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
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; ,
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
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
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
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
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; ,