日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Pathogenic or Likely Pathogenic GRN Variants Are Found in 0.1% of Parkinson's Disease Patients

致病性或可能致病性的GRN变异体在0.1%的帕金森病患者中被发现。

Ganoza, Christian A; Westenberger, Ana; Paul, Jefri J; Curado, Filipa; Rennecke, Jörg; Mannepalli, Sumanth; Zonic, Emir; Saravanakumar, Deepa; Paknia, Omid; Al-Ali, Ruslan; Laabs, Björn-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

Lack of association between G6PD variants and Parkinson disease

G6PD变异与帕金森病之间缺乏关联

Chifamba, Leah V; Parlar, Sitki Cem; Liu, Lang; Sokol, Leonard L; Yu, Eric; Asayesh, Farnaz; Ahmad, Jamil; Ruskey, Jennifer A; Spiegelman, Dan; Waters, Cheryl; Monchi, Oury; Dauvilliers, Yves; Dupré, Nicolas; Timofeeva, Alla; Emelyanov, Anton; Pchelina, Sofya; Miliukhina, Irina; Greenbaum, Lior; Hassin-Baer, Sharon; Alcalay, Roy N; Espay, Alberto J; Gan-Or, Ziv; Senkevich, Konstantin

Rare-variant burden across lysosomal genes implicates sialylation and ganglioside metabolism in Parkinson's disease

溶酶体基因中罕见变异负荷表明唾液酸化和神经节苷脂代谢与帕金森病有关

Senkevich, Konstantin; Parlar, Sitki Cem; Chantereault, Cloe; Liu, Lang; Yu, Eric; Rudakou, Uladzislau; Ahmad, Jamil; Ruskey, Jennifer A; Asayesh, Farnaz; Spiegelman, Dan; Waters, Cheryl; Monchi, Oury; Dauvilliers, Yves; Dupré, Nicolas; Greenbaum, Lior; Hassin-Baer, Sharon; Miliukhina, Irina; Timofeeva, Alla; Emelyanov, Anton; Pchelina, Sofya; Alcalay, Roy N; Gan-Or, Ziv

The GBA1 p.E427K (p.E388K) Variant is a Risk Factor for Synucleinopathies: A Meta-Analysis

GBA1 p.E427K (p.E388K) 变异是突触核蛋白病的一个风险因素:一项荟萃分析

Chifamba, Leah V; Parlar, Sitki Cem; Somerville, Emma N; Liu, Lang; Yu, Eric; Asayesh, Farnaz; Ahmad, Jamil; Teferra, Meron; Ruskey, Jennifer A; Waters, Cheryl; Monchi, Oury; Dauvilliers, Yves; Dupré, Nicolas; Timofeeva, Alla; Emelyanov, Anton; Pchelina, Sofya; Miliukhina, Irina; Greenbaum, Lior; Hassin-Baer, Sharon; Goldstein, Orly; Radefeldt, Mandy; Bauer, Peter; Beetz, Christian; Dilliott, Allison A; Beck, James C; Senkevich, Konstantin; Klein, Christine; Alcalay, Roy N; Gan-Or, Ziv

LRRK2 rare-variant per-domain genetic burden in Parkinson's Disease: association confined to the kinase domain

LRRK2罕见变异体在帕金森病中的遗传负担:关联仅限于激酶结构域

Parlar, Sitki Cem; Senkevich, Konstantin; Yu, Eric; Ruskey, Jennifer A; Ahmad, Jamil; Asayesh, Farnaz; Spiegelman, Dan; Waters, Cheryl; Monchi, Oury; Dauvilliers, Yves; Dupré, Nicolas; Greenbaum, Lior; Hassin-Baer, Sharon; Miliukhina, Irina; Timofeeva, Alla; Emelyanov, Anton; Pchelina, Sofya; Alcalay, Roy N; Fon, Edward A; Trempe, Jean-François; Gan-Or, Ziv

The modifying effect of mutant LRRK2 on mutant GBA1-associated Parkinson disease.

