LRRK2 c.1256C>T ;(p.A419V)

Variant ID: 12-40646786-C-T

NM_198578.3(LRRK2):c.1256C>T;(p.A419V)

This variant was identified in 48 publications

View GRCh38 version.




Publications:


Integrative proteomic characterization of adenocarcinoma of esophagogastric junction.

Nature Communications
Li, Shengli S; Yuan, Li L; Xu, Zhi-Yuan ZY; Xu, Jing-Li JL; Chen, Gui-Ping GP; Guan, Xiaoqing X; Pan, Guang-Zhao GZ; Hu, Can C; Dong, Jinyun J; Du, Yi-An YA; Yang, Li-Tao LT; Ni, Mao-Wei MW; Jiang, Rui-Bin RB; Zhu, Xiu X; Lv, Hang H; Xu, Han-Dong HD; Zhang, Sheng-Jie SJ; Qin, Jiang-Jiang JJ; Cheng, Xiang-Dong XD
Publication Date: 2023-02-11

Variant appearance in text: LRRK2: 1256C>T; A419V; rs34594498
PubMed Link: 36774361
Variant Present in the following documents:
  • 41467_2023_36462_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Human Induced Pluripotent Stem Cell Phenotyping and Preclinical Modeling of Familial Parkinson's Disease.

Genes
Kim, Jeffrey J; Daadi, Etienne W EW; Oh, Thomas T; Daadi, Elyas S ES; Daadi, Marcel M MM
Publication Date: 2022-10-25

Variant appearance in text: LRRK2: A419V
PubMed Link: 36360174
Variant Present in the following documents:
  • Main text
  • genes-13-01937.pdf
View BVdb publication page



Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology
Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W
Publication Date: 2022

Variant appearance in text: LRRK2: A419V
PubMed Link: 36072793
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
  • Table_3.xlsx, sheet 1
View BVdb publication page



Structural Insights and Development of LRRK2 Inhibitors for Parkinson's Disease in the Last Decade.

Genes
Thakur, Gunjan G; Kumar, Vikas V; Lee, Keun Woo KW; Won, Chungkil C
Publication Date: 2022-08-11

Variant appearance in text: LRRK2: A419V
PubMed Link: 36011337
Variant Present in the following documents:
  • Main text
  • genes-13-01426.pdf
View BVdb publication page



Impact of 100 LRRK2 variants linked to Parkinson's disease on kinase activity and microtubule binding.

The Biochemical Journal
Kalogeropulou, Alexia F AF; Purlyte, Elena E; Tonelli, Francesca F; Lange, Sven M SM; Wightman, Melanie M; Prescott, Alan R AR; Padmanabhan, Shalini S; Sammler, Esther E; Alessi, Dario R DR
Publication Date: 2022-09-16

Variant appearance in text: LRRK2: Ala419Val
PubMed Link: 35950872
Variant Present in the following documents:
  • Main text
  • BCJ-479-1759.pdf
  • BCJ-479-1759-s1.pdf
View BVdb publication page



Myeloproliferative neoplasm with basophilia and abnormality of platelet-derived growth factor receptor a translocation: a case report.

Blood Research
Choi, Jong Gwon JG; Cho, Do Yeun DY
Publication Date: 2022-03-31

Variant appearance in text: LRRK2: 1256C>T; A419V; rs34594498
PubMed Link: 35342043
Variant Present in the following documents:
  • br-57-1-69.pdf
View BVdb publication page



Coding and Noncoding Variation in LRRK2 and Parkinson's Disease Risk.

Movement Disorders : Official Journal Of The Movement Disorder Society
Lake, Julie J; Reed, Xylena X; Langston, Rebekah G RG; Nalls, Mike A MA; Gan-Or, Ziv Z; Cookson, Mark R MR; Singleton, Andrew B AB; Blauwendraat, Cornelis C; Leonard, Hampton L HL; ,
Publication Date: 2022-01

Variant appearance in text: LRRK2: A419V
PubMed Link: 34542912
Variant Present in the following documents:
  • Main text
  • MDS-37-95.pdf
View BVdb publication page



Genomic Markers for Essential Tremor.

