未登录 In Memoriam: Mark Hallett (1943-2025) 追思:Mark Hallett(1943-2025) Burn, David J.; Cardoso, Francisco E. C.; Chen, Robert; Espay, Alberto J.; Fahn, Stanley; Fox, Susan H.; Fung, Victor S. C.; Goetz, Christopher G.; Goldman, Jennifer G.; Jankovic, Joseph; Jeon, Beomseok; Lang, Anthony E.; Lees, Andrew J.; Merello, Marcelo; Okun, Michael S.; Poewe, Werner; Sue, Carolyn M.; Trenkwalder, Claudia 分享 收藏
Genome-Wide Association Study of Glucocerebrosidase Activity Modifiers 全基因组关联研究:葡萄糖脑苷酶活性修饰因子 Somerville, Emma N.; Krohn, Lynne; Senkevich, Konstantin; Yu, Eric; Ahmad, Jamil; Asayesh, Farnaz; Ruskey, Jennifer A.; Spiegelman, Dan; Fahn, Stanley; Waters, Cheryl; Sardi, S. Pablo; Alcalay, Roy N.; Gan-Or, Ziv 分享 收藏
The Parkinson's disease risk gene cathepsin B promotes fibrillar alpha-synuclein clearance, lysosomal function and glucocerebrosidase activity in dopaminergic neurons (vol 19, 88, 2024) Jones-Tabah, Jace; He, Kathy; Karpilovsky, Nathan; Senkevich, Konstantin; Deyab, Ghislaine; Pietrantonio, Isabella; Goiran, Thomas; Cousineau, Yuting; Nikanorova, Daria; Goldsmith, Taylor; del Cid Pellitero, Esther; Chen, Carol X. -Q.; Luo, Wen; You, Zhipeng; Abdian, Narges; Ahmad, Jamil; Ruskey, Jennifer A.; Asayesh, Farnaz; Spiegelman, Dan; Fahn, Stanley; Waters, Cheryl; Monchi, Oury; Dauvilliers, Yves; Dupre, Nicolas; Miliukhina, Irina; Timofeeva, Alla; Emelyanov, Anton; Pchelina, Sofya; Greenbaum, Lior; Hassin-Baer, Sharon; Alcalay, Roy N.; Milnerwood, Austen; Durcan, Thomas M.; Gan-Or, Ziv; Fon, Edward A. 分享 收藏
The Parkinson's disease risk gene cathepsin B promotes fibrillar alpha-synuclein clearance, lysosomal function and glucocerebrosidase activity in dopaminergic neurons 帕金森氏病风险基因组织蛋白酶B促进多巴胺能神经元中纤维状 α-突触核蛋白清除,溶酶体功能和葡糖脑苷脂酶活性 Jones-Tabah, Jace; He, Kathy; Karpilovsky, Nathan; Senkevich, Konstantin; Deyab, Ghislaine; Pietrantonio, Isabella; Goiran, Thomas; Cousineau, Yuting; Nikanorova, Daria; Goldsmith, Taylor; del Cid Pellitero, Esther; Chen, Carol X. -Q.; Luo, Wen; You, Zhipeng; Abdian, Narges; Ahmad, Jamil; Ruskey, Jennifer A.; Asayesh, Farnaz; Spiegelman, Dan; Fahn, Stanley; Waters, Cheryl; Monchi, Oury; Dauvilliers, Yves; Dupre, Nicolas; Miliukhina, Irina; Timofeeva, Alla; Emelyanov, Anton; Pchelina, Sofya; Greenbaum, Lior; Hassin-Baer, Sharon; Alcalay, Roy N.; Milnerwood, Austen; Durcan, Thomas M.; Gan-Or, Ziv; Fon, Edward A. 分享 收藏
