Publications

Research supported by the MND Research Institute of Australia has led to more than 186 publications in peer reviewed journals since 2012.

These studies have advanced our understanding of the causes of MND, provided significant insights into many clinical aspects of MND, identified potential MND treatments now undergoing further testing as well as contributing to healthcare. A list of research publications is below.

MND Research Institute of Australia research pipeline

2017 
 
SC Andrews, M Staios, J Howe, K Reardon, F Fisher.
Multimodal emotion processing deficits are present in amyotrophic lateral sclerosis. Neuropsychology. (2017) 31(3):304-310.

SM Aoun, LJ Breen, D Oliver, RD Henderson, R Edis, M O’Connor, D Howting, R Harris, C Birks.
Family carers' experiences of receiving the news of a diagnosis of motor neurone disease: A national survey. Journal of Neurol Sci. (2017) 372:144-151.

B Benyamin, J He, Q Zhao, J Gratten, F Garton, P.J. Leo, Z Liu, M Mangelsdorf, A Al-Chalabi, L Anderson, T.J. Butler, L Chen, X Chen, K Cremin, H Deng, M Devine, J Edson, J.A. Fifita, S Furlong, Y Han, J Harris, A.K. Henders, R.L. Jeffree, Z Jin, Z Li, T Li, M Li, Y Lin, X Liu, M Marshall, E.P. McCann, B.J. Mowry, S.T. Ngo, R Pamphlett, S Ran, D.C. Reutens, D.B. Rowe, P Sachdev, S Shah, S Song, L Tan, L Tang, L.H. van den Berg, W van Rheenen, J.H. Veldink, R.H. Wallace, L Wheeler, K.L. Williams, J Wu, X Wu, J Yang, W Yue, Z Zhang, D Zhang, P.G. Noakes, I.P. Blair, R.D. Henderson, P.A. McCombe, P.M. Visscher, H Xu, P.F. Bartlett, M.A. Brown, N.R. Wray, D Fan.
Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis. Nat. Commun. (2017) 8, 611 doi:10.1038/s41467-017-00471-1
 
L Chen, C Watson, M Morsch, NJ Cole, RS Chung, DN Saunders, JJ Yerbury, KL Vine.
Improving the Delivery of SOD1 Antisense Oligonucleotides to Motor Neurons Using Calcium Phosphate-Lipid Nanoparticles. Front. Neurosci.,  30 Aug 2017, doi.org/10.3389/fnins.2017.00476ng [Epub before print] 

RM Clark, CA Blizzard, KM Young, AE King, TC Dickson.
Calretinin and Neuropeptide Y interneurons are differentially altered in the motor cortex of the SOD1G93A mouse model of ALS. Sci. Rep. (2017) 7, 44461. 

P Ciryam, I Lamber-Smith, D Bean, R Freer, F Cid, G Gaetano Tartalia, D Saunders, M Wilson, S Oliver, R Morimoto, C Dobson, M Vendrusculo, G Favrin, J Yerbury.
Spinal motor neuron protein supersaturation patterns are associated with inclusion body formation in ALS.PNAS 2017 ; published ahead of print April 10, 2017.

MA Farg, Konopka, KY Soo, Tao, JD Atkin.
The C9ORF72 repeat expansion induces DNA damage in ALS. Hum Mol Genet. (2017) Accepted.

JA Fifita, KL Williams, V Sundaramoorthy, EP Mccann, GA Nicholson, JD Atkin, IP Blair.
A novel amyotrophic lateral sclerosis mutation in OPTN induces ER stress and Golgi fragmentation in vitro. Amyotroph Lateral Scler Frontotemporal Degener. (2017) 18(1-2):126-133.

F Fisher, A Philpott, SC Andrews, R Maule, J Douglas.
Characterizing social communication changes in amyotrophic lateral sclerosis. Int. J. Lang. Commun. Disord. (2017) 52(2): 137-142.

MJ Fogarty, R Kanjhan, Y Yanagawa, PG Noakes PG, MC Bellingham.
Alterations in hypoglossal motor neurons due to GAD67 and VGAT deficiency in mice. Exp Neurol. (2017) 289:117-127. 

J Gratten, Q Zhao, B Benyamin, F Garton, J He, Leo P.J , M Mangelsdorf, L Anderson, Z Zhang, L Chen, X Chen, K Cremin, H Deng, J Edson, Y Han, J Harris, A K. Henders, Z Jin, Z Li, Y Lin, X Liu, M Marshall, B J. Mowry, S Ran, D C. Reutens, S Song, L Tan, L Tang, R H. Wallace, L Wheeler, J Wu, J Yang, H Xu, P M. Visscher, P F. Bartlett, M A. Brown, N R. Wray and D Fan.
Whole-exome sequencing in amyotrophic lateral sclerosis suggests NEK1 is a risk gene in Chinese. Genome Medicine (2017) 9:97, DOI 10.1186/s13073-017-0487-0.

JB Hilton, SW Mercer, NK Lim, NG Faux, G Buncic, JS Beckman, BR Roberts, PS Donnelly, AR White, PJ Crouch.
CuII(atsm) improves the neurological phenotype and survival of SOD1G93A mice and selectively increases enzymatically active SOD1 in the spinal cord. Sci Rep. 2017:42292.

Z Ioannides, F Steyn, R Henderson, P McCombe, S Ngo.
Anthropometric measures are not accurate predictors of fat mass in amyotrophic lateral sclerosis. Amyotroph Lateral Scler Frontotemporal Degener. (2017) accepted.

ZA Ioannides, F.J. Steyn, J.D. Mi, R.D. Henderson, P.A. McCombe, S.T. Ngo Predictions of resting energy expenditure in amyotrophic lateral sclerosis are greatly impacted by reductions in fat free mass. Cogent Medicine (2017), 4: 1343000 https://doi.org/10.1080/2331205X.2017.1343000

A Lee, SL Rayner, SSL Gwee, A De Luca, H Shahheydari, V Sundaramoorthy, A Ragagnin, M Morsch, R Radford, J Galper, S Freckleton, B Shi, AK Walker, EK Don, NJ Cole, S Yang, KL Williams, JJ Yerbury, IP Blair, JD Atkin, MP Molloy, RS Chung. 
Pathogenic mutation in the ALS/FTD gene, CCNF, causes elevated Lys48-linked ubiquitylation and defective autophagy. Cell. Mol. Life Sci. (2017) 29 Aug 2017. doi.org/10.1007/s00018-017-2632-8 [Epub ahead of print]

KM Lee, KK Chand, LA Hammond, NA Lavidis, PG Noakes.
Functional decline at the aging neuromuscular junction is associated with altered laminin-α4 expression. Aging (Albany NY). 2017 Mar 14. doi: 10.18632/aging.101198. [Epub ahead of print]

JD Lee, V Kumar, JN Fung, MJ Ruitenberg, PG Noakes, TM Woodruff.
Pharmacological inhibition of complement C5a-C5aR1 signalling ameliorates disease pathology in the hSOD1G93A mouse model of amyotrophic lateral sclerosis. Br J Pharmacol. (2017) accepted Jan 27.

BJ Main, KJ Rodgers.
Assessing the Combined Toxicity of BMAA and Its Isomers 2,4-DAB and AEG In Vitro Using Human Neuroblastoma Cells. Neurotoxicity Research (2017) DOI 10.1007/s12640-017-9763-4.
 
EP McCann, KL Williams, JA Fifita, IS Tarr, J O’Connor, DB Rowe, GA Nicholson, IP Blair. 
The genotype-phenotype landscape of familial amyotrophic lateral sclerosis in Australia. Clinical Genetics (2017) accepted Jan 20.
   