Pharmaceuticals (Basel, Switzerland)
Jiménez-Jiménez, Félix Javier FJ; Alonso-Navarro, Hortensia H; García-Martín, Elena E; Álvarez, Ignacio I; Pastor, Pau P; Agúndez, José A G JAG
Publication Date: 2021-05-27

Variant appearance in text: rs34594498
PubMed Link: 34072005
Variant Present in the following documents:
  • Main text
  • pharmaceuticals-14-00516.pdf
View BVdb publication page



A glimpse of the genetics of young-onset Parkinson's disease in Central Asia.

Molecular Genetics & Genomic Medicine
Kaiyrzhanov, Rauan R; Aitkulova, Akbota A; Vandrovcova, Jana J; Murphy, David D; Zharkinbekova, Nazira N; Shashkin, Chingiz C; Akhmetzhanov, Vadim V; Kaishibayeva, Gulnaz G; Karimova, Altynay A; Myrzayev, Zhanybek Z; Murray, Malgorzata M; Khaibullin, Talgat T; Hardy, John J; Houlden, Henry H
Publication Date: 2021-06

Variant appearance in text: LRRK2: 1256C>T; Ala419Val; rs34594498
PubMed Link: 33818904
Variant Present in the following documents:
  • Main text
  • MGG3-9-e1671.pdf
View BVdb publication page



A glimpse of the genetics of young-onset Parkinson's disease in Central Asia.

Molecular Genetics & Genomic Medicine
Kaiyrzhanov, Rauan R; Aitkulova, Akbota A; Vandrovcova, Jana J; Murphy, David D; Zharkinbekova, Nazira N; Shashkin, Chingiz C; Akhmetzhanov, Vadim V; Kaishibayeva, Gulnaz G; Karimova, Altynay A; Myrzayev, Zhanybek Z; Murray, Malgorzata M; Khaibullin, Talgat T; Hardy, John J; Houlden, Henry H
Publication Date: 2021-06

Variant appearance in text: LRRK2: 1256C>T; Ala419Val; rs34594498
PubMed Link: 33818904
Variant Present in the following documents:
  • Main text
  • MGG3-9-e1671.pdf
View BVdb publication page



Is LRRK2 the missing link between inflammatory bowel disease and Parkinson's disease?

Npj Parkinson'S Disease
Herrick, Mary K MK; Tansey, Malú G MG
Publication Date: 2021-03-09

Variant appearance in text: LRRK2: A419V
PubMed Link: 33750819
Variant Present in the following documents:
  • Main text
  • 41531_2021_Article_170.pdf
View BVdb publication page



Correlation of mutational landscape and survival outcome of peripheral T-cell lymphomas.

Experimental Hematology & Oncology
Ye, Yingying Y; Ding, Ning N; Mi, Lan L; Shi, Yunfei Y; Liu, Weiping W; Song, Yuqin Y; Shu, Shaokun S; Zhu, Jun J
Publication Date: 2021-02-05

Variant appearance in text: LRRK2: 1256C>T; A419V
PubMed Link: 33546774
Variant Present in the following documents:
  • 40164_2021_200_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Genetic and Environmental Factors Influence the Pleomorphy of LRRK2 Parkinsonism.

International Journal Of Molecular Sciences
Chittoor-Vinod, Vinita G VG; Nichols, R Jeremy RJ; Schüle, Birgitt B
Publication Date: 2021-01-21

Variant appearance in text: LRRK2: 1256C>T; A419V; rs34594498
PubMed Link: 33494262
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of Targets from LRRK2 Rescue Phenotypes.

