Publications:

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LRRK2 and Parkinson's disease: from genetics to targeted therapy.

Annals Of Clinical And Translational Neurology

Sosero, Yuri L YL; Gan-Or, Ziv Z

Publication Date: 2023-04-06

Variant appearance in text: LRRK2: K1423K

PubMed Link: 37021623

Variant Present in the following documents:

• Main text
• ACN3-10-850.pdf

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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: K1423K

PubMed Link: 36360174

Variant Present in the following documents:

• Main text
• genes-13-01937.pdf

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Functional Analyses of Two Novel LRRK2 Pathogenic Variants in Familial Parkinson's Disease.

Movement Disorders : Official Journal Of The Movement Disorder Society

Coku, Ilda I; Mutez, Eugénie E; Eddarkaoui, Sabiha S; Carrier, Sébastien S; Marchand, Antoine A; Deldycke, Claire C; Goveas, Liesel L; Baille, Guillaume G; Tir, Mélissa M; Magnez, Romain R; Thuru, Xavier X; Vermeersch, Gaëlle G; Vandenberghe, Wim W; Buée, Luc L; Defebvre, Luc L; Sablonnière, Bernard B; Chartier-Harlin, Marie-Christine MC; Taymans, Jean-Marc JM; Huin, Vincent V

Publication Date: 2022-08

Variant appearance in text: LRRK2: K1423K

PubMed Link: 35708213

Variant Present in the following documents:

• Main text
• MDS-37-1761.pdf

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High-Throughput Sequencing Haplotype Analysis Indicates in LRRK2 Gene a Potential Risk Factor for Endemic Parkinsonism in Southeastern Moravia, Czech Republic.

Life (Basel, Switzerland)

Kolarikova, Kristyna K; Vodicka, Radek R; Vrtel, Radek R; Stellmachova, Julia J; Prochazka, Martin M; Mensikova, Katerina K; Bartonikova, Tereza T; Furst, Tomas T; Kanovsky, Petr P; Geryk, Jan J

Publication Date: 2022-01-14

Variant appearance in text: LRRK2: K1423K

PubMed Link: 35054514

Variant Present in the following documents:

• Main text
• life-12-00121.pdf

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High-Throughput Sequencing Haplotype Analysis Indicates in LRRK2 Gene a Potential Risk Factor for Endemic Parkinsonism in Southeastern Moravia, Czech Republic.

Life (Basel, Switzerland)

Kolarikova, Kristyna K; Vodicka, Radek R; Vrtel, Radek R; Stellmachova, Julia J; Prochazka, Martin M; Mensikova, Katerina K; Bartonikova, Tereza T; Furst, Tomas T; Kanovsky, Petr P; Geryk, Jan J

Publication Date: 2022-01-14

Variant appearance in text: LRRK2: K1423K

PubMed Link: 35054514

Variant Present in the following documents:

• Main text
• life-12-00121.pdf

View BVdb publication page

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Deep resequencing identifies candidate functional genes in leprosy GWAS loci.

Plos Neglected Tropical Diseases

Fava, Vinicius M VM; Dallmann-Sauer, Monica M; Orlova, Marianna M; Correa-Macedo, Wilian W; Van Thuc, Nguyen N; Thai, Vu Hong VH; Alcaïs, Alexandre A; Abel, Laurent L; Cobat, Aurélie A; Schurr, Erwin E

Publication Date: 2021-12

Variant appearance in text: LRRK2: K1423K; rs11175964

PubMed Link: 34879060

Variant Present in the following documents:

• pntd.0010029.s004.xlsx, sheet 1

View BVdb publication page

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Deep resequencing identifies candidate functional genes in leprosy GWAS loci.

Plos Neglected Tropical Diseases

Fava, Vinicius M VM; Dallmann-Sauer, Monica M; Orlova, Marianna M; Correa-Macedo, Wilian W; Van Thuc, Nguyen N; Thai, Vu Hong VH; Alcaïs, Alexandre A; Abel, Laurent L; Cobat, Aurélie A; Schurr, Erwin E

Publication Date: 2021-12-08

Variant appearance in text: LRRK2: K1423K; rs11175964

PubMed Link: 34879060

Variant Present in the following documents:

• pntd.0010029.s004.xlsx, sheet 1

View BVdb publication page

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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: K1423K

PubMed Link: 34542912

Variant Present in the following documents:

• Main text
• MDS-37-95.pdf

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Understanding LRRK2 kinase activity in preclinical models and human subjects through quantitative analysis of LRRK2 and pT73 Rab10.

