Associate Professor John Kwok

Principal Research Fellow
Central Clinical School
Brain and Mind Centre

Member of the Brain and Mind Centre


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Biographical details

I am a career scientist who was awarded my Bacholor of Science (Honours class I) from the University of Sydney, Australia in 1989. I was then awarded my PhD in 1994 from the University of Cambridge, England. I then worked as a post-doctoral scientist at the Garvan Institute from 1995. During this time, I was awarded two prestigious NHMRC fellowships. In 2005, I was made conjoint senior lecturer in recognition of my publication of scientific journals and students I have co-supervised from the University of New South Wales (UNSW). In 2006 I was recruited to Neuroscience Research Australia (NeuRA) to head a research laboratory focussing on the genetics and molecular biology of neurodegenerative diseases. In 2017, my team was recruited to the Brain and Mind Centre – University of Sydney to head a Neurogenetics and Epigenetics Laboratory, and has allowed me to build a vibrant research team by recruiting junior and senior research officers.

Research interests

My key research areas:

1) Neurodegeneration: Neurodegenerative diseases result in the progressive damage or death of neurons, leading to a gradual deterioration of the bodily functions controlled by the affected part of the nervous system. My research focus on the three most common causes of neurodegeneration in theelderly, Alzheimer’s disease (AD), Parkinson’s disease (PD) and Frontotemporal dementia (FTD).

2) Gene mutation and early-onset disease. A Mendelian, or single gene disease, is due to a mistake or mutation in one of the 30,000 genes in the genome These genetic mutations are rare but each is sufficient for causing disease on its own. These genes are usually discovered in family studies called linkage studies. In a linkage study, the location of a disease-causing gene is found by finding the best match between the pattern inheritance of disease and location markers in the genome. I am utilising families with heritable forms of dementia to identify novel disease genes.

3) Gene polymorphism and late-onset disease. A genetically complex, or polygenic/multifactorial disease, is caused by a combination of genetic and environmental factors, individually and in interaction with each other. These genetic factors are genetic variations present in the normal population, and each factor tends to increase disease risk by a small amount only. I am examining large cohorts of patients with neurodegenerative diseases to determine how the environment and genes interact to increase disease risk.

4) Epigenome. Heritable changes in gene expression that do not involve coding sequence modifications are referred to as ‘epigenetic’. Whilst research in the epigenetics field has traditionally focused on the field of cancer development, several lines of evidence now suggest that epigenetic changes are important for both neurogenesis and neurodegeneration. Environmental agents have the potential for damaging the developing and mature nervous system, resulting in neurodegenerative diseases. It has been hypothesized that environmental factors can perturb gene regulation by epigenetic modification, leading to altered risk of neurodegenerative diseases. I am examining how a major disease gene, Tau, is regulated by DNA methylation in brain tissue and large cohorts of neurologically healthy and patients with neurodegenerative diseases.

Current projects

1. The identification of the CYLD gene as the causative loci for a form of familial frontotemporal dementia and motor neurone disease.Mutations in the CYLD gene have been previously associated with a rare form of benign skin tumours. Our functional studies suggest that a specific mutation in the CYLD gene specifically represses protein degradation pathways that predisposes an individual to dementia and motor neuron disease. We also observed that the skin-tumour associated mutations have the opposite effect on the protein degradation pathway, and suggests to us that these patients would have a cognitive phenotype as well. We have set up a collaboration with English researchers (Dr Neil Rajan and Prof Ian McKieth, Newcastle University, UK) who will examine their skin tumour patients to confirm whether they have the cognitive changes, as predicted by our studies.

2. Whole exome and whole genome sequencing of frontotemporal dementia and motor neuron disease patients. We have utilise next generation sequencing technology to identify compelling genetic variants that may be causal of disease in a cohort of patients with neurodegenertaive diseases. We are developing bioinformatics pipelines and cellular models to priorities candidate disease genes for down stream studies.

Associations

International Society to Advance Alzheimer's Research and Treatment (ISTAART), Australasian Neuroscience Society (ANS).

Awards and honours

2003-2007 National Health and Medical Research Council RD Wright Fellowship Career Development Award

2002 Travel fellowship to the 8th International Conference on Alzheimer's Disease and Related Disorders (Stockholm, Sweden)

1995-1998 Australian Postdoctoral Fellowship in Dementia and Dementia Care

1990-1994 University of Cambridge Scholarship, Cambridge Commonwealth Trust

1987 Marine Science Prize (University of Sydney)

1987 Eleanor Chase Prize in Zoology (University of Sydney)

Selected grants

2018

  • Peripheral Monitoring of Neurodegeneration in Frontotemporal Dementia and Motor Neurone Disease using Cell-Free DNA methylation; Chatterton Z, Kwok J; DVC Research/Postdoctoral Research Fellowship Scheme.
  • The role of mutant CYLD in frontotemporal dementia and motor neuron disease; Dobson-Stone C, Kwok J, Blair I, Atkin J, Ooi L, Ittner A, Lee A, Mather K; National Health and Medical Research Council (NHMRC)/Project Grants.
  • BRAIN-MEND: Biological Resource Analysis to Identify new mechanisms and phenotypes in Neurodegenerative Diseases; Wray N, Kwok J; National Health and Medical Research Council (NHMRC)/Boosting Dementia Research Grants.

2017

  • A blood based method for diagnosis and monitoring of Frontotemporal Dementia; Chatterton Z, Kwok J, Piguet O; Brain Foundation of Australia/Research Gift Program.

