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Alpha-synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease
Appel-Cresswell, Silke, Vilarino-Guell, Carles, Encarnacion, Mary, Sherman, Holly, Yu, Irene, Shah, Brinda, Weir, David, Thompson, Christina, Szu-Tu, Chelsea, Trinh, Joanne, Aasly, Jan O., Rajput, Alex, Rajput, Ali H., Jon Stoessl, A., Farrer, Matthew J.
Published in Movement disorders (01.06.2013)
Published in Movement disorders (01.06.2013)
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Journal Article
VPS35 Mutations in Parkinson Disease
Vilariño-Güell, Carles, Wider, Christian, Ross, Owen A., Dachsel, Justus C., Kachergus, Jennifer M., Lincoln, Sarah J., Soto-Ortolaza, Alexandra I., Cobb, Stephanie A., Wilhoite, Greggory J., Bacon, Justin A., Behrouz, Bahareh, Melrose, Heather L., Hentati, Emna, Puschmann, Andreas, Evans, Daniel M., Conibear, Elizabeth, Wasserman, Wyeth W., Aasly, Jan O., Burkhard, Pierre R., Djaldetti, Ruth, Ghika, Joseph, Hentati, Faycal, Krygowska-Wajs, Anna, Lynch, Tim, Melamed, Eldad, Rajput, Alex, Rajput, Ali H., Solida, Alessandra, Wu, Ruey-Meei, Uitti, Ryan J., Wszolek, Zbigniew K., Vingerhoets, François, Farrer, Matthew J.
Published in American journal of human genetics (15.07.2011)
Published in American journal of human genetics (15.07.2011)
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Journal Article
DNM3 and genetic modifiers of age of onset in LRRK2 Gly2019Ser parkinsonism: a genome-wide linkage and association study
Trinh, Joanne, Gustavsson, Emil K, Vilariño-Güell, Carles, Bortnick, Stephanie, Latourelle, Jeanne, McKenzie, Marna B, Tu, Chelsea Szu, Nosova, Ekaterina, Khinda, Jaskaran, Milnerwood, Austen, Lesage, Suzanne, Brice, Alexis, Tazir, Meriem, Aasly, Jan O, Parkkinen, Laura, Haytural, Hazal, Foroud, Tatiana, Myers, Richard H, Sassi, Samia Ben, Hentati, Emna, Nabli, Fatma, Farhat, Emna, Amouri, Rim, Hentati, Fayçal, Farrer, Matthew J
Published in Lancet neurology (01.11.2016)
Published in Lancet neurology (01.11.2016)
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Journal Article
Metabolomic Profiling in LRRK2-Related Parkinson's Disease
Johansen, Krisztina K., Wang, Lei, Aasly, Jan O., White, Linda R., Matson, Wayne R., Henchcliffe, Claire, Beal, M. Flint, Bogdanov, Mikhail
Published in PloS one (22.10.2009)
Published in PloS one (22.10.2009)
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Journal Article
DNAJC13 mutations in Parkinson disease
Vilariño-Güell, Carles, Rajput, Alex, Milnerwood, Austen J., Shah, Brinda, Szu-Tu, Chelsea, Trinh, Joanne, Yu, Irene, Encarnacion, Mary, Munsie, Lise N., Tapia, Lucia, Gustavsson, Emil K., Chou, Patrick, Tatarnikov, Igor, Evans, Daniel M., Pishotta, Frederick T., Volta, Mattia, Beccano-Kelly, Dayne, Thompson, Christina, Lin, Michelle K., Sherman, Holly E., Han, Heather J., Guenther, Bruce L., Wasserman, Wyeth W., Bernard, Virginie, Ross, Colin J., Appel-Cresswell, Silke, Stoessl, A. Jon, Robinson, Christopher A., Dickson, Dennis W., Ross, Owen A., Wszolek, Zbigniew K., Aasly, Jan O., Wu, Ruey-Meei, Hentati, Faycal, Gibson, Rachel A., McPherson, Peter S., Girard, Martine, Rajput, Michele, Rajput, Ali H., Farrer, Matthew J.
