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Boraxbekk CJ; Ames D; Kochan NA; Lee T; Thalamuthu A; Wen W; Armstrong NJ; Kwok JBJ; Schofield PR; Reppermund S, 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, vol. 78, pp. 10 - 17, http://dx.doi.org/10.1016/j.neuropsychologia.2015.09.031

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Huang Y; Wang G; Rowe D; Wang Y; Kwok JBJ; Xiao Q; Mastaglia F; Liu J; Chen SD; Halliday G, 2015, 'SNCA gene, but not MAPT, influences onset age of Parkinson's disease in Chinese and Australians', BioMed Research International, vol. 2015, http://dx.doi.org/10.1155/2015/135674

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Mather KA; Armstrong NJ; Wen W; Kwok JB; Assareh AA; Thalamuthu A; Reppermund S; Duesing K; Wright MJ; Ames D, 2015, 'Investigating the genetics of hippocampal volume in older adults without dementia', PLoS ONE, vol. 10, http://dx.doi.org/10.1371/journal.pone.0116920

Lazarus J; Mather KA; Armstrong NJ; Song F; Poljak A; Thalamuthu A; Lee T; Kochan NA; Brodaty H; Wright MJ, 2015, 'DNA methylation in the apolipoprotein-A1 gene is associated with episodic memory performance in healthy older individuals', Journal of Alzheimer's Disease, vol. 44, pp. 175 - 182, http://dx.doi.org/10.3233/JAD-141314

Kanchibhotla SC; Mather KA; Thalamuthu A; Zhuang L; Schofield PR; Kwok JBJ; Ames D; Wright MJ; Trollor JN; Wen W, 2014, 'Genetics of microstructure of the corpus callosum in older adults', PLoS ONE, vol. 9, http://dx.doi.org/10.1371/journal.pone.0113181

Tan RH; Devenney E; Dobson-Stone C; Kwok JB; Hodges JR; Kiernan MC; Halliday GM; Hornberger M, 2014, 'Cerebellar integrity in the amyotrophic lateral sclerosis - Frontotemporal dementia continuum', PLoS ONE, vol. 9, http://dx.doi.org/10.1371/journal.pone.0105632

Park SB; Kwok JB; Loy CT; Friedlander ML; Lin CSY; Krishnan AV; Lewis CR; Kiernan MC, 2014, 'Paclitaxel-induced neuropathy: Potential association of MAPT and GSK3B genotypes', BMC Cancer, vol. 14, http://dx.doi.org/10.1186/1471-2407-14-993

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Assareh AA; Piguet O; Lye TC; Mather KA; Broe GA; Schofield PR; Sachdev PS; Kwok JBJ, 2014, 'Association of SORL1 gene variants with hippocampal and cerebral atrophy and Alzheimer's disease', Current Alzheimer Research, vol. 11, pp. 558 - 563, http://dx.doi.org/10.2174/1567205011666140618101408

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Assareh AA; Mather KA; Crawford JD; Wen W; Anstey KJ; Easteal S; Tan X; Mack HA; Kwok JBJ; Schofield PR, 2014, 'Renin-Angiotensin System Genetic Polymorphisms and Brain White Matter Lesions in Older Australians', American Journal of Hypertension, vol. 27, pp. 1191 - 1198, http://dx.doi.org/10.1093/ajh/hpu035

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Loy CT; Schofield PR; Kwok JBJ; Turner AM, 2014, 'Genetics of dementia', The Lancet, vol. 383, pp. 828 - 840, http://dx.doi.org/10.1016/S0140-6736(13)60630-3

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Klein CJ; Bird T; Ertekin-Taner N; Lincoln S; Hjorth R; Wu Y; Kwok J; Mer G; Dyck PJ; Nicholson GA, 2013, 'DNMT1 mutation hot spot causes varied phenotypes of HSAN1 with dementia and hearing loss', Neurology, vol. 80, pp. 824 - 828, http://dx.doi.org/10.1212/WNL.0b013e318284076d

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Coupland KG; Mellick GD; Silburn PA; Mather K; Armstrong NJ; Sachdev PS; Brodaty H; Huang Y; Halliday GM; Hallupp M, 2013, 'DNA methylation of the MAPT gene in Parkinson's disease cohorts and modulation by vitamin E In Vitro', Movement Disorders, http://dx.doi.org/10.1002/mds.25784

