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List of works by John B Kwok

A Western Australian kindred with Dutch cerebral amyloid angiopathy.

scientific article

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

scientific article published on 26 July 2002

A mutation in codon 717 of the amyloid precursor protein gene in an Australian family with Alzheimer's disease.

scientific article published in October 1995

A role for transcription factor GTF2IRD2 in executive function in Williams-Beuren syndrome.

scientific article

Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study

scientific article published on 03 December 2019

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

scientific article published in January 2014

Aging, exceptional longevity and comparisons of the Hannum and Horvath epigenetic clocks

scientific article published on 4 May 2017

Alzheimer amyloid precursor aspartyl proteinase activity in CHAPSO homogenates of Spodoptera frugiperda cells.

scientific article

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

scientific article published in April 2003

Assessment of amyloid β in pathologically confirmed frontotemporal dementia syndromes.

scientific article

Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region With Cortical and Subcortical Morphology and Cognition

scientific article published on 30 October 2019

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

scientific article published in January 2014

Author Correction: Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function ⬇️

scientific article published on 01 May 2019

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.

scientific article published on June 2004

C9ORF72 repeat expansion in clinical and neuropathologic frontotemporal dementia cohorts.

scientific article

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

scientific article published on 15 April 2016

CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosis

scientific article published on 01 March 2020

Cerebellar integrity in the amyotrophic lateral sclerosis-frontotemporal dementia continuum

scientific article

Cerebral small vessel disease genomics and its implications across the lifespan

scientific article published on 08 December 2020

Clinical and Biological Correlates of White Matter Hyperintensities in Patients With Behavioral-Variant Frontotemporal Dementia and Alzheimer Disease

scientific article published on 30 March 2021

Clinical heterogeneity of the C9orf72 genetic mutation in frontotemporal dementia

scientific article published on 20 August 2014

Coexisting Lewy body disease and clinical parkinsonism in frontotemporal lobar degeneration

scientific article published on 24 April 2019

Common Genetic Variation Indicates Separate Causes for Periventricular and Deep White Matter Hyperintensities

scientific article published on 10 June 2020

Common genetic variants influence human subcortical brain structures

scientific article

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

scientific article

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

scientific article

Correction: Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia

scientific article published on 01 March 2020

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

scientific article

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

scientific article

DNMT1 mutation hot spot causes varied phenotypes of HSAN1 with dementia and hearing loss.

scientific article published on 30 January 2013

Divergent Network Patterns of Amyloid-β Deposition in Logopenic and Amnestic Alzheimer's Disease Presentations

scientific article published on 14 October 2015

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

scientific article published on 10 July 2015

Elevated plasma ferritin in elderly individuals with high neocortical amyloid-β load.

scientific article published on 11 July 2017

Endogenous progesterone levels and frontotemporal dementia: modulation of TDP-43 and Tau levels in vitro and treatment of the A315T TARDBP mouse model.

scientific article published on 20 June 2013

Epigenome-wide meta-analysis of blood DNA methylation and its association with subcortical volumes: findings from the ENIGMA Epigenetics Working Group

Epigenome-wide meta-analysis of blood DNA methylation and its association with subcortical volumes: findings from the ENIGMA Epigenetics Working Group

scientific article published on 06 December 2019

Exclusion of Linkage Between Bipolar Affective Disorder and Chromosome 16 in 12 Australian Pedigrees

article

Familial idiopathic basal ganglia calcification (Fahr's disease) without neurological, cognitive and psychiatric symptoms is not linked to the IBGC1 locus on chromosome 14q.

scientific article

Finding MAPT Mutations in Frontotemporal Dementia and Other Tauopathies

scientific article

Frequency of tau mutations in familial and sporadic frontotemporal dementia and other tauopathies

scientific article published on 01 September 2004

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

scientific article

Frontotemporal dementia-amyotrophic lateral sclerosis syndrome locus on chromosome 16p12.1-q12.2: genetic, clinical and neuropathological analysis

scientific article published on 22 January 2013

GSK3B and MAPT polymorphisms are associated with grey matter and intracranial volume in healthy individuals

scientific article (publication date: 2013)

GSK3B polymorphisms alter transcription and splicing in Parkinson's disease

scientific journal article

Genetic Architecture of Subcortical Brain Structures in Over 40,000 Individuals Worldwide

scholarly article published 28 August 2017

Genetic Determinants of Cortical Structure (Thickness, Surface Area and Volumes) among Disease Free Adults in the CHARGE Consortium

article published in 2018

Genetic and environmental determinants of variation in the plasma lipidome of older Australian twins

scientific article published on 22 July 2020

Genetic and environmental determinants of variation in the plasma lipidome of older Australian twins

preprint

Genetic and immunopathological analysis of CHCHD10 in Australian amyotrophic lateral sclerosis and frontotemporal dementia and transgenic TDP-43 mice

scientific article published on 05 November 2019

Genetic and lifestyle risk factors for MRI-defined brain infarcts in a population-based setting

Genetic architecture of subcortical brain structures in 38,851 individuals

scientific article published on 21 October 2019

Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53949).

scientific article

Genetic correlations and genome-wide associations of cortical structure in general population samples of 22,824 adults

scientific article published on 22 September 2020

Genetic polymorphisms in sigma-1 receptor and apolipoprotein E interact to influence the severity of Alzheimer's disease

scientific article

Genetic refinement and physical mapping of a 2.3 Mb probable disease region associated with a bipolar affective disorder susceptibility locus on chromosome 4q35

scientific article published on 01 February 2003

Genetics of dementia

scientific article published in The Lancet

Genetics of hand grip strength in mid to late life

scientific article

Genetics of microstructure of the corpus callosum in older adults

scientific article

Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD

scientific article published on 09 February 2019

Genome-wide association study of 23,500 individuals identifies 7 loci associated with brain ventricular volume

scientific article published in Nature Communications

Genome-wide significant results identified for plasma apolipoprotein H levels in middle-aged and older adults

scientific article published on 31 March 2016

Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A.