Published in Human molecular genetics (01.04.2014)
Published in Human molecular genetics (01.04.2014)
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Journal Article
The accuracy of the clinical diagnosis of Parkinson disease. The HUNT study
Hustad, Eldbjørg, Skogholt, Anne Heidi, Hveem, Kristian, Aasly, Jan O.
Published in Journal of neurology (01.09.2018)
Published in Journal of neurology (01.09.2018)
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Journal Article
Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case–control study
Ross, Owen A, Soto-Ortolaza, Alexandra I, Heckman, Michael G, Aasly, Jan O, Abahuni, Nadine, Annesi, Grazia, Bacon, Justin A, Bardien, Soraya, Bozi, Maria, Brice, Alexis, Brighina, Laura, Van Broeckhoven, Christine, Carr, Jonathan, Chartier-Harlin, Marie-Christine, Dardiotis, Efthimios, Dickson, Dennis W, Diehl, Nancy N, Elbaz, Alexis, Ferrarese, Carlo, Ferraris, Alessandro, Fiske, Brian, Gibson, J Mark, Gibson, Rachel, Hadjigeorgiou, Georgios M, Hattori, Nobutaka, Ioannidis, John PA, Jasinska-Myga, Barbara, Jeon, Beom S, Kim, Yun Joong, Klein, Christine, Kruger, Rejko, Kyratzi, Elli, Lesage, Suzanne, Lin, Chin-Hsien, Lynch, Timothy, Maraganore, Demetrius M, Mellick, George D, Mutez, Eugénie, Nilsson, Christer, Opala, Grzegorz, Park, Sung Sup, Puschmann, Andreas, Quattrone, Aldo, Sharma, Manu, Silburn, Peter A, Sohn, Young Ho, Stefanis, Leonidas, Tadic, Vera, Theuns, Jessie, Tomiyama, Hiroyuki, Uitti, Ryan J, Valente, Enza Maria, van de Loo, Simone, Vassilatis, Demetrios K, Vilariño-Güell, Carles, White, Linda R, Wirdefeldt, Karin, Wszolek, Zbigniew K, Wu, Ruey-Meei, Farrer, Matthew J
Published in Lancet neurology (01.10.2011)
Published in Lancet neurology (01.10.2011)
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Journal Article
Serotonin and dopamine transporter PET changes in the premotor phase of LRRK2 parkinsonism: cross-sectional studies
Wile, Daryl J, Agarwal, Pankaj A, Schulzer, Michael, Mak, Edwin, Dinelle, Katherine, Shahinfard, Elham, Vafai, Nasim, Hasegawa, Kazuko, Zhang, Jing, McKenzie, Jessamyn, Neilson, Nicole, Strongosky, Audrey, Uitti, Ryan J, Guttman, Mark, Zabetian, Cyrus P, Ding, Yu-Shin, Adam, Mike, Aasly, Jan, Wszolek, Zbigniew K, Farrer, Matthew, Sossi, Vesna, Stoessl, A Jon
Published in Lancet neurology (01.05.2017)
Published in Lancet neurology (01.05.2017)
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Journal Article
GBA1 in Parkinson’s disease: variant detection and pathogenicity scoring matters
Gabbert, Carolin, Schaake, Susen, Lüth, Theresa, Much, Christoph, Klein, Christine, Aasly, Jan O., Farrer, Matthew J., Trinh, Joanne
Published in BMC genomics (13.06.2023)
Published in BMC genomics (13.06.2023)
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Journal Article
The effect of LRRK2 mutations on the cholinergic system in manifest and premanifest stages of Parkinson's disease: a cross-sectional PET study
Liu, Shu-Ying, Wile, Daryl J, Fu, Jessie Fanglu, Valerio, Jason, Shahinfard, Elham, McCormick, Siobhan, Mabrouk, Rostom, Vafai, Nasim, McKenzie, Jess, Neilson, Nicole, Perez-Soriano, Alexandra, Arena, Julieta E, Cherkasova, Mariya, Chan, Piu, Zhang, Jing, Zabetian, Cyrus P, Aasly, Jan O, Wszolek, Zbigniew K, McKeown, Martin J, Adam, Michael J, Ruth, Thomas J, Schulzer, Michael, Sossi, Vesna, Stoessl, A Jon
Published in Lancet neurology (01.04.2018)
Published in Lancet neurology (01.04.2018)
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Journal Article
Neuropathological findings in PINK1-associated Parkinson's disease
Nybø, Camilla Jøsok, Gustavsson, Emil K., Farrer, Matthew J., Aasly, Jan O.
