Absence/rarity of commonly reported LRRK2 mutations in Indian Parkinson's disease patients
Section snippets
Acknowledgements
Patients and controls for their valuable participation in the study; and financial assistance through grants Department of Science and Technology Grant #SP/SO/B-55/2000; Department of Biotechnology Grant #BT/PR2425/Med/13/089/2001 (RCJ, BKT, MB, UM), New Delhi, India and a senior research fellowship to SP from University Grants Commission, New Delhi are gratefully acknowledged.
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2022, Parkinsonism and Related DisordersNovel and reported variants in Parkinson's disease genes confer high disease burden among Indians
2020, Parkinsonism and Related DisordersNonmotor Signs in Genetic Forms of Parkinson's Disease
2017, International Review of NeurobiologyEarly Onset Parkinson's disease due to DJ1 mutations: An Indian study
2016, Parkinsonism and Related DisordersCitation Excerpt :PD was diagnosed using the UK Brain Bank Criteria [13] by a Movement Disorder specialist (UM in Bangalore and MB in New Delhi). PCR analysis was carried out to identify mutations in PARK2 [14], PINK1 (unpublished data), LRRK2 (G2019S, R1441C, R1441G and R1441H) [15], VPS35 and EIF4G1 [16] and were negative. Screening of familial PD patients for SNCA mutations was also negative [17].
LRRK2 mutations in Parkinson disease; a sex effect or lack thereof? A meta-analysis
2015, Parkinsonism and Related DisordersCitation Excerpt :Then, it was preformed again by separately analysing the LRRK2 p.G2019S and p.G2835R mutations. Of the 17 studies, two did not identify LRRK2 mutations among male patients and controls [10,13], and three did not identify mutations among female patients and controls (Table 1) [12,19,24], therefore these studies were excluded from the meta-analysis for men and women, respectively. In order to avoid potential bias of population specific effects on the meta-analysis, we further analyzed only studies that identified mutation carriers in both men and women.