突变型 LRRK2 对突变型 GBA1 相关帕金森病的影响

Serebryany-Piavsky Vera, Egulsky Lian, Manoim-Wolkovitz Julia Elia, Anis Saar, Hassin-Baer Sharon, Parnas Moshe, Horowitz Mia

Is the Subthalamic Nucleus Sleeping Under Nitrous Oxide-Ketamine General Anesthesia?

在笑气-氯胺酮全身麻醉下,丘脑底核是否处于睡眠状态?

Erdman, Halen Baker; Bergman, Hagai; Haya, Karin Abu; Glowinsky, Stefanie; Warhaftig, Lotem; León, Juan F; Israel, Zvi; Snineh, Muneer Abu; Kornilov, Evgeniya; Zarchi, Omer; Tamir, Idit; Reiner, Johnathan; Fay-Karmon, Tsvia; Hassin-Baer, Sharon; Glauber, Violeta; Nir, Tomer; Asprilla González, José Antonio; Ungar, Lior; Zibly, Zion

The Parkinson's disease risk gene cathepsin B promotes fibrillar alpha-synuclein clearance, lysosomal function and glucocerebrosidase activity in dopaminergic neurons

帕金森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-突触核蛋白的清除、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; Dupré, 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

Correction: The Parkinson's disease risk gene cathepsin B promotes fibrillar alpha-synuclein clearance, lysosomal function and glucocerebrosidase activity in dopaminergic neurons

更正:帕金森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-突触核蛋白的清除、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; Dupré, 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

Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson's disease study

基因检测在基因靶向试验时代的重要性:罗斯托克帕金森病研究

Westenberger, Ana; Skrahina, Volha; Usnich, Tatiana; Beetz, Christian; Vollstedt, Eva-Juliane; Laabs, Björn-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; Araújo, 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; de Carvalho Aguiar, Patricia; De Rosa, Anna; Djaldetti, Ruth; Dogu, Okan; Dos Santos Ghilardi, Maria Gabriela; Eggers, Carsten; Elibol, Bulent; Ellenbogen, Aaron; Ertan, Sibel; Fabiani, Giorgio; Falkenburger, Björn H; Farrow, Simon; Fay-Karmon, Tsviya; Ferencz, Gerald J; Fonoff, Erich Talamoni; Fragoso, Yara Dadalti; Genç, Gençer; Gorospe, Arantza; Grandas, Francisco; Gruber, Doreen; Gudesblatt, Mark; Gurevich, Tanya; Hagenah, Johann; Hanagasi, Hasmet A; Hassin-Baer, Sharon; Hauser, Robert A; Hernández-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; Kuhlenbäumer, Gregor; Kühn, Andrea; Litvan, Irene; López-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; Öztop-Çakmak, Özgür; Pal, Gian; Pavese, Nicola; Percesepe, Antonio; Piccoli, Tommaso; Pinto de Souza, Carolina; Prell, Tino; Pulera, Mark; Raw, Jason; Reetz, Kathrin; Reiner, Johnathan; Rosenberg, David; Ruiz-Lopez, Marta; Ruiz Martinez, Javier; Sammler, Esther; Santos-Lobato, Bruno Lopes; Saunders-Pullman, Rachel; Schlesinger, Ilana; Schofield, Christine M; Schumacher-Schuh, Artur F; Scott, Burton; Sesar, Ángel; Shafer, Stuart J; Sheridan, Ray; Silverdale, Monty; Sophia, Rani; Spitz, Mariana; Stathis, Pantelis; Stocchi, Fabrizio; Tagliati, Michele; Tai, Yen F; Terwecoren, Annelies; Thonke, Sven; Tönges, 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; Brüggemann, Norbert; Rolfs, Arndt; Klein, Christine; Bauer, Peter