2015

  • Non-Alzheimer's disease degenerative dementias: Identifying prodromal genetic/familial phenotypes, modifying factors, and protein variations involved in progression; Halliday G, Hodges J, Lewis S, Piguet O, Kril J, Kwok J, Villemagne V, Kiernan M, Rowe D, McKeith I; National Health and Medical Research Council (NHMRC)/Dementia Research Team Grants.
  • Long-term Nerve Damage in Cancer Survivors: Identification of Risk Factors and Optimal Assessment Strategies; Park S, Krishnan A, Goldstein D, Friedlander M, Lin C, Kwok J, Kwok J, Boyle F, Horvath L, Haas M, Barnes E; National Health and Medical Research Council (NHMRC)/Project Grants.

2014

  • Identification of dementia and motor neuron disease genes; Dobson-Stone C, Kwok J; National Health and Medical Research Council (NHMRC)/Project Grants.

Selected publications

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Book Chapters

  • Brooks, W., Loy, C., Kwok, J., Schofield, P. (2008). Genetics of Dementia. In Cappa SF, Abutalebi J, Demonet J-F, Fletcher PC , Garrard P (Eds.), Cognitive Neurology- a Clinical Textbook, (pp. 321-348). United States: Oxford University Press. [More Information]

Journals

  • Couttas, T., Kain, N., Tran, C., Chatterton, Z., Kwok, J., Don, A. (2018). Age-Dependent Changes to Sphingolipid Balance in the Human Hippocampus are Gender-Specific and May Sensitize to Neurodegeneration. Journal of Alzheimer's Disease, 63(2), 503-514. [More Information]
  • Kim, W., Fu, Y., Dobson-Stone, C., Hsiao, J., Shang, K., Hallupp, M., Schofield, P., Garner, B., Karl, T., Kwok, J. (2018). Effect of Fluvoxamine on Amyloid-beta Peptide Generation and Memory. Journal of Alzheimer's Disease, 62(4), 1777-1787. [More Information]
  • Goozee, K., Chatterjee, P., James, I., Shen, K., Sohrabi, H., Asih, P., Dave, P., Man Yan, C., Taddei, K., Ayton, S., et al (2018). Elevated plasma ferritin in elderly individuals with high neocortical amyloid B load. Molecular Psychiatry, 23, 1807-1812. [More Information]
  • Vojinovic, D., Adams, H., Jian, X., Yang, Q., Smith, A., Bis, J., Teumer, A., Scholz, M., Armstrong, N., Kwok, J., et al (2018). Genome-wide association study of 23,500 individuals identifies 7 loci associated with brain ventricular volume. Nature Communications, 9(1), 3945. [More Information]
  • Foxe, D., Elan, E., Burrell, J., Leslie, F., Devenney, E., Kwok, J., Halliday, G., Hodges, J., Piguet, O. (2018). Intrafamilial phenotypic variability in the C9orf72 gene expansion: 2 case studies. Frontiers in Psychology, 9(SEP), 1-7. [More Information]
  • Feather, C., Lees, J., Makker, P., Goldstein, D., Kwok, J., Moalem-Taylor, G., Polly, P. (2018). Oxaliplatin Induces Muscle Loss and Muscle-Specific Molecular Changes in Mice. Muscle and Nerve, 57(4), 650-658. [More Information]
  • Pottier, C., Zhou, X., Perkerson III, R., Baker, M., Jenkins, G., Serie, D., Ghidoni, R., Benussi, L., Binetti, G., Hodges, J., Piguet, O., Brooks, W., Halliday, G., Kwok, J., et al (2018). Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study. The Lancet Neurology, 17(6), 548-558. [More Information]
  • Atashrazm, F., Hammond, D., Perera, G., Dobson-Stone, C., Mueller, N., Pickford, R., Kim, W., Kwok, J., Lewis, S., Halliday, G., Dzamko, N. (2018). Reduced glucocerebrosidase activity in monocytes from patients with Parkinson's disease. Scientific Reports, 8(1), 1-12. [More Information]
  • Forrest, S., Kril, J., Stevens, C., Kwok, J., Hallupp, M., Kim, W., Huang, Y., McGinley, C., Werka, H., Kiernan, M., Hodges, J., Halliday, G., et al (2018). Retiring the term FTDP-17 as MAPT mutations are genetic forms of sporadic frontotemporal tauopathies. Brain, 141(2), 521-534. [More Information]
  • Davies, G., Lam, M., Harris, S., Trampush, J., Luciano, M., Hill, W., Hagenaars, S., Ritchie, S., Marioni, R., Fawns-Ritchie, C., Kwok, J., et al (2018). Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function. Nature Communications, 9(1), 1-16. [More Information]
  • Armstrong, N., Mather, K., Thalamuthu, A., Wright, M., Trollor, J., Ames, D., Brodaty, H., Schofield, P., Sachdev, P., Kwok, J. (2017). Aging, exceptional longevity and comparisons of the Hannum and Horvath epigenetic clocks. Epigenomics, 9(5), 689-700. [More Information]
  • Tan, R., Kril, J., Yang, Y., Tom, N., Hodges, J., Villemagne, V., Rowe, C., Leyton, C., Kwok, J., Ittner, L., Halliday, G. (2017). Assessment of amyloid (beta) in pathologically confirmed frontotemporal dementia syndromes. Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring, 9, 10-20. [More Information]
  • Park, S., Kwok, J., Asher, R., Lee, C., Beale, P., Selle, F., Friedlander, M. (2017). Clinical and genetic predictors of paclitaxel neurotoxicity based on patient- versus clinicianreported incidence and severity of neurotoxicity in the ICON7 trial. Annals of Oncology, 28(11), 2733-2740. [More Information]
  • Tan, R., Yang, Y., Kim, W., Dobson-Stone, C., Kwok, J., Kiernan, M., Halliday, G. (2017). Distinct TDP-43 inclusion morphologies in frontotemporal lobar degeneration with and without amyotrophic lateral sclerosis. Acta Neuropathologica Communications, 5(76), 1-7. [More Information]
  • Dobson-Stone, C., Kwok, J. (2017). Finding MAPT Mutations in Frontotemporal Dementia and Other Tauopathies. Methods in Molecular Biology, 1523, 307-324. [More Information]
