Associate Professor John Kwok
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Publications related to this Person
Book Chapters
Brooks WS; Loy CT; Kwok JBJ; Schofield PR, 2012, 'Genetics of dementia', in Cognitive Neurology: A Clinical Textbook, http://dx.doi.org/10.1093/acprof:oso/9780198569275.003.0016
Brooks WS; Loy CT; Kwok JB; Schofield PR, 2008, 'Genetics of Dementia', in Gendelman HE (ed.), Cognitive Neurology: a clinical textbook, Oxford University Press, Oxford, pp. 321 - 345, http://dx.doi.org/10.1016/S0140-6736(13)60630-3
Kwok JB; Li Q; Hallupp M; Milward L; Whyte S; Schofield PR, 1999, 'Novel familial early-onset Alzheimer`s disease mutation (Leu723Pro) in amyloid precursor protein (APP) gene increases production of 42(43) amino acid isoform of amyloid beta peptide', in Iqbal K; Swaab DF; Winblad B; Wisniewski HM (ed.), Alzheimer`s Disease and Related Disorders, John Wiley & Sons, Sussex England, pp. 69 - 79, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000080188100010&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a
Journal articles
Johnson JO; Chia R; Miller DE; Li R; Kumaran R; Abramzon Y; Alahmady N; Renton AE; Topp SD; Gibbs JR; Cookson MR; Sabir MS; Dalgard CL; Troakes C; Jones AR; Shatunov A; Iacoangeli A; Al Khleifat A; Ticozzi N; Silani V; Gellera C; Blair IP; Dobson-Stone C; Kwok JB; Bonkowski ES; Palvadeau R; Tienari PJ; Morrison KE; Shaw PJ; Al-Chalabi A; Brown RH; Calvo A; Mora G; Al-Saif H; Gotkine M; Leigh F; Chang IJ; Perlman SJ; Glass I; Scott AI; Shaw CE; Basak AN; Landers JE; Chiò A; Crawford TO; Smith BN; Traynor BJ; Fallini C; Gkazi AS; Scotter EL; Kenna KP; Keagle P; Tiloca C; Vance C; Colombrita C; King A; Pensato V; Castellotti B; Baas F; Ten Asbroek ALMA; McKenna-Yasek D; McLaughlin RL; Polak M; Asress S; Esteban-Pérez J; Stevic Z; D'Alfonso S; Mazzini L; Comi GP; Del Bo R; Ceroni M; Gagliardi S; Querin G; Bertolin C; Van Rheenen W; Rademakers R; Van Blitterswijk M; Lauria G; Duga S; Corti S; Cereda C; Corrado L; Sorarù G; Williams KL; Nicholson GA; Leblond-Manry C; Rouleau GA; Hardiman O; Veldink JH; Van Den Berg LH; Al-Chalabi A; Pall H; Turner MR; Talbot K, 2021, 'Association of Variants in the SPTLC1 Gene with Juvenile Amyotrophic Lateral Sclerosis', JAMA Neurology, vol. 78, pp. 1236 - 1248, http://dx.doi.org/10.1001/jamaneurol.2021.2598
Jia T; Chu C; Liu Y; van Dongen J; Papastergios E; Armstrong NJ; Bastin ME; Carrillo-Roa T; den Braber A; Harris M; Jansen R; Liu J; Luciano M; Ori APS; Roiz Santiañez R; Ruggeri B; Sarkisyan D; Shin J; Sungeun K; Tordesillas Gutiérrez D; van’t Ent D; Ames D; Artiges E; Bakalkin G; Banaschewski T; Bokde ALW; Brodaty H; Bromberg U; Brouwer R; Büchel C; Burke Quinlan E; Cahn W; de Zubicaray GI; Ehrlich S; Ekström TJ; Flor H; Fröhner JH; Frouin V; Garavan H; Gowland P; Heinz A; Hoare J; Ittermann B; Jahanshad N; Jiang J; Kwok JB; Martin NG; Martinot JL; Mather KA; McMahon KL; McRae AF; Nees F; Papadopoulos Orfanos D; Paus T; Poustka L; Sämann PG; Schofield PR; Smolka MN; Stein DJ; Strike LT; Teeuw J; Thalamuthu A; Trollor J; Walter H; Wardlaw JM; Wen W; Whelan R; Apostolova LG; Binder EB; Boomsma DI; Calhoun V; Crespo-Facorro B; Deary IJ; Hulshoff Pol H; Ophoff RA; Pausova Z; Sachdev PS; Saykin A; Wright MJ; Thompson PM; Schumann G; Desrivières S, 2021, 'Epigenome-wide meta-analysis of blood DNA methylation and its association with subcortical volumes: findings from the ENIGMA Epigenetics Working Group', Molecular Psychiatry, vol. 26, pp. 3884 - 3895, http://dx.doi.org/10.1038/s41380-019-0605-z
Shin J; Ma S; Hofer E; Patel Y; Vosberg DE; Tilley S; Roshchupkin GV; Sousa AMM; Jian X; Gottesman R; Mosley TH; Fornage M; Saba Y; Pirpamer L; Schmidt R; Schmidt H; Carrion-Castillo A; Crivello F; Mazoyer B; Bis JC; Li S; Yang Q; Luciano M; Karama S; Lewis L; Bastin ME; Harris MA; Wardlaw JM; Deary IE; Scholz M; Loeffler M; Witte AV; Beyer F; Villringer A; Armstrong NJ; Mather KA; Ames D; Jiang J; Kwok JB; Schofield PR; Thalamuthu A; Trollor JN; Wright MJ; Brodaty H; Wen W; Sachdev PS; Terzikhan N; Evans TE; Adams HHHH; Ikram MA; Frenzel S; van der Auwera-Palitschka S; Wittfeld K; Bülow R; Grabe HJ; Tzourio C; Mishra A; Maingault S; Debette S; Gillespie NA; Franz CE; Kremen WS; Ding L; Jahanshad N; Sestan N; Pausova Z; Seshadri S; Paus T, 2021, 'Global and regional development of the human cerebral cortex: Molecular architecture and occupational aptitudes', Cerebral Cortex, vol. 30, pp. 4121 - 4139, http://dx.doi.org/10.1093/CERCOR/BHAA035
Vallerga CL; Zhang F; Fowdar J; McRae AF; Qi T; Nabais MF; Zhang Q; Kassam I; Henders AK; Wallace L; Montgomery G; Chuang YH; Horvath S; Ritz B; Halliday G; Hickie I; Kwok JB; Pearson J; Pitcher T; Kennedy M; Bentley SR; Silburn PA; Yang J; Wray NR; Lewis SJG; Anderson T; Dalrymple-Alford J; Mellick GD; Visscher PM; Gratten J, 2020, 'Analysis of DNA methylation associates the cystine–glutamate antiporter SLC7A11 with risk of Parkinson’s disease', Nature Communications, vol. 11, pp. 1238, http://dx.doi.org/10.1038/s41467-020-15065-7
