J
John B.J. Kwok
Researcher at University of Sydney
Publications - 198
Citations - 18054
John B.J. Kwok is an academic researcher from University of Sydney. The author has contributed to research in topics: Frontotemporal dementia & Genome-wide association study. The author has an hindex of 51, co-authored 184 publications receiving 15117 citations. Previous affiliations of John B.J. Kwok include Mayo Clinic & University of Cambridge.
Papers
More filters
Journal ArticleDOI
Frontotemporal dementia and its subtypes: a genome-wide association study
Raffaele Ferrari,Raffaele Ferrari,Dena G. Hernandez,Dena G. Hernandez,Mike A. Nalls,Jonathan D. Rohrer,Adaikalavan Ramasamy,Adaikalavan Ramasamy,John B.J. Kwok,John B.J. Kwok,Carol Dobson-Stone,Carol Dobson-Stone,William S. Brooks,William S. Brooks,Peter R. Schofield,Peter R. Schofield,Glenda M. Halliday,Glenda M. Halliday,John R. Hodges,John R. Hodges,Olivier Piguet,Olivier Piguet,Lauren Bartley,Elizabeth Thompson,Elizabeth Thompson,Eric Haan,Eric Haan,Isabel Hernández,Agustín Ruiz,Mercè Boada,Barbara Borroni,Alessandro Padovani,Carlos Cruchaga,Nigel J. Cairns,Luisa Benussi,Giuliano Binetti,Roberta Ghidoni,Gianluigi Forloni,Daniela Galimberti,Chiara Fenoglio,Maria Serpente,Elio Scarpini,Jordi Clarimón,Alberto Lleó,Rafael Blesa,Maria Landqvist Waldö,Karin Nilsson,Christer Nilsson,Ian R. A. Mackenzie,Ging-Yuek Robin Hsiung,David M. A. Mann,Jordan Grafman,Jordan Grafman,Jordan Grafman,Christopher Morris,Johannes Attems,Timothy D. Griffiths,Ian G. McKeith,Alan J. Thomas,Pietro Pietrini,Edward D. Huey,Eric M. Wassermann,Atik Baborie,Evelyn Jaros,Evelyn Jaros,Michael Tierney,Pau Pastor,Cristina Razquin,Sara Ortega-Cubero,Elena Alonso,Robert Perneczky,Robert Perneczky,Janine Diehl-Schmid,Panagiotis Alexopoulos,Alexander Kurz,Innocenzo Rainero,Elisa Rubino,Lorenzo Pinessi,Ekaterina Rogaeva,Peter St George-Hyslop,Peter St George-Hyslop,Giacomina Rossi,Fabrizio Tagliavini,Giorgio Giaccone,James B. Rowe,James B. Rowe,Johannes C. M. Schlachetzki,Johannes C. M. Schlachetzki,James Uphill,John Collinge,Simon Mead,Adrian Danek,Adrian Danek,Vivianna M. Van Deerlin,Murray Grossman,John Q. Trojanowski,Julie van der Zee,William Deschamps,Tim Van Langenhove,Marc Cruts,Christine Van Broeckhoven,Stefano F. Cappa,Isabelle Le Ber,Didier Hannequin,Véronique Golfier,Martine Vercelletto,Alexis Brice,Benedetta Nacmias,Sandro Sorbi,Silvia Bagnoli,Irene Piaceri,Jørgen E. Nielsen,Jørgen E. Nielsen,Lena E. Hjermind,Lena E. Hjermind,Matthias Riemenschneider,Manuel Mayhaus,Bernd Ibach,Gilles Gasparoni,Sabrina Pichler,Wei Gu,Wei Gu,Martin N. Rossor,Nick C. Fox,Jason D. Warren,Maria Grazia Spillantini,Huw R. Morris,Patrizia Rizzu,Peter Heutink,Julie S. Snowden,Sara Rollinson,Anna Richardson,Alexander Gerhard,Amalia C. Bruni,Raffaele Maletta,Francesca Frangipane,Chiara Cupidi,Livia Bernardi,Maria Anfossi,Maura Gallo,Maria Elena Conidi,Nicoletta Smirne,Rosa Rademakers,Matthew C. Baker,Dennis W. Dickson,Neill R. Graff-Radford,Ronald C. Petersen,David S. Knopman,Keith A. Josephs,Bradley F. Boeve,Joseph E. Parisi,William W. Seeley,Bruce L. Miller,Anna Karydas,Howard J. Rosen,John C. van Swieten,John C. van Swieten,Elise G.P. Dopper,Harro Seelaar,Yolande A.L. Pijnenburg,Philip Scheltens,Giancarlo Logroscino,Rosa Capozzo,Valeria Novelli,Annibale Alessandro Puca,Massimo Franceschi,Alfredo Postiglione,Graziella Milan,Paolo Sorrentino,Mark Kristiansen,Huei-Hsin Chiang,Caroline Graff,Florence Pasquier,Adeline Rollin,Vincent Deramecourt,Florence Lebert,Dimitrios Kapogiannis,Luigi Ferrucci,Stuart Pickering-Brown,Andrew B. Singleton,John Hardy,Parastoo Momeni +181 more
TL;DR: The findings suggest that immune system processes (link to 6p21.3) and possibly lysosomal and autophagy pathways ( link to 11q14) are potentially involved in FTD.