Dang TNT; Dobson-Stone C; Glaros EN; Kim WS; Hallupp M; Bartley L; Piguet O; Hodges JR; Halliday GM; Double KL, 2013, 'Endogenous progesterone levels and frontotemporal dementia: Modulation of TDP-43 and Tau levels in vitro and treatment of the A315T TARDBP mouse model', DMM Disease Models and Mechanisms, vol. 6, pp. 1198 - 1204, http://dx.doi.org/10.1242/dmm.011460

Dobson-Stone C; Hallupp M; Loy CT; Thompson EM; Haan E; Sue CM; Panegyres PK; Razquin C; Seijo-Martínez M; Rene R, 2013, 'C9ORF72 Repeat Expansion in Australian and Spanish Frontotemporal Dementia Patients', PLoS ONE, vol. 8, http://dx.doi.org/10.1371/journal.pone.0056899

Dobson-Stone C; Luty AA; Thompson EM; Blumbergs P; Brooks WS; Short CL; Field CD; Panegyres PK; Hecker J; Solski JA, 2013, 'Frontotemporal dementia-amyotrophic lateral sclerosis syndrome locus on chromosome 16p12.1-q12.2: Genetic, clinical and neuropathological analysis', Acta Neuropathologica, vol. 125, pp. 523 - 533, http://dx.doi.org/10.1007/s00401-013-1078-9

Irish M; Devenney E; Wong S; Dobson-Stone C; Kwok JB; Piguet O; Hodges JR; Hornberger M, 2013, 'Neural substrates of episodic memory dysfunction in behavioural variant frontotemporal dementia with and without C9ORF72 expansions', NeuroImage: Clinical, vol. 2, pp. 836 - 843, http://dx.doi.org/10.1016/j.nicl.2013.06.005

Kanchibhotla SC; Mather KA; Wen W; Schofield PR; Kwok JBJ; Sachdev PS, 2013, 'Genetics of ageing-related changes in brain white matter integrity - A review', Ageing Research Reviews, vol. 12, pp. 391 - 401, http://dx.doi.org/10.1016/j.arr.2012.10.003

Dobson-Stone C; Polly P; Korgaonkar MS; Williams LM; Gordon E; Schofield PR; Mather K; Armstrong NJ; Wen W; Sachdev PS, 2013, 'GSK3B and MAPT Polymorphisms Are Associated with Grey Matter and Intracranial Volume in Healthy Individuals', PLoS ONE, vol. 8, http://dx.doi.org/10.1371/journal.pone.0071750

Elliott DA; Kim WS; Gorissen S; Halliday GM; Kwok JBJ, 2012, 'Leucine-rich repeat kinase 2 and alternative splicing in Parkinson's disease', Movement Disorders, vol. 27, pp. 1004 - 1011, http://dx.doi.org/10.1002/mds.25005

Dobson-Stone C; Hallupp M; Bartley L; Shepherd CE; Halliday GM; Schofield PR; Hodges JR; Kwok JBJ, 2012, 'C9ORF72 repeat expansion in clinical and neuropathologic frontotemporal dementia cohorts', Neurology, vol. 79, pp. 995 - 1001, http://dx.doi.org/10.1212/WNL.0b013e3182684634

Porter MA; Dobson-Stone C; Kwok JBJ; Schofield PR; Beckett W; Tassabehji M, 2012, 'A Role for Transcription Factor GTF2IRD2 in Executive Function in Williams-Beuren Syndrome', PLoS ONE, vol. 7, http://dx.doi.org/10.1371/journal.pone.0047457

Wong J; Garner B; Halliday GM; Kwok JBJ, 2012, 'Srp20 regulates TrkB pre-mRNA splicing to generate TrkB-Shc transcripts with implications for Alzheimer's disease', Journal of Neurochemistry, vol. 123, pp. 159 - 171, http://dx.doi.org/10.1111/j.1471-4159.2012.07873.x

Assareh A; Mather KA; Schofield PR; Kwok JBJ; Sachdev PS, 2011, 'The Genetics of White Matter Lesions', CNS Neuroscience and Therapeutics, vol. 17, pp. 525 - 540, http://dx.doi.org/10.1111/j.1755-5949.2010.00181.x