Gao Y; Wang T; Yu X; Ferrari R; Hernandez DG; Nalls MA; Rohrer JD; Ramasamy A; Kwok JBJ; Dobson-Stone C; Brooks WS; Schofield PR; Halliday GM; Hodges JR; Piguet O; Bartley L; Thompson E; Haan E; Hernández I; Ruiz A; Boada M; Borroni B; Padovani A; Cruchaga C; Cairns NJ; Benussi L; Binetti G; Ghidoni R; Forloni G; Albani D; Galimberti D; Fenoglio C; Serpente M; Scarpini E; Clarimón J; Lleó A; Blesa R; Waldö ML; Nilsson K; Nilsson C; Mackenzie IRA; Hsiung GYR; Mann DMA; Grafman J; Morris CM; Attems J; Griffiths TD; McKeith IG; Thomas AJ; Pietrini P; Huey ED; Wassermann EM; Baborie A; Jaros E; Tierney MC; Pastor P; Razquin C; Ortega-Cubero S; Alonso E; Perneczky R; Diehl-Schmid J; Alexopoulos P; Kurz A; Rainero I; Rubino E; Pinessi L; Rogaeva E; George-Hyslop PS; Rossi G; Tagliavini F; Giaccone G; Rowe JB; Schlachetzki JCM; Uphill J; Collinge J; Mead S; Danek A; Van Deerlin VM; Grossman M; Trojanowski JQ; van der Zee J; Cruts M; Van Broeckhoven C; Cappa SF; Leber I; Hannequin D; Golfier V; Vercelletto M; Brice A; Nacmias B; Sorbi S; Bagnoli S; Piaceri I; Nielsen JE; Hjermind LE; Riemenschneider M; Mayhaus M; Ibach B; Gasparoni G; Pichler S, 2020, 'Mendelian randomization implies no direct causal association between leukocyte telomere length and amyotrophic lateral sclerosis', Scientific Reports, vol. 10, http://dx.doi.org/10.1038/s41598-020-68848-9
Hofer E; Roshchupkin GV; Adams HHH; Knol MJ; Lin H; Li S; Zare H; Ahmad S; Armstrong NJ; Satizabal CL; Bernard M; Bis JC; Gillespie NA; Luciano M; Mishra A; Scholz M; Teumer A; Xia R; Jian X; Mosley TH; Saba Y; Pirpamer L; Seiler S; Becker JT; Carmichael O; Rotter JI; Psaty BM; Lopez OL; Amin N; van der Lee SJ; Yang Q; Himali JJ; Maillard P; Beiser AS; Decarli C; Karama S; Lewis L; Harris M; Bastin ME; Deary IJ; Witte AV; Beyer F; Loeffler M; Mather KA; Schofield PR; Thalamuthu A; Kwok JB; Wright MJ; Ames D; Trollor J; Jiang J; Brodaty H; Wen W; Vernooij MW; Hofman A; Uitterlinden AG; Niessen WJ; Wittfeld K; Bülow R; Völker U; Pausova Z; Pike GB; Maingault S; Crivello F; Tzourio C; Amouyel P; Mazoyer B; Neale MC; Franz CE; Lyons MJ; Panizzon MS; Andreassen OA; Dale AM; Logue M; Grasby KL; Jahanshad N; Painter JN; Colodro-Conde L; Bralten J; Hibar DP; Lind PA; Pizzagalli F; Stein JL; Thompson PM; Medland SE; Sachdev PS; Kremen WS; Wardlaw JM; Villringer A; van Duijn CM; Grabe HJ; Longstreth WT; Fornage M; Paus T; Debette S; Ikram MA; Schmidt H; Schmidt R; Seshadri S; Ching CRK, 2020, 'Genetic correlations and genome-wide associations of cortical structure in general population samples of 22,824 adults', Nature Communications, vol. 11, http://dx.doi.org/10.1038/s41467-020-18367-y
Kwok JB; Loy CT; Dobson-Stone C; Halliday GM, 2020, 'The complex relationship between genotype, pathology and phenotype in familial dementia', Neurobiology of Disease, vol. 145, http://dx.doi.org/10.1016/j.nbd.2020.105082
Armstrong NJ; Mather KA; Sargurupremraj M; Knol MJ; Malik R; Satizabal CL; Yanek LR; Wen W; Gudnason VG; Dueker ND; Elliott LT; Hofer E; Bis J; Jahanshad N; Li S; Logue MA; Luciano M; Scholz M; Smith AV; Trompet S; Vojinovic D; Xia R; Alfaro-Almagro F; Ames D; Amin N; Amouyel P; Beiser AS; Brodaty H; Deary IJ; Fennema-Notestine C; Gampawar PG; Gottesman R; Griffanti L; Jack CR; Jenkinson M; Jiang J; Kral BG; Kwok JB; Lampe L; Liewald DCM; Maillard P; Marchini J; Bastin ME; Mazoyer B; Pirpamer L; Romero JR; Roshchupkin GV; Schofield PR; Schroeter ML; Stott DJ; Thalamuthu A; Trollor J; Tzourio C; van der Grond J; Vernooij MW; Witte VA; Wright MJ; Yang Q; Morris Z; Siggurdsson S; Psaty B; Villringer A; Schmidt H; Haberg AK; van Duijn CM; Wouter Jukema J; Dichgans M; Sacco RL; Wright CB; Kremen WS; Becker LC; Thompson PM; Mosley TH; Wardlaw JM; Ikram MA; Adams HHH; Seshadri S; Sachdev PS; Smith SM; Launer L; Longstreth W; DeCarli C; Schmidt R; Fornage M; Debette S; Nyquist PA, 2020, 'Common genetic variation indicates separate causes for periventricular and deep white matter hyperintensities', Stroke, vol. 51, pp. 2112 - 2121, http://dx.doi.org/10.1161/STROKEAHA.119.027544
Forrest SL; Halliday GM; Shepherd CE; Kwok JB; Hallupp M; Kril JJ, 2020, 'Are mutations in MAPT associated with GGT type III?', Neuropathology and Applied Neurobiology, vol. 46, pp. 406 - 409, http://dx.doi.org/10.1111/nan.12583
van der Lee SJ; Conway OJ; Jansen I; Carrasquillo MM; Kleineidam L; van den Akker E; Hernández I; van Eijk KR; Stringa N; Chen JA; Zettergren A; Andlauer TFM; Diez-Fairen M; Simon-Sanchez J; Lleó A; Zetterberg H; Nygaard M; Blauwendraat C; Savage JE; Mengel-From J; Moreno-Grau S; Wagner M; Fortea J; Keogh MJ; Blennow K; Skoog I; Friese MA; Pletnikova O; Zulaica M; Lage C; de Rojas I; Riedel-Heller S; Illán-Gala I; Wei W; Jeune B; Orellana A; Then Bergh F; Wang X; Hulsman M; Beker N; Tesi N; Morris CM; Indakoetxea B; Collij LE; Scherer M; Morenas-Rodríguez E; Ironside JW; van Berckel BNM; Alcolea D; Wiendl H; Strickland SL; Pastor P; Rodríguez Rodríguez E; Mead S; Synofzik M; van Swieten JC; Leber I; Ferrari R; Hernandez DG; Nalls MA; Rohrer JD; Ramasamy A; Kwok JBJ; Dobson-Stone C; Schofield PR; Halliday GM; Hodges JR; Piguet O; Bartley L; Thompson E; Borroni B; Padovani A; Cruchaga C; Cairns NJ; Benussi L; Binetti G; Ghidoni R; Forloni G; Albani D; Galimberti D; Fenoglio C; Serpente M; Scarpini E; Blesa R; Landqvist Waldö M; Nilsson K; Nilsson C; Mackenzie IRA; Hsiung GYR; Mann DMA; Grafman J; Attems J; Griffiths TD; McKeith IG; Thomas AJ; Pietrini P; Huey ED; Wassermann EM; Baborie A, 2020, 'Correction to: A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer’s disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity (Acta Neuropathologica, (2019), 138, 2, (237-250), 10.1007/s00401-019-02026-8)', Acta Neuropathologica, vol. 139, pp. 959 - 962, http://dx.doi.org/10.1007/s00401-019-02107-8