M Morsch, RAW Radford, EK Don, A Lee, E Hortle, NJ Cole, RS Chung.
Triggering Cell Stress and Death Using Conventional UV Laser Confocal Microscopy. Journal of Visualized Experiments (2017) Issue 120.

D Moujalled, A Grubman, K Acevedo, S Yang, YD Ke, DM Moujalled, C Duncan, A Caragounis, ND Perera, BJ Turner, M Prudencio, L Petrucelli, I Blair, LM Ittner, PJ Crouch, JR Liddell, AR White.
TDP-43 mutations causing amyotrophic lateral sclerosis are associated with altered expression of RNA-binding protein hnRNP K and affect the Nrf2 antioxidant pathway. Human Molecular Genetics (2017) 26(9):1732-1746.

ST Ngo, JD Mi, RD Henderson, PA McCombe, FJ Steyn.
Exploring targets and therapies for amyotrophic lateral sclerosis: current insights into dietary interventions. Degener Neurol Neuromuscul Dis. 25 July 2017

SR Shepheard, J Wuu, M Cardoso, L Wiklendt, PG Dinning, T Chataway, D Schultz, M Benatar, ML Rogers. 
Urinary p75ECD: A prognostic, disease progression, and pharmacodynamic biomarker in ALS. Neurology (2017) epub ahead of print.

HA Wang, JD Lee, KM Lee, TM Woodruff, PG Noakes.
Complement C5a-C5aR1 signalling drives skeletal muscle macrophage recruitment in the hSOD1G93A mouse model of amyotrophic lateral sclerosis. Skeletal Muscle (2017) 7(1):10.

2016 
 
RM Ahmed, M Irish, O Piguet, GM Halliday, L Ittner, S Farooqi, JR Hodges, MC Kiernan. Amyotrophic lateral sclerosis and frontotemporal dementia: distinct and overlapping changes in eating behavior and metabolism. Lancet Neurology (2016) 3:332-42.
 
RM Ahmed, J Caga, E Devenney, S Hsieh, L Bartley, E Highton-Williamson, E Ramsey, M Zoing, GM Halliday, O Piguet, JR Hodges.
Eating behavior and cognition in the ALS- FTD spectrum: effect on survival. J Neurology (2016) 263(8):1593-603.

S Aoun, L Breen, R Edis, R Henderson, D Oliver, R Harris, D Howting, M O’Connor, C Birks.
Breaking the news of a diagnosis of Motor Neurone Disease: A national survey of neurologists’ perspectives. Journal of the Neurological Sciences (2016) 367, 368-374. 

S Aoun, L Breen, D Howting, D Oliver, R Edis, R Henderson, M O’Connor, R Harris, C Birks.
Receiving the news of a diagnosis of Motor Neurone Disease: What does it take to make it better? Amyotrophic Lateral Sclerosis and Frontotemporal Degen. (2016) 17:168-178. 

J Bae*, M Ferguson*, RH Tan, E Mioshi, N Simon, J Burrell J, S Vucic, JR Hodges, MC Kiernan, M Hornberger. *Co-first authors.
Dissociation of structural and functional motor system integrity in Amyotrophic Lateral Sclerosis and behavioral variant Frontotemporal Dementia. J Clin Neurol. (2016) 12(2):209-17.

F Brahimi, M Maira, PF Barcelona PF, A Galan, T Aboulkassim, K Teske, ML Rogers, L Bertram, J Wang, M Yousefi, R Rush, M Fabian, N Cashman, HU Saragovi
The Paradoxical Signals of Two TrkC Receptor Isoforms Supports a Rationale for Novel Therapeutic Strategies in ALS. Plos One (2016) 11:e0162307.
 
DJ Berlowitz, ME Howard, JF Fiore, S Vander Hoorn, FJ Donoghue, J Westlake, A Smith, F Beer, S Mathers, P Talman,
Identifying who will benefit from non-invasive ventilation in amyotrophic lateral sclerosis/motor neurone disease in a clinical cohort. J Neurol Neurosurg Psychiatry (2016) 87(3):280-6.
 
CA Blizzard, KM Lee, TC Dickson.
Inducing chronic excitotoxicity in the mouse spinal cord to investigate lower motor neuron degeneration. Frontiers in Neuroscience (2016) 10:76.

EC Browne, S Parakh, LF Duncan, SJ Langford, JD Atkin, BM Abbott.
Efficacy of peptide nucleic acid and selected conjugates against specific cellular pathologies of amyotrophic lateral sclerosis. Bioorg Med Chem. (2016) 24 (7):1520-7. 

KK Chand, KM Lee, NA Lavidis, PG Noakes.
Loss of laminin-α4 results in pre- and postsynaptic modifications at the neuromuscular junction. FASEB J. 2016 Dec 20. pii: fj.201600899R. doi: 10.1096/fj.201600899R. [Epub ahead of print] 
 
JA Clark, SA Southam, CA Blizzard, AE King, T Dickson.
Axonal degeneration, distal collateral branching and neuromuscular junction archit alterations occur prior to symptom onset in the SOD1 mouse model of amyotrophic lateral sclerosis. Journal Chemical Neuroanatomy (2016) 76(Pt A):35-47
 
EK Don, I Formella, AP Badrock, TE Hall, M Morsch, E Hortle, A Hogan, S Chow, S Serene, L Gwee, JJ Stoddart, G Nicholson, R Chung, NJ Cole.
A Tol2 gateway-compatible toolbox for the study of the nervous system and neurodegenerative disease. Zebrafish (2016) 14(1), 69-72.

MA Farrar, HL Teoh, S Brammah, T Roscioli, M Cardamone.
Glial mitochondropathy in infantile neuroaxonal dystrophy: pathophysiological and therapeutic implications. Brain (2016) 139 (12): e67.

MJ Fogarty, PM Klenowski, JD Lee, JR Drieberg-Thompson, SE Bartlett, ST Ngo, MA Hilliard, MC Bellingham, PG Noakes.
Cortical synaptic and dendritic spine abnormalities in a presymptomatic TDP-43 model of amyotrophic lateral sclerosis. Sci Rep. (2016) 6:37968. 
 
MJ Fogarty, EWH Mu, PG Noakes, NA Lavidis, MC Bellingham.
Marked changes in dendritic structure and spine density precede significant neuronal death in vulnerable cortical pyramidal neuron populations in the SOD1G93A mouse model of amyotrophic lateral sclerosis. Acta Neuropathologica Communications (2016) 4:77, 1-21.
 
MJ Fogarty, R Kanjhan, M Bellingham PG. Noakes.
Glycinergic Neurotransmission: A potent regulator of embryonic motor neuron dendritic morphology and synaptic plasticity. Journal of Neuroscience (2016) 36(1) 80-87.
 
N Geevasinga, CT Loy, P Menon, M de Carvahlo, M Swash, M Schrooten, P Van Damme, M Gawel, M Sonoo, M Higashihara, Y Noto, S Kuwabara, MC Kiernan, P Macaskill, S Vucic.
Awaji criteria improves the diagnostic sensitivity in amyotrophic lateral sclerosis: a systematic review using individual patient data. Clinical Neurophysiology (2016) 127(7):2684-91.

GM Halliday, MC Kiernan, JJ Kril, H McCann, L Bartley, C Dobson-Stone, J Kwok, M Hornberger, JR Hodges, RH Tan.
TDP-43 in the hypoglossal nucleus identifies amyotrophic lateral sclerosis in behavioral variant frontotemporal dementia. J Neurol Sci. (2016) 366:197-201.
 