  • Muenchhoff, J., Song, F., Poljak, A., Crawford, J., Mather, K., Kochan, N., Yang, Z., Trollor, J., Reppermund, S., Kwok, J., et al (2017). Plasma apolipoproteins and physical and cognitive health in very old individuals. Neurobiology of Aging, 55, 49-60. [More Information]
  • Van Langenhove, T., Piquet, O., Burrell, J., Leyton, C., Foxe, D., Abela, M., Bartley, L., Kim, W., Jary, E., Huang, Y., Hodges, J., et al (2017). Predicting development of amyotrophic lateral sclerosis in frontotemporal dementia. Journal of Alzheimer's Disease, 58(1), 163-170. [More Information]
  • Leyton, C., Cassidy, B., Villemagne, V., Jones, G., Kwok, J., Rowe, C., Ballard, K., Piquet, O., Hodges, J. (2016). Divergent Network Patterns of Amyloid-b Deposition in Logopenic and Amnestic Alzheimer's Disease Presentations. Biological Psychiatry: Cognitive Neuroscience and Neuroimaging, 1(1), 24-31. [More Information]
  • Mather, K., Thalamuthu, A., Oldmeadow, C., Song, F., Armstrong, N., Poljak, A., Holliday, E., McEvoy, M., Kwok, J., Assareh, A., et al (2016). Genome-wide significant results identified for plasma apolipoprotein H levels in middle-aged and older adults. Scientific Reports, 6, 1-9. [More Information]
  • Coupland, K., Kim, W., Halliday, G., Hallupp, M., Dobson-Stone, C., Kwok, J. (2016). Role of the long non-coding RNA MAPT-AS1 in regulation of microtubule associated protein tau (MAPT) expression in Parkinson's disease. PloS One, 11(6), 1-14. [More Information]
  • Halliday, G., Kiernan, M., Kril, J., Mito, R., Masuda-Suzukake, M., Hasegawa, M., McCann, H., Bartley, L., Dobson-Stone, C., Kwok, J., et al (2016). TDP-43 in the hypoglossal nucleus identifies amyotrophic lateral sclerosis in behavioral variant frontotemporal dementia. Journal of the Neurological Sciences, 366, 197-201. [More Information]
  • Devenney, E., Foxe, D., Dobson-Stone, C., Kwok, J., Kiernan, M., Hodges, J. (2015). Clinical heterogeneity of the C9orf72 genetic mutation in frontotemporal dementia. Neurocase, 21(4), 535-541. [More Information]
  • Coupland, K., Kim, W., Halliday, G., Hallupp, M., Dobson-Stone, C., Kwok, J. (2015). Effect of PSEN1 mutations on MAPT methylation in early-onset Alzheimer's disease. Current Alzheimer Research, 12(8), 745-751. [More Information]
  • Lazarus, J., Mather, K., Thalamuthu, A., Kwok, J. (2015). Genetic factors and epigenetic mechanisms of longevity: Current perspectives. Epigenomics, 7(8), 1339-1349. [More Information]
  • Chan, J., Thalamuthu, A., Oldmeadow, C., Armstrong, N., Holliday, E., McEvoy, M., Kwok, J., Assareh, A., Peel, R., Hancock, S., et al (2015). Genetics of hand grip strength in mid to late life. Age, 37(3), 1-10. [More Information]
  • Mather, K., Armstrong, N., Wen, W., Kwok, J., Assareh, A., Thalamuthu, A., Reppermund, S., Duesing, K., Wright, M., Ames, D., et al (2015). Investigating the Genetics of Hippocampal Volume in Older Adults without Dementia. PloS One, 10(1), 1-12. [More Information]
  • Boraxbekk, C., Ames, D., Kochan, N., Lee, T., Thalamuthu, A., Wen, W., Armstrong, N., Kwok, J., Schofield, P., Reppermund, S., et al (2015). Investigating the influence of KIBRA and CLSTN2 genetic polymorphisms on cross-sectional and longitudinal measures of memory performance and hippocampal volume in older individuals. Neuropsychologia, 78, 10-17. [More Information]
  • Brautigam, H., Moreno, C., Steele, J., Bogush, A., Dickstein, D., Kwok, J., Schofield, P., Thinakaran, G., Mathews, P., Hof, P., et al (2015). Physiologically generated presenilin 1 lacking exon 8 fails to rescue brain PS1-/- phenotype and forms complexes with wildtype PS1 and nicastrin. Scientific Reports, 5, 1-15. [More Information]
  • Devenney, E., Bartley, L., Hoon, C., O'Callaghan, C., Kumfor, F., Hornberger, M., Kwok, J., Halliday, G., Kiernan, M., Piguet, O., et al (2015). Progression in Behavioral Variant Frontotemporal Dementia: A Longitudinal Study. JAMA Neurology, 72(12), 1501-1509. [More Information]
  • Huang, Y., Wang, G., Rowe, D., Wang, Y., Kwok, J., Xiao, Q., Mastaglia, F., Liu, J., Chen, S., Halliday, G. (2015). SNCA gene, but not MAPT, influences onset age of Parkinson's Disease in Chinese and Australians. BioMed Research International, 2015, 1-6. [More Information]
  • Fu, Y., Rusznak, Z., Kwok, J., Kim, W., Paxinos, G. (2014). Age-Dependent Alterations of the Hippocampal Cell Composition and Proliferative Potential in the hA-Beta-PPSwInd-J20 Mouse. Journal of Alzheimer's Disease, 41(4), 1177-1192. [More Information]
  • Assareh, A., Piguet, O., Lye, T., Mather, K., Broe, G., Schofield, P., Sachdev, P., Kwok, J. (2014). Association of SORL1 gene variants with hippocampal and cerebral atrophy and Alzheimer's disease. Current Alzheimer Research, 11(6), 558-563. [More Information]
  • Tan, R., Devenney, E., Dobson-Stone, C., Kwok, J., Hodges, J., Kiernan, M., Halliday, G., Hornberger, M. (2014). Cerebellar Integrity in the Amyotrophic Lateral Sclerosis - Frontotemporal Dementia Continuum. PloS One, 9(8), 1-10. [More Information]
  • Oldmeadow, C., Holliday, E., McEvoy, M., Scott, R., Kwok, J., Mather, K., Sachdev, P., Schofield, P., Attia, J. (2014). Concordance between direct and imputed APOE genotypes using 1000 genomes data. Journal of Alzheimer's Disease, 42(2), 391-393. [More Information]