Van Der Meer D; Sønderby IE; Kaufmann T; Walters GB; Abdellaoui A; Ames D; Amunts K; Andersson M; Armstrong NJ; Bernard M; Blackburn NB; Blangero J; Boomsma DI; Brodaty H; Brouwer RM; Bülow R; Cahn W; Calhoun VD; Caspers S; Cavalleri GL; Ching CRK; Cichon S; Ciufolini S; Corvin A; Crespo-Facorro B; Curran JE; Dalvie S; Dazzan P; De Geus EJC; De Zubicaray GI; De Zwarte SMC; Delanty N; Den Braber A; Desrivieres S; Di Forti M; Doherty JL; Donohoe G; Ehrlich S; Eising E; Espeseth T; Fisher SE; Fladby T; Frei O; Frouin V; Fukunaga M; Gareau T; Glahn DC; Grabe HJ; Groenewold NA; Gústafsson Ó; Haavik J; Haberg AK; Hashimoto R; Hehir-Kwa JY; Hibar DP; Hillegers MHJ; Hoffmann P; Holleran L; Hottenga JJ; Hulshoff Pol HE; Ikeda M; Jacquemont S; Jahanshad N; Jockwitz C; Johansson S; Jönsson EG; Kikuchi M; Knowles EEM; Kwok JB; Le Hellard S; Linden DEJ; Liu J; Lundervold A; Lundervold AJ; Martin NG; Mather KA; Mathias SR; McMahon KL; McRae AF; Medland SE; Moberget T; Moreau C; Morris DW; Mühleisen TW; Murray RM; Nordvik JE; Nyberg L; Olde Loohuis LM; Ophoff RA; Owen MJ; Paus T; Pausova Z; Peralta JM; Pike B; Prieto C; Quinlan EB; Reinbold CS; Reis Marques T; Rucker JJH; Sachdev PS, 2020, 'Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region with Cortical and Subcortical Morphology and Cognition', JAMA Psychiatry, vol. 77, pp. 420 - 430, http://dx.doi.org/10.1001/jamapsychiatry.2019.3779
Grasby KL; Jahanshad N; Painter JN; Colodro-Conde L; Bralten J; Hibar DP; Lind PA; Pizzagalli F; Ching CRK; McMahon MAB; Shatokhina N; Zsembik LCP; Thomopoulos SI; Zhu AH; Strike LT; Agartz I; Alhusaini S; Almeida MAA; Alnæs D; Amlien IK; Andersson M; Ard T; Armstrong NJ; Ashley-Koch A; Atkins JR; Bernard M; Brouwer RM; Buimer EEL; Bülow R; Bürger C; Cannon DM; Chakravarty M; Chen Q; Cheung JW; Couvy-Duchesne B; Dale AM; Dalvie S; de Araujo TK; de Zubicaray GI; de Zwarte SMC; den Braber A; Doan NT; Dohm K; Ehrlich S; Engelbrecht HR; Erk S; Fan CC; Fedko IO; Foley SF; Ford JM; Fukunaga M; Garrett ME; Ge T; Giddaluru S; Goldman AL; Green MJ; Groenewold NA; Grotegerd D; Gurholt TP; Gutman BA; Hansell NK; Harris MA; Harrison MB; Haswell CC; Hauser M; Herms S; Heslenfeld DJ; Ho NF; Hoehn D; Hoffmann P; Holleran L; Hoogman M; Hottenga JJ; Ikeda M; Janowitz D; Jansen IE; Jia T; Jockwitz C; Kanai R; Karama S; Kasperaviciute D; Kaufmann T; Kelly S; Kikuchi M; Klein M; Knapp M; Knodt AR; Krämer B; Lam M; Lancaster TM; Lee PH; Lett TA; Lewis LB; Lopes-Cendes I; Luciano M; Macciardi F; Marquand AF; Mathias SR; Melzer TR; Milaneschi Y, 2020, 'The genetic architecture of the human cerebral cortex', Science, vol. 367, http://dx.doi.org/10.1126/science.aay6690
Sønderby IE; Gústafsson Ó; Doan NT; Hibar DP; Martin-Brevet S; Abdellaoui A; Ames D; Amunts K; Andersson M; Armstrong NJ; Bernard M; Blackburn N; Blangero J; Boomsma DI; Bralten J; Brattbak HR; Brodaty H; Brouwer RM; Bülow R; Calhoun V; Caspers S; Cavalleri G; Chen CH; Cichon S; Ciufolini S; Corvin A; Crespo-Facorro B; Curran JE; Dale AM; Dalvie S; Dazzan P; de Geus EJC; de Zubicaray GI; de Zwarte SMC; Delanty N; den Braber A; Desrivières S; Donohoe G; Draganski B; Ehrlich S; Espeseth T; Fisher SE; Franke B; Frouin V; Fukunaga M; Gareau T; Glahn DC; Grabe H; Groenewold NA; Haavik J; Håberg A; Hashimoto R; Hehir-Kwa JY; Heinz A; Hillegers MHJ; Hoffmann P; Holleran L; Hottenga JJ; Hulshoff HE; Ikeda M; Jahanshad N; Jernigan T; Jockwitz C; Johansson S; Jonsdottir GA; Jönsson EG; Kahn R; Kaufmann T; Kelly S; Kikuchi M; Knowles EEM; Kolskår KK; Kwok JB; Hellard SL; Leu C; Liu J; Lundervold AJ; Lundervold A; Martin NG; Mather K; Mathias SR; McCormack M; McMahon KL; McRae A; Milaneschi Y; Moreau C; Morris D; Mothersill D; Mühleisen TW; Murray R; Nordvik JE; Nyberg L; Olde Loohuis LM; Ophoff R; Paus T; Pausova Z; Penninx B; Peralta JM; Pike B; Prieto C, 2020, 'Correction: Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia (Molecular Psychiatry, (2020), 25, 3, (584-602), 10.1038/s41380-018-0118-1)', Molecular Psychiatry, vol. 25, pp. 692 - 695, http://dx.doi.org/10.1038/s41380-019-0358-8
Sønderby IE; Gústafsson Ó; Doan NT; Hibar DP; Martin-Brevet S; Abdellaoui A; Ames D; Amunts K; Andersson M; Armstrong NJ; Bernard M; Blackburn N; Blangero J; Boomsma DI; Bralten J; Brattbak HR; Brodaty H; Brouwer RM; Bülow R; Calhoun V; Caspers S; Cavalleri G; Chen CH; Cichon S; Ciufolini S; Corvin A; Crespo-Facorro B; Curran JE; Dale AM; Dalvie S; Dazzan P; de Geus EJC; de Zubicaray GI; de Zwarte SMC; Delanty N; den Braber A; Desrivières S; Donohoe G; Draganski B; Ehrlich S; Espeseth T; Fisher SE; Franke B; Frouin V; Fukunaga M; Gareau T; Glahn DC; Grabe H; Groenewold NA; Haavik J; Håberg A; Hashimoto R; Hehir-Kwa JY; Heinz A; Hillegers MHJ; Hoffmann P; Holleran L; Hottenga JJ; Hulshoff HE; Ikeda M; Jahanshad N; Jernigan T; Jockwitz C; Johansson S; Jonsdottir GA; Jönsson EG; Kahn R; Kaufmann T; Kelly S; Kikuchi M; Knowles EEM; Kolskår KK; Kwok JB; Hellard SL; Leu C; Liu J; Lundervold AJ; Lundervold A; Martin NG; Mather K; Mathias SR; McCormack M; McMahon KL; McRae A; Milaneschi Y; Moreau C; Morris D; Mothersill D; Mühleisen TW; Murray R; Nordvik JE; Nyberg L; Olde Loohuis LM; Ophoff R; Paus T; Pausova Z; Penninx B; Peralta JM; Pike B; Prieto C, 2020, 'Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia', Molecular Psychiatry, vol. 25, pp. 584 - 602, http://dx.doi.org/10.1038/s41380-018-0118-1