EE Handley EE, Pitman KA, Dawkins E, Young KM, Clark RM, Jiang TC, Turner BJ, Dickson TC, and CA Blizzard.
Synapse dysfunction of layer V pyramidal neurons precedes neurodegeneration in a mouse model of TDP-43 proteinopathies Cerebral Cortex (2016) [Epub ahead of print]
 
A Hogden, D Greenfield, J Caga, X Cai.
Development of patient decision support tools for motor neuron disease using stakeholder consultation: a study protocol. BMJ Open (2016) (4):e010532
 
J Howells, H Bostock, D Burke.
Accommodation to hyperpolarization of human axons assessed in the frequency domain. J Neurophysiol. (2016) 116(2):322-35.

S Hsieh, J Caga , FV Leslie, M Shibata, N Daveson, D Foxe, E Ramsey, P Lillo, RM Ahmed, E Devenney, JR Burrell, JR Hodges, MC Kiernan, E Mioshi.
Cognitive and Behavioral Symptoms in ALSFTD: Detection, Differentiation, and Progression. J Geriatr Psychiatry Neurol. (2016) (1):3-10. doi: 10.1177/0891988715598232
 
S Hsieh, M Irish, D Fox, J Caga, E Devenney, R Ahmed, JR Hodges, O Piguet, MC Kiernan.
My memories are important to me: Changes in autobiographical memory in amyotrophic lateral sclerosis. Neuropsychology (2016) (8):920-930.

R Kanjhan, MJ Fogarty, PG Noakes, MC Bellingham.
Developmental changes in the morphology of mouse hypoglossal motor neurons. Brain Struct Funct. (2016) 7:3755-86. 
 
ZA Ioannides, ST Ngo, RD Henderson, PA McCombe, FJ Steyn.
Altered metabolic homeostasis in Amyotrophic Lateral Sclerosis: Mechanisms of energy imbalance and contribution to disease progression. Neurodegenerative Diseases (2016) 16(5-6):382-97.

R Li, FJ Steyn, MB Stout, K Lee, TR Cully, JC Calderon, ST Ngo.
Development of a high-throughput method for real-time assessment of cellular metabolism in intact long skeletal muscle fibre bundles. J Physiol. (2016) 594(24):7197-7213.

BJ Main, RA Dunlop, KJ Rodgers.
The use of L-serine to prevent B-methylamino-L-alanine induced proteotoxic stress in vivo. Toxicon. (2016) 109, 7-12.

D Matusica, F Alfonsi, BJ Turner, TJ Butler, SR Shepheard, ML Rogers, S Skeldal, ClK Underwood, M Mangelsdorf, EJ. Coulson
Inhibition of motor neuron death in vitro and in vivo by a p75 neurotrophin receptor intracellular domain fragment. Journal of Cell Science (2016) 129:517-530.
 
P Menon, N Geevasinga, C Yiannikas, MC Kiernan, S Vucic.
Cortical contributions to the flail leg syndrome: Pathophysiological insights. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 2016:1-8.
Amyotroph Lateral Scler Frontotemporal Degener. (2016) 17(5-6):389-96.

AI Mot, JR Liddell, AR White, PJ Crouch PJ
Circumventing the Crabtree Effect: A method to induce lactate consumption and increase oxidative phosphorylation in cell culture. International Journal of Biochemistry & Cell Biology (2016) 79, 128 –138.

M Nivon, L Fort, P Muller, E Richet, S Simon, B Guey, M Fournier, AP Arrigo, C Hetz, JD Atkin, C Kretz-Remy.
NFκB is a central regulator of protein quality control in response to protein aggregation via autophagy modulation. Mol Biol Cell (2016) 27(11):1712-27.
 
ND Perera, RK Sheean, PJ Crouch, AR White, MK Horne, BJ Turner.
Enhancing survival motor neuron expression extends lifespan and attenuates neurodegeneration in mutant TDP-43 mice. Hum Mol Genet (2016) 25(18):4080-4093.
 
K Shibuya, S Park, N Geevasinga, P Menon, J Howells, NG Simon, W Huynh, Y Noto, J Götz, JJ Kril, LM Ittner, JR Hodges, GM Halliday, S Vucic & MC Kiernan.
Motor Cortical function determines prognosis in sporadic ALS. Neurology (2016) 87(5):513-20.

M Stoll, H Teoh, J Lee, S Reddel, Y Zhu, M Buckley, H Sampaio, T Roscioli, MA Farrar, F Nicholson F.
Novel motor phenotypes in patients with VRK1 mutations without pontocerebellar hypoplasia. Neurology (2016) 87(1), 65-70. 
 
RH Tan, JJ Kril, C McGinley, M Hassani, M Masuda-Suzkake, M Hasegawa, R Mito, MC Kiernan, GM Halliday.
Cerebellar neuronal loss in amyotrophic lateral sclerosis cases with ATXN2 intermediate repeat expansions. Ann Neurol. (2016) 79(2):295-305.

H Teoh, A Solyom, E Schuchman, D Mowat, T Roscioli, M Farra, H Sampaio. Polyarticular arthritis and Spinal Muscular Atrophy in acid ceramidase deficiency. Pediatrics (2016) 138(4) pii: e20161068.

D Whiten, R San Gil, L McAlary, J Yerbury, H Ecroyd, MR Wilson.
Flow cytometric measurement of protein inclusions and nuclear trafficking. Sci. Rep. (2016) 6: 31138.
 
KL Williams, S Topp, S Yang, B Smith, JA Fifita, ST Warraich, KY Zhang, N Farrawell, C Vance, X Hu, A Chesi, CS Leblond, A Lee, SL Rayner, V Sundaramoorthy, C Dobson-Stone, MP Molloy, M van Blitterswijk, DW Dickson, RC Petersen , NR Graff-Radford, BF Boeve, ME Murray, C Pottier, E Don, C Winnick, EP McCann, A Hogan, H Daoud, A Levert, PA Dion, J Mitsui, H Ishiura, Y Takahashi, J Goto, J Kost, C Gellera, AS Gkazi, J Miller, J Stockton, WS Brooks, K Boundy, M Polak, JL Muñoz-Blanco, J Esteban-Pérez, A Rábano, O Hardiman, KE Morrison, N Ticozzi, V Silani, J de Belleroche, JD Glass, JB Kwok, GJ Guillemin, RS Chung, S Tsuji, RH Brown, A García-Redondo, R Rademakers, JE Landers, AD Gitler, GA Rouleau, NJ Cole NJ, JJ Yerbury, JD Atkin, CE Shaw, GA Nicholson, IP Blair.
CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia. Nat Commun (2016) 7:11253.

DK Wright, S Liu, C van der Poel, SJ McDonald, RD Brady, L Taylor, L Yang, AJ Gardner, R Ordidge, TJ O’Brien, LA Johnston, SR Shultz.
Traumatic Brain Injury Results in Cellular, Structural and Functional Changes Resembling Motor Neuron Disease. Cereb Cortex (2016) 1-13. 

2015 
 
RM Ahmed, V, Iodice, N Daveson, MC Kiernan, O Piguet, JR Hodges.
Autonomic dysregulation in frontotemporal dementia. J Neurol Neurosurg Psychiatry (2015) 86(9):1048-9
 
RM Ahmed, C Kaizik, M Irish, E Mioshi, N Dermody, MC Kiernan, O Piguet, JR Hodges.
Characterizing sexual behaviours in Frontotemporal dementia. J Alzheimers Dis. (2015) 46(3):677-8.
 
