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Biomarkers of Leucine-Rich Repeat Kinase 2 (LRRK2) and Lysosomal Dysfunction in Progressive Supranuclear Palsy 富亮氨酸重复激酶2（LRRK2）和溶酶体功能障碍的进行性核上性麻痹的生物标志物 Nielsen, Louise-Kristine; Frost, Joshua L. I.; Vaughan, David P.; Real, Raquel; Fumi, Riona; Jensen, Marte Theilmann; Hodgson, Megan; Stafford, Eleanor J.; Wu, Lesley; Ansorge, Olaf; Quaegebeur, Annelies; Allinson, Kieren S. J.; Warner, Thomas T.; Jaunmuktane, Zane; Misbahuddin, Anjum; Leigh, P. Nigel; Ghosh, Boyd C. P.; Bhatia, Kailash P.; Church, Alistair; Kobylecki, Christopher; Hu, Michele T. M.; Rowe, James B.; Shomo, Alan A.; Graham, Danielle L.; Mabrouk, Omar S.; Morris, Huw R.; Sammler, Esther M.; Jabbari, Edwin 分享 收藏
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Pathogenic or Likely Pathogenic GRN Variants Are Found in 0.1% of Parkinson's Disease Patients Ganoza, Christian A.; Westenberger, Ana; Paul, Jefri J.; Curado, Filipa; Rennecke, Jorg; Mannepalli, Sumanth; Zonic, Emir; Saravanakumar, Deepa; Paknia, Omid; Al-ali, Ruslan; Laabs, Bjorn-hergen; Csoti, Ilona; Valzania, Franco; Vandenberghe, Wim; Reetz, Katrin; Afshari, Mitra; Hassin-Baer, Sharon; Fonoff, Erich Talamoni; Gruber, Doreen; de Rosa, Anna; Musacchio, Thomas; De Carvalho Aguiar, Patricia; Negrotti, Anna; Tumas, Vitor; Gomez-esteban, Juan Carlos; Gurevich, Tanya; Pavese, Nicola; Kulisevsky, Jaime; Sammler, Esther; Klein, Christine; Bauer, Peter; Beetz, Christian 分享 收藏
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Inflammation and IL-4 regulate Parkinson's and Crohn's disease associated kinase LRRK2 炎症和IL-4调控帕金森病和克罗恩病相关激酶LRRK2 Dikovskaya, Dina; Pemberton, Rebecca; Taylor, Matthew; Tasegian, Anna; Bhattacharya, Purbasha; Zeneviciute, Karolina; Sammler, Esther M.; Howden, Andrew J. M.; Alessi, Dario R.; Swamy, Mahima 分享 收藏
The R1441C-Lrrk2 mutation induces myeloid immune cell exhaustion in an age- and sex-dependent manner in mice Wallings, Rebecca L.; McFarland, Karen; Staley, Hannah A.; Neighbarger, Noelle; Schaake, Susen; Brueggemann, Norbert; Zittel, Simone; Usnich, Tatiana; Klein, Christine; Sammler, Esther M.; Tansey, Malu Gamez 分享 收藏
The protean presentations of XK disease (McLeod syndrome): a case series with new observations and updates on previously reported families Walker, Ruth H.; Barreto, Mariana; Bateman, James R.; Bustamante, M. Leonor; Chiu, Graham; Feitell, Scott; Frey, Beat M.; Guerra, Patricio; Guerrero, Sofia; Jung, Hans H.; Maldonado, Fernando; Meyer, Eduardo; Miranda, Marcelo; McFarland, Emelie; Oates, Patricia; Ochoa, Gorka; Olsson, Karin; Paucar, Martin; Proschle, Jonatan Alvarez; Sammler, Esther M.; Troncoso, Monica; Wu-Wallace, Rachel; Young, Leo; Vege, Sunitha; Westhoff, Connie M.; Danek, Adrian 分享 收藏
Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson's disease study 基因靶向试验时代基因检测的相关性: 罗斯托克帕金森病研究 Westenberger, Ana; Skrahina, Volha; Usnich, Tatiana; Beetz, Christian; Vollstedt, Eva-Juliane; Laabs, Bjoern-Hergen; Paul, Jefri J.; Curado, Filipa; Skobalj, Snezana; Gaber, Hanaa; Olmedillas, Maria; Bogdanovic, Xenia; Ameziane, Najim; Schell, Nathalie; Aasly, Jan Olav; Afshari, Mitra; Agarwal, Pinky; Aldred, Jason; Alonso-Frech, Fernando; Anderson, Roderick; Araujo, Rui; Arkadir, David; Avenali, Micol; Balal, Mehmet; Benizri, Sandra; Bette, Sagari; Bhatia, Perminder; Bonello, Michael; Braga-Neto, Pedro; Brauneis, Sarah; Cardoso, Francisco Eduardo Costa; Cavallieri, Francesco; Classen, Joseph; Cohen, Lisa; Coletta, Della; Crosiers, David; Cullufi, Paskal; Dashtipour, Khashayar; Demirkiran, Meltem; Aguiar, Patricia de Carvalho; De Rosa, Anna; Djaldetti, Ruth; Dogu, Okan; Ghilardi, Maria Gabriela dos Santos; Eggers, Carsten; Elibol, Bulent; Ellenbogen, Aaron; Ertan, Sibel; Fabiani, Giorgio; Falkenburger, Bjoern H.; Farrow, Simon; Fay-Karmon, Tsviya; Ferencz, Gerald J.; Fonoff, Erich Talamoni; Fragoso, Yara Dadalti; Genc, Gencer; Gorospe, Arantza; Grandas, Francisco; Gruber, Doreen; Gudesblatt, Mark; Gurevich, Tanya; Hagenah, Johann; Hanagasi, Hasmet