John B J Kwok

John B J Kwok

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John B J Kwok

Publications by authors named "John B J Kwok"

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The underacknowledged PPA-ALS: A unique clinicopathologic subtype with strong heritability.

Neurology 2019 Mar 15;92(12):e1354-e1366. Epub 2019 Feb 15.

From the Brain and Mind Centre and Central Clinical School (R.H.T., B.G., C.D.-S., J.B.J.K., M.C.K., J.R.H., G.M.H.) and School of Medical Sciences (J.J.K.), Faculty of Medicine and Health, and Brain and Mind Centre and School of Psychology (O.P.), The University of Sydney; School of Medical Sciences (R.H.T., C.D.-S., G.M.H.), University of New South Wales & Neuroscience Research Australia; Department of Neurology (M.C.K.), Royal Prince Alfred Hospital; ARC Centre of Excellence in Cognition and its Disorders (J.R.H., O.P.); and Division of Neuroscience (B.G.), Garvan Institute of Medical Research and St Vincent's Clinical School, UNSW Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1212/WNL.0000000000007146DOI Listing
March 2019

Finding MAPT Mutations in Frontotemporal Dementia and Other Tauopathies.

Methods Mol Biol 2017 ;1523:307-324

Neuroscience Research Australia, Barker St., Randwick, Sydney, NSW, 2031, Australia.

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http://dx.doi.org/10.1007/978-1-4939-6598-4_19DOI Listing
January 2018

Genetic factors and epigenetic mechanisms of longevity: current perspectives.

Epigenomics 2015 7;7(8):1339-49. Epub 2015 Dec 7.

Neuroscience Research Australia, Barker Street, Randwick, Sydney, NSW 2031, Australia.

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http://dx.doi.org/10.2217/epi.15.80DOI Listing
October 2016

Effect of PSEN1 mutations on MAPT methylation in early-onset Alzheimer's disease.

Curr Alzheimer Res 2015 ;12(8):745-51

Neuroscience Research Australia, Barker St, Randwick, NSW, Australia.

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July 2016

TDP-43 in the hypoglossal nucleus identifies amyotrophic lateral sclerosis in behavioral variant frontotemporal dementia.

J Neurol Sci 2016 Jul 4;366:197-201. Epub 2016 May 4.

Neuroscience Research Australia, Sydney, Australia; School of Medical Sciences, University of New South Wales, Sydney, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2016.05.005DOI Listing
July 2016

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia.

Nat Commun 2016 Apr 15;7:11253. Epub 2016 Apr 15.

Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales 2109, Australia.

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http://dx.doi.org/10.1038/ncomms11253DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4835537PMC
April 2016

SNCA Gene, but Not MAPT, Influences Onset Age of Parkinson's Disease in Chinese and Australians.

Biomed Res Int 2015 15;2015:135674. Epub 2015 Apr 15.

Neuroscience Research Australia and The University of New South Wales, Sydney, NSW 2031, Australia.

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http://dx.doi.org/10.1155/2015/135674DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4413514PMC
February 2016

Genetics of microstructure of the corpus callosum in older adults.

PLoS One 2014 16;9(12):e113181. Epub 2014 Dec 16.

Centre for Healthy Brain Ageing, School of Psychiatry, University of New South Wales, Sydney, Australia; Neuropsychiatric Institute, The Prince of Wales Hospital, Sydney, Australia.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0113181PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4267776PMC
January 2016

Is CHCHD10 Pro34Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis?

Brain 2015 Oct 7;138(Pt 10):e385. Epub 2015 May 7.

1 Neuroscience Research Australia, Sydney, NSW, Australia 2 School of Medical Sciences, University of New South Wales, Sydney, NSW, Australia.

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http://dx.doi.org/10.1093/brain/awv115DOI Listing
October 2015

TDP-43 proteinopathies: pathological identification of brain regions differentiating clinical phenotypes.

Brain 2015 Oct 31;138(Pt 10):3110-22. Epub 2015 Jul 31.