  • Coupland, K., Mellick, G., Silburn, P., Mather, K., Armstrong, N., Sachdev, P., Brodaty, H., Huang, Y., Halliday, G., Hallupp, M., et al (2014). DNA methylation of the MAPT gene in Parkinson's disease cohorts and modulation by vitamin E in vitro. Movement Disorders, 29(13), 1606-1614. [More Information]
  • Ferrari, R., Hernandez, D., Nalls, M., Rohrer, J., Ramasamy, A., Kwok, J., Dobson-Stone, C., Brooks, W., Schofield, P., Halliday, G., et al (2014). Frontotemporal dementia and its subtypes: A genome-wide association study. The Lancet Neurology, 13(7), 686-699. [More Information]
  • Loy, C., Schofield, P., Turner, A., Kwok, J. (2014). Genetics of dementia. The Lancet, 383(9919), 828-840. [More Information]
  • Kanchibhotla, S., Mather, K., Thalamuthu, A., Zhang, L., Schofield, P., Kwok, J., Ames, D., Wright, M., Trollor, J., Wen, W., et al (2014). Genetics of Microstructure of the Corpus Callosum in Older Adults. PloS One, 9(12), 1-17. [More Information]
  • Po, K., Leslie, F., Gracia, N., Bartley, L., Kwok, J., Halliday, G., Hodges, J., Burrell, J. (2014). Heritability in frontotemporal dementia: more missing pieces? Journal of Neurology, 261(11), 2170-2177. [More Information]
  • Park, S., Kwok, J., Loy, C., Friedlander, M., Lin, C., Krishnan, A., Lewis, C., Kiernan, M. (2014). Paclitaxel-induced neuropathy: potential association of MAPT and GSK3B genotypes. BMC Cancer, 14, 1-5. [More Information]
  • Assareh, A., Mather, K., Crawford, J., Wen, W., Anstey, K., Easteal, S., Tan, X., Mack, H., Kwok, J., et al (2014). Renin-angiotensin system genetic polymorphisms and brain white matter lesions in older australians. American Journal of Hypertension, 27(9), 1191-1198. [More Information]
  • Klein, C., Bird, T., Ertekin-Taner, N., Lincolin, S., Hjroth, R., Wu, Y., Kwok, J., Mer, G., Dyck, P., Nicholson, G. (2013). DNMT1 mutation hot spot causes varied phenotypes of HSAN1 with dementia and hearing loss. Neurology, 80(9), 824-828. [More Information]
  • Kanchibhotla, S., Mather, K., Wen, W., Schofield, P., Kwok, J., Sachdev, P. (2013). Genetics of ageing-related changes in brain white matter integrity - A review. Ageing Research Reviews, 12(1), 391-401. [More Information]
  • Dobson-Stone, C., Polly, P., Korgaonkar, M., Williams, L., Gordon, E., Schofield, P., Mather, K., Armstrong, N., Wen, W., Sachdev, P., et al (2013). GSK3B and MAPT polymorphisms are associated with grey matter and intracranial volume in healthy individuals. PloS One, 8(8), 1-7. [More Information]
  • Irish, M., Devenney, E., Wong, S., Dobson-Stone, C., Kwok, J., Piguet, O., Hodges, J., Hornberger, M. (2013). Neural substrates of episodic memory dysfunction in behavioural variant frontotemporal dementia with and without C9ORF72 expansions. NeuroImage: Clinical, 2(1), 836-843. [More Information]
  • Porter, M., Dobson-Stone, C., Kwok, J., Schofield, P., Beckett, W., Tassabehji, M. (2012). A Role for Transcription Factor GTF2IRD2 in Executive Function in Williams-Beuren Syndrome. PloS One, 7(10), 1-11. [More Information]
  • Dobson-Stone, C., Hallupp, M., Bartley, L., Shepherd, C., Halliday, G., Schofield, P., Hodges, J., Kwok, J. (2012). C9ORF72 repeat expansion in clinical and neuropathologic frontotemporal dementia cohorts. Neurology, 79(10), 995-1001. [More Information]
  • Elliott, D., Kim, W., Gorrisen, S., Halliday, G., Kwok, J. (2012). Leucine-Rich Repeat Kinase 2 and Alternative Splicing in Parkinson's Disease. Movement Disorders, 27(8), 1004-1011. [More Information]
  • Wong, J., Garner, B., Halliday, G., Kwok, J. (2012). Srp20 regulates TrkB pre-mRNA splicing to generate TrkB-Shc transcripts with implications for Alzheimer's disease. Journal of Neurochemistry, 123(1), 159-171. [More Information]
  • Assareh, A., Mather, K., Schofield, P., Kwok, J., Sachdev, P. (2011). The Genetics of White Matter Lesions. CNS Neuroscience and Therapeutics, 17(5), 525-540. [More Information]
  • Schofield, E., Halliday, G., Kwok, J., Loy, C., Double, K., Hodges, J. (2010). Low Serum Progranulin Predicts the Presence of Mutations: A Prospective Study. Journal of Alzheimer's Disease, 22(3), 981-984. [More Information]
  • Luty, A., Kwok, J., Dobson-Stone, C., Loy, C., Coupland, K., Karlstrom, H., Sobow, T., Tchorzewska, J., Maruszak, A., Barcikowsk, M., Blair, I., et al (2010). Sigma Nonopioid Intracellular Receptor 1 Mutations Cause Frontotemporal Lobar Degeneration-Motor Neuron Disease. Annals of Neurology, 68(5), 639-649. [More Information]
  • Luty, A., Kwok, J., Thompson, E., Blumbergs, P., Brooks, W., Loy, C., Dobson-Stone, C., Panegyres, P., Hecker, J., Nicholson, G., et al (2008). Pedigree with frontotemporal lobar degeneration--motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9. BMC Neurology, 8(32), 1-11. [More Information]
  • Pickering-Brown, S., Baker, M., Gass, J., Boeve, B., Loy, C., Brooks, W., Mackenzie, I., Martins, R., Kwok, J., Halliday, G., Kril, J., et al (2006). Mutations in Progranulin explain atypical phenotypes associated with variants in the MAPT. Brain, 129(11), 3124-3126. [More Information]
  • Halliday, G., Song, Y., Lepar, G., Brooks, W., Kwok, J., Kersaitis, C., Gregory, G., Shepherd, C., Rahimi, F., Schofield, P., Kril, J. (2005). Pick bodies in a family with presenilin-1 Alzheimer's disease. Annals of Neurology, 57(1), 139-143. [More Information]