Huang Y; Zheng L; Halliday; Dobson-Stone C; Wang Y; Tang HD; Cao L; Deng YL; Wang G; Zhang Y, 2011, 'Genetic polymorphisms in sigma-1 receptor and apolipoprotein E interact to influence the severity of Alzheimer's disease', Current Alzheimer Research, vol. 8, pp. 765 - 770, http://dx.doi.org/10.2174/156720511797633232

Schofield EC; Halliday GM; Kwok JB; Loy C; Double KL; Hodges JR, 2010, 'Low serum progranulin predicts the presence of mutations: a prospective study.', Journal of Alzheimer's Disease, vol. 22, pp. 981 - 984, http://dx.doi.org/10.3233/JAD-2010-101032

Loy CT; Kril JJ; Trollor JN; Kiernan MC; Kwok JBJ; Vucic S; Halliday GM; Hodges JR, 2010, 'The case of a 48 year-old woman with bizarre and complex delusions', Nature Reviews Neurology, vol. 6, pp. 175 - 179, http://dx.doi.org/10.1038/nrneurol.2010.3

Schofield EC; Halliday GM; Kwok J; Loy C; Double KL; Hodges JR, 2010, 'Low serum progranulin predicts the presence of mutations: A prospective study', Journal of Alzheimer's Disease, vol. 22, pp. 981 - 984, http://dx.doi.org/10.3233/JAD-2010-101032

Loy CT; McCusker E; Kril JJ; Kwok JB; Brooks WS; McCann H; Isaacs AM; Halliday GM, 2010, 'Very early-onset frontotemporal dementia with no family history predicts underlying fused in sarcoma pathology', Brain, vol. 133, http://dx.doi.org/10.1093/brain/awq186

Luty AA; Kwok JBJ; Dobson-Stone C; Loy CT; Coupland KG; Karlström H; Sobow T; Tchorzewska J; Maruszak A; Barcikowska M, 2010, 'Sigma nonopioid intracellular receptor 1 mutations cause frontotemporal lobar degeneration-motor neuron disease', Annals of Neurology, vol. 68, pp. 639 - 649, http://dx.doi.org/10.1002/ana.22274

Kwok J, 2010, 'Role of epigenetics in Alzheimer's and Parkinson's disease', Epigenomics, vol. 2, pp. 671 - 682

Loy CT; Schofield PR; Kwok JBJ, 2009, 'Glycogen Synthase Kinase-3 beta and Tau Genes Interact in Parkinson's and Alzheimer's Diseases Reply', ANNALS OF NEUROLOGY, vol. 65, pp. 761 - 762, http://dx.doi.org/10.1002/ana.21718

Loy CT; Schofield PR; Kwok JBJ, 2009, 'Reply to García-Gorostiaga, et al', Annals of Neurology, vol. 65, pp. 761 - 762, http://dx.doi.org/10.1002/ana.21718

Karlstrom H; Brooks WS; Kwok JBJ; Broe GA; Kril JJ; McCann H; Halliday GM; Schofield PR, 2008, 'Variable phenotype of Alzheimer's disease with spastic paraparesis', Journal of Neurochemistry, vol. 104, pp. 573 - 583, http://dx.doi.org/10.1111/j.1471-4159.2007.05038.x

Luty AA; Kwok JBJ; Thompson EM; Blumbergs P; Brooks WS; Loy CT; Dobson-Stone C; Panegyres PK; Hecker J; Nicholson GA, 2008, 'Pedigree with frontotemporal lobar degeneration - Motor neuron disease and Tar DNA binding protein-43 positive neuropathology: Genetic linkage to chromosome 9', BMC Neurology, vol. 8, http://dx.doi.org/10.1186/1471-2377-8-32

Kwok JBJ; Loy CT; Hamilton G; Lau E; Hallupp M; Williams J; Owen MJ; Broe GA; Tang N; Lam L, 2008, 'Glycogen synthase kinase-3β and tau genes interact in Alzheimer's disease', Annals of Neurology, vol. 64, pp. 446 - 454, http://dx.doi.org/10.1002/ana.21476

Chan DKY; Mok V; Ng PW; Yeung J; Kwok JB; Fang ZM; Clarke R; Wong L; Schofield PR; Hattori N, 2008, 'PARK2 mutations and clinical features in a Chinese population with early-onset Parkinson's disease', Journal of Neural Transmission, vol. 115, pp. 715 - 719, http://dx.doi.org/10.1007/s00702-007-0011-6

