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
Variable phenotype of Alzheimer’s disease with spastic paraparesis
Helena Karlström,William S. Brooks,William S. Brooks,John B.J. Kwok,John B.J. Kwok,John B.J. Kwok,G. Anthony Broe,G. Anthony Broe,Jillian J. Kril,Heather McCann,Glenda M. Halliday,Glenda M. Halliday,Peter R. Schofield,Peter R. Schofield,Peter R. Schofield +14 more
TL;DR: The SP phenotype in some PSEN1 AD pedigrees also appears to be associated with a delayed onset of dementia compared with affected individuals who present with dementia only, suggesting the existence of a protective factor in some individuals with SP.
Journal ArticleDOI
Review and meta-analysis of genetic polymorphisms associated with exceptional human longevity.
Mary Revelas,Anbupalam Thalamuthu,Christopher Oldmeadow,Tiffany-Jane Evans,Nicola J. Armstrong,John B.J. Kwok,Henry Brodaty,Peter R. Schofield,Rodney J. Scott,Perminder S. Sachdev,John Attia,Karen A. Mather +11 more
TL;DR: The observed modest effect sizes of the significant variants suggest many genes of small influence play a role in exceptional longevity, which is consistent with results for other polygenic traits.
Journal ArticleDOI
Analysis of DNA methylation associates the cystine-glutamate antiporter SLC7A11 with risk of Parkinson's disease.
Costanza L. Vallerga,Futao Zhang,Javed Fowdar,Allan F. McRae,Ting Qi,Marta F. Nabais,Marta F. Nabais,Qian Zhang,Irfahan Kassam,Anjali K. Henders,Leanne Wallace,Grant W. Montgomery,Yu-Hsuan Chuang,Steve Horvath,Beate Ritz,Glenda M. Halliday,Ian B. Hickie,John B.J. Kwok,John B.J. Kwok,John F. Pearson,Toni L. Pitcher,Martin A. Kennedy,Steven R. Bentley,Peter A. Silburn,Jian Yang,Naomi R. Wray,Simon J.G. Lewis,Tim J. Anderson,John C. Dalrymple-Alford,George D. Mellick,Peter M. Visscher,Jacob Gratten +31 more
TL;DR: It is demonstrated that cg06690548 hypermethylation in PD is associated with down-regulation of the SLC7A11 gene and show this is consistent with an environmental exposure, as opposed to medications or genetic factors with effects on DNA methylation or gene expression.
Journal ArticleDOI
Familial idiopathic basal ganglia calcification (fahr’s disease) without neurological, cognitive and psychiatric symptoms is not linked to the ibgc1 locus on chromosome 14q
Henry Brodaty,Philip B. Mitchell,Georgina Luscombe,John B.J. Kwok,Renee F. Badenhop,Rod Mckenzie,Peter R. Schofield +6 more
TL;DR: A form of IBGC in which calcification is inherited independently of neurological, cognitive and psychiatric symptoms is identified, which may represent a second locus for this disorder.
Journal ArticleDOI
Role of the Long Non-Coding RNA MAPT-AS1 in Regulation of Microtubule Associated Protein Tau (MAPT) Expression in Parkinson's Disease.
Kirsten Coupland,Woojin S. Kim,Woojin S. Kim,Glenda M. Halliday,Glenda M. Halliday,Marianne Hallupp,Carol Dobson-Stone,Carol Dobson-Stone,John B.J. Kwok,John B.J. Kwok +9 more
TL;DR: MAPT-AS1 and DNMT1 have been identified as potential epigenetic regulators of MAPT expression in PD across four different brain regions and the data suggest that increasedMAPT expression could be associated with disease state, but not with PD neuropathology severity.