RM Ahmed, Latheef S, Bartley L, M Irish, GM Halliday, MC Kiernan, JR Hodges, O Piguet.
Eating behavior in frontotemporal dementia: peripheral hormones versus hypothalamic pathology. Neurology. (2015) 85(15):1310-7.
 
RM Ahmed, R Newcombe, A Piper, SJ Lewis, BJ Yee, MC Kiernan, RR Grunstein.
Sleep disorders and respiratory function in Amyotrophic lateral sclerosis. Sleep Med Rev. (2015) 26:33-42.
 
RA Atkinson, CM Fernandez-Martos, JD Atkin, JC Vickers, AE King.
C9ORF72 expression and cellular localization over mouse development. Acta Neuropathol Commun. (2015) 3:59.
 
CA Blizzard, KA Southam, E Dawkins, KE Lewis, AE King, JA Clark, TC Dickson.
Identifying the primary site of pathogenesis in amyotrophic lateral sclerosis - vulnerability of lower motor neurons to proximal excitotoxicity. Dis Model Mech (2015) 8, 215-224.

J Caga, E Ramsey, A Hogden, E Mioshi, MC Kiernan.
A longer diagnostic interval is a risk for depression in amyotrophic lateral sclerosis. Palliat. Support Care (2015) 13(4):1019-24. doi: 10.1017/S1478951514000881. 
 
KK Chand, KM Lee, MP Schenning, NA Lavidis, PG Noakes.
Loss of β2-laminin alters calcium sensitivity and voltage-gated calcium channel maturation of neurotransmission at the neuromuscular junction. J Physiol. (2015) 593(1):245-65.
 
R Clark, C Blizzard and T Dickson.
Inhibitory dysfunction in amyotrophic lateral sclerosis: future therapeutic opportunities. Neurodegenerative disease management (2015) 5:511-525.

MS Devine, E Ballard, P O'Rourke, MC Kiernan, PA McCombe, RD Henderson. Targeted assessment of lower motor neuron burden is associated with survival in amyotrophic lateral sclerosis. Amyotroph Lateral Scler Frontotemporal Degener. (2015) 17(3-4):1-7. 

MS Devine, K Pannek, A Coulthard, PA McCombe, SE Rose, RD Henderson. Exposing asymmetric gray matter vulnerability in amyotrophic lateral sclerosis. Neuroimage Clin. (2015) 7:782-7.

M Fatima, R Tan, G Halliday, J Kril.
Spread of pathology in amyotrophic lateral sclerosis: Assessment of phosphorylated TDP-43 along axonal pathways. Acta Neuropathol Comms. (2015) 3:47.

MJ Fogarty, PG Noakes, MC Bellingham.
Motor cortex layer V pyramidal neurons exhibit dendritic regression, spine loss, and increased synaptic excitation in the presymptomatic hSOD1(G93A) mouse model of amyotrophic lateral sclerosis. J. Neurosci. (2015) 35(2):643-7. 
 
J He, L Tang, B Benyamin, S Shah, G Hemani, R Liu, S ye, X Liu, Y Ma, H Zhang, K Cremin, P Leo, N Wray, P Visscher, H Xu, MA Brown, PF Bartlett, M Mangelsdorf, D Fan.
C9orf72 hexanucleotide repeat expansions in Chinese sporadic amyotrophic lateral sclerosis. Neurobiology Aging (2016) 36(9):2660.
 
J Kamminga, FV Leslie, S Hsieh, J Caga, E Mioshi, M Hornberger, KJ Ballard, MC Kiernan, JR Hodges, JR Burrell.
Syntactic comprehension deficits across the FTD-ALS continuum. Neurobiol Aging (2016) 41:11-8.
 
ET Cirulli, BN Lasseigne, S Petrovski, PC Sapp, PA Dion, CS Leblond, J Couthouis,YF Lu, Q Wang, BJ Krueger, Z Ren, J Keebler, Y Han, SE Levy, BE Boone, JR Wimbish, LL Waite, AL Jones AL, JP Carulli, AG Day-Williams, JF Staropoli, WW Xin, A Chesi, AR Raphael, D McKenna-Yasek, J Cady, JM Vianney de Jong, KP Kenna, BN Smith, S Topp, J Miller, A Gkazi; FALS Sequencing Consortium (including KL Williams and I Blair) A Al-Chalabi et al.
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways. Science (2015) 347(6229):1436-41.
 
D Czesnik, J Howells, F Negro, M Wagenknecht, S Hanner, D Farina, D Burke, W Paulus. Increased HCN channel driven inward rectification in benign cramp fasciculation syndrome. Brain (2015) 138, 3168‐3179.
 
NE Farrawell, IA Lambert-Smith, ST Warraich, IP Blair, DN Saunders, DM Hatters, JJ Yerbury.
Distinct partitioning of ALS associated TDP-43, FUS and SOD1 mutants into cellular inclusions. Sci Rep. (2015) 5:13416.
 
JA Fifita, KL Williams, EP McCann, A O'Brien, DC Bauer, GA Nicholson, IP Blair.
Mutation analysis of MATR3 in Australian familial amyotrophic lateral sclerosis. Neurobiol Aging (2015) 36(3):1602.e1-2.
 
N Geevasinga, P Menon, J Howells, GA Nicholson, MC Kiernan, S Vucic.
Axonal ion channel dysfunction in c9orf72 familial amyotrophic lateral sclerosis.
JAMA Neurol. (2015) 72(1):49-57.
 
N Geevasinga, P Menon, GA Nicholson, K Ng, J Howells, JJ Kril, C Yiannikas, MC Kiernan, S Vucic.
Cortical function in asymptomatic carriers and patients with C9orf72 amyotrophic lateral sclerosis. JAMA Neurol (2015) 72, 1268‐1274.
 
N Geevasinga, P Menon, CM Sue, KR Kumar, K Ng, C Yiannikas, MC Kiernan, S Vucic. Cortical excitability changes distinguish the motor neuron disease phenotypes from hereditary spastic paraplegia. Eur J Neurol. (2015) 22(5):826-31.
 
NCG Kwai, R Arnold, AM Poynten, J Howells, MC Kiernan, CS Lin, AV Krishnan.
In vivo evidence of reduced nodal and paranodal conductances in type 1 diabetes. Clin Neurophysiol. (2015) 127,1700-1706.

JY Lee, JD Lee, S Phipps, PG Noakes, TM Woodruff.
Absence of toll-like receptor 4 (TLR4) extends survival in the hSOD1 G93A mouse model of amyotrophic lateral sclerosis. J Neuroinflammation (2015) 12:90. 
 
FV Leslie, S Hsieh, J Caga, SA Savage, E Mioshi, M Hornberger, MC Kiernan, JR Hodges, JR Burrell.
Semantic deficits in amyotrophic lateral sclerosis Amyotroph Lateral Scler Frontotemporal Degener. (2015) 16(1-2):46-53.
 
Y Liu, RA Atkinson, CM Fernandez-Martos, MT Kirkcaldie, H Cui, JC Vickers, AE King.
Changes in TDP-43 expression in development, aging, and in the neurofilament light protein knockout mouse. Neurobiol Aging (2015) 36(2):1151-9.
 
PA McCombe, C Pfluger, P Singh, CY Lim, C Airey, RD Henderson.
Serial measurements of phosphorylated neurofilament-heavy in the serum of subjects with amyotrophic lateral sclerosis. J Neurol Sci. (2015) 353(1-2):122-9.
 