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Association of Rare Variants in ARSA with Parkinson's Disease Senkevich, Konstantin; Beletskaia, Mariia; Dworkind, Aliza; Yu, Eric; Ahmad, Jamil; Ruskey, Jennifer A.; Asayesh, Farnaz; Spiegelman, Dan; Fahn, Stanley; Waters, Cheryl; Monchi, Oury; Dauvilliers, Yves; Dupre, Nicolas; Greenbaum, Lior; Hassin-Baer, Sharon; Nagornov, Ilya; Tyurin, Alexandr; Miliukhina, Irina; Timofeeva, Alla; Emelyanov, Anton; Trempe, Jean-Francois; Zakharova, Ekaterina; Alcalay, Roy N.; Pchelina, Sofya; Gan-Or, Ziv 分享 收藏
Patterns of TDP-43 Deposition in Brains with LRRK2 G2019S Mutations 具有LRRK2 G2019S突变的大脑中的TDP-43沉积模式 Agin-Liebes, Julian; Hickman, Richard. A. A.; Vonsattel, Jean Paul; Faust, Phyllis. L. L.; Flowers, Xena; Sosunova, Irina Utkina; Ntiri, Joel; Mayeux, Richard; Surface, Matthew; Marder, Karen; Fahn, Stanley; Przedborski, Serge; Alcalay, Roy. N. N. 分享 收藏
Rare TMEM230 Variants are Potentially Associated With Early Onset Parkinson's Disease Senkevich, Konstantin; Yu, Eric; Rudakou, Uladzislau; Ahmad, Jamil; Ruskey, Jennifer; Asayesh, Farnaz; Spiegelman, Dan; Fahn, Stanley; Waters, Cheryl; Monchi, Oury; Dauvilliers, Yves; Dupre, Nicolas; Miliukhina, Irina; Timofeeva, Alla; Kulabukhova, Daria; Emelyanov, Anton; Pchelina, Sofya; Greenbaum, Lior; Hassin, Sharon; Alcalay, Roy; Gan-Or, Ziv 分享 收藏
Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort 拥抱单基因帕金森病: MJFF全球遗传PD队列 Vollstedt, Eva-Juliane; Schaake, Susen; Lohmann, Katja; Padmanabhan, Shalini; Brice, Alexis; Lesage, Suzanne; Tesson, Christelle; Vidailhet, Marie; Wurster, Isabel; Hentati, Faycel; Mirelman, Anat; Giladi, Nir; Marder, Karen; Waters, Cheryl; Fahn, Stanley; Kasten, Meike; Bruggemann, Norbert; Borsche, Max; Foroud, Tatiana; Tolosa, Eduardo; Garrido, Alicia; Annesi, Grazia; Gagliardi, Monica; Bozi, Maria; Stefanis, Leonidas; Ferreira, Joaquim J.; Guedes, Leonor Correia; Avenali, Micol; Petrucci, Simona; Clark, Lorraine; Fedotova, Ekaterina Y.; Abramycheva, Natalya Y.; Alvarez, Victoria; Menendez-Gonzalez, Manuel; Maestre, Silvia Jesus; Gomez-Garre, Pilar; Mir, Pablo; Belin, Andrea Carmine; Ran, Caroline; Lin, Chin-Hsien; Kuo, Ming-Che; Crosiers, David; Wszolek, Zbigniew K.; Ross, Owen A.; Jankovic, Joseph; Nishioka, Kenya; Funayama, Manabu; Clarimon, Jordi; Williams-Gray, Caroline H.; Camacho, Marta; Cornejo-Olivas, Mario; Torres-Ramirez, Luis; Wu, Yih-Ru; Lee-Chen, Guey-Jen; Morgadinho, Ana; Pulkes, Teeratorn; Termsarasab, Pichet; Berg, Daniela; Kuhlenbaumer, Gregor; Kuhn, Andrea A.; Borngraeber, Friederike; de Michele, Giuseppe; De Rosa, Anna; Zimprich, Alexander; Puschmann, Andreas; Mellick, George