1 Neuroscience Research Australia, Sydney, Australia 2 UNSW Medicine, University of New South Wales, Sydney, Australia

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http://dx.doi.org/10.1093/brain/awv220DOI Listing
October 2015

DNA methylation in the apolipoprotein-A1 gene is associated with episodic memory performance in healthy older individuals.

J Alzheimers Dis 2015 ;44(1):175-82

Neuroscience Research Australia, Sydney, NSW, Australia School of Medical Sciences, University of New South Wales, Sydney, NSW, Australia.

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http://dx.doi.org/10.3233/JAD-141314DOI Listing
September 2015

Concordance between direct and imputed APOE genotypes using 1000 Genomes data.

J Alzheimers Dis 2014 ;42(2):391-3

University of Newcastle and Hunter Medical Research Institute, Newcastle, Australia.

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http://dx.doi.org/10.3233/JAD-140846DOI Listing
July 2015

Age-dependent alterations of the hippocampal cell composition and proliferative potential in the hAβPPSwInd-J20 mouse.

J Alzheimers Dis 2014 ;41(4):1177-92

Neuroscience Research Australia, Sydney, NSW, Australia School of Medical Science, The University of New South Wales, Sydney, NSW, Australia.

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http://www.medra.org/servlet/aliasResolver?alias=iospress&am
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http://dx.doi.org/10.3233/JAD-132717DOI Listing
March 2015

Association of SORL1 gene variants with hippocampal and cerebral atrophy and Alzheimer's disease.

Curr Alzheimer Res 2014 ;11(6):558-63

Neuroscience Research Australia, Sydney, Australia.

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February 2015

DNA methylation of the MAPT gene in Parkinson's disease cohorts and modulation by vitamin E in vitro.

Mov Disord 2014 Nov 27;29(13):1606-14. Epub 2013 Dec 27.

Neuroscience Research Australia, Sydney, New South Wales, Australia; School of Medical Sciences, University of New South Wales, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1002/mds.25784DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4074263PMC
November 2014

Heritability in frontotemporal dementia: more missing pieces?

J Neurol 2014 Nov 26;261(11):2170-7. Epub 2014 Aug 26.

Concord Repatriation General Hospital, Sydney, Australia.

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http://dx.doi.org/10.1007/s00415-014-7474-9DOI Listing
November 2014

Renin-angiotensin system genetic polymorphisms and brain white matter lesions in older Australians.

Am J Hypertens 2014 Sep 12;27(9):1191-8. Epub 2014 Mar 12.

Centre for Healthy Brain Ageing, School of Psychiatry, University of New South Wales, Sydney, Australia; Neuropsychiatric Institute, Prince of Wales Hospital, Sydney, Australia;

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http://dx.doi.org/10.1093/ajh/hpu035DOI Listing
September 2014

Frontotemporal dementia and its subtypes: a genome-wide association study.

Authors:
Raffaele Ferrari Dena G Hernandez Michael A Nalls Jonathan D Rohrer Adaikalavan Ramasamy John B J Kwok Carol Dobson-Stone William S Brooks Peter R Schofield Glenda M Halliday John R Hodges Olivier Piguet Lauren Bartley Elizabeth Thompson 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 R Hsiung David M A Mann Jordan Grafman Christopher M Morris Johannes Attems Timothy D Griffiths Ian G McKeith Alan J Thomas P Pietrini Edward D Huey Eric M Wassermann Atik Baborie Evelyn Jaros Michael C Tierney Pau Pastor Cristina Razquin Sara Ortega-Cubero Elena Alonso Robert Perneczky Janine Diehl-Schmid Panagiotis Alexopoulos Alexander Kurz Innocenzo Rainero Elisa Rubino Lorenzo Pinessi Ekaterina Rogaeva Peter St George-Hyslop Giacomina Rossi Fabrizio Tagliavini Giorgio Giaccone James B Rowe Johannes C M Schlachetzki James Uphill John Collinge Simon Mead 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 Lena E Hjermind Matthias Riemenschneider Manuel Mayhaus Bernd Ibach Gilles Gasparoni Sabrina Pichler 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 Matt Baker Dennis W Dickson Neill R Graff-Radford Ronald C Petersen David Knopman Keith A Josephs Bradley F Boeve Joseph E Parisi William W Seeley Bruce L Miller Anna M Karydas Howard Rosen John C van Swieten Elise G P Dopper Harro Seelaar Yolande A L Pijnenburg Philip Scheltens Giancarlo Logroscino Rosa Capozzo Valeria Novelli Annibale A 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