Dobson-Stone C; Hallupp M; Shahheydari H; Ragagnin AMG; Chatterton Z; Carew-Jones F; Shepherd CE; Stefen H; Paric E; Fath T; Thompson EM; Blumbergs P; Short CL; Field CD; Panegyres PK; Hecker J; Nicholson G; Shaw AD; Fullerton JM; Luty AA; Schofield PR; Brooks WS; Rajan N; Bennett MF; Bahlo M; Shankaracharya ; Landers JE; Piguet O; Hodges JR; Halliday GM; Topp SD; Smith BN; Shaw CE; McCann E; Fifita JA; Williams KL; Atkin JD; Blair IP; Kwok JB, 2020, 'CYLD is a causative gene for frontotemporal dementia - Amyotrophic lateral sclerosis', Brain, vol. 143, pp. 783 - 799, http://dx.doi.org/10.1093/brain/awaa039
Moore KM; Nicholas J; Grossman M; McMillan CT; Irwin DJ; Massimo L; Van Deerlin VM; Warren JD; Fox NC; Rossor MN; Mead S; Bocchetta M; Boeve BF; Knopman DS; Graff-Radford NR; Forsberg LK; Rademakers R; Wszolek ZK; van Swieten JC; Jiskoot LC; Meeter LH; Dopper EG; Papma JM; Snowden JS; Saxon J; Jones M; Pickering-Brown S; Le Ber I; Camuzat A; Brice A; Caroppo P; Ghidoni R; Pievani M; Benussi L; Binetti G; Dickerson BC; Lucente D; Krivensky S; Graff C; Öijerstedt L; Fallström M; Thonberg H; Ghoshal N; Morris JC; Borroni B; Benussi A; Padovani A; Galimberti D; Scarpini E; Fumagalli GG; Mackenzie IR; Hsiung GYR; Sengdy P; Boxer AL; Rosen H; Taylor JB; Synofzik M; Wilke C; Sulzer P; Hodges JR; Halliday G; Kwok J; Sanchez-Valle R; Lladó A; Borrego-Ecija S; Santana I; Almeida MR; Tábuas-Pereira M; Moreno F; Barandiaran M; Indakoetxea B; Levin J; Danek A; Rowe JB; Cope TE; Otto M; Anderl-Straub S; de Mendonça A; Maruta C; Masellis M; Black SE; Couratier P; Lautrette G; Huey ED; Sorbi S; Nacmias B; Laforce R; Tremblay MPL; Vandenberghe R; Damme PV; Rogalski EJ; Weintraub S; Gerhard A; Onyike CU; Ducharme S; Papageorgiou SG; Ng ASL; Brodtmann A; Finger E; Guerreiro R, 2020, 'Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study', The Lancet Neurology, vol. 19, pp. 145 - 156, http://dx.doi.org/10.1016/S1474-4422(19)30394-1
Forrest SL; Halliday GM; McCann H; McGeachie AB; McGinley CV; Hodges JR; Piguet O; Kwok JB; Spillantini MG; Kril JJ, 2019, 'Heritability in frontotemporal tauopathies', Alzheimer's and Dementia: Diagnosis, Assessment and Disease Monitoring, vol. 11, pp. 115 - 124, http://dx.doi.org/10.1016/j.dadm.2018.12.001
Davies G; Lam M; Harris SE; Trampush JW; Luciano M; Hill WD; Hagenaars SP; Ritchie SJ; Marioni RE; Fawns-Ritchie C; Liewald DCM; Okely JA; Ahola-Olli AV; Barnes CLK; Bertram L; Bis JC; Burdick KE; Christoforou A; DeRosse P; Djurovic S; Espeseth T; Giakoumaki S; Giddaluru S; Gustavson DE; Hayward C; Hofer E; Ikram MA; Karlsson R; Knowles E; Lahti J; Leber M; Li S; Mather KA; Melle I; Morris D; Oldmeadow C; Palviainen T; Payton A; Pazoki R; Petrovic K; Reynolds CA; Sargurupremraj M; Scholz M; Smith JA; Smith AV; Terzikhan N; Thalamuthu A; Trompet S; van der Lee SJ; Ware EB; Windham BG; Wright MJ; Yang J; Yu J; Ames D; Amin N; Amouyel P; Andreassen OA; Armstrong NJ; Assareh AA; Attia JR; Attix D; Avramopoulos D; Bennett DA; Böhmer AC; Boyle PA; Brodaty H; Campbell H; Cannon TD; Cirulli ET; Congdon E; Conley ED; Corley J; Cox SR; Dale AM; Dehghan A; Dick D; Dickinson D; Eriksson JG; Evangelou E; Faul JD; Ford I; Freimer NA; Gao H; Giegling I; Gillespie NA; Gordon SD; Gottesman RF; Griswold ME; Gudnason V; Harris TB; Hartmann AM; Hatzimanolis A; Heiss G; Holliday EG; Joshi PK; Kähönen M; Kardia SLR; Karlsson I; Kleineidam L, 2019, 'Author Correction: Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function (Nature Communications, (2018), 9, 1, (2098), 10.1038/s41467-018-04362-x)', Nature Communications, vol. 10, pp. 2068, http://dx.doi.org/10.1038/s41467-019-10160-w
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Thompson PM; Stein JL; Medland SE; Hibar DP; Vasquez AA; Renteria ME; Toro R; Jahanshad N; Schumann G; Franke B; Wright MJ; Martin NG; Agartz I; Alda M; Alhusaini S; Almasy L; Almeida J; Alpert K; Andreasen NC; Andreassen OA; Apostolova LG; Appel K; Armstrong NJ; Aribisala B; Bastin ME; Bauer M; Bearden CE; Bergmann Ø; Binder EB; Blangero J; Bockholt HJ; Bøen E; Bois C; Boomsma DI; Booth T; Bowman IJ; Bralten J; Brouwer RM; Brunner HG; Brohawn DG; Buckner RL; Buitelaar J; Bulayeva K; Bustillo JR; Calhoun VD; Cannon DM; Cantor RM; Carless MA; Caseras X; Cavalleri GL; Chakravarty MM; Chang KD; Ching CRK; Christoforou A; Cichon S; Clark VP; Conrod P; Coppola G; Crespo-Facorro B; Curran JE; Czisch M; Deary IJ; de Geus EJC; den Braber A; Delvecchio G; Depondt C; de Haan L; de Zubicaray GI; Dima D; Dimitrova R; Djurovic S; Dong H; Donohoe G; Duggirala R; Dyer TD; Ehrlich S; Ekman CJ; Elvsåshagen T; Emsell L; Erk S; Espeseth T; Fagerness J; Fears S; Fedko I; Fernández G; Fisher SE; Foroud T; Fox PT; Francks C; Frangou S; Frey EM; Frodl T; Frouin V; Garavan H; Giddaluru S; Glahn DC; Godlewska B; Goldstein RZ; Gollub RL; Grabe HJ, 2014, 'The ENIGMA Consortium: Large-scale collaborative analyses of neuroimaging and genetic data', Brain Imaging and Behavior, vol. 8, pp. 153 - 182, http://dx.doi.org/10.1007/s11682-013-9269-5
Loy CT; Schofield PR; Turner AM; Kwok JBJ, 2014, 'Genetics of dementia', The Lancet, vol. 383, pp. 828 - 840, http://dx.doi.org/10.1016/S0140-6736(13)60630-3