Chan SL; Kim WS; Kwok JB; Hill AF; Cappai R; Rye KA; Garner B, 2008, 'ATP-binding cassette transporter A7 regulates processing of amyloid precursor protein in vitro', Journal of Neurochemistry, vol. 106, pp. 793 - 804, http://dx.doi.org/10.1111/j.1471-4159.2008.05433.x

Huang Y; Halliday GM; Vandebona H; Mellick GD; Mastaglia F; Stevens J; Kwok J; Garlepp M; Silburn PA; Horne MK, 2007, 'Prevalence and clinical features of common LRRK2 mutations in Australians with Parkinson's disease', Movement Disorders, vol. 22, pp. 982 - 989, http://dx.doi.org/10.1002/mds.21477

Karlstrom H; Kwok JBJ; Gregory GC; Hallupp M; Brooks WS; Schofield PR, 2007, 'No association of spastic paraparesis genes in PSEN1 Alzheimer's disease with spastic paraparesis', NeuroReport, vol. 18, pp. 1267 - 1269, http://dx.doi.org/10.1097/WNR.0b013e3282405209

Pickering-Brown SM; Baker M; Gass J; Boeve BF; Loy CT; Brooks WS; Mackenzie IRA; Martins RN; Kwok JBJ; Halliday GM, 2006, 'Mutations in progranulin explain atypical phenotypes with variants in MAPT', Brain, vol. 129, pp. 3124 - 3126, http://dx.doi.org/10.1093/brain/awl289

Blair IP; Chetcuti AF; Badenhop RF; Scimone A; Moses MJ; Adams LJ; Craddock N; Green E; Kirov G; Owen MJ, 2006, 'Positional cloning, association analysis and expression studies provide convergent evidence that the cadherin gene FAT contains a bipolar disorder susceptibility allele', Molecular Psychiatry, vol. 11, pp. 372 - 383, http://dx.doi.org/10.1038/sj.mp.4001784

Loy CT; Kwok JBJ; Blair IP; Hallupp M; Todd E; Schofield PR, 2005, 'Tau haplotypes regulate Tau expression in human brains', JOURNAL OF THE NEUROLOGICAL SCIENCES, vol. 238, pp. S323 - S323, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000235088003097&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Panegyres PK; Kwok JBJ; Schofield PR; Blumbergs PC, 2005, 'A Western Australian kindred with Dutch cerebral amyloid angiopathy', Journal of the Neurological Sciences, vol. 239, pp. 75 - 80, http://dx.doi.org/10.1016/j.jns.2005.08.002

Kwok JBJ; Hallupp M; Loy CT; Chan DKY; Woo J; Mellick GD; Buchanan DD; Silburn PA; Halliday GM; Schofield PR, 2005, 'GSK3B polymorphisms alter transcription and splicing in Parkinson's disease', Annals of Neurology, vol. 58, pp. 829 - 839, http://dx.doi.org/10.1002/ana.20691

Halliday GM; Song YJC; Lepar G; Brooks WS; Kwok JB; Kersaitis C; Gregory G; Shepherd CE; Rahimi F; Schofield PR, 2005, 'Pick bodies in a family with presenilin-1 Alzheimer's disease', Annals of Neurology, vol. 57, pp. 139 - 143, http://dx.doi.org/10.1002/ana.20366

Brooks WS; Kwok JBJ; Halliday GM; Godbolt AK; Rossor MN; Creasey H; Jones AO; Schofield PR, 2004, 'Hemorrhage is uncommon in new Alzheimer family with Flemish amyloid precursor protein mutation', Neurology, vol. 63, pp. 1613 - 1617, http://dx.doi.org/10.1212/01.WNL.0000142965.10778.C7

Kwok JBJ; Teber ET; Loy C; Hallupp M; Nicholson G; Mellick GD; Buchanan DD; Silburn PA; Schofield PR, 2004, 'Tau Haplotypes Regulate Transcription and Are Associated with Parkinson's Disease', Annals of Neurology, vol. 55, pp. 329 - 334, http://dx.doi.org/10.1002/ana.10826

Verdile G; Groth D; Mathews PM; St George-Hyslop P; Fraser PE; Ramabhadran TV; Kwok JBJ; Schofield PR; Carter T; Gandy S, 2004, 'Baculoviruses expressing the human familial Alzheimer's disease presenilin 1 mutation lacking exon 9 increase levels of an amyloid beta-like protein in Sf9 cells', Molecular Psychiatry, vol. 9, pp. 594 - 602, http://dx.doi.org/10.1038/sj.mp.4001458