Cells
Toh, Joanne J; Chua, Ling Ling LL; Ho, Patrick P; Sandanaraj, Edwin E; Tang, Carol C; Wang, Hongyan H; Tan, Eng King EK
Publication Date: 2021-01-05

Variant appearance in text: LRRK2: A419V
PubMed Link: 33466414
Variant Present in the following documents:
  • cells-10-00076.pdf
View BVdb publication page



Profiling Non-motor Symptoms in Monogenic Parkinson's Disease.

Frontiers In Aging Neuroscience
Liu, Xinyao X; Le, Weidong W
Publication Date: 2020

Variant appearance in text: LRRK2: A419V
PubMed Link: 33192488
Variant Present in the following documents:
  • Main text
  • fnagi-12-591183.pdf
View BVdb publication page



Association of rare variants in neurodegenerative genes with familial Alzheimer's disease.

Annals Of Clinical And Translational Neurology
Zhang, Weiwei W; Jiao, Bin B; Xiao, Tingting T; Liu, Xixi X; Liao, Xinxin X; Xiao, Xuewen X; Guo, Lina L; Yuan, Zhenhua Z; Yan, Xinxiang X; Tang, Beisha B; Shen, Lu L
Publication Date: 2020-10

Variant appearance in text: LRRK2: 1256C>T; A419V
PubMed Link: 32941707
Variant Present in the following documents:
  • ACN3-7-1985-s003.xlsx, sheet 1
View BVdb publication page



Analysis of rare variants of autosomal-dominant genes in a Chinese population with sporadic Parkinson's disease.

Molecular Genetics & Genomic Medicine
Zheng, Ran R; Jin, Chong-Yao CY; Chen, Ying Y; Ruan, Yang Y; Gao, Ting T; Lin, Zhi-Hao ZH; Dong, Jia-Xian JX; Yan, Ya-Ping YP; Tian, Jun J; Pu, Jia-Li JL; Zhang, Bao-Rong BR
Publication Date: 2020-10

Variant appearance in text: LRRK2: Ala419Val; rs34594498
PubMed Link: 32794657
Variant Present in the following documents:
  • Main text
  • MGG3-8-e1449.pdf
View BVdb publication page



Long-Term Outcomes of Genetic Parkinson's Disease.

Journal Of Movement Disorders
Aasly, Jan O JO
Publication Date: 2020-05

Variant appearance in text: LRRK2: A419V
PubMed Link: 32498494
Variant Present in the following documents:
  • Main text
  • jmd-19080.pdf
View BVdb publication page



LRRK2 Mutations and Asian Disease-Associated Variants in the First Parkinson's Disease Cohort from Kazakhstan.

Parkinson'S Disease
Kaiyrzhanov, Rauan R; Aitkulova, Akbota A; Shashkin, Chingiz C; Zharkinbekova, Nazira N; Rizig, Mie M; Zholdybayeva, Elena E; Jarmukhanov, Zharkyn Z; Akhmetzhanov, Vadim V; Kaishibayeva, Gulnaz G; Khaibullin, Talgat T; Karimova, Altynay A; Akshulakov, Serik S; Bralov, Askhat A; Kissamedenov, Nurlan N; Seidinova, Zhanar Z; Taskinbayeva, Anjela A; Muratbaikyzy, Aliya A; Houlden, Henry H
Publication Date: 2020

Variant appearance in text: LRRK2: 1256C>T; Ala419Val; rs34594498
PubMed Link: 32148752
Variant Present in the following documents:
  • Main text
  • PD2020-2763838.pdf
View BVdb publication page



Translational Informatics for Parkinson's Disease: from Big Biomedical Data to Small Actionable Alterations.

Genomics, Proteomics & Bioinformatics
Shen, Bairong B; Lin, Yuxin Y; Bi, Cheng C; Zhou, Shengrong S; Bai, Zhongchen Z; Zheng, Guangmin G; Zhou, Jing J
Publication Date: 2019-08

Variant appearance in text: LRRK2: A419V
PubMed Link: 31786313
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10

Variant appearance in text: LRRK2: 1256C>T; Ala419Val; rs34594498
PubMed Link: 31589614
Variant Present in the following documents:
  • pgen.1008409.s001.xlsx, sheet 1
View BVdb publication page



Parkinson's disease in China: a forty-year growing track of bedside work.