Assareh AA; Mather KA; Crawford JD; Wen W; Anstey KJ; Easteal S; Tan X; Mack HA; Kwok JBJ; Schofield PR; Sachdev PS, 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
Ferrari R; Hernandez DG; Nalls MA; Rohrer JD; Ramasamy A; Kwok JBJ; Dobson-Stone C; Brooks William S. BS; Schofield PR; Halliday GM; Hodges JR; Piguet O; Bartley L; Thompson E; Haan E; Hernández I; Ruiz A; Boada M; Borroni B; Padovani A; Cruchaga C; Cairns NJ; Benussi L; Binetti G; Ghidoni R; Forloni G; Galimberti D; Fenoglio C; Serpente M; Scarpini E; Clarimón J; Lleó A; Blesa R; Waldö ML; Nilsson K; Nilsson C; Mackenzie IRA; Hsiung GYR; Mann DMA; Grafman J; Morris CM; Attems J; Griffiths TD; McKeith IG; Thomas AJ; Pietrini P; Huey ED; Wassermann EM; Baborie A; Jaros E; Tierney MC; Pastor P; Razquin C; Ortega-Cubero S; Alonso E; Perneczky R; Diehl-Schmid J; Alexopoulos P; Kurz A; Rainero I; Rubino E; Pinessi L; Rogaeva E; St George-Hyslop P; Rossi G; Tagliavini F; Giaccone G; Rowe JB; Schlachetzki JCM; Uphill J; Collinge J; Mead S; Danek A; Van Deerlin VM; Grossman M; Trojanowski JQ; Van der Zee J; Deschamps W; Van Langenhove T; Cruts M; Van Broeckhoven C; Cappa SF; Le Ber I; Hannequin D; Golfier V; Vercelletto M; Brice A; Nacmias B; Sorbi S; Bagnoli S; Piaceri I; Nielsen JE; Hjermind LE; Riemenschneider M; Mayhaus M; Ibach B; Gasparoni G; Pichler S; Gu W; Rossor MN, 2014, 'Frontotemporal dementia and its subtypes: A genome-wide association study', The Lancet Neurology, vol. 13, pp. 686 - 699, http://dx.doi.org/10.1016/S1474-4422(14)70065-1
Fu YH; Rusznák Z; Kwok JBJ; Kim WS; Paxinos G, 2014, 'Age-dependent alterations of the hippocampal cell composition and proliferative potential in the hAβPPSwInd-J20 mouse', Journal of Alzheimer's Disease, vol. 41, pp. 1177 - 1192, http://dx.doi.org/10.3233/JAD-132717
Coupland KG; Mellick GD; Silburn PA; Mather K; Armstrong NJ; Sachdev PS; Brodaty H; Huang Y; Halliday GM; Hallupp M; Kim WS; Dobson-Stone C; Kwok JBJ, 2014, 'DNA methylation of the MAPT gene in Parkinson's disease cohorts and modulation by vitamin E In Vitro', Movement Disorders, vol. 29, pp. 1606 - 1614, http://dx.doi.org/10.1002/mds.25784
Assareh AA; Piguet O; Lye TC; Mather KA; Broe GA; Schofield PR; Sachdev PS; Kwok JB, 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
Po K; Leslie FVC; Gracia N; Bartley L; Kwok JBJ; Halliday GM; Hodges JR; Burrell JR, 2014, 'Heritability in frontotemporal dementia: more missing pieces?', Journal of Neurology, vol. 261, pp. 2170 - 2177, http://dx.doi.org/10.1007/s00415-014-7474-9
Sachdev PS; Lee T; Wen W; Ames D; Batouli AH; Bowden J; Brodaty H; Chong E; Crawford J; Kang K; Mather K; Lammel A; Slavin MJ; Thalamuthu A; Trollor J; Wright MJ; OATS Research Team , 2013, 'The contribution of twins to the study of cognitive ageing and dementia: The Older Australian Twins Study', International Review of Psychiatry, vol. 25, pp. 738 - 747, http://dx.doi.org/10.3109/09540261.2013.870137
Dang TNT; Dobson-Stone C; Glaros EN; Kim WS; Hallupp M; Bartley L; Piguet O; Hodges JR; Halliday GM; Double KL; Schofield PR; Crouch PJ; Kwok JBJ, 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
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
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
Dobson-Stone C; Polly P; Korgaonkar M; Williams LM; Gordon E; Schofield PR; Mather KA; Armstrong N; Wen W; Sachdev PS; Kwok JB, 2013, 'GSK3B and MAPT polymorphisms are associated with grey matter and intracranial volume in healthy individuals', PLoS One, vol. 8, pp. e71750, http://dx.doi.org/10.1371/journal.pone.0071750
Kanchibhotla SC; Mather KA; Wen W; Schofield PR; Kwok J; 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; Luty A; Thompson EM; Blumbergs P; Brooks WS; Short CL; Field C; Panegyres P; Hecker J; Solski JA; Blair I; Fullerton JM; Halliday GM; Schofield PR; Kwok J, 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
Dobson-Stone C; Hallupp M; Loy CT; Thompson EJ; Haan E; Sue C; Panegyres P; Razquin C; Seijo-Martínez M; Rene R; Gascon J; Campdelacreu J; Schmoll B; Volk AE; Brooks WS; Schofield PR; Pastor P; Kwok J, 2013, 'C9ORF72 Repeat Expansion in Australian and Spanish Frontotemporal Dementia Patients', PLoS ONE, vol. 8, pp. e56899, http://dx.doi.org/10.1371/journal.pone.0056899
Wong JCY; 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
Porter MA; Dobson-Stone C; Kwok JB; Schofield PR; Beckett W; Tassabehji M, 2012, 'A Role for Transcription Factor GTF2IRD2 in Executive Function in Williams-Beuren Syndrome', PLoS ONE, vol. 7, pp. Art. No. e47457, http://dx.doi.org/10.1371/journal.pone.0047457
Dobson-Stone C; Hallupp M; Bartley L; Shepherd CE; Halliday GM; Schofield PR; Hodges JR; Kwok J, 2012, 'C9ORF72 repeat expansion in clinical and neuropathological frontotemporal dementia cohorts', Neurology, vol. 79, pp. 995 - 1001, http://dx.doi.org/10.1212/WNL.0b013e3182684634
Elliott DA; Kim WS; Gorissen SV; Halliday GM; Kwok J, 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
Huang Y; Zheng L; Halliday ; Dobson-Stone C; Wang Y; Tang HD; Cao L; Deng YL; Wang G; Zhang Y; Wang J; Hallupp M; Kwok J; Chen SD, 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
Assareh A; Mather KA; Schofield PR; Kwok J; 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
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
Kwok J, 2010, 'Role of epigenetics in Alzheimer's and Parkinson's disease', Epigenomics, vol. 2, pp. 671 - 682, http://dx.doi.org/10.2217/epi.10.43