Stanford PM; Brooks WS; Teber ET; Hallupp M; McLean C; Halliday GM; Martins RN; Kwok JBJ; Schofield PR, 2004, 'Frequency of tau mutations in familial and sporadic frontotemporal dementia and other tauopathies', Journal of Neurology, vol. 251, pp. 1098 - 1104, http://dx.doi.org/10.1007/s00415-004-0489-x

Piguet O; Brooks WS; Halliday GM; Schofield PR; Stanford PM; Kwok JBJ; Spillantini MG; Yancopoulou D; Nestor PJ; Broe GA, 2004, 'Similar early clinical presentations in familial and non-familial frontotemporal dementia', Journal of Neurology, Neurosurgery and Psychiatry, vol. 75, pp. 1743 - 1745, http://dx.doi.org/10.1136/jnnp.2003.031948

Shepherd CE; Gregory GC; Vickers JC; Brooks WS; Kwok JBJ; Schofield PR; Kril JJ; Halliday GM, 2004, 'Positional effects of presenilin-1 mutations on tau phosphorylation in cortical plaques', Neurobiology of Disease, vol. 15, pp. 115 - 119, http://dx.doi.org/10.1016/j.nbd.2003.10.008

Carter TL; Verdile G; Groth D; Bogush A; Thomas S; Shen P; Fraser PE; Mathews P; Nixon RA; Ehrlich ME, 2004, 'Alzheimer amyloid precursor aspartyl proteinase activity in CHAPSO homogenates of Spodoptera frugiperda cells', Alzheimer Disease and Associated Disorders, vol. 18, pp. 261 - 263

Brooks WS; Kwok JBJ; Kril JJ; Broe GA; Blumbergs PC; Tannenberg AE; Lamont PJ; Hedges P; Schofield PR, 2003, 'Alzheimer's disease with spastic paraparesis and 'cotton wool' plaques: Two pedigrees with PS-1 exon 9 deletions', Brain, vol. 126, pp. 783 - 791, http://dx.doi.org/10.1093/brain/awg084

Stanford PM; Shepherd CE; Halliday GM; Brooks WS; Schofield PW; Brodaty H; Martins RN; Kwok JBJ; Schofield PR, 2003, 'Mutations in the tau gene that cause an increase in three repeat tau and frontotemporal dementia', Brain, vol. 126, pp. 814 - 826, http://dx.doi.org/10.1093/brain/awg090

Kwok JBJ; Halliday GM; Brooks WS; Dolios G; Laudon H; Murayama O; Hallupp M; Badenhop RF; Vickers J; Wang R, 2003, 'Presenilin-1 mutation L271V results in altered exon 8 splicing and Alzheimer's disease with non-cored plaques and no neuritic dystrophy', Journal of Biological Chemistry, vol. 278, pp. 6748 - 6754, http://dx.doi.org/10.1074/jbc.M211827200

Badenhop RF; Moses MJ; Scimone A; Adams LJ; Kwok JBJ; Jones AM; Davison G; Evans MR; Kirkby KC; Hewitt JE, 2003, 'Genetic refinement and physical mapping of a 2.3 Mb probable disease region associated with a bipolar affective disorder susceptibility locus on chromosome 4q35', American Journal of Medical Genetics - Neuropsychiatric Genetics, vol. 117 B, pp. 23 - 32

Brooks WS; Broe GA; Kwok JBJ; Schofield PR; Kril JJ, 2002, 'Familial Alzheimer's disease with spastic paraparesis: Two pedigrees with PS-1 exon 9 deletion due to splice acceptor mutations', NEUROBIOLOGY OF AGING, vol. 23, pp. S313 - S313, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000177465301145&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Rees MI; Lewis TM; Kwok JBJ; Mortier GR; Govaert P; Snell RG; Schofield PR; Owen MJ, 2002, 'Hyperekplexia associated with compound heterozygote mutations in the β-subunit of the human inhibitory glycine receptor (GLRB)', Human Molecular Genetics, vol. 11, pp. 853 - 860