Scientific Reports

Wang, Xiang X; Negrou, Elvira E; Maloney, Michael T MT; Bondar, Vitaliy V VV; Andrews, Shan V SV; Montalban, Manuel M; Llapashtica, Ceyda C; Maciuca, Romeo R; Nguyen, Hoang H; Solanoy, Hilda H; Arguello, Annie A; Przybyla, Laralynne L; Moerke, Nathan J NJ; Huntwork-Rodriguez, Sarah S; Henry, Anastasia G AG

Publication Date: 2021-06-18

Variant appearance in text: LRRK2: K1423K

PubMed Link: 34145320

Variant Present in the following documents:

• Main text
• 41598_2021_Article_91943.pdf

View BVdb publication page

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: LRRK2: 4269G>A; K1423K; rs11175964

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Current Update on Clinically Relevant Sleep Issues in Parkinson's Disease: A Narrative Review.

Journal Of Parkinson'S Disease

Suzuki, Keisuke K

Publication Date: 2021

Variant appearance in text: LRRK2: K1423K

PubMed Link: 33896849

Variant Present in the following documents:

• Main text

View BVdb publication page

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Leucine Rich Repeat Kinase 2 and Innate Immunity.

Frontiers In Neuroscience

Ahmadi Rastegar, Diba D; Dzamko, Nicolas N

Publication Date: 2020

Variant appearance in text: LRRK2: K1423K

PubMed Link: 32210756

Variant Present in the following documents:

• Main text
• fnins-14-00193.pdf

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Targeted next-generation sequencing identifies novel variants in candidate genes for Parkinson's disease in Black South African and Nigerian patients.

Bmc Medical Genetics

Oluwole, Oluwafemi G OG; Kuivaniemi, Helena H; Abrahams, Shameemah S; Haylett, William L WL; Vorster, Alvera A AA; van Heerden, Carel J CJ; Kenyon, Colin P CP; Tabb, David L DL; Fawale, Michael B MB; Sunmonu, Taofiki A TA; Ajose, Abiodun A; Olaogun, Matthew O MO; Rossouw, Anastasia C AC; van Hillegondsberg, Ludo S LS; Carr, Jonathan J; Ross, Owen A OA; Komolafe, Morenikeji A MA; Tromp, Gerard G; Bardien, Soraya S

Publication Date: 2020-02-04

Variant appearance in text: LRRK2: 4269G>A; Lys1423=

PubMed Link: 32019516

Variant Present in the following documents:

• 12881_2020_953_MOESM8_ESM.xlsx, sheet 1
• 12881_2020_953_MOESM8_ESM.xlsx, sheet 2

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: LRRK2: 4269G>A; Lys1423=; rs11175964

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: LRRK2: K1423K; rs11175964

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports

Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS

Publication Date: 2018-12-04

Variant appearance in text: rs11175964

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Case-control analysis of LRRK2 protective variants in Essential Tremor.

Scientific Reports

Ng, Adeline S L ASL; Ng, Ebonne Y L EYL; Tan, Yi Jayne YJ; Prakash, Kumar M KM; Au, Wing Lok WL; Tan, Louis C S LCS; Tan, Eng-King EK

Publication Date: 2018-03-28

Variant appearance in text: LRRK2: K1423K

PubMed Link: 29593234

Variant Present in the following documents:

• Main text
• 41598_2018_Article_23711.pdf

View BVdb publication page

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Functional variants in the LRRK2 gene confer shared effects on risk for Crohn's disease and Parkinson's disease.