Journal ArticleDOI
Novel genetic loci associated with hippocampal volume
Derrek P. Hibar,Hieab H.H. Adams,Neda Jahanshad,Ganesh Chauhan,Jason L. Stein,Jason L. Stein,Edith Hofer,Miguel E. Rentería,Joshua C. Bis,Alejandro Arias-Vasquez,M. Kamran Ikram,Sylvane Desrivières,Meike W. Vernooij,Lucija Abramovic,Saud Alhusaini,Saud Alhusaini,Najaf Amin,Micael Andersson,Konstantinos Arfanakis,Konstantinos Arfanakis,Benjamin S. Aribisala,Benjamin S. Aribisala,Nicola J. Armstrong,Nicola J. Armstrong,Lavinia Athanasiu,Tomas Axelsson,Ashley Beecham,Alexa S. Beiser,Alexa S. Beiser,Manon Bernard,Susan H. Blanton,Marc M. Bohlken,Marco P. Boks,Janita Bralten,Adam M. Brickman,Owen Carmichael,M. Mallar Chakravarty,M. Mallar Chakravarty,Qiang Chen,Christopher R.K. Ching,Christopher R.K. Ching,Vincent Chouraki,Vincent Chouraki,Vincent Chouraki,Gabriel Cuellar-Partida,Fabrice Crivello,Anouk den Braber,Nhat Trung Doan,Stefan Ehrlich,Stefan Ehrlich,Sudheer Giddaluru,Aaron Goldman,Rebecca F. Gottesman,Oliver Grimm,Michael Griswold,Tulio Guadalupe,Boris A. Gutman,Johanna Hass,Unn K. Haukvik,D. Hoehn,Avram J. Holmes,Avram J. Holmes,Martine Hoogman,Deborah Janowitz,Tianye Jia,Kjetil Nordbø Jørgensen,Nazanin Karbalai,Dalia Kasperaviciute,Dalia Kasperaviciute,Sungeun Kim,Marieke Klein,Bernd Kraemer,Phil Lee,Phil Lee,David C. Liewald,Lorna M. Lopez,Michelle Luciano,Christine Macare,Andre F. Marquand,Mar Matarin,Mar Matarin,Karen A. Mather,Manuel Mattheisen,Manuel Mattheisen,David R. McKay,Yuri Milaneschi,Susana Muñoz Maniega,Kwangsik Nho,Allison C. Nugent,Paul A. Nyquist,Loes M. Olde Loohuis,Jaap Oosterlaan,Martina Papmeyer,Martina Papmeyer,Lukas Pirpamer,Benno Pütz,Adaikalavan Ramasamy,Adaikalavan Ramasamy,Adaikalavan Ramasamy,Jennifer S. Richards,Shannon L. Risacher,Roberto Roiz-Santiañez,Nanda Rommelse,Stefan Ropele,Emma J. Rose,Natalie A. Royle,Tatjana Rundek,Philipp G. Sämann,Arvin Saremi,Claudia L. Satizabal,Claudia L. Satizabal,Lianne Schmaal,Lianne Schmaal,Andrew J. Schork,Li Shen,Jean Shin,Elena Shumskaya,Albert V. Smith,Emma Sprooten,Emma Sprooten,Lachlan T. Strike,Lachlan T. Strike,Alexander Teumer,Diana Tordesillas-Gutiérrez,Roberto Toro,Daniah Trabzuni,Daniah Trabzuni,Stella Trompet,Dhananjay Vaidya,Jeroen van der Grond,Sven J. van der Lee,Dennis van der Meer,Marjolein M.J. van Donkelaar,Kristel R. van Eijk,Theo G.M. van Erp,Daan van Rooij,Daan van Rooij,Esther Walton,Esther Walton,Lars T. Westlye,Lars T. Westlye,Christopher D. Whelan,Christopher D. Whelan,Beverly G. Windham,Anderson M. Winkler,Anderson M. Winkler,Katharina Wittfeld,Katharina Wittfeld,Girma Woldehawariat,Christiane Wolf,Thomas Wolfers,Lisa R. Yanek,Jingyun Yang,Jingyun Yang,Alex P. Zijdenbos,Marcel P. Zwiers,Ingrid Agartz,Ingrid Agartz,Laura Almasy,Laura Almasy,Laura Almasy,D. Ames,D. Ames,Philippe Amouyel,Ole A. Andreassen,Sampath Arepalli,Amelia A. Assareh,Sandra Barral,Mark E. Bastin,Diane M. Becker,James T. Becker,David A. Bennett,David