Brodaty H; Mitchell P; Luscombe G; Kwok JBJ; Badenhop RF; McKenzie R; Schofield PR, 2002, 'Familial idiopathic basal ganglia calcification (Fahr's disease) without neurological, cognitive and psychiatric symptoms is not linked to the IBGC1 locus on chromosome 14q', Human Genetics, vol. 110, pp. 8 - 14, http://dx.doi.org/10.1007/s00439-001-0650-x

Kwok JBJ; Kapoor R; Gotoda T; Iwamoto Y; Iizuka Y; Yamada N; Isaacs KE; Kushwaha VV; Bret Church W; Schofield PR, 2002, 'A missense mutation in kynurenine aminotransferase-1 in spontaneously hypertensive rats', Journal of Biological Chemistry, vol. 277, pp. 35779 - 35782, http://dx.doi.org/10.1074/jbc.C200303200

Münch G; Shepherd CE; McCann H; Brooks WS; Kwok JBJ; Arendt T; Hallupp M; Schofield PR; Martins RN; Halliday GM, 2002, 'Intraneuronal advanced glycation endproducts in presenilin-I Alzheimer's disease', NeuroReport, vol. 13, pp. 601 - 604

Mak K-H; Kwok JC-K, 2001, 'Intradural spinal metastasis from renal cell carcinoma: A case report.', J Orthop Surg (Hong Kong), vol. 9, pp. 57 - 61, http://dx.doi.org/10.1177/230949900100900212

Kwok JB; Raskin S; Morgan G; Antoniuk SA; Bruk I; Schofield PR, 2001, 'Mutations in the glycine receptor alpha1 subunit (GLRA1) gene in hereditary hyperekplexia pedigrees: evidence for non-penetrance of mutation Y279C.', Journal of medical genetics, vol. 38

Wszolek ZK, 2001, 'Progressive supranuclear palsy as a disease phenotype caused by the S305S tau gene mutation', Brain, vol. 124, pp. 1666 - 1670, http://dx.doi.org/10.1093/brain/124.8.1666

Stanford PM; Halliday GM; Brooks WS; Kwok JBJ; Schofield PR, 2001, 'Progressive supranuclear palsy, frontotemporal dementia with parkinsonism linked to chromosome 17 and familial tauopathies', BRAIN, vol. 124, pp. 1668 - 1670, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000170453400019&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Smith MJ; Kwok JBJ; McLean CA; Kril JJ; Anthony Broe G; Nicholson GA; Cappai R; Hallupp M; Cotton RGH; Masters CL, 2001, 'Variable phenotype of Alzheimer's disease with spastic paraparesis', Annals of Neurology, vol. 49, pp. 125 - 129, http://dx.doi.org/10.1002/1531-8249(200101)49:1<125::AID-ANA21>3.0.CO;2-1

Kwok JBJ; Li QX; Hallupp M; Whyte S; Ames D; Beyreuther K; Masters CL; Schofield PR, 2000, 'Novel Leu723Pro amyloid precursor protein mutation increases amyloid β42(43) peptide levels and induces apoptosis', Annals of Neurology, vol. 47, pp. 249 - 253, http://dx.doi.org/10.1002/1531-8249(200002)47:2<249::AID-ANA18>3.0.CO;2-8

Stanford PM; Halliday GM; Brooks WS; Kwok JBJ; Storey CE; Creasey H; Morris JGL; Fulham MJ; Schofield PR, 2000, 'Progressive supranuclear palsy pathology caused by a novel silent mutation in exon 10 of the tau gene. Expansion of the disease phenotype caused by tau gene mutations', Brain, vol. 123, pp. 880 - 893, http://dx.doi.org/10.1093/brain/123.5.880

Verdile G; Fraser PE; Schofield PR; Fisher C; Helmerhorst E; Martins RN, 1999, 'Decreased secretion of amyloid precursor protein in Chinese hamster ovary cells overexpressing presenilin 1', Alzheimer's Reports, vol. 2, pp. 231 - 239

Laws SM; Taddei K; Fisher C; Small D; Clarnette R; Hallmayer J; Brooks WS; Kwok JBJ; Schofield PR; Gandy SE, 1999, 'Evidence that the butyryl-cholinesterase K variant can protect against late-onset Alzheimer's disease', Alzheimer's Reports, vol. 2, pp. 219 - 223