Conferences

  • Leyton, C., Cassidy, B., Villemagne, V., Jones, G., Kwok, J., Rowe, C., Ballard, K. (2015). Divergent network patterns of Amyloid-B deposition in language and amnestic AD presentations. Inter-University Neuroscience & Mental Health Conference, Sydney: N/A.

2018

  • Couttas, T., Kain, N., Tran, C., Chatterton, Z., Kwok, J., Don, A. (2018). Age-Dependent Changes to Sphingolipid Balance in the Human Hippocampus are Gender-Specific and May Sensitize to Neurodegeneration. Journal of Alzheimer's Disease, 63(2), 503-514. [More Information]
  • Kim, W., Fu, Y., Dobson-Stone, C., Hsiao, J., Shang, K., Hallupp, M., Schofield, P., Garner, B., Karl, T., Kwok, J. (2018). Effect of Fluvoxamine on Amyloid-beta Peptide Generation and Memory. Journal of Alzheimer's Disease, 62(4), 1777-1787. [More Information]
  • Goozee, K., Chatterjee, P., James, I., Shen, K., Sohrabi, H., Asih, P., Dave, P., Man Yan, C., Taddei, K., Ayton, S., et al (2018). Elevated plasma ferritin in elderly individuals with high neocortical amyloid B load. Molecular Psychiatry, 23, 1807-1812. [More Information]
  • Vojinovic, D., Adams, H., Jian, X., Yang, Q., Smith, A., Bis, J., Teumer, A., Scholz, M., Armstrong, N., Kwok, J., et al (2018). Genome-wide association study of 23,500 individuals identifies 7 loci associated with brain ventricular volume. Nature Communications, 9(1), 3945. [More Information]
  • Foxe, D., Elan, E., Burrell, J., Leslie, F., Devenney, E., Kwok, J., Halliday, G., Hodges, J., Piguet, O. (2018). Intrafamilial phenotypic variability in the C9orf72 gene expansion: 2 case studies. Frontiers in Psychology, 9(SEP), 1-7. [More Information]
  • Feather, C., Lees, J., Makker, P., Goldstein, D., Kwok, J., Moalem-Taylor, G., Polly, P. (2018). Oxaliplatin Induces Muscle Loss and Muscle-Specific Molecular Changes in Mice. Muscle and Nerve, 57(4), 650-658. [More Information]
  • Pottier, C., Zhou, X., Perkerson III, R., Baker, M., Jenkins, G., Serie, D., Ghidoni, R., Benussi, L., Binetti, G., Hodges, J., Piguet, O., Brooks, W., Halliday, G., Kwok, J., et al (2018). Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study. The Lancet Neurology, 17(6), 548-558. [More Information]
  • Atashrazm, F., Hammond, D., Perera, G., Dobson-Stone, C., Mueller, N., Pickford, R., Kim, W., Kwok, J., Lewis, S., Halliday, G., Dzamko, N. (2018). Reduced glucocerebrosidase activity in monocytes from patients with Parkinson's disease. Scientific Reports, 8(1), 1-12. [More Information]
  • Forrest, S., Kril, J., Stevens, C., Kwok, J., Hallupp, M., Kim, W., Huang, Y., McGinley, C., Werka, H., Kiernan, M., Hodges, J., Halliday, G., et al (2018). Retiring the term FTDP-17 as MAPT mutations are genetic forms of sporadic frontotemporal tauopathies. Brain, 141(2), 521-534. [More Information]
  • Davies, G., Lam, M., Harris, S., Trampush, J., Luciano, M., Hill, W., Hagenaars, S., Ritchie, S., Marioni, R., Fawns-Ritchie, C., Kwok, J., et al (2018). Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function. Nature Communications, 9(1), 1-16. [More Information]