A. Bennett,John Blangero,Hans van Bokhoven,Dorret I. Boomsma,Henry Brodaty,Henry Brodaty,Rachel M. Brouwer,Han G. Brunner,Han G. Brunner,Randy L. Buckner,Randy L. Buckner,Jan K. Buitelaar,Kazima B. Bulayeva,Wiepke Cahn,Vince D. Calhoun,Dara M. Cannon,Dara M. Cannon,Gianpiero L. Cavalleri,Ching-Yu Cheng,Ching-Yu Cheng,Ching-Yu Cheng,Sven Cichon,Sven Cichon,Sven Cichon,M. R. Cookson,Aiden Corvin,Benedicto Crespo-Facorro,Joanne E. Curran,Michael Czisch,Anders M. Dale,Gareth E. Davies,Anton J. M. de Craen,Eco J. C. de Geus,Philip L. De Jager,Philip L. De Jager,Philip L. De Jager,Greig I. de Zubicaray,Ian J. Deary,Stéphanie Debette,Stéphanie Debette,Stéphanie Debette,Charles C. DeCarli,Norman Delanty,Norman Delanty,Chantal Depondt,Anita L. DeStefano,Anita L. DeStefano,Allissa Dillman,Srdjan Djurovic,Srdjan Djurovic,G. Donohoe,G. Donohoe,Wayne C. Drevets,Wayne C. Drevets,Ravi Duggirala,Thomas D. Dyer,Christian Enzinger,Susanne Erk,Thomas Espeseth,Thomas Espeseth,Iryna O. Fedko,Guillén Fernández,Luigi Ferrucci,Simon E. Fisher,Simon E. Fisher,Debra A. Fleischman,Debra A. Fleischman,Ian Ford,Myriam Fornage,Tatiana Foroud,Tatiana Foroud,Peter T. Fox,Clyde Francks,Clyde Francks,Masaki Fukunaga,J. Raphael Gibbs,J. Raphael Gibbs,David C. Glahn,Randy L. Gollub,Harald H.H. Göring,Robert C. Green,Robert C. Green,Oliver Gruber,Vilmundur Gudnason,Sebastian Guelfi,Asta Håberg,Asta Håberg,Narelle K. Hansell,Narelle K. Hansell,John Hardy,Catharina A. Hartman,Ryota Hashimoto,Ryota Hashimoto,K Hegenscheid,Andreas Heinz,Stephanie Le Hellard,Dena G. Hernandez,Dena G. Hernandez,Dirk J. Heslenfeld,Beng-Choon Ho,Pieter J. Hoekstra,Wolfgang Hoffmann,Wolfgang Hoffmann,Albert Hofman,Florian Holsboer,Florian Holsboer,Georg Homuth,Norbert Hosten,Jouke-Jan Hottenga,Matthew J. Huentelman,Hilleke E. Hulshoff Pol,Masashi Ikeda,Clifford R. Jack,Mark Jenkinson,Robert Johnson,Erik G. Jönsson,Erik G. Jönsson,J. Wouter Jukema,René S. Kahn,Ryota Kanai,Ryota Kanai,Ryota Kanai,I. Kloszewska,David S. Knopman,Peter Kochunov,John B.J. Kwok,John B.J. Kwok,Stephen M. Lawrie,Herve Lemaitre,Xinmin Liu,Xinmin Liu,Dan L. Longo,Oscar L. Lopez,Simon Lovestone,Simon Lovestone,Oliver Martinez,Jean-Luc Martinot,Venkata S. Mattay,Venkata S. Mattay,C. McDonald,Andrew M. McIntosh,Francis J. McMahon,Katie L. McMahon,P. Mecocci,Ingrid Melle,Andreas Meyer-Lindenberg,Sebastian Mohnke,Grant W. Montgomery,D. Morris,Thomas H. Mosley,Thomas W. Mühleisen,Thomas W. Mühleisen,Bertram Müller-Myhsok,Bertram Müller-Myhsok,Michael A. Nalls,Matthias Nauck,Matthias Nauck,Thomas E. Nichols,Wiro J. Niessen,Wiro J. Niessen,Markus M. Nöthen,Markus M. Nöthen,Lars Nyberg,Kazutaka Ohi,Rene L. Olvera,Roel A. Ophoff,Roel A. Ophoff,Massimo Pandolfo,Tomáš Paus,Tomáš Paus,Zdenka Pausova,Zdenka Pausova,Brenda W.J.H. Penninx,G. Bruce Pike,G. Bruce Pike,Steven G. Potkin,Bruce M. Psaty,Simone Reppermund,Simone Reppermund,Marcella Rietschel,Joshua L. Roffman,Nina Romanczuk-Seiferth,Jerome