Kwok JBJ; Adams LJ; Salmon JA; Donald JA; Mitchell PB; Schofield PR, 1999, 'Nonparametric simulation-based statistical analyses for bipolar affective disorder locus on chromosome 21q22.3', American Journal of Medical Genetics - Neuropsychiatric Genetics, vol. 88, pp. 99 - 102, http://dx.doi.org/10.1002/(SICI)1096-8628(19990205)88:1<99::AID-AJMG18>3.0.CO;2-9

Taddei K; Kwok JBJ; Kril JJ; Halliday GM; Creasey H; Hallupp M; Fisher C; Brooks WS; Chung C; Andrews C, 1998, 'Two novel presenilin-1 mutations (Ser169Leu and Pro436Gln) associated with very early onset Alzheimer's disease', NeuroReport, vol. 9, pp. 3335 - 3339, http://dx.doi.org/10.1097/00001756-199810050-00034

Baker M; Kwok JBJ; Kucera S; Crook R; Farrer M; Houlden H; Isaacs A; Lincoln S; Onstead L; Hardy J, 1997, 'Localization of frontotemporal dementia with parkinsonism in an Australian kindred to chromosome 17q21-22', Annals of Neurology, vol. 42, pp. 794 - 798, http://dx.doi.org/10.1002/ana.410420516

Kwok JBJ; Taddei K; Hallupp M; Fisher C; Brooks WS; Broe GA; Hardy J; Fulham MJ; Nicholson GA; Stell R, 1997, 'Two novel (M233T and R278T) presenilin-1 mutations in early-onset Alzheimer's disease pedigrees and preliminary evidence for association of presenilin-1 mutations with a novel phenotype', NeuroReport, vol. 8, pp. 1537 - 1542, http://dx.doi.org/10.1097/00001756-199704140-00043

Adams LJ; Salmon J; Kwok JB; Vivero C; Donald JA; Mitchell PB; Schofield PR, 1997, 'Exclusion of linkage Between Bipolar affective disorder and chromosome 16 in 12 Australian pedigrees', American Journal of Medical Genetics Part A, pp. 304 - 310

Brooks WS; Martins RN; De Voecht J; Nicholson GA; Schofield PR; Kwok JBJ; Fisher C; Yeung LU; Van Broeckhoven C, 1995, 'A mutation in codon 717 of the amyloid precursor protein gene in an Australian family with Alzheimer's disease', Neuroscience Letters, vol. 199, pp. 183 - 186, http://dx.doi.org/10.1016/0304-3940(95)12046-7

Mulligan LM; Eng C; Healey CS; Clayton D; Kwok JBJ; Gardner E; Ponder MA; Frilling A; Jackson CE; Lehnert H, 1994, 'Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC', Nature Genetics, vol. 6, pp. 70 - 74, http://dx.doi.org/10.1038/ng0194-70

Gardner E; Mulligan LM; Eng C; Healey CS; Kwok JBJ; Ponder MA; Ponder BAJ, 1994, 'Haplotype analysis of MEN 2 mutations', Human Molecular Genetics, vol. 3, pp. 1771 - 1774, http://dx.doi.org/10.1093/hmg/3.10.1771

Mulligan LM; Kwok JBJ; Healey CS; Elsdon MJ; Eng C; Gardner E; Love DR; Mole SE; Moore JK; Papi L, 1993, 'Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A', Nature, vol. 363, pp. 458 - 460, http://dx.doi.org/10.1038/363458a0

Kwok JBJ; Gardner E; Warner JP; Ponder BAJ; Mulligan LM, 1993, 'Structural analysis of the human ret proto-oncogene using exon trapping', Oncogene, vol. 8, pp. 2575 - 2582

Kwok JBJ; Tattersall MHN, 1992, 'DNA fragmentation, datp pool elevation and potentiation of antifolate cytotoxicity in l1210 cells by hypoxanthine', British Journal of Cancer, vol. 65, pp. 503 - 508, http://dx.doi.org/10.1038/bjc.1992.104

Kwok JBJ; Tattersall MHN, 1991, 'Inhibition of 2-desamino-2-methyl-10-propagyl-5,8-dideazafolic acid cytotoxicity by 5,10-dideazatetrahydrofolate in L1210 cells with decrease in DNA fragmentation and deoxyadenosine triphosphate pools', Biochemical Pharmacology, vol. 42, pp. 507 - 513, http://dx.doi.org/10.1016/0006-2952(91)90312-S