Lancet Neurol 2014 Jul;13(7):686-99

Laboratory of Neurogenetics, Department of Internal Medicine, Texas Tech University Health Science Center, Lubbock, Texas, USA.

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http://dx.doi.org/10.1016/S1474-4422(14)70065-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4112126PMC
July 2014

The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data.

Authors:
Paul M Thompson Jason L Stein Sarah E Medland Derrek P Hibar Alejandro Arias Vasquez Miguel E Renteria Roberto Toro Neda Jahanshad Gunter Schumann Barbara Franke Margaret J Wright Nicholas G Martin Ingrid Agartz Martin Alda Saud Alhusaini Laura Almasy Jorge Almeida Kathryn Alpert Nancy C Andreasen Ole A Andreassen Liana G Apostolova Katja Appel Nicola J Armstrong Benjamin Aribisala Mark E Bastin Michael Bauer Carrie E Bearden Orjan Bergmann Elisabeth B Binder John Blangero Henry J Bockholt Erlend Bøen Catherine Bois Dorret I Boomsma Tom Booth Ian J Bowman Janita Bralten Rachel M Brouwer Han G Brunner David G Brohawn Randy L Buckner Jan Buitelaar Kazima Bulayeva Juan R Bustillo Vince D Calhoun Dara M Cannon Rita M Cantor Melanie A Carless Xavier Caseras Gianpiero L Cavalleri M Mallar Chakravarty Kiki D Chang Christopher R K Ching Andrea Christoforou Sven Cichon Vincent P Clark Patricia Conrod Giovanni Coppola Benedicto Crespo-Facorro Joanne E Curran Michael Czisch Ian J Deary Eco J C de Geus Anouk den Braber Giuseppe Delvecchio Chantal Depondt Lieuwe de Haan Greig I de Zubicaray Danai Dima Rali Dimitrova Srdjan Djurovic Hongwei Dong Gary Donohoe Ravindranath Duggirala Thomas D Dyer Stefan Ehrlich Carl Johan Ekman Torbjørn Elvsåshagen Louise Emsell Susanne Erk Thomas Espeseth Jesen Fagerness Scott Fears Iryna Fedko Guillén Fernández Simon E Fisher Tatiana Foroud Peter T Fox Clyde Francks Sophia Frangou Eva Maria Frey Thomas Frodl Vincent Frouin Hugh Garavan Sudheer Giddaluru David C Glahn Beata Godlewska Rita Z Goldstein Randy L Gollub Hans J Grabe Oliver Grimm Oliver Gruber Tulio Guadalupe Raquel E Gur Ruben C Gur Harald H H Göring Saskia Hagenaars Tomas Hajek Geoffrey B Hall Jeremy Hall John Hardy Catharina A Hartman Johanna Hass Sean N Hatton Unn K Haukvik Katrin Hegenscheid Andreas Heinz Ian B Hickie Beng-Choon Ho David Hoehn Pieter J Hoekstra Marisa Hollinshead Avram J Holmes Georg Homuth Martine Hoogman L Elliot Hong Norbert Hosten Jouke-Jan Hottenga Hilleke E Hulshoff Pol Kristy S Hwang Clifford R Jack Mark Jenkinson Caroline Johnston Erik G Jönsson René S Kahn Dalia Kasperaviciute Sinead Kelly Sungeun Kim Peter Kochunov Laura Koenders Bernd Krämer John B J Kwok Jim Lagopoulos Gonzalo Laje Mikael Landen Bennett A Landman John Lauriello Stephen M Lawrie Phil H Lee Stephanie Le Hellard Herve