D Moujalled, JL James, S Yang, K Zhang, C Duncan, DM Moujalled, SJ Parker, A Caragounis, G Lidgerwood, BJ Turner, JD Atkin, A Grubman, JR Liddell, C Proepper, TM Boeckers, KM Kanninen, I Blair, PJ Crouch, AR White.
Phosphorylation of hnRNP K by cyclin-dependent kinase 2 controls cytosolic accumulation of TDP-43. Hum Mol Genet. (2015) 24(6):1655-69.
 
P Menon, N Geevasinga, C Yiannikas, J Howells, MC Kiernan, S Vucic.
Sensitivity and specificity of threshold tracking transcranial magnetic stimulation for diagnosis of amyotrophic lateral sclerosis: a prospective study. Lancet Neurol. (2015) 14(5):478-84.

ST Ngo, FJ Steyn, L Huang, S Mantovani, CM Pfluger, TM Woodruff, JD O'Sullivan, RD Henderson, PA McCombe.
Altered expression of metabolic proteins and adipokines in patients with amyotrophic lateral sclerosis. J Neurol Sci. (2015) 357(1-2):22-27.

L Palamiuc, A Schlagowski, ST Ngo, A Vernay, S Grosc, A Henriques, A-L Boutillier, J Zoll, A Echaniz-Laguna, JP Loeffler, and F René.
A metabolic switch towards lipid use in glycolytic muscle is an early pathologic event in a mouse model of Amyotrophic Lateral Sclerosis. EMBO Molecular Medicine (2015) 7: 524-46.

SB Park, S Vucic, BC Cheaha, CS Lin, J Winhammar, A Kirby, KP Mann, MC Zoing, MC Kiernan.
Flecainide in amyotrophic lateral sclerosis as a neuroprotective strategy (FANS): A randomised placebo-controlled trial. EBioMedicine (2015) 2(12):1916-22.
 
RK Sheean, RH Weston, ND Perera, A D’Amico, SL Nutt, BJ Turner.
Effect of thymic stimulation of CD4+ T cell expansion on disease onset and progression in mutant SOD1 mice. J Neuroinflammation (2015) 12:40.
 
​NG Simon, MC Kiernan.
Precise correlation between structural and electrophysiological disturbance in MADSAM neuropathy. Neuromuscular Disord. (2015) 25(11): 904-907.

NG Simon, J Lagopoulos, T Gallagher, M Kliot, MC Kiernan.
Peripheral nerve diffusion tensor imaging is reliable and reproducible. J Magn Reson Imaging (20154:962-9.

NG Simon, CS Lin, M Lee, J Howells, S Vucic, D Burke, MC Kiernan.
Segmental motoneuronal dysfunction is a feature of amyotrophic lateral sclerosis. Clin Neurophysiol (2015) 126, 828‐836.
  
NG Simon, M Lee, JS Bae, E Mioshi, CS-Y Lin, CM Pfluger, RD Henderson, S Vucic, M Swash, D Burke, MC Kiernan.
Dissociated lower limb muscle involvement in amyotrophic  lateral sclerosis. J Neurol. (2015) 262:1424-1432.

KS Smith, RA Rush, ML Rogers.
Characterization and changes in neurotrophin receptor p75-Expressing motor neurons in SOD1(G93A) G1H mice [corrected]. J Comp Neurol. (2015) 523:1664-1682.
 
KY Soo, M Halloran, V Sundaramoorthy, S Parakh, KA Southam, P Lock, A King, MA Farg, JD Atkin.
Rab1-dependent ER-Golgi transport dysfunction is a common pathogenic mechanism in SOD1, TDP-43 and FUS-associated ALS. Acta Neuropathologica (2015) 130(5):679-97.
 
KY Soo, J Sultana, AE King, R Atkinson, ST Warraich, V Sundaramoorthy, I Blai, MA Farg, JD Atkin.
ALS-associated mutant FUS inhibits macroautophagy, which is restored by overexpression of Rab1. Cell Death Discovery (2015) 1:105030.
 
V Sundaramoorthy, AK Walker, V Tan,  JA Fifita, EP Mccann, KL Williams, IP Blair, GJ Guillemin, MA Farg, JD Atkin.
Defects in optineurin and myosin VI-mediated cellular trafficking in amyotrophic lateral sclerosis. Hum Mol Genet. (2015) 24(13):3830-46.

RH Tan, E Devenney, M Kiernan, G Halliday, J Hodges, M Hornberger.
Terra incognita-Cerebellar contributions to neuropsychiatric and cognitive dysfunction in behavioral variant frontotemporal dementia. Frontiers in Aging Neuroscience (2015) 7:121.

RH Tan, J Kril, M Fatima, A McGeachie, H McCann, C Shepherd, S Forrest, A Affleck, J Kwok, J Hodges, M Kiernan, G Halliday.
TDP-43 Proteionpathies: Pathological identification of brain regions differentiating clinical phenotypes. Brain (2015) 138(Pt 10):3110-22.

KI Watt, BJ Turner, A Hagg, X Zhang, JR Davey, H Qian, C Beyer, CE Winbanks, KF Harvey, P Gregorevic.
The Hippo pathway effector YAP is a critical regulator of skeletal muscle fibre size. Nat Commun. (2015) 6:6048.
 
KL Williams, EP McCann, JA Fifita, KY Zhang, E Duncan, P Leo, M Marshall, DB Rowe, GA Nicholson, IP Blair.
Novel TBK1 truncating mutation in a familial amyotrophic lateral sclerosis patient of Chinese origin. Neurobiol Aging (2015) 36(12):3334.
 
S Yang, KY Zhang, R Kariawasam, M Bax, JA Fifita, L Ooi, JJ Yerbury, GA Nicholson, IP Blair.
Evaluation of skin fibroblasts from amyotrophic lateral sclerosis patients for the rapid study of pathological features. Neurotox Res. (2015) 28(2):138-46
 
2014 
 
JR Acosta, C Goldsbury, C Winnick, AP Badrock, ST Fraser, AS Laird, TE Hall, EK Don, JA Fifita, IP Blair, GA Nicholson, NJ Cole.
Mutant human FUS Is ubiquitously mislocalized and generates persistent stress granules in primary cultured transgenic zebrafish cells. PLoS One (2014) 9(6):e90572.
 
RM Ahmed, M Macmillan, L Bartley, G Halliday, MC Kiernan, JR Hodges, O Piguet.
Systemic metabolism in frontotemporal dementia. Neurology (2014) 83: 1812-1818.
 
RM Ahmed, E Mioshi, J Caga, M Shibata, M Zoing, L Bartley, O Piguet, JR Hodges, MC Kiernan.
Body mass index delineates ALS from FTD. Implications for metabolic health. J Neurol. (2014) 261(9):1774-80.
 
RM Ahmed, M Irish, J Kam, J van Keizerswaard, L Bartley, K Samaras, JR Hodges, O Piguet.
Quantifying the eating abnormalities in frontotemporal dementia. JAMA Neurol. (2014) 71:1540-1546.

JD Atkin, MA Farg, KY Soo, AK Walker, M Halloran, BJ Turner, P Nagley, MK Horne.
Mutant SOD1 inhibits ER to golgi cellular trafficking and rescued by COPII in ALS. J Neurochem (2014) 129(1):190-204. 

TNT Dang, NKH Lim, A Grubman, QX Li, I Volitakis AR White, PJ Crouch.
Increased metal content in theTDP43(A315T) transgenic mouse model of frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Front Aging Neurosci. (2014) 6:15.

E Devenney, M Hornberger, M Kiernan, RH Tan, J Burrell, J Hodges. Frontotemporal dementia associated with the C9ORF72 mutation: a unique clinical profile. JAMA Neurology (2014) 71(3):331-9.

