Zobrazeno 1 - 10
of 118
pro vyhledávání: '"R. Pavanni"'
Publikováno v:
Scientific Reports
We examined if caffeine intake has a differential effect in subjects with high and low genetic susceptibility to Parkinson’s disease (PD), a common neurodegenerative disorder. A case control study involving 812 subjects consisting of PD and healthy
Autor:
Wing Lok Au, Louis C. Tan, Kumar M. Prakash, Y.-Y. Ng, Jianjun Liu, H.-K. Kwok, Yi Zhao, Tatsushi Toda, Eng-King Tan, R. Pavanni, Wataru Satake, W.-T. Zhao
Publikováno v:
Neurology. 75:508-512
Objective: A genome-wide association study (GWAS) in the Japanese population identified 2 new Parkinson disease (PD) susceptibility loci on 1q32 (PARK16) (OMIM 613164) and BST1. We analyzed single nucleotide polymorphism (SNPs) located at the GWAS-li
The LRRK2 Gly2385Arg variant is associated with Parkinson's disease: genetic and functional evidence
Autor:
L. Sun, R. Pavanni, Eng-King Tan, Chin Song Lu, Jianjun Liu, Prasanna R. Kolatkar, Lisa Skipper, Yih Yuen, E. Chua, Vincenzo Bonifati, Yi Zhao, Meng-Cheong Wong, M. G. Tan, S. Tang, Louis C. Tan, Stephanie Fook-Chong, A. Di Fonzo
Publikováno v:
Human Genetics, 120(6), 857-863. Springer-Verlag
Evidence of LRRK2 haplotypes associated with Parkinson's disease (PD) risk was recently found in the Chinese population from Singapore, and a common LRRK2 missense variant, Gly2385Arg, was independently detected as a putative risk factor for PD in th
Autor:
R. Pavanni, Louis C.S. Tan, Kumar M. Prakash, Murni Tio, Eng-King Tan, Wing Lok Au, Kandiah Nagaendran, Ebonne Yulin Ng, Zhi Dong Zhou, Yin Xia Chao, Mei Sian Chong, Huihua Li, Y. Zhao, Yuen Yih
Publikováno v:
Parkinson's Disease, Vol 2015 (2015)
Parkinson's Disease
Parkinson's Disease
Objective. COQ2 mutations have been reported in Japanese multiple system atrophy (MSA) patients. We examined the role of COQ2 in patients with dementia and essential tremor (ET), two common neurodegenerative conditions.Materials & Methods. A total of
Autor:
S.H. Lim, Yih Yuen, S.W. Lim, R. Pavanni, E. Chua, Meng Cheong Wong, Yi Zhao, I.S. Ng, K. Y. Puong, Eng-King Tan, C.S. Yoon, H.Y. Law
Publikováno v:
Neuroscience Letters. 403:11-14
Recent reports of SCA2 and SCA3 patients who presented with levodopa responsive parkinsonism have generated considerable interest as they have implications for genetic testing. It is unclear whether ethnic race alone or founder effects within certain
Autor:
R. Pavanni, Carine Bonnard, Eng-King Tan, E. Chua, Jianjun Liu, Lisa Skipper, Meng-Cheong Wong, Prasanna R. Kolatkar
Publikováno v:
Movement Disorders. 21:997-1001
The pleomorphic pathology of postmortem LRRK2-positive patients and the frequent association with late-onset Parkinson's disease (LOPD) symptoms suggest that LRRK2 mutations may play a role in Parkinson's Plus disorders and LOPD. Published studies pr
Autor:
Yih Yuen, Louis C.S. Tan, Fung-Peng Woon, K. T. Moe, Deidre A De Silva, K. Puvan, Eng-King Tan, Meng-Cheong Wong, Hui Shen, Dominic Jamora, Kenneth Yew, Esther Lee, R. Pavanni, E. Chua, K. Y. Puong, Yi Zhao
Publikováno v:
Movement Disorders. 21:789-793
Pathogenic PINK1 mutations have been described in PARK6-linked Parkinson's disease (PD) patients of Asian origin. However, data on the frequency of PINK1 mutations in sporadic early-onset Parkinson's disease (EOPD) Asian patients are lacking. The obj
Autor:
Yih Yuen, Ping Wing Ng, Jean Woo, Eng-King Tan, Kenneth Yew, K. Y. Puong, Hui Shen, R. Pavanni, Daniel Kam Yin Chan, Meng-Cheong Wong, K. Puvan, Stephanie Fook-Chong, Y. Zhao
Publikováno v:
Human Genetics. 118:484-488
We provided data to show that the transcriptional activity of wildtype -258T in the parkin promoter region was significantly higher than the -258G variant in human cell lines. The transcriptional activity of wildtype -258T was significantly increased
Autor:
Yih Yuen, K. Puvan, C. Tan, Kah-Leong Lim, Hui Shen, W. P. Hu, R. Pavanni, J. M. M. Tan, Eng-King Tan, Kenneth Yew, Meng-Cheong Wong, M. C. Paterson, V. R. Chandran, Stephanie Fook-Chong, Y. Zhao
Publikováno v:
Neurogenetics. 6:179-184
Altered splicing of parkin under cellular stress could lead to changes in gene expression and altered protein activity. The causative role of parkin in sporadic Parkinson's disease (PD) is unknown. We described a parkin splice variant (SV) in the sub
Publikováno v:
International Journal of Clinical Practice. 59:511-514
Information on prescribing pattern of antiparkinsonian medications and factors influencing neurologists' choice of such drugs are important considerations in evaluating healthcare cost of Parkinson's disease (PD). We surveyed neurologists' perceived