Schofield PR; Luty A; Kwok JB; Thompson E; Blumbergs P; Brooks WS; Loy CT; Dobson-Stone C; Panegyres P; Hecker J, 2008, 'Linkage to chromosome 9 and examination of candidate genes in a pedigree with FTLD-MND and TDP-43 positive neuropathology', in Dementia and Geriatric Cognitive Disorders, Karger, Rotterdam, Netherlands, pp. 9 - 9, presented at 6th International Conference on Frontotemporal Dementias, Rotterdam, Netherlands, 03 - 05 September 2008

Stevens J; Huang Y; Vandenboma H; Halliday GM; Mellick GD; Mastaglia F; Kwok JB; Sue C, 2007, 'Prevalence of LRRK2 mutations in Australians with Parkinson`s disease', in Journal of Clinical Neuroscience, Churchill Livingstone, Canberra, pp. 1009 - 1009, presented at Australian Association of Neurologists Annual Scientific Meeting 2006, Canberra, 01 - 05 May 2006

Huang Y; Halliday GM; Vandebona H; Mellick GD; Mastaglia F; Stevens J; Kwok JB; Garlepp M; Silburn PA; Horne MK, 2007, 'Prevalence of LRRK2 mutations in Australians with Parkinson`s disease', in Movement Disorders, Wiley-Liss, Istanbul, Turkey, pp. 83S - 83S, presented at 11th International Congress of Parkinson`s Disease and Movement Disorders, Istanbul, Turkey, 03 - 07 June 2007

Stevens J; Huang Y; Vandebona H; Halliday GM; Mellick GD; Mastaglia F; Kwok JB; Garlepp M; Silburn PA; Rowe DB, 2006, 'Prevalence of the common LRRK2 mutations in Australians with Parkinson`s disease', in Proceedings of Aust Neuroscience Society, 26th Annual meeting of the Australian Neuroscience Society, Sydney, pp. 147 - 147, presented at 26th Annual meeting of the Australian Neuroscience Society, Sydney, 31 January - 03 February 2006

Verdile G; Groth D; Mathews P; St George-Hyslop P; Fraser P; Ramabhadran TV; Kwok J; Schofield P; Carter T; Gandy S, 2004, 'Baculoviral expression of the presenilin mutation lacking exon 9 increase levels of an amyloid beta - Like protein in SF91NSECTcells', in NEUROBIOLOGY OF AGING, ELSEVIER SCIENCE INC, Philadelphia, PA, pp. S550 - S551, presented at 9th International Conference on Alzheimers Disease and Related Disorders, Philadelphia, PA, 17 - 22 July 2004, http://dx.doi.org/10.1016/S0197-4580(04)81823-2

Gregory GC; Kwok JB; Xuereb J; Schofield PR; Halliday GM, 2004, 'Beta amyloid toxicity in Alzheimer's disease', in NEUROBIOLOGY OF AGING, ELSEVIER SCIENCE INC, Philadelphia, PA, pp. S157 - S158, presented at 9th International Conference on Alzheimers Disease and Related Disorders, Philadelphia, PA, 17 - 22 July 2004, http://dx.doi.org/10.1016/S0197-4580(04)80530-X

Brooks WS; Kwok JB; Halliday GM; Godbolt AK; Rossor MN; Creasey H; Jones A; Schofield PR, 2004, 'Familial Alzheimer's disease and cerebral haemorrhage: A second family with the Flemish APP ALA692GLY mutation', in Neurobiology of Aging, Elsevier Science Inc, Philadelphia, Pennsylvania, pp. S499 - S499, presented at 9th International Conference on Alzheimer's Disease and Related Disorders, Philadelphia, Pennsylvania, 17 - 22 July 2004

Hutton M; Lendon CL; Rizzu P; Baker M; Froelich S; Houlden HH; Pickering-Brown S; Chakraverty S; Isaacs A; Grover A, 1998, 'Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17', in Nature, pp. 702 - 704, http://dx.doi.org/10.1038/31508

Schofield PR; Adams LJ; Kwok JBJ; Salmon JA; Fielder SL; Rosso A; Reid A; Donald JA; Mitchell PB, 1997, 'Identification of a novel genetic linkage with bipolar affective disorder.', in AMERICAN JOURNAL OF MEDICAL GENETICS, WILEY-LISS, pp. 587 - 587, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:A1997YB41400114&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1