MS Devine, MC Kiernan, S Heggie, PA McCombe, RD Henderson.
Study of motor asymmetry in ALS indicates an effect of limb dominance on onset and spread of weakness, and an important role for upper motor neurons. Amyotroph Lateral Scler Frontotemporal Degener. (2014) 15:481–487.

C Drovandi, AN Pettitt, RD Henderson, PA McCombe.
Marginal reversible jump markov chain Monte Carlo with application to motor unit number estimation. Computational Statistics and Data Analysis (2014) 72:128-146.
 
MA Farg, V Sundaramoorthy, JM Sultana, S Yang, RA Atkinson, V Levina, MA Halloran, PA Gleeson, IP Blair, KY Soo, AE King, JD Atkin.
C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking. Hum Mol Genet. (2014) 23(13):3579-95.
 
N Geevasinga, P Menon, C Yiannikas, MC Kiernan, S Vucic.
Diagnostic utility of cortical excitability studies in amyotrophic lateral sclerosis.
Eur J Neurol. (2014) 21(12):1451-7.
 
N Geevasinga, P Menon, MC Kiernan, S Vucic.
Motor cortical function and the precision grip. Physiol Rep. (2014) 11;2(12).

LI Grada, JJ. Yerbury, BJ Turner, WC Guesta, E Pokrishevskya, MA O’Neilla,
A Yanaia, JM Silvermana, R Zeineddineb, L Corcoranb, JR Kumitad, LM Luheshid, M Yousefia, BM Colemane, AF Hille, SS Plotkinf, IR Mackenzie, NR Cashmana.
Intercellular propagated misfolding of wild-type Cu/Zn superoxide dismutase occurs via exosome-dependent and -independent mechanisms. Proc Natl Acad Sci USA (2014) 111(9):3620-5.

ND Perera, RK Sheean, JW Scott, BE Kemp, MK Horne, BJ Turner.
Mutant TDP-43 deregulates AMPK activation by PP2A in ALS models. PLoS One (2014) 9:3, e90449.

BR Roberts, NKH Lim, EJ McAllum, PS. Donnelly, DJ Hare, PA Doble, BJ Turner, KA Price, SC Lim, BM. Paterson, JL Hickey, TW. Rhoads, JR Williams, KM Kanninen, LW Hung, JR. Liddell, A Grubman, JF Monty, RM Llanos, DR Kramer, JFB Mercer, AI Bush, CL Masters, JA Duce, QX Li, JS Beckman, KJ Barnham, AR White, PJ Crouch.
Oral treatment with CuII(atsm) increases mutant SOD1 in vivo but protects motor neurons and improves the phenotype of a transgenic mouse model of amyotrophic lateral sclerosis. J Neurosci. (2014) 34(23):8021-31.

ML Rogers, KS Smith, D Matusica, M Fenech, L Hoffman, RA Rush, NH Voelcker.
Non-viral gene therapy that targets motor neurons in vivo. Frontiers in Molecular Neuroscience (2014) 7:80.
 
BN Smith, N Ticozzi, C Fallini, AS Gkazi, S Topp, KP Kenna, EL Scotter, J Kost, P Keagle, JW Miller, D Calini, C Vance, EW Danielson, C Troakes, C Tiloca, S Al-Sarraj, EA Lewis, A King, C Colombrita, V Pensato, B Castellotti, J de Belleroche, F Baas, AL ten Asbroek, PC Sapp, D McKenna-Yasek, RL McLaughlin, M Polak, S Asress, J Esteban-Pérez, JL Muñoz-Blanco, M Simpson; SLAGEN Consortium., W van Rheenen, FP Diekstra, G Lauria, S Duga, S Corti, C Cereda, L Corrado, G Sorarù, KE Morrison, KL Williams, GA Nicholson, IP Blair, PA Dion, CS Leblond, GA Rouleau, O Hardiman, JH Veldink, LH van den Berg, A Al-Chalabi, H Pall, PJ Shaw, MR Turner, K Talbot, F Taroni, A García-Redondo, Z Wu, JD Glass, C Gellera, A Ratti, RH Brown, V Silani, CE Shaw, JE Landers.
Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS. Neuron (2014) 84(2):324-31.

S Mantovani, R Gordon, JK Macmaw, CM Pfluger, RD Henderson, PG Noakes, PA McCombe, TM Woodruff.
Elevation of the terminal complement activation products C5a and C5b-9 in ALS patient blood. J Neuroimmunol. (2014) 276(1-2):213-8.

E Mioshi, J Caga, P Lillo, S Hsieh, E Ramsey, E Devenney, M Hornberger, JR Hodges, MC Kiernan.
Neuropsychiatric changes precede classic motor symptoms in ALS and do not affect survival. Neurology (2014) 82(2):149-55. doi: 10.1212/WNL.0000000000000023. 
 
E Mioshi, S Hsieh, J Caga, E Ramsey, K Chen, P Lillo, N Simon, S Vucic, M Hornberger, JR Hodges, MC Kiernan.
A novel tool to detect behavioural symptoms in ALS. Amyotroph Lateral Scler Frontotemporal Degener. (2014) 15(3-4):298-304.
 
SB Park, CS Lin, AV Krishnan, NG Simon, H Bostock, A Vincent, MC Kiernan.
Axonal dysfunction with voltage gated potassium channel complex antibodies. Exp Neurol. (2014) 261:337-42.
 
N Sheers, DJ Berlowitz, L Rautela, I Batchelder, K Hopkinson, ME Howard.
Improved survival with an ambulatory model of non-invasive ventilation implementation in motor neuron disease.  Amyotrophic Lateral Sclerosis & Frontotemporal Degen. (2014) 15(3): 180-184.
 
SR Shepheard, T Chataway, DW Schultz, RA Rush, ML Rogers.
The extracellular domain of neurotrophin receptor p75 as a candidate biomarker for amyotrophic lateral sclerosis. PLoS ONE, 9 (2014) e87398.
 
NG Simon, J Narvid, T Cage, S Banerjee, JW Ralph, JW Engstrom, M Kliot, C Chin.
Visualizing axon regeneration after peripheral nerve injury with magnetic resonance tractography. Neurology (2014) 83(15):1382-4.
 
NG Simon, JW Ralph, AN Poncelet, JW Engstrom, C Chin, M Kliot.
A comparison of ultrasonographic and electrophysiologic 'inching' in ulnar neuropathy at the elbow. Clin Neurophysiol. (2015) 126(2):391-8.

NG Simon, JW Ralph, C Lomen-Hoerth, A Poncelet, S Vucic, MC Kiernan, M Kliot. Quantitative ultrasound of denervated hand muscles. Muscle Nerve (2014) 52(2):221-30.
 
NG Simon, T Cage, J Narvid, R Noss, C Chin, M Kliot.  
High-resolution ultrasonography and diffusion tensor tractography map normal nerve fascicles in relation to schwannoma tissue prior to surgical resection. J Neurosurg. (2014) 120(5):1113-7.
 
NG Simon, C Lomen-Hoerth, MC Kiernan.
Patterns of clinical and electrodiagnostic abnormalities in early amyotrophic lateral sclerosis. Muscle Nerve (2014) 50(6):894-9.
 
NG Simon, S Vucic, R Joffe, MC Kiernan.
Cortical Dysfunction in cerebellar ataxia with antibodies to glutamic acid decarboxylase. J Neurol. (2014) 261(1): 238-9.

RH Tan, E Devenney, C Dobson-Stone, J Kwok, J Hodges, M Kiernan, G Halliday, M Hornberger.
Cerebellar integrity in the Amyotrophic Lateral Sclerosis-Frontotemporal Dementia continuum. PLoS ONE (2014) 9(8): e105632. 