Science Translational Medicine

Hui, Ken Y KY; Fernandez-Hernandez, Heriberto H; Hu, Jianzhong J; Schaffner, Adam A; Pankratz, Nathan N; Hsu, Nai-Yun NY; Chuang, Ling-Shiang LS; Carmi, Shai S; Villaverde, Nicole N; Li, Xianting X; Rivas, Manual M; Levine, Adam P AP; Bao, Xiuliang X; Labrias, Philippe R PR; Haritunians, Talin T; Ruane, Darren D; Gettler, Kyle K; Chen, Ernie E; Li, Dalin D; Schiff, Elena R ER; Pontikos, Nikolas N; Barzilai, Nir N; Brant, Steven R SR; Bressman, Susan S; Cheifetz, Adam S AS; Clark, Lorraine N LN; Daly, Mark J MJ; Desnick, Robert J RJ; Duerr, Richard H RH; Katz, Seymour S; Lencz, Todd T; Myers, Richard H RH; Ostrer, Harry H; Ozelius, Laurie L; Payami, Haydeh H; Peter, Yakov Y; Rioux, John D JD; Segal, Anthony W AW; Scott, William K WK; Silverberg, Mark S MS; Vance, Jeffery M JM; Ubarretxena-Belandia, Iban I; Foroud, Tatiana T; Atzmon, Gil G; Pe'er, Itsik I; Ioannou, Yiannis Y; McGovern, Dermot P B DPB; Yue, Zhenyu Z; Schadt, Eric E EE; Cho, Judy H JH; Peter, Inga I

Publication Date: 2018-01-10

Variant appearance in text: LRRK2: K1423K

PubMed Link: 29321258

Variant Present in the following documents:

• Main text

View BVdb publication page

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Establishing the role of rare coding variants in known Parkinson's disease risk loci.

Neurobiology Of Aging

Jansen, Iris E IE; Gibbs, J Raphael JR; Nalls, Mike A MA; Price, T Ryan TR; Lubbe, Steven S; van Rooij, Jeroen J; Uitterlinden, André G AG; Kraaij, Robert R; Williams, Nigel M NM; Brice, Alexis A; Hardy, John J; Wood, Nicholas W NW; Morris, Huw R HR; Gasser, Thomas T; Singleton, Andrew B AB; Heutink, Peter P; Sharma, Manu M; ,

Publication Date: 2017-11

Variant appearance in text: LRRK2: K1423K

PubMed Link: 28867149

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs11175964

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases

Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ

Publication Date: 2017-05-23

Variant appearance in text: LRRK2: K1423K; rs11175964

PubMed Link: 28535796

Variant Present in the following documents:

• 13023_2017_647_MOESM1_ESM.xlsx, sheet 4

View BVdb publication page

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Activation of FADD-Dependent Neuronal Death Pathways as a Predictor of Pathogenicity for LRRK2 Mutations.

Plos One

Melachroinou, Katerina K; Leandrou, Emmanouela E; Valkimadi, Polytimi-Eleni PE; Memou, Anna A; Hadjigeorgiou, Georgios G; Stefanis, Leonidas L; Rideout, Hardy J HJ

Publication Date: 2016

Variant appearance in text: LRRK2: K1423K

PubMed Link: 27832104

Variant Present in the following documents:

• Main text
• pone.0166053.pdf

View BVdb publication page

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Study of LRRK2 variation in tauopathy: Progressive supranuclear palsy and corticobasal degeneration.

Movement Disorders : Official Journal Of The Movement Disorder Society

Sanchez-Contreras, Monica M; Heckman, Michael G MG; Tacik, Pawel P; Diehl, Nancy N; Brown, Patricia H PH; Soto-Ortolaza, Alexandra I AI; Christopher, Elizabeth A EA; Walton, Ronald L RL; Ross, Owen A OA; Golbe, Lawrence I LI; Graff-Radford, Neill N; Wszolek, Zbigniew K ZK; Dickson, Dennis W DW; Rademakers, Rosa R

Publication Date: 2017-01

Variant appearance in text: LRRK2: K1423K; rs11175964

PubMed Link: 27709685

Variant Present in the following documents:

• Main text

View BVdb publication page

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LRRK2 variation and dementia with Lewy bodies.

Parkinsonism & Related Disorders

Heckman, Michael G MG; Soto-Ortolaza, Alexandra I AI; Contreras, Monica Y Sanchez MYS; Murray, Melissa E ME; Pedraza, Otto O; Diehl, Nancy N NN; Walton, Ronald R; Labbé, Catherine C; Lorenzo-Betancor, Oswaldo O; Uitti, Ryan J RJ; van Gerpen, Jay J; Ertekin-Taner, Nilüfer N; Smith, Glenn E GE; Kantarci, Kejal K; Savica, Rodolfo R; Jones, David T DT; Graff-Radford, Jonathan J; Knopman, David S DS; Lowe, Val J VJ; Jack, Clifford R CR; Petersen, Ronald C RC; Parisi, Joseph E JE; Rademakers, Rosa R; Wszolek, Zbigniew K ZK; Graff-Radford, Neill R NR; Ferman, Tanis J TJ; Dickson, Dennis W DW; Boeve, Bradley F BF; Ross, Owen A OA