Luty A; Kwok J; Dobson-Stone C; Loy CT; Coupland K; Karlstrom H; Sobow T; Tchorzewska J; Maruszak A; Barcikowska M; Panegyres P; Zekanowski C; Brooks WS; Williams KE; Blair IP; Mather KA; Sachdev PS; Halliday GM; Schofield PR, 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
Loy C; McCusker E; Kril J; Kwok J; Brooks WS; Mccann H; Isaacs A; Halliday GM, 2010, 'Very early onset frontotemporal dementia with no family history preducts underlying fused in sarcoma pathology', Brain, vol. 133, pp. e158, http://dx.doi.org/10.1093/brain/awq186
Schofield E; 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; Jillian JK; Trollor JN; Kiernan MC; Kwok J; Vucic O; 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
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
Loy CT; Schofield PR; Kwok JB, 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
Chan LL; Kim WS; Kwok JB; Hill AF; Cappai R; Rye K; 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
Chan DK; Mok VW; Ng P; Yeung J; Kwok JB; Fang ZM; Clarke RA; 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
Kwok JB; Loy CT; Hamilton G; Lau E; Hallupp M; Williams J; Owen MJ; Broe T; Tang N; Lam L; Powell JM; Lovestone S; Schofield PR, 2008, 'Glycogen synthase kinase-3beta and tau genes interact in Alzheimer`s disease', Annals of Neurology, vol. 64, pp. 446 - 454, http://dx.doi.org/10.1002/ana.21476
Luty A; Kwok JB; Thompson E; Blumbergs PC; Brooks WS; Loy CT; Dobson-Stone C; Panegyres P; Hecker J; Nicholson GA; Halliday GM; Schofield PR, 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
Karlstrom H; Brooks WS; Kwok JB; Broe T; Kril J; 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
Karlstrom H; Kwok JB; Gregory GC; Hallupp M; Brooks WS; Schofield PR, 2007, 'No association of spastic paraparesis genes in PSENI Alzheimer`s disease with spastic paraparesis', Neuroreport, vol. 18, pp. 1267 - 1269, http://dx.doi.org/10.1097/WNR.0b013e3282405209
Huang Y; Halliday GM; Vandebona H; Mellick GD; Mastaglia F; Stevens J; Kwok JB; Garlepp M; Silburn PA; Horne MK; Kotschet K; Venn A; Rowe DB; Rubio J; Sue C, 2007, 'Prevalence and clinical features of common LRRK2 mutations in Australians with Parkinson`s disease', Movement Disorders, vol. 27, pp. 982 - 989, http://dx.doi.org/10.1002/mds.21477
Blair I; Chetcuti A; Badenhop RF; Scimone A; Moses MJ; Adams LJ; Craddock N; Green E; Kirov G; Owen MJ; Kwok JB; Donald JA; Mitchell PB; Schofield PR, 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
Pickering-Brown S; Baker M; Gass J; Boeve B; Loy CT; Brooks WS; Mackenzie IR; Martins RN; Kwok JB; Halliday GM; Kril J; Schofield PR; Mann DM; Hutton M, 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
Halliday GM; Song YC; Lepar GS; Brooks WS; Kwok JB; Kersaitis C; Gregory GC; Shepherd CE; Rahimi F; Schofield PR; Kril J, 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
Kwok JB; Hallupp M; Loy CT; Chan DK; Woo J; Mellick GD; Buchanan D; 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
Panegyres P; Kwok JB; Schofield PR; Blumbergs P, 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
Loy CT; Kwok JB; Blair I; 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=891bb5ab6ba270e68a
Carter T; Verdile G; Groth DM; Bogush A; Thomas S; Shen P; Fraser PE; Matthews P; Nixon R; Ehrlich M; Kwok JB; George-Hyslop P; Schofield PR; Li Y; Yang A; Martins RN; Gandy SE, 2004, 'Alzheimer amyloid precursor aspartyl proteinase activity in CHAPSO homogenates of Spodoptera frugiperda cells', Alzheimer Disease and Associated Disorders, vol. 18, pp. 261 - 263
Shepherd CE; Gregory GC; Vickers J; Brooks WS; Kwok J; Schofield PR; Kril J; 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
Piguet O; Brooks WS; Halliday GM; Schofield PR; Stanford PM; Kwok JB; Spillantini M; Yancopoulou D; Nestor PJ; Broe G; Hodges JR, 2004, 'Similar early clinical presentations in familial and non-familial frontotemporal dementia', Journal of Neurosurgery, vol. 75, pp. 1743 - 1745, http://dx.doi.org/10.1136/jnnp.2003.031948
Stanford PM; Brooks WS; Teber E; Hallupp M; McLean CA; Halliday GM; Martins RN; Kwok JB; 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
Kwok J; Teber E; Loy C; Hallupp M; Nicholson GA; Mellick GD; Buchanan DD; Silburn PA; Schofield PR, 2004, 'Tau haplotypes regulate transcription and are associated withParkinson`s disease', Annals of Neurology, vol. 55, pp. 329 - 334, http://dx.doi.org/10.1002/ana.10826
Verdile G; Groth D; Matthews PM; George-Hyslop P; Fraser PE; Ramabhadran T; Kwok JB; Schofield PR; Carter T; Gandy S; Martins RN, 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
Brooks WS; Kwok JB; Halliday GM; Godbolt AK; Rossor MN; Creasey H; Jones A; 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
Badenhop RF; Moses MJ; Scimone A; Adams LJ; Kwok JB; Jones A; Davison G; Evans MR; Kirkby KC; Hewitt JE; Donald JA; Mitchell PB; Schofield PR, 2003, 'Genetic refinement and physical mapping of a 2.3mb probable disease region associated with bipolar affective disorder susceptibility locus on chromosome 4q35', American Journal of Medical Genetics Part A, vol. 117B, pp. 23 - 32
Kwok JB; Halliday GM; Brooks WS; Dolios G; Laudon H; Murayama O; Hallupp M; Vickers J; Wang R; Naslund J; Takashima A; Gandy SE; Badenhop RF; Schofield PR, 2003, 'Presenilin-1 mutation L271V results in altered exon 8 splicing and Alzheimer's disease with non-cored plaques and no neuritic dystrophy', The Journal of Biological Chemistry, vol. 278, pp. 6748 - 6754, http://dx.doi.org/10.1074/jbc.M211827200