Lemaître Cassandra D Leonardo Chiang-Shan Li Benny Liberg David C Liewald Xinmin Liu Lorna M Lopez Eva Loth Anbarasu Lourdusamy Michelle Luciano Fabio Macciardi Marise W J Machielsen Glenda M Macqueen Ulrik F Malt René Mandl Dara S Manoach Jean-Luc Martinot Mar Matarin Karen A Mather Manuel Mattheisen Morten Mattingsdal Andreas Meyer-Lindenberg Colm McDonald Andrew M McIntosh Francis J McMahon Katie L McMahon Eva Meisenzahl Ingrid Melle Yuri Milaneschi Sebastian Mohnke Grant W Montgomery Derek W Morris Eric K Moses Bryon A Mueller Susana Muñoz Maniega Thomas W Mühleisen Bertram Müller-Myhsok Benson Mwangi Matthias Nauck Kwangsik Nho Thomas E Nichols Lars-Göran Nilsson Allison C Nugent Lars Nyberg Rene L Olvera Jaap Oosterlaan Roel A Ophoff Massimo Pandolfo Melina Papalampropoulou-Tsiridou Martina Papmeyer Tomas Paus Zdenka Pausova Godfrey D Pearlson Brenda W Penninx Charles P Peterson Andrea Pfennig Mary Phillips G Bruce Pike Jean-Baptiste Poline Steven G Potkin Benno Pütz Adaikalavan Ramasamy Jerod Rasmussen Marcella Rietschel Mark Rijpkema Shannon L Risacher Joshua L Roffman Roberto Roiz-Santiañez Nina Romanczuk-Seiferth Emma J Rose Natalie A Royle Dan Rujescu Mina Ryten Perminder S Sachdev Alireza Salami Theodore D Satterthwaite Jonathan Savitz Andrew J Saykin Cathy Scanlon Lianne Schmaal Hugo G Schnack Andrew J Schork S Charles Schulz Remmelt Schür Larry Seidman Li Shen Jody M Shoemaker Andrew Simmons Sanjay M Sisodiya Colin Smith Jordan W Smoller Jair C Soares Scott R Sponheim Emma Sprooten John M Starr Vidar M Steen Stephen Strakowski Lachlan Strike Jessika Sussmann Philipp G Sämann Alexander Teumer Arthur W Toga Diana Tordesillas-Gutierrez Daniah Trabzuni Sarah Trost Jessica Turner Martijn Van den Heuvel Nic J van der Wee Kristel van Eijk Theo G M van Erp Neeltje E M van Haren Dennis van 't Ent Marie-Jose van Tol Maria C Valdés Hernández Dick J Veltman Amelia Versace Henry Völzke Robert Walker Henrik Walter Lei Wang Joanna M Wardlaw Michael E Weale Michael W Weiner Wei Wen Lars T Westlye Heather C Whalley Christopher D Whelan Tonya White Anderson M Winkler Katharina Wittfeld Girma Woldehawariat Christiane Wolf David Zilles Marcel P Zwiers Anbupalam Thalamuthu Peter R Schofield Nelson B Freimer Natalia S Lawrence Wayne Drevets

Brain Imaging Behav 2014 Jun;8(2):153-82

Imaging Genetics Center, Institute for Neuroimaging and Informatics, Keck School of Medicine, University of Southern California, 2001 N. Soto Street, Los Angeles, CA, 90033, USA,

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http://dx.doi.org/10.1007/s11682-013-9269-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4008818PMC
June 2014

Genetics of dementia.

Lancet 2014 Mar 6;383(9919):828-40. Epub 2013 Aug 6.

