates in people living with Motor Neuron Disease

Chang, Jeryn, Lv, JingLei, Guo, Christine C., Lucia, Diana, Bollmann, Saskia, Garner, Kelly, McCombe, Pamela A., Henderson, Robert D., Shaw, Thomas B., Steyn, Frederik J. and Ngo, Shyuan T. (2025). An fMRI dataset for appetite neural correlates in people living with Motor Neuron Disease. Scientific Data, 12 (1) 466, 466. doi: 10.1038/s41597-025-04828-w

An fMRI dataset for appetite neural correlates in people living with Motor Neuron Disease

2025

Journal Article

Appetite loss in patients with motor neuron disease: impact on weight loss and neural correlates of visual food cues

Chang, Jeryn, Shaw, Thomas B., McCombe, Pamela A., Henderson, Robert D., Lucia, Diana, Guo, Christine C., Lv, Jinglei, Garner, Kelly, Bollmann, Saskia, Ngo, Shyuan T. and Steyn, Frederik J. (2025). Appetite loss in patients with motor neuron disease: impact on weight loss and neural correlates of visual food cues. Brain Communications, 7 (2) fcaf111, 1-14. doi: 10.1093/braincomms/fcaf111

Appetite loss in patients with motor neuron disease: impact on weight loss and neural correlates of visual food cues

2024

Journal Article

Central neurodegeneration in Kennedy’s disease accompanies peripheral motor dysfunction

Tu, Sicong, Li, Tiffany, Carroll, Antonia S., Mahoney, Colin J., Huynh, William, Park, Susanna B., Henderson, Robert, Vucic, Steve, Kiernan, Matthew C. and Lin, Cindy S-Y (2024). Central neurodegeneration in Kennedy’s disease accompanies peripheral motor dysfunction. Scientific Reports, 14 (1) 18331. doi: 10.1038/s41598-024-69393-5

Central neurodegeneration in Kennedy’s disease accompanies peripheral motor dysfunction

2024

Journal Article

Assessing the effect of Riluzole on motor unit discharge properties

Shandiz, Ehsan, Fernandes, Gabriel Lima, Henkin, Joao Saldanha, McCombe, Pamela Ann, Trajano, Gabriel Siqueira and Henderson, Robert David (2024). Assessing the effect of Riluzole on motor unit discharge properties. Brain Sciences, 14 (11) 1053, 1053. doi: 10.3390/brainsci14111053

Assessing the effect of Riluzole on motor unit discharge properties

2024

Journal Article

Diagnosing late-onset Tay-Sachs through next generation sequencing and functional enzyme testing: from genes to enzymes

Tupil, Ajay R., Rivlin, Warwick, Mccombe, Pamela A., Henderson, Robert D., Rodgers, Jonathan and Vadlamudi, Lata (2024). Diagnosing late-onset Tay-Sachs through next generation sequencing and functional enzyme testing: from genes to enzymes. Neurology Genetics, 10 (6) e200205. doi: 10.1212/nxg.0000000000200205

Diagnosing late-onset Tay-Sachs through next generation sequencing and functional enzyme testing: from genes to enzymes

2024

Journal Article

Generation of human induced pluripotent stem cell lines from sporadic, sporadic frontotemporal dementia, familial SOD1, and familial C9orf72 amyotrophic lateral sclerosis (ALS) patients

Jiang, Leanne, Tracey, Timothy J., Gill, Melinder K., Howe, Stephanie L., Power, Dominique T., Bharti, Vanda, McCombe, Pamela A., Henderson, Robert D., Steyn, Frederik J. and Ngo, Shyuan T. (2024). Generation of human induced pluripotent stem cell lines from sporadic, sporadic frontotemporal dementia, familial SOD1, and familial C9orf72 amyotrophic lateral sclerosis (ALS) patients. Stem Cell Research, 78 103447, 1-6. doi: 10.1016/j.scr.2024.103447

Generation of human induced pluripotent stem cell lines from sporadic, sporadic frontotemporal dementia, familial SOD1, and familial C9orf72 amyotrophic lateral sclerosis (ALS) patients

2024

Journal Article

Stepping up for a practical biomarker of motor unit loss

Henderson, Robert David and Shandiz, Ehsan (2024). Stepping up for a practical biomarker of motor unit loss. Muscle & Nerve, 70 (1), 1-3. doi: 10.1002/mus.28110