Publication Date: 2016-10

Variant appearance in text: LRRK2: K1423K; rs11175964

PubMed Link: 27521182

Variant Present in the following documents:

• Main text

View BVdb publication page

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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: LRRK2: K1423K; rs11175964

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 1
• mmc3.xlsx, sheet 3

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: LRRK2: K1423K; rs11175964

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Genetic variants ofLRRK2 in Taiwanese Parkinson's disease.

Plos One

Wu, Yih-Ru YR; Chang, Kuo-Hsuan KH; Chang, Wen-Teng WT; Hsiao, Ya-Chin YC; Hsu, Hsuan-Chu HC; Jiang, Pei-Ru PR; Chen, Yi-Chun YC; Chao, Chih-Ying CY; Chang, Yi-Chung YC; Lee, Bo-Hsun BH; Hu, Fen-Ju FJ; Chen, Wan-Ling WL; Lee-Chen, Guey-Jen GJ; Chen, Chiung-Mei CM

Publication Date: 2013

Variant appearance in text: rs11175964

PubMed Link: 24339985

Variant Present in the following documents:

• Main text
• pone.0082001.pdf

View BVdb publication page

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GWAS risk factors in Parkinson's disease: LRRK2 coding variation and genetic interaction with PARK16.

American Journal Of Neurodegenerative Disease

Soto-Ortolaza, Alexandra I AI; Heckman, Michael G MG; Labbé, Catherine C; Serie, Daniel J DJ; Puschmann, Andreas A; Rayaprolu, Sruti S; Strongosky, Audrey A; Boczarska-Jedynak, Magdalena M; Opala, Grzegorz G; Krygowska-Wajs, Anna A; Barcikowska, Maria M; Czyzewski, Krzysztof K; Lynch, Timothy T; Uitti, Ryan J RJ; Wszolek, Zbigniew K ZK; Ross, Owen A OA

Publication Date: 2013

Variant appearance in text: LRRK2: K1423K; rs11175964

PubMed Link: 24319646

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: K1423K; rs11175964

PubMed Link: 24014121

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: K1423K

PubMed Link: 23938341

Variant Present in the following documents:

• Main text
• nihms516093.pdf

View BVdb publication page

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Common variation in the LRRK2 gene is a risk factor for Parkinson's disease.

Movement Disorders : Official Journal Of The Movement Disorder Society

Mata, Ignacio F IF; Checkoway, Harvey H; Hutter, Carolyn M CM; Samii, Ali A; Roberts, John W JW; Kim, Hojoong M HM; Agarwal, Pinky P; Alvarez, Victoria V; Ribacoba, Renee R; Pastor, Pau P; Lorenzo-Betancor, Oswaldo O; Infante, Jon J; Sierra, María M; Gómez-Garre, Pilar P; Mir, Pablo P; Ritz, Beate B; Rhodes, Shannon L SL; Colcher, Amy A; Van Deerlin, Vivianna V; Chung, Kathryn A KA; Quinn, Joseph F JF; Yearout, Dora D; Martinez, Erica E; Farin, Federico M FM; Wan, Jia Y JY; Edwards, Karen L KL; Zabetian, Cyrus P CP

Publication Date: 2012-12

Variant appearance in text: LRRK2: K1423K

PubMed Link: 23115130

Variant Present in the following documents:

• Main text

View BVdb publication page

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Deep sequencing of the LRRK2 gene in 14,002 individuals reveals evidence of purifying selection and independent origin of the p.Arg1628Pro mutation in Europe.

Human Mutation

Rubio, Justin P JP; Topp, Simon S; Warren, Liling L; St Jean, Pamela L PL; Wegmann, Daniel D; Kessner, Darren D; Novembre, John J; Shen, Judong J; Fraser, Dana D; Aponte, Jennifer J; Nangle, Keith K; Cardon, Lon R LR; Ehm, Margaret G MG; Chissoe, Stephanie L SL; Whittaker, John C JC; Nelson, Matthew R MR; Mooser, Vincent E VE

Publication Date: 2012-07

Variant appearance in text: LRRK2: 4269G>A; Lys1423Lys; rs11175964

PubMed Link: 22415848

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study.