Translational Neurodegeneration
Li, Gen G; Ma, Jianfang J; Cui, Shishuang S; He, Yixi Y; Xiao, Qin Q; Liu, Jun J; Chen, Shengdi S
Publication Date: 2019

Variant appearance in text: rs34594498
PubMed Link: 31384434
Variant Present in the following documents:
  • Main text
  • 40035_2019_Article_162.pdf
View BVdb publication page



What Have We Learned from Cerebrospinal Fluid Studies about Biomarkers for Detecting LRRK2 Parkinson's Disease Patients and Healthy Subjects with Parkinson's-Associated LRRK2 Mutations?

Journal Of Parkinson'S Disease
Loeffler, David A DA; Aasly, Jan O JO; LeWitt, Peter A PA; Coffey, Mary P MP
Publication Date: 2019

Variant appearance in text: LRRK2: A419V
PubMed Link: 31322581
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic analyses of early-onset Alzheimer's disease using next generation sequencing.

Scientific Reports
Giau, Vo Van VV; Bagyinszky, Eva E; Yang, Young Soon YS; Youn, Young Chul YC; An, Seong Soo A SSA; Kim, Sang Yun SY
Publication Date: 2019-06-10

Variant appearance in text: LRRK2: 1256C>T; Ala419Val; rs34594498
PubMed Link: 31182772
Variant Present in the following documents:
  • 41598_2019_44848_MOESM1_ESM.pdf
View BVdb publication page



A Comprehensive Analysis of Population Differences in LRRK2 Variant Distribution in Parkinson's Disease.

Frontiers In Aging Neuroscience
Shu, Li L; Zhang, Yuan Y; Sun, Qiying Q; Pan, Hongxu H; Tang, Beisha B
Publication Date: 2019

Variant appearance in text: LRRK2: A419V
PubMed Link: 30760999
Variant Present in the following documents:
  • Main text
  • fnagi-11-00013.pdf
  • Data_Sheet_1.pdf
  • Data_Sheet_2.pdf
View BVdb publication page



Genetic Impact on Clinical Features in Parkinson's Disease: A Study on SNCA-rs11931074.

Parkinson'S Disease
Shu, Li L; Liang, Dongxiao D; Pan, Hongxu H; Xu, Qian Q; Guo, Jifeng J; Sun, Qiying Q; Tang, Beisha B; Yan, Xinxiang X
Publication Date: 2018

Variant appearance in text: LRRK2: A419V
PubMed Link: 30631417
Variant Present in the following documents:
  • PD2018-2754541.pdf
View BVdb publication page



Clinical Heterogeneity Among LRRK2 Variants in Parkinson's Disease: A Meta-Analysis.

Frontiers In Aging Neuroscience
Shu, Li L; Zhang, Yuan Y; Pan, Hongxu H; Xu, Qian Q; Guo, Jifeng J; Tang, Beisha B; Sun, Qiying Q
Publication Date: 2018

Variant appearance in text: LRRK2: A419V
PubMed Link: 30283330
Variant Present in the following documents:
  • Main text
  • fnagi-10-00283.pdf
View BVdb publication page



Whole-Exome Sequencing in Searching for New Variants Associated With the Development of Parkinson's Disease.