2017

  • Armstrong, N., Mather, K., Thalamuthu, A., Wright, M., Trollor, J., Ames, D., Brodaty, H., Schofield, P., Sachdev, P., Kwok, J. (2017). Aging, exceptional longevity and comparisons of the Hannum and Horvath epigenetic clocks. Epigenomics, 9(5), 689-700. [More Information]
  • Tan, R., Kril, J., Yang, Y., Tom, N., Hodges, J., Villemagne, V., Rowe, C., Leyton, C., Kwok, J., Ittner, L., Halliday, G. (2017). Assessment of amyloid (beta) in pathologically confirmed frontotemporal dementia syndromes. Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring, 9, 10-20. [More Information]
  • Park, S., Kwok, J., Asher, R., Lee, C., Beale, P., Selle, F., Friedlander, M. (2017). Clinical and genetic predictors of paclitaxel neurotoxicity based on patient- versus clinicianreported incidence and severity of neurotoxicity in the ICON7 trial. Annals of Oncology, 28(11), 2733-2740. [More Information]
  • Tan, R., Yang, Y., Kim, W., Dobson-Stone, C., Kwok, J., Kiernan, M., Halliday, G. (2017). Distinct TDP-43 inclusion morphologies in frontotemporal lobar degeneration with and without amyotrophic lateral sclerosis. Acta Neuropathologica Communications, 5(76), 1-7. [More Information]
  • Dobson-Stone, C., Kwok, J. (2017). Finding MAPT Mutations in Frontotemporal Dementia and Other Tauopathies. Methods in Molecular Biology, 1523, 307-324. [More Information]
  • Muenchhoff, J., Song, F., Poljak, A., Crawford, J., Mather, K., Kochan, N., Yang, Z., Trollor, J., Reppermund, S., Kwok, J., et al (2017). Plasma apolipoproteins and physical and cognitive health in very old individuals. Neurobiology of Aging, 55, 49-60. [More Information]
  • Van Langenhove, T., Piquet, O., Burrell, J., Leyton, C., Foxe, D., Abela, M., Bartley, L., Kim, W., Jary, E., Huang, Y., Hodges, J., et al (2017). Predicting development of amyotrophic lateral sclerosis in frontotemporal dementia. Journal of Alzheimer's Disease, 58(1), 163-170. [More Information]

2016

  • Leyton, C., Cassidy, B., Villemagne, V., Jones, G., Kwok, J., Rowe, C., Ballard, K., Piquet, O., Hodges, J. (2016). Divergent Network Patterns of Amyloid-b Deposition in Logopenic and Amnestic Alzheimer's Disease Presentations. Biological Psychiatry: Cognitive Neuroscience and Neuroimaging, 1(1), 24-31. [More Information]
  • Mather, K., Thalamuthu, A., Oldmeadow, C., Song, F., Armstrong, N., Poljak, A., Holliday, E., McEvoy, M., Kwok, J., Assareh, A., et al (2016). Genome-wide significant results identified for plasma apolipoprotein H levels in middle-aged and older adults. Scientific Reports, 6, 1-9. [More Information]
  • Coupland, K., Kim, W., Halliday, G., Hallupp, M., Dobson-Stone, C., Kwok, J. (2016). Role of the long non-coding RNA MAPT-AS1 in regulation of microtubule associated protein tau (MAPT) expression in Parkinson's disease. PloS One, 11(6), 1-14. [More Information]
  • Halliday, G., Kiernan, M., Kril, J., Mito, R., Masuda-Suzukake, M., Hasegawa, M., McCann, H., Bartley, L., Dobson-Stone, C., Kwok, J., et al (2016). TDP-43 in the hypoglossal nucleus identifies amyotrophic lateral sclerosis in behavioral variant frontotemporal dementia. Journal of the Neurological Sciences, 366, 197-201. [More Information]

