Association of caffeine and related analytes with resistance to Parkinson disease among LRRK2 mutation carriers: A metabolomic study.
Neurology
Crotty, Grace F GF; Maciuca, Romeo R; Macklin, Eric A EA; Wang, Junhua J; Montalban, Manuel M; Davis, Sonnet S SS; Alkabsh, Jamal I JI; Bakshi, Rachit R; Chen, Xiqun X; Ascherio, Alberto A; Astarita, Giuseppe G; Huntwork-Rodriguez, Sarah S; Schwarzschild, Michael A MA
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: Leu1114Leu; rs35808389
Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.
Plos One
Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E
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: L1114L; rs35808389
Motor phenotype of LRRK2 G2019S carriers in early-onset Parkinson disease.
Archives Of Neurology
Alcalay, Roy N RN; Mejia-Santana, Helen H; Tang, Ming Xin MX; Rosado, Llency L; Verbitsky, Miguel M; Kisselev, Sergey S; Ross, Barbara M BM; Louis, Elan D ED; Comella, Cynthia L CL; Colcher, Amy A; Jennings, Danna D; Nance, Martha A MA; Bressman, Susan S; Scott, William K WK; Tanner, Caroline C; Mickel, Susan F SF; Andrews, Howard F HF; Waters, Cheryl H CH; Fahn, Stanley S; Cote, Lucien J LJ; Frucht, Steven J SJ; Ford, Blair B; Rezak, Michael M; Novak, Kevin K; Friedman, Joseph H JH; Pfeiffer, Ronald R; Marsh, Laura L; Hiner, Bradley B; Siderowf, Andrew A; Caccappolo, Elise E; Ottman, Ruth R; Clark, Lorraine N LN; Marder, Karen S KS
Mutations in the Parkinson's disease genes, Leucine Rich Repeat Kinase 2 (LRRK2) and Glucocerebrosidase (GBA), are not associated with essential tremor.
Parkinsonism & Related Disorders
Clark, Lorraine N LN; Kisselev, Sergey S; Park, Naeun N; Ross, Barbara B; Verbitsky, Miguel M; Rios, Eileen E; Alcalay, Roy N RN; Lee, Joseph H JH; Louis, Elan D ED
Risk of Parkinson disease in carriers of parkin mutations: estimation using the kin-cohort method.
Archives Of Neurology
Wang, Yuanjia Y; Clark, Lorraine N LN; Louis, Elan D ED; Mejia-Santana, Helen H; Harris, Juliette J; Cote, Lucien J LJ; Waters, Cheryl C; Andrews, Howard H; Ford, Blair B; Frucht, Steven S; Fahn, Stanley S; Ottman, Ruth R; Rabinowitz, Daniel D; Marder, Karen K
Mutations in the glucocerebrosidase gene are associated with early-onset Parkinson disease.
Neurology
Clark, L N LN; Ross, B M BM; Wang, Y Y; Mejia-Santana, H H; Harris, J J; Louis, E D ED; Cote, L J LJ; Andrews, H H; Fahn, S S; Waters, C C; Ford, B B; Frucht, S S; Ottman, R R; Marder, K K