Frontiers In Aging Neuroscience
Shulskaya, Marina V MV; Alieva, Anelya Kh AK; Vlasov, Ivan N IN; Zyrin, Vladimir V VV; Fedotova, Ekaterina Yu EY; Abramycheva, Natalia Yu NY; Usenko, Tatiana S TS; Yakimovsky, Andrei F AF; Emelyanov, Anton K AK; Pchelina, Sofya N SN; Illarioshkin, Sergei N SN; Slominsky, Petr A PA; Shadrina, Maria I MI
Publication Date: 2018

Variant appearance in text: rs34594498
PubMed Link: 29867446
Variant Present in the following documents:
  • Main text
  • fnagi-10-00136.pdf
View BVdb publication page



Integrative genomic profiling of large-cell neuroendocrine carcinomas reveals distinct subtypes of high-grade neuroendocrine lung tumors.

Nature Communications
George, Julie J; Walter, Vonn V; Peifer, Martin M; Alexandrov, Ludmil B LB; Seidel, Danila D; Leenders, Frauke F; Maas, Lukas L; Müller, Christian C; Dahmen, Ilona I; Delhomme, Tiffany M TM; Ardin, Maude M; Leblay, Noemie N; Byrnes, Graham G; Sun, Ruping R; De Reynies, Aurélien A; McLeer-Florin, Anne A; Bosco, Graziella G; Malchers, Florian F; Menon, Roopika R; Altmüller, Janine J; Becker, Christian C; Nürnberg, Peter P; Achter, Viktor V; Lang, Ulrich U; Schneider, Peter M PM; Bogus, Magdalena M; Soloway, Matthew G MG; Wilkerson, Matthew D MD; Cun, Yupeng Y; McKay, James D JD; Moro-Sibilot, Denis D; Brambilla, Christian G CG; Lantuejoul, Sylvie S; Lemaitre, Nicolas N; Soltermann, Alex A; Weder, Walter W; Tischler, Verena V; Brustugun, Odd Terje OT; Lund-Iversen, Marius M; Helland, Åslaug Å; Solberg, Steinar S; Ansén, Sascha S; Wright, Gavin G; Solomon, Benjamin B; Roz, Luca L; Pastorino, Ugo U; Petersen, Iver I; Clement, Joachim H JH; Sänger, Jörg J; Wolf, Jürgen J; Vingron, Martin M; Zander, Thomas T; Perner, Sven S; Travis, William D WD; Haas, Stefan A SA; Olivier, Magali M; Foll, Matthieu M; Büttner, Reinhard R; Hayes, David Neil DN; Brambilla, Elisabeth E; Fernandez-Cuesta, Lynnette L; Thomas, Roman K RK
Publication Date: 2018-03-13

Variant appearance in text: LRRK2: 1256C>T; A419V; rs34594498
PubMed Link: 29535388
Variant Present in the following documents:
  • 41467_2018_3099_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



Novel compound heterozygous mutations of ALDH1A3 contribute to anophthalmia in a non-consanguineous Chinese family.

Genetics And Molecular Biology
Liu, Yunqiang Y; Lu, Yongjie Y; Liu, Shasha S; Liao, Shunyao S
Publication Date: 2017

Variant appearance in text: LRRK2: 1256C>T
PubMed Link: 28590501
Variant Present in the following documents:
  • 1415-4757-gmb-1678-4685-GMB-2016-0120-Suppl03.pdf
View BVdb publication page



High prevalence of TP53 mutations is associated with poor survival and an EMT signature in gliosarcoma patients.

Experimental & Molecular Medicine
Cho, Sung-Yup SY; Park, Changho C; Na, Deukchae D; Han, Jee Yun JY; Lee, Jieun J; Park, Ok-Kyoung OK; Zhang, Chengsheng C; Sung, Chang Ohk CO; Moon, Hyo Eun HE; Kim, Yona Y; Kim, Jeong Hoon JH; Kim, Jong Jae JJ; Khang, Shin Kwang SK; Nam, Do-Hyun DH; Choi, Jung Won JW; Suh, Yeon-Lim YL; Kim, Dong Gyu DG; Park, Sung Hye SH; Youn, Hyewon H; Yun, Kyuson K; Kim, Jong-Il JI; Lee, Charles C; Paek, Sun Ha SH; Park, Hansoo H
Publication Date: 2017-04-14

Variant appearance in text: LRRK2: A419V; rs34594498
PubMed Link: 28408749
Variant Present in the following documents:
  • emm20179x1.xlsx, sheet 4
View BVdb publication page



Mechanisms of Parkinson's disease-related proteins in mediating secondary brain damage after cerebral ischemia.