2015

  • Devenney, E., Foxe, D., Dobson-Stone, C., Kwok, J., Kiernan, M., Hodges, J. (2015). Clinical heterogeneity of the C9orf72 genetic mutation in frontotemporal dementia. Neurocase, 21(4), 535-541. [More Information]
  • Leyton, C., Cassidy, B., Villemagne, V., Jones, G., Kwok, J., Rowe, C., Ballard, K. (2015). Divergent network patterns of Amyloid-B deposition in language and amnestic AD presentations. Inter-University Neuroscience & Mental Health Conference, Sydney: N/A.
  • Coupland, K., Kim, W., Halliday, G., Hallupp, M., Dobson-Stone, C., Kwok, J. (2015). Effect of PSEN1 mutations on MAPT methylation in early-onset Alzheimer's disease. Current Alzheimer Research, 12(8), 745-751. [More Information]
  • Lazarus, J., Mather, K., Thalamuthu, A., Kwok, J. (2015). Genetic factors and epigenetic mechanisms of longevity: Current perspectives. Epigenomics, 7(8), 1339-1349. [More Information]
  • Chan, J., Thalamuthu, A., Oldmeadow, C., Armstrong, N., Holliday, E., McEvoy, M., Kwok, J., Assareh, A., Peel, R., Hancock, S., et al (2015). Genetics of hand grip strength in mid to late life. Age, 37(3), 1-10. [More Information]
  • Mather, K., Armstrong, N., Wen, W., Kwok, J., Assareh, A., Thalamuthu, A., Reppermund, S., Duesing, K., Wright, M., Ames, D., et al (2015). Investigating the Genetics of Hippocampal Volume in Older Adults without Dementia. PloS One, 10(1), 1-12. [More Information]
  • Boraxbekk, C., Ames, D., Kochan, N., Lee, T., Thalamuthu, A., Wen, W., Armstrong, N., Kwok, J., Schofield, P., Reppermund, S., et al (2015). Investigating the influence of KIBRA and CLSTN2 genetic polymorphisms on cross-sectional and longitudinal measures of memory performance and hippocampal volume in older individuals. Neuropsychologia, 78, 10-17. [More Information]
  • Brautigam, H., Moreno, C., Steele, J., Bogush, A., Dickstein, D., Kwok, J., Schofield, P., Thinakaran, G., Mathews, P., Hof, P., et al (2015). Physiologically generated presenilin 1 lacking exon 8 fails to rescue brain PS1-/- phenotype and forms complexes with wildtype PS1 and nicastrin. Scientific Reports, 5, 1-15. [More Information]
  • Devenney, E., Bartley, L., Hoon, C., O'Callaghan, C., Kumfor, F., Hornberger, M., Kwok, J., Halliday, G., Kiernan, M., Piguet, O., et al (2015). Progression in Behavioral Variant Frontotemporal Dementia: A Longitudinal Study. JAMA Neurology, 72(12), 1501-1509. [More Information]
  • Huang, Y., Wang, G., Rowe, D., Wang, Y., Kwok, J., Xiao, Q., Mastaglia, F., Liu, J., Chen, S., Halliday, G. (2015). SNCA gene, but not MAPT, influences onset age of Parkinson's Disease in Chinese and Australians. BioMed Research International, 2015, 1-6. [More Information]

2014

  • Fu, Y., Rusznak, Z., Kwok, J., Kim, W., Paxinos, G. (2014). Age-Dependent Alterations of the Hippocampal Cell Composition and Proliferative Potential in the hA-Beta-PPSwInd-J20 Mouse. Journal of Alzheimer's Disease, 41(4), 1177-1192. [More Information]
  • Assareh, A., Piguet, O., Lye, T., Mather, K., Broe, G., Schofield, P., Sachdev, P., Kwok, J. (2014). Association of SORL1 gene variants with hippocampal and cerebral atrophy and Alzheimer's disease. Current Alzheimer Research, 11(6), 558-563. [More Information]
  • Tan, R., Devenney, E., Dobson-Stone, C., Kwok, J., Hodges, J., Kiernan, M., Halliday, G., Hornberger, M. (2014). Cerebellar Integrity in the Amyotrophic Lateral Sclerosis - Frontotemporal Dementia Continuum. PloS One, 9(8), 1-10. [More Information]
  • Oldmeadow, C., Holliday, E., McEvoy, M., Scott, R., Kwok, J., Mather, K., Sachdev, P., Schofield, P., Attia, J. (2014). Concordance between direct and imputed APOE genotypes using 1000 genomes data. Journal of Alzheimer's Disease, 42(2), 391-393. [More Information]
  • Coupland, K., Mellick, G., Silburn, P., Mather, K., Armstrong, N., Sachdev, P., Brodaty, H., Huang, Y., Halliday, G., Hallupp, M., et al (2014). DNA methylation of the MAPT gene in Parkinson's disease cohorts and modulation by vitamin E in vitro. Movement Disorders, 29(13), 1606-1614. [More Information]
  • Ferrari, R., Hernandez, D., Nalls, M., Rohrer, J., Ramasamy, A., Kwok, J., Dobson-Stone, C., Brooks, W., Schofield, P., Halliday, G., et al (2014). Frontotemporal dementia and its subtypes: A genome-wide association study. The Lancet Neurology, 13(7), 686-699. [More Information]
  • Loy, C., Schofield, P., Turner, A., Kwok, J. (2014). Genetics of dementia. The Lancet, 383(9919), 828-840. [More Information]
  • Kanchibhotla, S., Mather, K., Thalamuthu, A., Zhang, L., Schofield, P., Kwok, J., Ames, D., Wright, M., Trollor, J., Wen, W., et al (2014). Genetics of Microstructure of the Corpus Callosum in Older Adults. PloS One, 9(12), 1-17. [More Information]
  • Po, K., Leslie, F., Gracia, N., Bartley, L., Kwok, J., Halliday, G., Hodges, J., Burrell, J. (2014). Heritability in frontotemporal dementia: more missing pieces? Journal of Neurology, 261(11), 2170-2177. [More Information]
  • Park, S., Kwok, J., Loy, C., Friedlander, M., Lin, C., Krishnan, A., Lewis, C., Kiernan, M. (2014). Paclitaxel-induced neuropathy: potential association of MAPT and GSK3B genotypes. BMC Cancer, 14, 1-5. [More Information]
  • Assareh, A., Mather, K., Crawford, J., Wen, W., Anstey, K., Easteal, S., Tan, X., Mack, H., Kwok, J., et al (2014). Renin-angiotensin system genetic polymorphisms and brain white matter lesions in older australians. American Journal of Hypertension, 27(9), 1191-1198. [More Information]