Stepping up for a practical biomarker of motor unit loss

2024

Conference Publication

Identifying optimized assessment of nerve damage during chemotherapy

Li, Tiffany, Timmins, Hannah C, Mahfouz, Fawaz Mayez, Mizrahi, David, Horvath, Lisa, Harrison, Michelle L., Grimison, Peter S., Friedlander, Michael, Marx, Gavin M., Boyle, Frances M., Wyld, David, Henderson, Robert, King, Tracy, Baron-Hay, Sally E., Kiernan, Matthew C, Rutherford, Claudia, Goldstein, David and Park, Susanna B (2024). Identifying optimized assessment of nerve damage during chemotherapy. 2024 ASCO Annual Meeting, Chicago, IL United States, 31 May - 4 June 2024. Alexandria, VA United States: American Society of Clinical Oncology. doi: 10.1200/jco.2024.42.16_suppl.12016

Identifying optimized assessment of nerve damage during chemotherapy

2024

Journal Article

Verbal and nonverbal fluency in amyotrophic lateral sclerosis

Barker, Megan S., Ceslis, Amelia, Argall, Rosemary, McCombe, Pamela, Henderson, Robert D. and Robinson, Gail A. (2024). Verbal and nonverbal fluency in amyotrophic lateral sclerosis. Journal of Neuropsychology, 18 (2), 265-285. doi: 10.1111/jnp.12354

Verbal and nonverbal fluency in amyotrophic lateral sclerosis

2024

Journal Article

Neutrophil-to-lymphocyte ratio at diagnosis as a biomarker for survival of amyotrophic lateral sclerosis

Nona, Robert J., Henderson, Robert D. and McCombe, Pamela A. (2024). Neutrophil-to-lymphocyte ratio at diagnosis as a biomarker for survival of amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 25 (5-6), 452-464. doi: 10.1080/21678421.2024.2351187

Neutrophil-to-lymphocyte ratio at diagnosis as a biomarker for survival of amyotrophic lateral sclerosis

2024

Journal Article

Variation in resting metabolic rate affects identification of metabolic change in geographically distinct cohorts of patients with ALS

Holdom, Cory J., Janse van Mantgem, Mark R., He, Ji, Howe, Stephanie L., McCombe, Pamela A., Fan, Dongsheng, van den Berg, Leonard H., Henderson, Robert D., van Eijk, Ruben, Steyn, Frederik J. and Ngo, Shyuan T. (2024). Variation in resting metabolic rate affects identification of metabolic change in geographically distinct cohorts of patients with ALS. Neurology, 102 (5) e208117, 1-11. doi: 10.1212/wnl.0000000000208117

Variation in resting metabolic rate affects identification of metabolic change in geographically distinct cohorts of patients with ALS

2024

Journal Article

Gut symptoms, gut dysbiosis and gut-derived toxins in ALS

Lee, Aven, Henderson, Robert, Aylward, James and McCombe, Pamela (2024). Gut symptoms, gut dysbiosis and gut-derived toxins in ALS. International Journal of Molecular Sciences, 25 (3) 1871, 1-25. doi: 10.3390/ijms25031871

Gut symptoms, gut dysbiosis and gut-derived toxins in ALS

2024

Journal Article

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

Howe, Stephanie L., Holdom, Cory J., McCombe, Pamela A., Henderson, Robert D., Zigman, Jeffrey M., Ngo, Shyuan T. and Steyn, Frederik J. (2024). 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. European Journal of Neurology, 31 (1) e16052, e16052. doi: 10.1111/ene.16052

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

2023

Journal Article

Longitudinal changes in intrinsic motoneuron excitability in amyotrophic lateral sclerosis are dependent on disease progression

Trajano, Gabriel S., Orssatto, Lucas B. R., McCombe, Pamela A., Rivlin, Warwick, Tang, Lily and Henderson, Robert D. (2023). Longitudinal changes in intrinsic motoneuron excitability in amyotrophic lateral sclerosis are dependent on disease progression. The Journal of Physiology, 601 (21), 4723-4735. doi: 10.1113/jp285181

Longitudinal changes in intrinsic motoneuron excitability in amyotrophic lateral sclerosis are dependent on disease progression

2023

Journal Article

Proteomic investigation of ALS motor cortex identifies known and novel pathogenetic mechanisms

Lee, Aven, Henderson, Robert, Jayakody Arachchige, Buddhika, Robertson, Thomas and McCombe, Pamela Ann (2023). Proteomic investigation of ALS motor cortex identifies known and novel pathogenetic mechanisms. Journal of the Neurological Sciences, 452 120753, 120753. doi: 10.1016/j.jns.2023.120753