Journal Of Cerebral Blood Flow And Metabolism : Official Journal Of The International Society Of Cerebral Blood Flow And Metabolism
Kim, TaeHee T; Vemuganti, Raghu R
Publication Date: 2017-06

Variant appearance in text: LRRK2: A419V
PubMed Link: 28273718
Variant Present in the following documents:
  • Main text
  • 10.1177_0271678X17694186.pdf
View BVdb publication page



Association of LRRK2 R1628P variant with Parkinson's disease in Ethnic Han-Chinese and subgroup population.

Scientific Reports
Zhang, Pei P; Wang, Qingzhi Q; Jiao, Fengjuan F; Yan, Jianguo J; Chen, Lijun L; He, Feng F; Zhang, Qian Q; Tian, Bo B
Publication Date: 2016-11-04

Variant appearance in text: LRRK2: A419V
PubMed Link: 27812003
Variant Present in the following documents:
  • Main text
View BVdb publication page



Systematic analysis of genetic variants in Han Chinese patients with sporadic Parkinson's disease.

Scientific Reports
Yuan, Lamei L; Song, Zhi Z; Deng, Xiong X; Zheng, Wen W; Guo, Yi Y; Yang, Zhijian Z; Deng, Hao H
Publication Date: 2016-09-22

Variant appearance in text: rs34594498
PubMed Link: 27653456
Variant Present in the following documents:
  • Main text
  • srep33850.pdf
  • srep33850-s1.pdf
View BVdb publication page



Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications
Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD
Publication Date: 2016-07-05

Variant appearance in text: LRRK2: A419V
PubMed Link: 27377421
Variant Present in the following documents:
  • ncomms12072-s6.xlsx, sheet 1
View BVdb publication page



Genomic Landscape Survey Identifies SRSF1 as a Key Oncodriver in Small Cell Lung Cancer.

Plos Genetics
Jiang, Liyan L; Huang, Jiaqi J; Higgs, Brandon W BW; Hu, Zhibin Z; Xiao, Zhan Z; Yao, Xin X; Conley, Sarah S; Zhong, Haihong H; Liu, Zheng Z; Brohawn, Philip P; Shen, Dong D; Wu, Song S; Ge, Xiaoxiao X; Jiang, Yue Y; Zhao, Yizhuo Y; Lou, Yuqing Y; Morehouse, Chris C; Zhu, Wei W; Sebastian, Yinong Y; Czapiga, Meggan M; Oganesyan, Vaheh V; Fu, Haihua H; Niu, Yanjie Y; Zhang, Wei W; Streicher, Katie K; Tice, David D; Zhao, Heng H; Zhu, Meng M; Xu, Lin L; Herbst, Ronald R; Su, Xinying X; Gu, Yi Y; Li, Shyoung S; Huang, Lihua L; Gu, Jianren J; Han, Baohui B; Jallal, Bahija B; Shen, Hongbing H; Yao, Yihong Y
Publication Date: 2016-04

Variant appearance in text: LRRK2: A419V; rs34594498
PubMed Link: 27093186
Variant Present in the following documents:
  • pgen.1005895.s019.xlsx, sheet 1
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: PARK8: A419V; rs34594498
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: LRRK2: A419V
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 3
View BVdb publication page



Pathways to Parkinsonism Redux: convergent pathobiological mechanisms in genetics of Parkinson's disease.

Human Molecular Genetics
Kumaran, Ravindran R; Cookson, Mark R MR
Publication Date: 2015-10-15

Variant appearance in text: LRRK2: A419V
PubMed Link: 26101198
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evaluating LRRK2 genetic variants with unclear pathogenicity.