RH Tan, S Wong, J Kril, O Piguet, M Hornberger, J Hodges, G Halliday.
Beyond the temporal pole-Limbic memory circuit in semantic variant of primary progressive aphasia. Brain (2014)137(Pt 7):2065-76.

BJ Turner, N Alfazema, RK Sheean, JN Sleigh, KE Davies, MK Horne, K Talbot.
Overexpression of survival motor neuron improves neuromuscular function and motor neuron survival in mutant SOD1 mice. Neurobiol Aging (2014) 35(4):906-15.
 
TM Woodruff, JD Lee, PG Noakes.
Role for terminal complement activation in amyotrophic lateral sclerosis disease progression. Proc Natl Acad Sci USA (2014) 111(1):E3-4.
 
KY Zhang, S Yang, ST Warraich, IP Blair.
Ubiquilin 2: a component of the ubiquitin-proteasome system with an emerging role in neurodegeneration. Int J Biochem Cell Biol. (2014) 50:123-6.
 
2013 
 
JD Atkin, MA Farg,  KY Soo, AK Walker, M Halloran, BJ Turner, MK Horne.
Mutant SOD1 inhibits ER-Golgi transport in Amyotrophic Lateral Sclerosis. J Neuroinflammation (2013) 10:119.
 
A Chesi, BT Staahl, A Jovičić, J Couthouis, M Fasolino, AR Raphael, T Yamazaki, L Elias, M Polak, C Kelly, KL Williams, JA Fifita, NJ Maragakis, GA Nicholson, OD King, R Reed, GR Crabtree, IP Blair, JD Glass, AD Gitler.
Exome sequencing to identify de novo mutations in sporadic ALS trios. Nat Neurosci. (2013) 16(7):851-5.
 
M Devine, A Farrell, H Woodhouse, PA McCombe, RD Henderson.
A developmental perspective on bulbar involvement in amyotrophic lateral sclerosis. Amyotroph Lateral Scler Frontotemporal Degener. (2013) 14(7-8):638-9.

MS Devine, H Woodhouse, PA McCombe, RD Henderson.
The relationship between limb dominance, disease lateralisation and spread of weakness in amyotrophic lateral sclerosis. Amyotroph Lateral Scler Frontotemporal Degener. (2013) 14(2):150-1.

RA Dunlop, PA Cox, S Banack, KJ Rodgers.
The non-protein amino acid BMAA is misincorporated into human proteins in place of L-Serine causing protein misfolding and aggregation. PLoS ONE (2013) 8(9): e75376.
 
MA Farg, KY Soo, TS Warraich, V Sundarmoorthy, IP Blair, JD Atkin.
Ataxin 2 Interacts with FUS and Intermediate Length Polyglutamine Expansions Increase FUS-mediated Toxicity in ALS. Hum. Mol. Genetics (2013) 22 (4) 479, 717-728.

S Hsieh, P Lillo, MC Kiernan, JR Hodges, E Mioshi.
When more is needed: the utility of the frontotemporal dementia scale in ALS. Amyotroph. Lateral Scler. Frontotemporal Degener. (2013) (3):169-71. doi: 10.3109/21678421.2013.764899. 
 
AE King, KA Southam, J Dittmann, JC Vickers.
Excitotoxin-induced caspase-3 activation and microtubule disintegration in axons is inhibited by taxol. Acta Neuropathol Commun. (2013) 1:59.
 
JD Lee, NA Kamaruzaman, JNT Fung, SM Taylor, BJ Turner, JD Atkin, TM Woodruff, PG Noakes.
Dysregulation of the complement cascade in the hsod1G93A transgenic mouse model of amyotrophic lateral sclerosis J. Neuroinflammation (2013) 10:119.

EJ Mcallum, NKH Lim, JL Hickey, BM Paterson, PS Donnelly, QX Li, JR Liddell, KJ Barnham, AR White, PJ Crouch.
Therapeutic effects of Cu II (atsm) in the SOD1-G37R mouse model of amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis and Frontotemporal Degen. (2013) 14: 586-590.
 
E Mioshi, P Lillo, B Yew, S Savage, S Hsieh, JR Hodges, MC Kiernan, M Hornberger.
Cortical atrophy in ALS is critically associated with neuropsychiatric and cognitive changes. Neurology (2013) 80(12):1117-23.

D Moujalled, JL James, SJ Parker, GE Lidgerwood, C Duncan, J Meyerowitz, T Nonaka, M Hasegawa, KM Kanninen, A Grubman, JR Liddell, PJ Crouch, AR White.
Kinase inhibitor screening identifies cyclin-dependent kinases and glycogen synthase kinase 3 as potential modulators of TDP-43 cytosolic accumulation during cell stress. PLoS One (2013) 26;8(6):e67433.

NG Simon, G Ayers, C Lomen-Hoerth.
Is IVIG warranted in progressive lower motor neuron syndromes without conduction block? Neurology (2013) 81(24):2116-20.
 
NG Simon, JW Ralph, C Chin, M Kliot.
Sonographic diagnosis of true neurogenic thoracic outlet syndrome. Neurology (2013) 81(22):1965.
 
NG Simon, MC Kiernan.
Fasciculation anxiety syndrome in clinicians. J Neurol. (2013) 260(7): 1743-7.
 
NG Simon, SW Reddel, MC Kiernan, R Layzer.
MuSK antibodies – A novel cause of peripheral nerve hyperexcitability? Muscle Nerve (2013) 48(5): 819-23.

KA Southam, AE King, CA Blizzard, GH McCormack GH and TC Dickson.
Microfluidic primary culture model of the lower motor neuron – neuromuscular junction circuit. Journal of Neuroscience Methods (2013) 218:164-169.
 
FJ Steyn, K Lee, MJ Fogarty, JD Veldhuis, PA McCombe, MC Bellingham, ST Ngo, C Chen.
Growth hormone secretion is correlated with neuromuscular innervation rather than motor neuron number in early-symptomatic male amyotrophic lateral sclerosis mice. Endocrinology (2013) 154(12):4695-706.
 
V Sundaramoorthy,  AK Walker, J Yerbury, KY Soo, MA Farg, V Hoang, R Zeineddine, JD Atkin.
Extracellular wildtype and mutant SOD1 induces ER-Golgi pathology characteristic of amyotrophic lateral sclerosis in neuronal cells. Cell Mol Life Sci. (2013) 70(21):4181-95.
 
Y Takahashi, Y Fukuda, J Yoshimura, A Toyoda, K Kurppa, H Moritoyo, VV Belzil, PA Dion, K Higasa, K Doi, H Ishiura, J Mitsui, H Date, B Ahsan, T Matsukawa, Y Ichikawa, T Moritoyo, M Ikoma, T Hashimoto, F Kimura, S Murayama, O Onodera, M Nishizawa, M Yoshida, N Atsuta, G Sobue; JaCALS., JA Fifita, KL Williams, IP Blair, GA Nicholson, P Gonzalez-Perez, RH Brown, M Nomoto, K Elenius, GA Rouleau, A Fujiyama, S Morishita, J Goto, S Tsuji.
ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19. Am J Hum Genet. (2013) 93(5):900-5.
 
AK Walker, Y Ma, KY Soo, V Sundaramoothy, RH Wallace, BJ Turner, MA Farg, P Crouch, MK Horne, JD Atkin.
ALS-associated TDP-43 induces endoplasmic reticulum stress, which drives cytoplasmic TDP-43 accumulation and stress granule formation. PLoS One (2013) 8(11):e81170.