The Lancet. Neurology

Ross, Owen A OA; Soto-Ortolaza, Alexandra I AI; Heckman, Michael G MG; Aasly, Jan O JO; Abahuni, Nadine N; Annesi, Grazia G; Bacon, Justin A JA; Bardien, Soraya S; Bozi, Maria M; Brice, Alexis A; Brighina, Laura L; Van Broeckhoven, Christine C; Carr, Jonathan J; Chartier-Harlin, Marie-Christine MC; Dardiotis, Efthimios E; Dickson, Dennis W DW; Diehl, Nancy N NN; Elbaz, Alexis A; Ferrarese, Carlo C; Ferraris, Alessandro A; Fiske, Brian B; Gibson, J Mark JM; Gibson, Rachel R; 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; Lesage, Suzanne S; Lin, Chin-Hsien CH; Lynch, Timothy T; Maraganore, Demetrius M DM; Mellick, George D GD; Mutez, Eugénie E; Nilsson, Christer C; Opala, Grzegorz G; Park, Sung Sup SS; Puschmann, Andreas A; Quattrone, Aldo A; Sharma, Manu M; Silburn, Peter A PA; Sohn, Young Ho YH; Stefanis, Leonidas L; Tadic, Vera V; Theuns, Jessie J; Tomiyama, Hiroyuki H; Uitti, Ryan J RJ; Valente, Enza Maria EM; van de Loo, Simone S; Vassilatis, Demetrios K DK; Vilariño-Güell, Carles C; White, Linda R LR; Wirdefeldt, Karin K; Wszolek, Zbigniew K ZK; Wu, Ruey-Meei RM; Farrer, Matthew J MJ; ,

Publication Date: 2011-10

Variant appearance in text: LRRK2: K1423K; rs11175964

PubMed Link: 21885347

Variant Present in the following documents:

• Main text

View BVdb publication page

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LRRK2 variation and Parkinson's disease in African Americans.

Movement Disorders : Official Journal Of The Movement Disorder Society

Ross, Owen A OA; Wilhoite, Greggory J GJ; Bacon, Justin A JA; Soto-Ortolaza, Alexandra A; Kachergus, Jennifer J; Cobb, Stephanie A SA; Puschmann, Andreas A; Vilariño-Güell, Carles C; Farrer, Matthew J MJ; Graff-Radford, Neill N; Meschia, James F JF; Wszolek, Zbigniew K ZK

Publication Date: 2010-09-15

Variant appearance in text: LRRK2: K1423K; rs11175964

PubMed Link: 20669299

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update.

Human Mutation

Nuytemans, Karen K; Theuns, Jessie J; Cruts, Marc M; Van Broeckhoven, Christine C

Publication Date: 2010-07

Variant appearance in text: LRRK2: 4269G>A; rs11175964

PubMed Link: 20506312

Variant Present in the following documents:

• humu0031-0763-SD1.pdf

View BVdb publication page

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Parkinson's disease and low frequency alleles found together throughout LRRK2.

Annals Of Human Genetics

Paisán-Ruiz, Coro C; Washecka, Nicole N; Nath, Priti P; Singleton, Andrew B AB; Corder, Elizabeth H EH

Publication Date: 2009-07

Variant appearance in text: rs11175964

PubMed Link: 19489756

Variant Present in the following documents:

• Main text

View BVdb publication page

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Haplotype analysis of Lrrk2 R1441H carriers with parkinsonism.

Parkinsonism & Related Disorders

Ross, Owen A OA; Spanaki, Cleanthe C; Griffith, Alida A; Lin, Chin-Hsien CH; Kachergus, Jennifer J; Haugarvoll, Kristoffer K; Latsoudis, Helen H; Plaitakis, Andreas A; Ferreira, Joaquim J JJ; Sampaio, Cristina C; Bonifati, Vincenzo V; Wu, Ruey-Meei RM; Zabetian, Cyrus P CP; Farrer, Matthew J MJ

Publication Date: 2009-07

Variant appearance in text: rs11175964

PubMed Link: 18952485

Variant Present in the following documents:

• Main text

View BVdb publication page

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