Neuroscience Research Australia, Randwick, NSW, Australia; University of New South Wales, Kensington, NSW, Australia. Electronic address:

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http://dx.doi.org/10.1016/S0140-6736(13)60630-3DOI Listing
March 2014

TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions.

Acta Neuropathol 2014 Mar 19;127(3):407-18. Epub 2014 Jan 19.

Cell and Molecular Biology Graduate Group, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

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http://dx.doi.org/10.1007/s00401-013-1239-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4003885PMC
March 2014

Genetics of ageing-related changes in brain white matter integrity - a review.

Ageing Res Rev 2013 Jan 2;12(1):391-401. Epub 2012 Nov 2.

Centre for Healthy Brain Ageing, School of Psychiatry, University of New South Wales, Sydney, Australia.

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https://linkinghub.elsevier.com/retrieve/pii/S15681637120014
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http://dx.doi.org/10.1016/j.arr.2012.10.003DOI Listing
January 2013

Srp20 regulates TrkB pre-mRNA splicing to generate TrkB-Shc transcripts with implications for Alzheimer's disease.

J Neurochem 2012 Oct 16;123(1):159-71. Epub 2012 Aug 16.

Illawarra Health and Medical Research Institute, University of Wollongong, Wollongong, NSW, Australia.

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http://dx.doi.org/10.1111/j.1471-4159.2012.07873.xDOI Listing
October 2012

Leucine-rich repeat kinase 2 and alternative splicing in Parkinson's disease.

Mov Disord 2012 Jul 23;27(8):1004-11. Epub 2012 Apr 23.

Neuroscience Research Australia, Barker St., Randwick, Sydney, NSW 2031, Australia.

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http://dx.doi.org/10.1002/mds.25005DOI Listing
July 2012

The genetics of white matter lesions.

CNS Neurosci Ther 2011 Oct 7;17(5):525-40. Epub 2010 Jul 7.

Neuroscience Research Australia, Sydney, Australia.

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http://dx.doi.org/10.1111/j.1755-5949.2010.00181.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6493881PMC
October 2011

Role of epigenetics in Alzheimer's and Parkinson's disease.

Authors:
John B J Kwok

Epigenomics 2010 Oct;2(5):671-82

Neuroscience Research Australia, Randwick, NSW, Australia.

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http://dx.doi.org/10.2217/epi.10.43DOI Listing
October 2010

Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions.

Authors:
Vivianna M Van Deerlin Patrick M A Sleiman Maria Martinez-Lage Alice Chen-Plotkin Li-San Wang Neill R Graff-Radford Dennis W Dickson Rosa Rademakers Bradley F Boeve Murray Grossman Steven E Arnold David M A Mann Stuart M Pickering-Brown Harro Seelaar Peter Heutink John C van Swieten Jill R Murrell Bernardino Ghetti Salvatore Spina Jordan Grafman John Hodges Maria Grazia Spillantini Sid Gilman Andrew P Lieberman Jeffrey A Kaye Randall L Woltjer Eileen H Bigio Marsel Mesulam Safa Al-Sarraj Claire Troakes Roger N Rosenberg Charles L White Isidro Ferrer Albert Lladó Manuela Neumann Hans A Kretzschmar Christine Marie Hulette Kathleen A Welsh-Bohmer Bruce L Miller Ainhoa Alzualde Adolfo Lopez de Munain Ann C McKee Marla Gearing Allan I Levey James J Lah John Hardy Jonathan D Rohrer Tammaryn Lashley Ian R A Mackenzie Howard H Feldman Ronald L Hamilton Steven T Dekosky Julie van der Zee Samir Kumar-Singh Christine Van Broeckhoven Richard Mayeux Jean Paul G Vonsattel Juan C Troncoso Jillian J Kril John B J Kwok Glenda M Halliday Thomas D Bird Paul G Ince Pamela J Shaw Nigel J Cairns John C Morris Catriona Ann McLean Charles DeCarli William G Ellis Stefanie H Freeman Matthew P Frosch John H Growdon Daniel P Perl Mary Sano David A Bennett Julie A Schneider Thomas G Beach Eric M Reiman Bryan K Woodruff Jeffrey Cummings Harry V Vinters Carol A Miller Helena C Chui Irina Alafuzoff Päivi Hartikainen Danielle Seilhean Douglas Galasko Eliezer Masliah Carl W Cotman M Teresa Tuñón M Cristina Caballero Martínez David G Munoz Steven L Carroll Daniel Marson Peter F Riederer Nenad Bogdanovic Gerard D Schellenberg Hakon Hakonarson John Q Trojanowski Virginia M-Y Lee