Stanford PM; Shepherd CE; Halliday GM; Brooks WS; 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
Brooks WS; Kwok JB; Kril J; Broe T; Blumbergs P; Tannenberg T; Lamont P; 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
Kwok JBJ; Kapoor R; Gotoda T; Iwamoto Y; Iizuka Y; Yamada N; Isaacs KE; Kushwaha VV; Bret Church W; Schofield PR; Kapoor V, 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
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, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000177465301145&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
Munch G; Shepherd CE; Mccann H; Brooks WS; Kwok JB; Arendt T; Hallupp M; Schofield PR; Martins RN; Halliday GM, 2002, 'Intraneuronal advanced glycation endproducts in presenilin-l Alzheimer's disease', Neuroreport, vol. 13, pp. 601 - 604
Brodaty H; Mitchell PB; Luscombe GM; Kwok JB; McKenzie R; Schofield PR; Badenhop RF, 2002, 'Familial idiopathic basal ganglia calcification (Fahr`s disease) without neurological, cognitive and psychiatric symptoms is not linked mto the IBGC1 locus on chromosome 14q', Human Genetics, vol. 110, pp. 8 - 14, http://dx.doi.org/10.1007/s00439-001-0650-x
Rees MI; Lewis TM; Kwok JB; 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, http://dx.doi.org/10.1093/hmg/11.7.853
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, http://dx.doi.org/10.1136/jmg.38.6.e17
Kwok JB; Mclean C; Kril J; Broe T; Nicholson GA; Cappai R; Hallupp M; Cotton R; Schofield PR; Brooks WS; Smith MJ, 2001, 'Variable phenotypes 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
Stanford PM; Halliday GM; Brooks WS; Kwok JB; 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=891bb5ab6ba270e68a
Wszolek ZK; Tsuboi Y; Uitti RJ; Reed L; Hutton ML; Dickson DW, 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
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 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 JB; Storey CE; Creasey H; Morris J; 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
Kwok JB; Adams LM; Salmon J; 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 Part A, 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
Laws SM; Taddei K; Fisher C; Small D; Clarnette R; Hallmayer J; Brooks WS; Kwok JB; Schofield PR; Gandy SE; Martins RN, 1999, 'Evidence that the butyrylcholinesterase K variant can protect against late-onset Alzheimer`s disease', Alzheimers Reports, vol. 2, pp. 219 - 223
Verdile G; Fraser PE; St George-Hyslop PH; Kwok JB; Schofield PR; Fisher C; Helmerhorst E; Martins RN, 1999, 'Decreased secretion of amyloid precursor protein in Chinese hamster ovary cells overexpressing presenilin 1', Alzheimers Reports, vol. 2, pp. 231 - 239
Taddei K; Kwok JB; Kril J; Halliday GM; Creasey H; Hallupp M; Fisher C; Brooks WS; Chung C; Andrews C; Masters C; Schofield PR; Martins RN, 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
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, vol. 74, pp. 304 - 310, http://dx.doi.org/10.1002/(SICI)1096-8628(19970531)74:3<304::AID-AJMG12>3.0.CO;2-S
Kwok JB; Taddei K; Hallupp M; Fisher C; Brooks WS; Broe T; Hardy J; Fulham MJ; Nicholson GA; Stell R; St George-Hyslop PH; Fraser PE; Kakulas B; Clarnette R; Relkin N; Gandy SE; Schofield PR; Martins RN, 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
Baker MA; Kwok JB; Kucera S; Crook R; Farrer M; Houlden H; Isaacs A; Lincoln S; Onstead L; Hardy J; Wittenberg L; Dodd P; Webb SJ; Hayward N; Tannenberg T; Andreadis A; Hallupp M; Schofield PR; Dark F; Hutton M, 1997, 'Localisation of fronto-temporal 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
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
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; Eng C; Healey CS; Clayton D; Kwok JBJ; Gardner E; Ponder MA; Frilling A; Jackson CE; Lehnert H; Neumann HPH; Thibodeau SN; Ponder BAJ, 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
Mulligan LM; Kwok JBJ; Healey CS; Elsdon MJ; Eng C; Gardner E; Love DR; Mole SE; Moore JK; Papi L; Ponder MA; Telenius H; Tunnacliffe A; Ponder BAJ, 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
Conference Papers
van Langenhove T; Piguet O; Burrell J; Leyton C; Foxe D; Abela M; Bartley L; Kim W; Jary E; Huang Y; Dobson-Stone C; Kwok J; Halliday G; Hodges JR, 2017, 'Predicting development of amyotrophic lateral sclerosis in frontotemporal dementia', in EUROPEAN JOURNAL OF NEUROLOGY, WILEY, NETHERLANDS, Amsterdam, pp. 104 - 104, presented at 3rd Congress of the European-Academy-of-Neurology, NETHERLANDS, Amsterdam, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000405530100170&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
Dobson-Stone C; Halliday GM; Schofield PR; Crouch PJ; Kwok JB, 2014, 'SIGMAR1 gene in dementia and motor neuron disease', in JOURNAL OF NEUROCHEMISTRY, WILEY-BLACKWELL, TAIWAN, Kaohsiung, pp. 12 - 12, presented at 12th Biennial Meeting of the Asian-Pacific-Society-for-Neurochemistry, TAIWAN, Kaohsiung, 23 August 2014 - 26 August 2014, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000339492800021&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