I. Rotter,Mina Ryten,Mina Ryten,Ralph L. Sacco,Ralph L. Sacco,Perminder S. Sachdev,Perminder S. Sachdev,Andrew J. Saykin,Andrew J. Saykin,Reinhold Schmidt,Helena Schmidt,Peter R. Schofield,Peter R. Schofield,Sigurdur Sigursson,Andrew Simmons,Andrew Simmons,Andrew Singleton,Sanjay M. Sisodiya,Colin Smith,Jordan W. Smoller,Jordan W. Smoller,Hilkka Soininen,Hilkka Soininen,Vidar M. Steen,David J. Stott,Jessika E. Sussmann,Anbupalam Thalamuthu,Arthur W. Toga,Bryan J. Traynor,Juan C. Troncoso,Magda Tsolaki,Christophe Tzourio,Christophe Tzourio,Andre G. Uitterlinden,Andre G. Uitterlinden,Maria del C. Valdés Hernández,Marcel Van Der Brug,Aad van der Lugt,Nic J.A. van der Wee,Neeltje E.M. van Haren,Dennis van 't Ent,Marie-José van Tol,Badri N. Vardarajan,Bruno Vellas,Dick J. Veltman,Henry Völzke,Henrik Walter,Joanna M. Wardlaw,Thomas H. Wassink,Michael E. Weale,Daniel R. Weinberger,Michael Weiner,Wei Wen,Wei Wen,Eric Westman,Tonya White,Tonya White,Tien Yin Wong,Tien Yin Wong,Tien Yin Wong,Clinton B. Wright,Clinton B. Wright,Ronald H. Zielke,Alan B. Zonderman,Nicholas G. Martin,Cornelia M. van Duijn,Margaret J. Wright,Margaret J. Wright,William T. Longstreth,Gunter Schumann,Hans J. Grabe,Barbara Franke,Lenore J. Launer,Sarah E. Medland,Sudha Seshadri,Sudha Seshadri,Paul M. Thompson,M. Arfan Ikram,M. Arfan Ikram +432 more
TL;DR: It is shown that genetic variants associated with decreased hippocampal volume are also associated with increased risk for Alzheimer's disease (rg=−0.155), and these findings suggest novel biological pathways through which human genetic variation influences hippocampus volume and risk for neuropsychiatric illness.
Journal ArticleDOI
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.
Prudence M Stanford,Glenda M. Halliday,William S. Brooks,John B.J. Kwok,Catherine E. Storey,Helen Creasey,John G. Morris,Michael J. Fulham,Peter R. Schofield +8 more
TL;DR: This study provides direct molecular evidence for a functional mutation that causes progressive supranuclear palsy pathology and demonstrates that mutations in the tau gene are pleiotropic.
Journal ArticleDOI
Genetics of dementia
Clement T. Loy,Clement T. Loy,Clement T. Loy,Peter R. Schofield,Peter R. Schofield,Anne M. Turner,John B.J. Kwok,John B.J. Kwok +7 more
TL;DR: The evidence for, and the approach to, genetic testing in Alzheimer's disease (APP, PSEN1, and PSEN2 genes), frontotemporal dementia (MAPT, GRN, C9ORF72, and other genes), and other familial dementias is focused on.
Journal ArticleDOI
GSK3B polymorphisms alter transcription and splicing in Parkinson's disease
John B.J. Kwok,Marianne Hallupp,Clement T. Loy,Clement T. Loy,Daniel Kam Yin Chan,Jean Woo,George D. Mellick,Daniel D. Buchanan,Peter A. Silburn,Glenda M. Halliday,Glenda M. Halliday,Peter R. Schofield +11 more
TL;DR: Results suggest GSK3B polymorphisms alter transcription and splicing and interact with Tau haplotypes to modify disease risk in PD.