Nat Genet 2010 Mar 14;42(3):234-9. Epub 2010 Feb 14.

[1] Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA. [2] These authors contributed equally to this work.

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http://dx.doi.org/10.1038/ng.536DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2828525PMC
March 2010

The case of a 48 year-old woman with bizarre and complex delusions.

Nat Rev Neurol 2010 Mar;6(3):175-9

Prince of Wales Medical Research Institute, Barker Street, Randwick, Sydney, NSW 2031, Australia.

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http://www.nature.com/articles/nrneurol.2010.3
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http://dx.doi.org/10.1038/nrneurol.2010.3DOI Listing
March 2010

Variable phenotype of Alzheimer's disease with spastic paraparesis.

J Neurochem 2008 Feb 6;104(3):573-83. Epub 2007 Nov 6.

Garvan Institute of Medical Research, Sydney, Australia, and Karolinska Institutet, Stockholm, Sweden.

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http://dx.doi.org/10.1111/j.1471-4159.2007.05038.xDOI Listing
February 2008

A Western Australian kindred with Dutch cerebral amyloid angiopathy.

J Neurol Sci 2005 Dec 5;239(1):75-80. Epub 2005 Oct 5.

Neurosciences Unit, Cnr Mooro Drive and John XXIII Ave., Mt. Claremont 6019, Perth, Western Australia, Australia.

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http://dx.doi.org/10.1016/j.jns.2005.08.002DOI Listing
December 2005

GSK3B polymorphisms alter transcription and splicing in Parkinson's disease.

Ann Neurol 2005 Dec;58(6):829-39

Garvan Institute of Medical Research, University of New South Wales, Barker Street, Randwick, Sydney NSW 2031, Australia.

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http://dx.doi.org/10.1002/ana.20691DOI Listing
December 2005

Tau haplotypes regulate transcription and are associated with Parkinson's disease.

Ann Neurol 2004 Mar;55(3):329-34

Garvan Institute of Medical Research, 384 Victoria Street, Darlinghurst, Sydney, NSW 2010, Australia.

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http://dx.doi.org/10.1002/ana.10826DOI Listing
March 2004

Positional effects of presenilin-1 mutations on tau phosphorylation in cortical plaques.

Neurobiol Dis 2004 Feb;15(1):115-9

Prince of Wales Medical Research Institute, Randwick, 2031 Sydney, Australia.

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February 2004

Alzheimer's disease with spastic paraparesis and 'cotton wool' plaques: two pedigrees with PS-1 exon 9 deletions.

Brain 2003 Apr;126(Pt 4):783-91

Centre for Education and Research on Ageing, University of Sydney and Concord Hospital, New South Wales, Australia.

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http://dx.doi.org/10.1093/brain/awg084DOI Listing
April 2003

A missense mutation in kynurenine aminotransferase-1 in spontaneously hypertensive rats.

J Biol Chem 2002 Sep 26;277(39):35779-82. Epub 2002 Jul 26.

Garvan Institute of Medical Research, Sydney, 2010 Australia.

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http://dx.doi.org/10.1074/jbc.C200303200DOI Listing
September 2002

Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB).

Hum Mol Genet 2002 Apr;11(7):853-60

Department of Psychological Medicine and Department of Medical Genetics, University of Wales College of Medicine, Cardiff CF14 4XN, UK.

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http://dx.doi.org/10.1093/hmg/11.7.853DOI Listing
April 2002