Dobson-Stone C; Luty AA; Thompson EM; Blumbergs P; Brooks WS; Halliday GM; Schofield PR; Kwok JBJ, 2012, 'Identification Of A Locus For Frontotemporal Dementia - Motor Neuron Disease On Chromosome 16p12.1-q12.2', in DEMENTIA AND GERIATRIC COGNITIVE DISORDERS, KARGER, ENGLAND, Manchester, pp. 82 - 82, presented at 8th International Conference on Frontotemporal Dementias, ENGLAND, Manchester, 05 September 2012 - 07 September 2012, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000308612400120&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
Klein C; Nicholson G; Bird T; Kwok J; Wu Y; Lincoln S; Dyck P; Taner N, 2012, 'DNA-Methyltransferase1 Mutation Screening in Hereditary Sensory Neuropathy 1 (HSAN1) with Dementia and Hearing Loss, Familial Frontotemporal Dementia and Alzheimer's Disease', in NEUROLOGY, LIPPINCOTT WILLIAMS & WILKINS, LA, New Orleans, presented at 64th Annual Meeting of the American-Academy-of-Neurology (AAN), LA, New Orleans, 21 April 2012 - 28 April 2012, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000303204802002&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
Halliday GM; Warden LA; Gregory GC; Kwok JB; Schofield PR; Guillemin GJ; Shepherd CE, 2009, 'Mass buildup of soluble oligomeric Abeta40 occurs in sporadic Alzheimer's disease', in Khachaturian Z (ed.), Alzheimer's and Dementia, Elsevier, Orlando, Florida, pp. P302 - P302, presented at *, Vienna, Austria, 11 July 2009 - 16 July 2009
Schofield PR; Luty A; Kwok JB; Thompson E; Blumbergs P; Brooks WS; Loy CT; Dobson-Stone C; Panegyres P; Hecker J; Nicholson GA; Halliday GM, 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, Basel, Switzerland, pp. 9 - 9, presented at 6th International Conference on Frontotemporal Dementias, Rotterdam, Netherlands, 03 September 2008 - 05 September 2008
Huang Y; Halliday GM; Vandebona H; Mellick GD; Mastaglia F; Stevens J; Kwok JB; Garlepp M; Silburn PA; Horne MK; Kotschet K; Venn A; Rowe DB; Rubio J; Sue C, 2007, 'Prevalence of LRRK2 mutations in Australians with Parkinson`s disease', in Movement Disorders, Wiley-Liss, Hoboken, NJ, USA, pp. 83S - 83S, presented at 11th International Congress of Parkinson`s Disease and Movement Disorders, Istanbul, Turkey, 03 June 2007 - 07 June 2007
Stevens J; Huang Y; Vandenboma H; Halliday GM; Mellick GD; Mastaglia F; Kwok JB; Sue C, 2006, 'Prevalence of LRRK2 mutations in Australians with Parkinson`s disease', in Journal of Clinical Neuroscience, Churchill Livingstone, Edinburgh, Midlothian, Scotland, pp. 1009 - 1009, presented at Australian Association of Neurologists Annual Scientific Meeting 2006, Canberra, 01 May 2006 - 05 May 2006
Stevens J; Huang Y; Vandebona H; Halliday GM; Mellick GD; Mastaglia F; Kwok JB; Garlepp M; Silburn PA; Rowe DB; Sue C, 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 2006 - 03 February 2006
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, New York, NY, USA, pp. S499 - S499, presented at 9th International Conference on Alzheimer's Disease and Related Disorders, Philadelphia, Pennsylvania, 17 July 2004 - 22 July 2004, http://dx.doi.org/10.1016/S0197-4580(04)81645-2
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, New York, NY, USA, pp. S157 - S158, presented at 9th International Conference on Alzheimer`s Disease and Related Disorders, Philadelphia, Pennsylvania, 17 July 2004 - 22 July 2004, http://dx.doi.org/10.1016/S0197-4580(04)80530-X
Verdile G; Groth D; Mathews P; St George-Hyslop P; Fraser P; Ramabhadran TV; Kwok J; Schofield P; Carter T; Gandy S; Martins R, 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, PA, Philadelphia, pp. S550 - S551, presented at 9th International Conference on Alzheimers Disease and Related Disorders, PA, Philadelphia, 17 July 2004 - 22 July 2004, http://dx.doi.org/10.1016/S0197-4580(04)81823-2
Hutton M; Lendon CL; Rizzu P; Kwok JB; Schofield PR, 1998, 'Association of missense and 5`-splice-site mutations in tau with inherited dementia FTDP-17.', in Nature, England, pp. 702 - 705, presented at Nature, http://dx.doi.org/10.1038/31508
Schofield PR; Adams LJ; Kwok JB; Salmon JA; Fielder SL; Rosso D; Reid AR; Donald J; Mitchell PB, 1997, 'Identification of a novel genetic linkage with bipolar affective disorder', in American Journal of Medical Genetics Part A, Wiley-Liss, Hoboken, NJ, USA, pp. 587, presented at 5th World Congress of Psychiatric Genetics, Santa Fe, 19 October 1997 - 23 October 1997, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:A1997YB41400114&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a
Conference Abstracts
Pottier C; Serie DJ; Huey ED; Neumann M; Johannsen P; Slawek J; Finger C; Lippa CF; White CLI; Beach TG; Kwok JB; Sorbi S; Ghetti B; Mesulam MM; Bigio EH; Sanchez-valle R; Pickering-Brown S; Bruni A; Rogaeva E; Rohrer JD; Graff C; Mackenzie IR; Bird TD; Cruchaga C; van Swieten JC; Miller BL; Lopez de Munain A; Van Deerlin VM; Rossi G; Benussi L; Borroni B; Galimberti D; Ghidoni R; Le Ber I; Biernacka J; Dickson DW; Graff-Radford NR; Boeve BF; Rademakers R, 2016, 'Global initiative to identify genetic modifiers of disease onset and presentation in patients with progranulin mutations', in JOURNAL OF NEUROCHEMISTRY, WILEY-BLACKWELL, GERMANY, Munich, Vol. 138, pp. 230 - 231, presented at 10th International Conference on Frontotemporal Dementias, GERMANY, Munich, 31 August 2016 - 02 September 2016, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000382568400031&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1