Proteomic investigation of ALS motor cortex identifies known and novel pathogenetic mechanisms

2023

Journal Article

RFC1 in an Australasian neurological disease cohort: extending the genetic heterogeneity and implications for diagnostics

Scriba, Carolin K, Stevanovski, Igor, Chintalaphani, Sanjog R, Gamaarachchi, Hasindu, Ghaoui, Roula, Ghia, Darshan, Henderson, Robert D, Jordan, Nerissa, Winkel, Antony, Lamont, Phillipa J, Rodrigues, Miriam J, Roxburgh, Richard H, Weisburd, Ben, Laing, Nigel G, Deveson, Ira W, Davis, Mark R and Ravenscroft, Gianina (2023). RFC1 in an Australasian neurological disease cohort: extending the genetic heterogeneity and implications for diagnostics. Brain Communications, 5 (4) fcad208, 1-14. doi: 10.1093/braincomms/fcad208

RFC1 in an Australasian neurological disease cohort: extending the genetic heterogeneity and implications for diagnostics

2023

Journal Article

COURAGE-ALS: a randomized, double-blind phase 3 study designed to improve participant experience and increase the probability of success

Shefner, Jeremy M., Al-Chalabi, Ammar, Andrews, Jinsy A., Chio, Adriano, De Carvalho, Mamede, Cockroft, Bettina M., Corcia, Philippe, Couratier, Philippe, Cudkowicz, Merit E., Genge, Angela, Hardiman, Orla, Heiman-Patterson, Terry, Henderson, Robert D., Ingre, Caroline, Jackson, Carlayne E., Johnston, Wendy, Lechtzin, Noah, Ludolph, Albert, Maragakis, Nicholas J., Miller, Timothy M., Mora Pardina, Jesus S., Petri, Susanne, Simmons, Zachary, Van Den Berg, Leonard H., Zinman, Lorne, Kupfer, Stuart, Malik, Fady I., Meng, Lisa, Simkins, Tyrell J. ... Rudnicki, Stacy A. (2023). COURAGE-ALS: a randomized, double-blind phase 3 study designed to improve participant experience and increase the probability of success. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 24 (5-6), 523-534. doi: 10.1080/21678421.2023.2216223

COURAGE-ALS: a randomized, double-blind phase 3 study designed to improve participant experience and increase the probability of success

2023

Journal Article

Sensitivity and specificity of the ECAS in identifying executive function and social cognition deficits in MND

Tjokrowijoto, Priscilla, Phillips, Mia, Ceslis, Amelia, Henderson, Robert D., McCombe, Pamela A. and Robinson, Gail A. (2023). Sensitivity and specificity of the ECAS in identifying executive function and social cognition deficits in MND. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 24 (5-6), 466-474. doi: 10.1080/21678421.2023.2188053

Sensitivity and specificity of the ECAS in identifying executive function and social cognition deficits in MND

2023

Journal Article

Use of hip- versus wrist-based actigraphy for assessing functional decline and disease progression in patients with motor neuron disease

Holdom, Cory J., van Unnik, Jordi W. J., van Eijk, Ruben P. A., van den Berg, Leonard H., Henderson, Robert D., Ngo, Shyuan T. and Steyn, Frederik J. (2023). Use of hip- versus wrist-based actigraphy for assessing functional decline and disease progression in patients with motor neuron disease. Journal of Neurology, 270 (5), 2597-2605. doi: 10.1007/s00415-023-11584-7

Use of hip- versus wrist-based actigraphy for assessing functional decline and disease progression in patients with motor neuron disease

2023

Journal Article

Case report: Adult-onset limb girdle muscular dystrophy in sibling pair due to novel homozygous LAMA2 missense variant

Katz, Matthew, Waddell, Leigh B., Yuen, Michaela, Bryen, Samantha J., Oates, Emily, Garton, Fleur C., Robertson, Thomas, Henderson, Robert David, Cooper, Sandra T. and McCombe, Pamela A. (2023). Case report: Adult-onset limb girdle muscular dystrophy in sibling pair due to novel homozygous LAMA2 missense variant. Frontiers in Neurology, 14 1055639, 1055639. doi: 10.3389/fneur.2023.1055639

Case report: Adult-onset limb girdle muscular dystrophy in sibling pair due to novel homozygous LAMA2 missense variant