D.; Dorszewska, Jolanta; Carr, Jonathan; Ferese, Rosangela; Gambardella, Stefano; Chase, Bruce; Markopoulou, Katerina; Satake, Wataru; Toda, Tatsushi; Rossi, Malco; Merello, Marcelo; Lynch, Timothy; Olszewska, Diana A.; Lim, Shen-Yang; Ahmad-Annuar, Azlina; Tan, Ai Huey; Al-Mubarak, Bashayer; Hanagasi, Hasmet; Koziorowski, Dariusz; Ertan, Sibel; Genc, Gencer; Aguiar, Patricia de Carvalho; Barkhuizen, Melinda; Pimentel, Marcia M. G.; Saunders-Pullman, Rachel; van de Warrenburg, Bart; Bressman, Susan; Toft, Mathias; Appel-Cresswell, Silke; Lang, Anthony E.; Skorvanek, Matej; Boon, Agnita J. W.; Kruger, Rejko; Sammler, Esther M.; Tumas, Vitor; Zhang, Bao-Rong; Garraux, Gaetan; Chung, Sun Ju; Kim, Yun Joong; Winkelmann, Juliane; Sue, Carolyn M.; Tan, Eng-King; Damasio, Joana; Klivenyi, Peter; Kostic, Vladimir S.; Arkadir, David; Martikainen, Mika; Borges, Vanderci; Hertz, Jens Michael; Brighina, Laura; Spitz, Mariana; Suchowersky, Oksana; Riess, Olaf; Das, Parimal; Mollenhauer, Brit; Gatto, Emilia M.; Petersen, Maria Skaalum; Hattori, Nobutaka; Wu, Ruey-Meei; Illarioshkin, Sergey N.; Valente, Enza Maria; Aasly, Jan O.; Aasly, Anna; Alcalay, Roy N.; Thaler, Avner; Farrer, Matthew J.; Brockmann, Kathrin; Corvol, Jean-Christophe; Klein, Christine 分享 收藏
GALC variants affect galactosylceramidase enzymatic activity and risk of Parkinson's disease Senkevich, Konstantin; Zorca, Cornelia E.; Dworkind, Aliza; Rudakou, Uladzislau; Somerville, Emma; Yu, Eric; Ermolaev, Alexey; Nikanorova, Daria; Ahmad, Jamil; Ruskey, Jennifer A.; Asayesh, Farnaz; Spiegelman, Da; Fahn, Stanley; Waters, Cheryl; Monchi, Oury; Dauvilliers, Yves; Dupre, Nicolas; Greenbaum, Lior; Hassin-Baer, Sharon; Grenn, Francis P.; Chiang, Ming Sum Ruby; Sardi, S. Pablo; Vanderperre, Benoit; Blauwendraat, Cornelis; Trempe, Jean-Francois; Fon, Edward A.; Durcan, Thomas M.; Alcalay, Roy N.; Gan-Or, Ziv 分享 收藏
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies Dworschak, Gabriel C.; Punetha, Jaya; Kalanithy, Jeshurun C.; Mingardo, Enrico; Erdem, Haktan B.; Akdemir, Zeynep C.; Karaca, Ender; Mitani, Tadahiro; Marafi, Dana; Fatih, Jawid M.; Jhangiani, Shalini N.; Hunter, Jill V.; Dakal, Tikam Chand; Dhabhai, Bhanupriya; Dabbagh, Omar; Alsaif, Hessa S.; Alkuraya, Fowzan S.; Maroofian, Reza; Houlden, Henry; Efthymiou, Stephanie; Dominik, Natalia; Salpietro, Vincenzo; Sultan, Tipu; Haider, Shahzad; Bibi, Farah; Thiele, Holger; Hoefele, Julia; Riedhammer, Korbinian M.; Wagner, Matias; Guella, Ilaria; Demos, Michelle; Keren, Boris; Buratti, Julien; Charles, Perrine; Nava, Caroline; Heron, Delphine; Heide, Solveig; Valkanas, Elise; Waddell, Leigh