A.; Hassin-Baer, Sharon; Hauser, Robert A.; Hernandez-Vara, Jorge; Herting, Birgit; Hinson, Vanessa K.; Hogg, Elliot; Hu, Michele T.; Hummelgen, Eduardo; Hussey, Kelly; Infante, Jon; Isaacson, Stuart H.; Jauma, Serge; Koleva-Alazeh, Natalia; Kuhlenbaeumer, Gregor; Kuehn, Andrea; Litvan, Irene; Lopez-Manzanares, Lydia; Luxmore, McKenzie; Manandhar, Sujeena; Marcaud, Veronique; Markopoulou, Katerina; Marras, Connie; McKenzie, Mark; Matarazzo, Michele; Merello, Marcelo; Mollenhauer, Brit; Morgan, John C.; Mullin, Stephen; Musacchio, Thomas; Myers, Bennett; Negrotti, Anna; Nieves, Anette; Nitsan, Zeev; Oskooilar, Nader; Oztop-Cakmak, Ozgur; Pal, Gian; Pavese, Nicola; Percesepe, Antonio; Piccoli, Tommaso; de Souza, Carolina Pinto; Prell, Tino; Pulera, Mark; Raw, Jason; Reetz, Kathrin; Reiner, Johnathan; Rosenberg, David; Ruiz-Lopez, Marta; Martinez, Javier Ruiz; Sammler, Esther; Santos-Lobato, Bruno Lopes; Saunders-Pullman, Rachel; Schlesinger, Ilana; Schofield, Christine M.; Schumacher-Schuh, Artur F.; Scott, Burton; Sesar, ngel; Shafer, Stuart J.; Sheridan, Ray; Silverdale, Monty; Sophia, Rani; Spitz, Mariana; Stathis, Pantelis; Stocchi, Fabrizio; Tagliati, Michele; Tai, Yen F.; Terwecoren, Annelies; Thonke, Sven; Toenges, Lars; Toschi, Giulia; Tumas, Vitor; Urban, Peter Paul; Vacca, Laura; Vandenberghe, Wim; Valente, Enza Maria; Valzania, Franco; Vela-Desojo, Lydia; Weill, Caroline; Weise, David; Wojcieszek, Joanne; Wolz, Martin; Yahalom, Gilad; Yalcin-Cakmakli, Gul; Zittel, Simone; Zlotnik, Yair; Kandaswamy, Krishna K.; Balck, Alexander; Hanssen, Henrike; Borsche, Max; Lange, Lara M.; Csoti, Ilona; Lohmann, Katja; Kasten, Meike; Brueggemann, Norbert; Rolfs, Arndt; Klein, Christine; Bauer, Peter 分享 收藏
Comprehensive genetic screening of early-onset dementia patients in an Austrian cohort-suggesting new disease-contributing genes (vol 17, 55, 2023) 奥地利队列中早发性痴呆患者的综合遗传筛查-提示新的疾病贡献基因 (vol 17，55，2023) Silvaieh, Sara; Koenig, Theresa; Wurm, Raphael; Parvizi, Tandis; Berger-Sieczkowski, Evelyn; Goeschl, Stella; Hotzy, Christoph; Wagner, Matias; Berutti, Riccardo; Sammler, Esther; Stoegmann, Elisabeth; Zimprich, Alexander 分享 收藏
Comprehensive genetic screening of early-onset dementia patients in an Austrian cohort-suggesting new disease-contributing genes 奥地利队列中早发性痴呆患者的综合遗传筛查-提示新的致病基因 Silvaieh, Sara; Koenig, Theresa; Wurm, Raphael; Parvizi, Tandis; Berger-Sieczkowski, Evelyn; Goeschl, Stella; Hotzy, Christoph; Wagner, Matias; Berutti, Riccardo; Sammler, Esther; Stoegmann, Elisabeth; Zimprich, Alexander 分享 收藏
Elevated urine BMP phospholipids in LRRK2 and VPS35 mutation carriers with and without Parkinson's disease Gomes, Sara; Garrido, Alicia; Tonelli, Francesca; Obiang, Donina; Tolosa, Eduardo; Marti, Maria Jose; Ruiz-Martinez, Javier; Vinagre-Aragon, Ana; Hernandez-Eguiazu, Haizea; Croitoru, Ioana; Marshall, Vicky L.; Koenig, Theresa; Hotzy, Christoph; Hsieh, Frank; Sakalosh, Marianna; Tengstrand, Elizabeth; Padmanabhan, Shalini; Merchant, Kalpana; Bruecke, Christof; Pirker, Walter; Zimprich, Alexander; Sammler, Esther 分享 收藏
The New p.F1700L LRRK2 Variant Causes Parkinson's Disease by Extensively Increasing Kinase Activity Borsche, Max; Pratuseviciute, Neringa; Schaake, Susen; Hinrichs, Frauke; Morel, Gabriel; Uter, Jan; Lohmann, Katja; Klein, Christine; Alessi, Dario R.; Hagenah, Johann; Sammler, Esther 分享 收藏
Frequency of non-motor symptoms in Parkinson?s disease patients carrying the E326K and T369M GBA risk variants Usnich, Tatiana; Olmedillas, Maria; Schell, Nathalie; Paul, Jefri J.; Curado, Filipa; Skobalj, Snezana; Csoti, Ilona; Ertan, Sibel; Gruber, Doreen; Zittel, Simone; Sammler, Esther; Isaacson, Stuart H.; Kuehn, Andrea A.; Pedrosa, David J.; Reetz, Kathrin; Kasten, Meike; Rolfs, Arndt; Bauer, Peter; Skrahina, Volha; Klein, Christine; Brueggemann, Norbert 分享 收藏
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