2013

  • Klein, C., Bird, T., Ertekin-Taner, N., Lincolin, S., Hjroth, R., Wu, Y., Kwok, J., Mer, G., Dyck, P., Nicholson, G. (2013). DNMT1 mutation hot spot causes varied phenotypes of HSAN1 with dementia and hearing loss. Neurology, 80(9), 824-828. [More Information]
  • Kanchibhotla, S., Mather, K., Wen, W., Schofield, P., Kwok, J., Sachdev, P. (2013). Genetics of ageing-related changes in brain white matter integrity - A review. Ageing Research Reviews, 12(1), 391-401. [More Information]
  • Dobson-Stone, C., Polly, P., Korgaonkar, M., Williams, L., Gordon, E., Schofield, P., Mather, K., Armstrong, N., Wen, W., Sachdev, P., et al (2013). GSK3B and MAPT polymorphisms are associated with grey matter and intracranial volume in healthy individuals. PloS One, 8(8), 1-7. [More Information]
  • Irish, M., Devenney, E., Wong, S., Dobson-Stone, C., Kwok, J., Piguet, O., Hodges, J., Hornberger, M. (2013). Neural substrates of episodic memory dysfunction in behavioural variant frontotemporal dementia with and without C9ORF72 expansions. NeuroImage: Clinical, 2(1), 836-843. [More Information]

2012

  • Porter, M., Dobson-Stone, C., Kwok, J., Schofield, P., Beckett, W., Tassabehji, M. (2012). A Role for Transcription Factor GTF2IRD2 in Executive Function in Williams-Beuren Syndrome. PloS One, 7(10), 1-11. [More Information]
  • Dobson-Stone, C., Hallupp, M., Bartley, L., Shepherd, C., Halliday, G., Schofield, P., Hodges, J., Kwok, J. (2012). C9ORF72 repeat expansion in clinical and neuropathologic frontotemporal dementia cohorts. Neurology, 79(10), 995-1001. [More Information]
  • Elliott, D., Kim, W., Gorrisen, S., Halliday, G., Kwok, J. (2012). Leucine-Rich Repeat Kinase 2 and Alternative Splicing in Parkinson's Disease. Movement Disorders, 27(8), 1004-1011. [More Information]
  • Wong, J., Garner, B., Halliday, G., Kwok, J. (2012). Srp20 regulates TrkB pre-mRNA splicing to generate TrkB-Shc transcripts with implications for Alzheimer's disease. Journal of Neurochemistry, 123(1), 159-171. [More Information]

2011

  • Assareh, A., Mather, K., Schofield, P., Kwok, J., Sachdev, P. (2011). The Genetics of White Matter Lesions. CNS Neuroscience and Therapeutics, 17(5), 525-540. [More Information]

2010

  • Schofield, E., Halliday, G., Kwok, J., Loy, C., Double, K., Hodges, J. (2010). Low Serum Progranulin Predicts the Presence of Mutations: A Prospective Study. Journal of Alzheimer's Disease, 22(3), 981-984. [More Information]
  • Luty, A., Kwok, J., Dobson-Stone, C., Loy, C., Coupland, K., Karlstrom, H., Sobow, T., Tchorzewska, J., Maruszak, A., Barcikowsk, M., Blair, I., et al (2010). Sigma Nonopioid Intracellular Receptor 1 Mutations Cause Frontotemporal Lobar Degeneration-Motor Neuron Disease. Annals of Neurology, 68(5), 639-649. [More Information]

2008

  • Brooks, W., Loy, C., Kwok, J., Schofield, P. (2008). Genetics of Dementia. In Cappa SF, Abutalebi J, Demonet J-F, Fletcher PC , Garrard P (Eds.), Cognitive Neurology- a Clinical Textbook, (pp. 321-348). United States: Oxford University Press. [More Information]
  • Luty, A., Kwok, J., Thompson, E., Blumbergs, P., Brooks, W., Loy, C., Dobson-Stone, C., Panegyres, P., Hecker, J., Nicholson, G., et al (2008). Pedigree with frontotemporal lobar degeneration--motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9. BMC Neurology, 8(32), 1-11. [More Information]

2006

  • Pickering-Brown, S., Baker, M., Gass, J., Boeve, B., Loy, C., Brooks, W., Mackenzie, I., Martins, R., Kwok, J., Halliday, G., Kril, J., et al (2006). Mutations in Progranulin explain atypical phenotypes associated with variants in the MAPT. Brain, 129(11), 3124-3126. [More Information]

2005

  • Halliday, G., Song, Y., Lepar, G., Brooks, W., Kwok, J., Kersaitis, C., Gregory, G., Shepherd, C., Rahimi, F., Schofield, P., Kril, J. (2005). Pick bodies in a family with presenilin-1 Alzheimer's disease. Annals of Neurology, 57(1), 139-143. [More Information]

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