B.; Jones, Kristi J.; Oates, Emily C.; Cooper, Sandra T.; MacArthur, Daniel; Syrbe, Steffen; Ziegler, Andreas; Platzer, Konrad; Okur, Volkan; Chung, Wendy K.; O'Shea, Sarah A.; Alcalay, Roy; Fahn, Stanley; Mark, Paul R.; Guerrini, Renzo; Vetro, Annalisa; Hudson, Beth; Schnur, Rhonda E.; Hoganson, George E.; Burton, Jennifer E.; McEntagart, Meriel; Lindenberg, Tobias; Yilmaz, Oeznur; Odermatt, Benjamin; Pehlivan, Davut; Posey, Jennifer E.; Lupski, James R.; Reutter, Heiko 分享 收藏
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LRRK2 p.M1646T is associated with glucocerebrosidase activity and with Parkinson's disease Sosero, Yuri L.; Yu, Eric; Krohn, Lynne; Rudakou, Uladzislau; Mufti, Kheireddin; Ruskey, Jennifer A.; Asayesh, Farnaz; Laurent, Sandra B.; Spiegelman, Dan; Fahn, Stanley; Waters, Cheryl; Sardi, S. Pablo; Bandres-Ciga, Sara; Alcalay, Roy N.; Gan-Or, Ziv; Senkevich, Konstantin 分享 收藏
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Neuropathological correlation supports automated image-based differential diagnosis in parkinsonism Schindlbeck, Katharina A.; Gupta, Deepak K.; Tang, Chris C.; O'Shea, Sarah A.; Poston, Kathleen L.; Choi, Yoon Young; Dhawan, Vijay; Vonsattel, Jean-Paul; Fahn, Stanley; Eidelberg, David 分享 收藏
Association study of DNAJC13, UCHL1, HTRA2, GIGYF2, and EIF4G1 with Parkinson's disease Saini, Prabhjyot; Rudakou, Uladzislau; Yu, Eric; Ruskey, Jennifer A.; Asayesh, Farnaz; Laurent, Sandra B.; Spiegelman, Dan; Fahn, Stanley; Waters, Cheryl; Monchi, Oury; Dauvilliers, Yves; Dupre, Nicolas; Greenbaum, Lior; Hassin-Baer, Sharon; Espay, Alberto J.; Rouleau, Guy A.; Alcalay, Roy N.; Fon, Edward A.; Postuma, Ronald B.; Gan-Or, Ziv 分享 收藏
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Targeted sequencing of Parkinson's disease loci genes highlights SYT11, FGF20 and other associations Rudakou, Uladzislau; Yu, Eric; Krohn, Lynne; Ruskey, Jennifer A.; Asayesh, Farnaz; Dauvilliers, Yves; Spiegelman, Dan; Greenbaum, Lior; Fahn, Stanley; Waters, Cheryl H.; Dupre, Nicolas; Rouleau, Guy A.; Hassin-Baer, Sharon; Fon, Edward A.; Alcalay, Roy N.; Gan-Or, Ziv 分享 收藏
Analysis of HeterozygousPRKNVariants and Copy-Number Variations in Parkinson's Disease Yu, Eric; Rudakou, Uladzislau; Krohn, Lynne; Mufti, Kheireddin; Ruskey, Jennifer A.; Asayesh, Farnaz; Estiar, Mehrdad A.; Spiegelman, Dan; Surface, Matthew; Fahn, Stanley; Waters, Cheryl H.; Greenbaum, Lior; Espay, Alberto J.; Dauvilliers, Yves; Dupre, Nicolas; Rouleau, Guy A.; Hassin-Baer, Sharon; Fon, Edward A.; Alcalay, Roy N.; Gan-Or, Ziv 分享 收藏