Published in Parkinsonism & related disorders (01.09.2020)
Published in Parkinsonism & related disorders (01.09.2020)
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Journal Article
CSF lamp2 concentrations are decreased in female Parkinson’s disease patients with LRRK2 mutations
Klaver, Andrea C., Coffey, Mary P., Aasly, Jan O., Loeffler, David A.
Published in Brain research (15.03.2018)
Published in Brain research (15.03.2018)
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Journal Article
Heterozygous PINK1 p.G411S increases risk of Parkinson’s disease via a dominant-negative mechanism
Puschmann, Andreas, Fiesel, Fabienne C., Caulfield, Thomas R., Hudec, Roman, Ando, Maya, Truban, Dominika, Hou, Xu, Ogaki, Kotaro, Heckman, Michael G., James, Elle D., Swanberg, Maria, Jimenez-Ferrer, Itzia, Hansson, Oskar, Opala, Grzegorz, Siuda, Joanna, Boczarska-Jedynak, Magdalena, Friedman, Andrzej, Koziorowski, Dariusz, Aasly, Jan O., Lynch, Timothy, Mellick, George D., Mohan, Megha, Silburn, Peter A., Sanotsky, Yanosh, Vilariño-Güell, Carles, Farrer, Matthew J., Chen, Li, Dawson, Valina L., Dawson, Ted M., Wszolek, Zbigniew K., Ross, Owen A., Springer, Wolfdieter
Published in Brain (London, England : 1878) (01.01.2017)
Published in Brain (London, England : 1878) (01.01.2017)
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Journal Article
Arm swing as a potential new prodromal marker of Parkinson's disease
Mirelman, Anat, Bernad-Elazari, Hagar, Thaler, Avner, Giladi-Yacobi, Eytan, Gurevich, Tanya, Gana-Weisz, Mali, Saunders-Pullman, Rachel, Raymond, Deborah, Doan, Nancy, Bressman, Susan B., Marder, Karen S., Alcalay, Roy N., Rao, Ashwini K., Berg, Daniela, Brockmann, Kathrin, Aasly, Jan, Waro, Bjørg Johanne, Tolosa, Eduardo, Vilas, Dolores, Pont-Sunyer, Claustre, Orr-Urtreger, Avi, Hausdorff, Jeffrey M., Giladi, Nir
Published in Movement disorders (01.10.2016)
Published in Movement disorders (01.10.2016)
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Journal Article
CSF total and oligomeric α-Synuclein along with TNF-α as risk biomarkers for Parkinson’s disease: a study in LRRK2 mutation carriers
Majbour, Nour K., Aasly, Jan O., Hustad, Eldbjørg, Thomas, Mercy A., Vaikath, Nishant N., Elkum, Naser, van de Berg, Wilma D. J., Tokuda, Takahiko, Mollenhauer, Brit, Berendse, Henk W., El-Agnaf, Omar M. A.
Published in Translational neurodegeneration (06.05.2020)
Published in Translational neurodegeneration (06.05.2020)
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Journal Article