Biomed Research International
Refai, Fathima Shaffra FS; Ng, Shin Hui SH; Tan, Eng-King EK
Publication Date: 2015

Variant appearance in text: LRRK2: A419V
PubMed Link: 25821816
Variant Present in the following documents:
  • Main text
  • BMRI2015-678701.pdf
View BVdb publication page



High-Resolution Melting Analysis as a Developed Method for Genotyping the PD Susceptibility Loci in LRRK2 Gene.

Journal Of Clinical Laboratory Analysis
Jiang, Enzhu E; Li, Fengrui F; Jing, Chenchen C; Li, Pei P; Cui, Honggang H; Wang, Baojie B; Ding, Mei M; Pang, Hao H
Publication Date: 2015-07

Variant appearance in text: LRRK2: A419V
PubMed Link: 24849765
Variant Present in the following documents:
  • Main text
View BVdb publication page



Patient-control association study of the Leucine-Rich repeat kinase 2 (LRRK2) gene in South African Parkinson's disease patients.

Movement Disorders : Official Journal Of The Movement Disorder Society
Bardien, Soraya S; Blanckenberg, Janine J; van der Merwe, Lize L; Farrer, Matthew J MJ; Ross, Owen A OA
Publication Date: 2013-12

Variant appearance in text: LRRK2: A419V
PubMed Link: 24014121
Variant Present in the following documents:
  • Main text
View BVdb publication page



Protective effect of LRRK2 p.R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variants.

Neurobiology Of Aging
Heckman, Michael G MG; Elbaz, Alexis A; Soto-Ortolaza, Alexandra I AI; Serie, Daniel J DJ; Aasly, Jan O JO; Annesi, Grazia G; Auburger, Georg G; Bacon, Justin A JA; Boczarska-Jedynak, Magdalena M; Bozi, Maria M; Brighina, Laura L; Chartier-Harlin, Marie-Christine MC; Dardiotis, Efthimios E; Destée, Alain A; Ferrarese, Carlo C; Ferraris, Alessandro A; Fiske, Brian B; Gispert, Suzana S; Hadjigeorgiou, Georgios M GM; Hattori, Nobutaka N; Ioannidis, John P A JP; Jasinska-Myga, Barbara B; Jeon, Beom S BS; Kim, Yun Joong YJ; Klein, Christine C; Kruger, Rejko R; Kyratzi, Elli E; Lin, Chin-Hsien CH; Lohmann, Katja K; Loriot, Marie-Anne MA; Lynch, Timothy T; Mellick, George D GD; Mutez, Eugénie E; Opala, Grzegorz G; Park, Sung Sup SS; Petrucci, Simona S; Quattrone, Aldo A; Sharma, Manu M; Silburn, Peter A PA; Sohn, Young Ho YH; Stefanis, Leonidas L; Tadic, Vera V; Tomiyama, Hiroyuki H; Uitti, Ryan J RJ; Valente, Enza Maria EM; Vassilatis, Demetrios K DK; Vilariño-Güell, Carles C; White, Linda R LR; Wirdefeldt, Karin K; Wszolek, Zbigniew K ZK; Wu, Ruey-Meei RM; Xiromerisiou, Georgia G; Maraganore, Demetrius M DM; Farrer, Matthew J MJ; Ross, Owen A OA; ,
Publication Date: 2014-01

Variant appearance in text: LRRK2: A419V
PubMed Link: 23962496
Variant Present in the following documents:
  • Main text
View BVdb publication page



LRRK2: cause, risk, and mechanism.

Journal Of Parkinson'S Disease
Paisán-Ruiz, Coro C; Lewis, Patrick A PA; Singleton, Andrew B AB
Publication Date: 2013

Variant appearance in text: LRRK2: A419V
PubMed Link: 23938341
Variant Present in the following documents:
  • Main text
  • nihms516093.pdf
View BVdb publication page