scientific article

Haplotype analysis of MEN 2 mutations

scientific article published on 01 October 1994

Hemorrhage is uncommon in new Alzheimer family with Flemish amyloid precursor protein mutation

scientific article published in November 2004

Heritability in frontotemporal dementia: more missing pieces?

scientific article published on 26 August 2014

Heritability in frontotemporal tauopathies

Improved precision of epigenetic clock estimates across tissues and its implication for biological ageing

scientific article published on 23 August 2019

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.

scientific article published on July 1991

Intradural spinal metastasis from renal cell carcinoma: A case report

scientific article published on 01 December 2001

Intrafamilial Phenotypic Variability in the Gene Expansion: 2 Case Studies

article

Investigating the genetics of hippocampal volume in older adults without dementia

scientific article

Investigating the influence of KIBRA and CLSTN2 genetic polymorphisms on cross-sectional and longitudinal measures of memory performance and hippocampal volume in older individuals.

scientific article

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

scientific article

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

scientific article published on 23 April 2012

Localization of frontotemporal dementia with parkinsonism in an Australian kindred to chromosome 17q21-22.

scientific article published in November 1997

Low Serum Progranulin Predicts the Presence of Mutations: A Prospective Study

scientific article published on 01 January 2010

Meta-analysis of genome-wide DNA methylation identifies shared associations across neurodegenerative disorders

scientific article published on 26 March 2021

Mutations in progranulin explain atypical phenotypes with variants in MAPT.

scientific article published in November 2006

Mutations in the glycine receptor alpha1 subunit (GLRA1) gene in hereditary hyperekplexia pedigrees: evidence for non-penetrance of mutation Y279C

scientific article published in June 2001

Mutations in the tau gene that cause an increase in three repeat tau and frontotemporal dementia

scientific article published in April 2003

Neural substrates of episodic memory dysfunction in behavioural variant frontotemporal dementia with and without C9ORF72 expansions

scientific article published on 24 June 2013

Ninety-nine independent genetic loci influencing general cognitive function include genes associated with brain health and structure (N = 280,360)

No association of spastic paraparesis genes in PSEN1 Alzheimer's disease with spastic paraparesis

scientific article published in August 2007

Nonparametric simulation-based statistical analyses for bipolar affective disorder locus on chromosome 21q22.3

scientific article published on 01 February 1999

Novel Leu723Pro amyloid precursor protein mutation increases amyloid beta42(43) peptide levels and induces apoptosis

scientific article published on 01 February 2000

Novel genetic loci associated with hippocampal volume

scientific article published on 18 January 2017

Novel genetic loci underlying human intracranial volume identified through genome-wide association

scientific article (publication date: 3 October 2016)

PARK2 mutations and clinical features in a Chinese population with early-onset Parkinson's disease

scientific article

Physiologically generated presenilin 1 lacking exon 8 fails to rescue brain PS1-/- phenotype and forms complexes with wildtype PS1 and nicastrin

scientific article

Pick bodies in a family with presenilin-1 Alzheimer's disease

scientific article published in January 2005

Plasma apolipoproteins and physical and cognitive health in very old individuals.

scientific article published in March 2017

Positional cloning, association analysis and expression studies provide convergent evidence that the cadherin gene FAT contains a bipolar disorder susceptibility allele.

scientific article

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

scientific article published on 01 February 2004

Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.

scientific article

Predicting Development of Amyotrophic Lateral Sclerosis in Frontotemporal Dementia

scientific article

Presenilin-1 mutation L271V results in altered exon 8 splicing and Alzheimer's disease with non-cored plaques and no neuritic dystrophy.

scientific article

Prevalence and clinical features of common LRRK2 mutations in Australians with Parkinson's disease

scientific article published in May 2007

Progression in Behavioral Variant Frontotemporal Dementia: A Longitudinal Study

scientific article

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.

scientific article published on May 2000

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

scientific article published on 12 March 2014

Role of the Long Non-Coding RNA MAPT-AS1 in Regulation of Microtubule Associated Protein Tau (MAPT) Expression in Parkinson's Disease.

scientific article

Sigma nonopioid intracellular receptor 1 mutations cause frontotemporal lobar degeneration-motor neuron disease.

scientific article published on November 2010

Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC

article

Structural analysis of the human ret proto-oncogene using exon trapping.

scientific article published on September 1993

Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function ⬇️

scientific article published on 29 May 2018

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

scientific article

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

scientific article

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

scientific article published on 19 January 2014

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

scientific article published on March 2004

The C9orf72 hexanucleotide repeat expansion presents a challenge for testing laboratories and genetic counseling

scientific article published on 23 March 2019

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

scientific article

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

scientific article published in March 2010

The genetic architecture of the human cerebral cortex

The genetic architecture of the human cerebral cortex

scientific article

The genetics of white matter lesions

scientific article

The role of epigenetics in cognitive ageing

scientific article published on 07 August 2014

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

scientific article published on 15 February 2019

Tick tock: DNA methylation, the epigenetic clock and exceptional longevity

scientific article published on 18 November 2016

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

scientific article published in April 1997

Two novel presenilin-1 mutations (Ser169Leu and Pro436Gln) associated with very early onset Alzheimer's disease

scientific article published in October 1998

Variable phenotype of Alzheimer's disease with spastic paraparesis

scientific article published on 6 November 2007

Variable phenotype of Alzheimer's disease with spastic paraparesis

scientific article published in January 2001

Very early-onset frontotemporal dementia with no family history predicts underlying fused in sarcoma pathology

scientific article

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