CE Winbanks, JL Chen, H Qian, Y Liu, BC Bernardo, C Beyer, KI Watt, RE Thomson, T Connor, BJ. Turner, JR McMullen, L Larsson, SL McGee, CA Harrison, P Gregorevic.
The bone morphogenetic protein axis is a positive regulator of skeletal muscle mass. J Cell Biol. (2013) 203(2):345-57.
 
KL Williams, JA Fifita, S Vucic, JC Durnall, MC Kiernan, IP Blair, GA Nicholson.
Pathophysiological insights into ALS with C9ORF72 expansions. J Neurol Neurosurg Psychiatry (2013) 84(8):931-5.
 
JJ Yerbury, D Gower, L Vanags, K Roberts, J Lee, H Ecroyd.
The small heat shock proteins aS-crystallin and Hsp27 suppress SOD1 aggregation in vitro. Cell Stress and Chaperones (2013) 18(2), 251-257.
 
S Yang, JA Fifita, KL Williams, ST Warraich, R Pamphlett, GA Nicholson, IP Blair.
Mutation analysis and immunopathological studies of PFN1 in familial and sporadic amyotrophic lateral sclerosis. Neurobiol Aging (2013) 34(9):2235.e7-10.
 
2012 

RS Anderton, LL Price, BJ Turner, BP Meloni, C Mitrpant, FL Mastaglia, C Goh, SD Wilton, S Boulos.
Co-regulation of survival of motor neuron and Bcl-xL expression: implications for neuroprotection in spinal muscular atrophy. Neuroscience (2012) 220:228-36.
 
F Baumann, RD Henderson, PG Ridall, AN Pettitt,  PA McCombe.
Quantitative studies of  lower motor neuron  degeneration  in amyotrophic  lateral  sclerosis: evidence  for exponential decay of motor unit numbers and greatest rate of loss at the site of onset. Clinical Neurophysiology (2012) 123:2092-2098.
 
F Baumann, RD Henderson, PG Ridall, AN Pettitt, PA McCombe.
Use of Bayesian MUNE to show differing rate of loss of motor units in subgroups of ALS. Clinical Neurophysiology (2012) 123:2446-2453.
 
J Couthouis, MP Hart, R Erion, OD King, Z. Diaz, T. Nakaya, F Ibrahim, HJ Kim, J Mojsilovic­ Petrovic, S Panossian, CE Kim, EC Frackelton, JA Solski, KL Williams, D Clay-Falcone, L Elman, L McCluskey, R Greene, H Hakonarson, RG Kalb, VM Lee, JQ Trojanowski, GA Nicholson, IP Blair, NM Bonini, VM Van Deerlin, Z Mourelatos, J Shorter and AD Giller.
Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis. Hum Mol Genet. (2012) 21(13): 2899-2911.

MA Farg, KY Soo, AK Walker, H Pham, J Orian, ST Warraich, KL Williams, IP Blair, JD Atkin.
Mutant FUS induces ER Stress in ALS and interacts with Protein Disulphide Isomerase. Neurobiol. of Aging (2012) 33: 2855–2868.

AE King, CA Blizzard, KA Southam, JC Vickers, TC Dickson.
Degeneration of axons in spinal white matter in G93A mSOD1 mouse characterized by NFL and alpha internexin immunoreactivity. Brain Res. (2012) 1465:90-100.

AE King, KA Hosie, CA Blizzard, JC Vickers, TC Dickson.
Chronic excitotoxin-induced axon degeneration in a compartmented neuronal culture model. ASN Neuro. (2012) 23;4(1).
 
ST Ngo, F Baumann, PG Ridall, AN Pettitt, RD Henderson, MC Bellingham, PA McCombe.
The relationship between Bayesian motor unit number estimation and histological measurements of motor neurons in wild-type and SOD1G mice. Clinical Neurophysiology (2012) 123:2080-2091​

CL Lin, C Pfluger, RD Henderson, PA McCombe.
Reduced levels of interleukin 33 and increased levels of soluble ST2 in subjects with amyotrophic lateral sclerosis. Journal of Neuroimmunology (2012) 249(1-2): 93-5.

EM Maathuis, RD Henderson, J Drenthen, NM Hutchinson, JR Daube, JH Blok, GH Visser.
Optimal stimulation settings for CMAP scan registrations. J Brachial Plex Peripher Nerve Inj. (2012) 7(1):4.
 
RK Narayanan, M Mangelsdorf, A Panwar, TJ Butler, PG Noakes, RH Wallace.
Identification of RNA bound to the TDP-43 ribonucleoprotein complex in the adult mouse brain. Amyotroph Lateral Scler Frontotemporal Degener. (20130 14(4):252-60.

D Raffelt, D Tournier, S Rose, GR Ridgway, RD Henderson, S Crozier, O Salvado, A Connelly.
Apparent fibre density: A novel measure for the analysis of diffusion-weighted magnetic resonance imaging. Neuroimage (2012) 59(4):3976-94.
 
S Rose, K Pannek, C Bell, F Baumann, N Hutchinson, A Coulthard, P McCombe, R Henderson.
Direct evidence of intra- and interhemispheric corticomotor network degeneration in amyotrophic lateral sclerosis: an automated MRI structural connectivity study. Neuroimage (2012) 59(3):2661-9.

NG Simon, MC Kiernan.
Common peroneal neuropathy and cancer. Internal Medicine Journal (2012) 42(7): 837-40.
 
S Shepheard, T Chatawa, D Schultz, A Moey, RA Rush and ML Rogers.
Body Fluid Biomarkers for Motor neuron Disease. Amyotrophic Lateral Sclerosis (2012) 13(S1): 58.
 
JA Solski, S Yang, GA Nicholson, N Luquin, KL Williams, R Fernando, R. Pamphlet, IP Blair
A novel TARDBP insertion/deletion mutation in the flail arm variant of amyotrophic lateral sclerosis. Amyotroph Lateral Scler (2012) 13(5): 465-470.
 
JA Solski, KL Williams, S Yang, GA Nicholson, IP Blair.
Mutation analysis of the optineurin gene in familial amyotrophic lateral sclerosis. Neurobiol Aging (2012) 33(1): 210 e219-210.

KY Soo, JD Atkin , MA Farg, AK Walker, MK Horne, P Nagley.
Bim links ER stress and Apoptosis in Cells Expressing Mutant SOD1 Associated with ALS. PLosOne (2012) 7(4): 35413.

FJ Steyn, ST Ngo, JD Lee, JW Leong, AJ Buckley, JD Veldhuis, PA McCombe, C Chen, MC Bellingham.
Impairments to the GH-IGF-I axis in hSOD1G93A mice give insight into possible mechanisms of GH dysregulation in patients with amyotrophic lateral sclerosis. Endocrinology (2012) 153(8):3735-3746.
 
A Walker, KY Soo, V Levina, G Talbo, JD Atkin.
N-linked Glycosylation Modulates Dimerization of Protein Disulfide Isomerase Family A Member 2. FEBS J. Vol. 280(1):233-243. 

KL Williams, ST Warraich, S Yang, JA Solski, R Fernando, GA Rouleau, GA Nicholson and IP Blair.
UBQLN2/ubiquilin 2 mutation and pathology in familial amyotrophic lateral sclerosis. Neurobiol Aging (2012) 33 (10): 2527 e2523-2527 e2510.
 
KL Williams, JA Solski, GA Nicholson, IP Blair.
Mutation analysis ofVCP in familial and sporadic amyotrophic lateral sclerosis. Neurobiol Aging (2012) 33(7): 1488 e1415-1486.
 

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