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

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

Genome-wide association study of REM sleep behavior disorder in Parkinson's disease

帕金森病快速眼动睡眠行为障碍的全基因组关联研究

Sosero, Yuri L; Heilbron, Karl; Fontanillas, Pierre; Norcliffe-Kaufmann, Lucy; Yu, Eric; Rudakou, Uladzislau; Ruskey, Jennifer A; Freeman, Kathryn; Asayesh, Farnaz; Brolin, Kajsa A; Swanberg, Maria; Morris, Huw R; Wu, Lesley; Real, Raquel; Pihlstrøm, Lasse; Tan, Manuela; Gasser, Thomas; Brockmann, Kathrin; Liu, Hui; Hu, Michele T M; Grosset, Donald G; Lewis, Simon J G; Kwok, John B; Pastor, Pau; Alvarez, Ignacio; Skorvanek, Matej; Lackova, Alexandra; Ostrozovicova, Miriam; Rizig, Mie; Krohn, Lynne; Gan-Or, Ziv

Lack of epistatic interaction of SNCA with APOE in synucleinopathies

突触核蛋白病中SNCA与APOE缺乏上位性相互作用

Saini, Prabhjyot; Yu, Eric; Estiar, Mehrdad A; Krohn, Lynne; Mufti, Kheireddin; Rudakou, Uladzislau; Ruskey, Jennifer A; Asayesh, Farnaz; Laurent, Sandra B; Spiegelman, Dan; Arnulf, Isabelle; Montplaisir, Jacques Y; Gagnon, Jean-François; Desautels, Alex; Dauvilliers, Yves; Gigli, Gian Luigi; Valente, Mariarosaria; Janes, Francesco; Bernardini, Andrea; Šonka, Karel; Kemlink, David; Oertel, Wolfgang H; Kaivola, Karri; Janzen, Annette; Plazzi, Giuseppe; Antelmi, Elena; Biscarini, Francesco; Figorilli, Michela; Puligheddu, Monica; Mollenhauer, Brit; Trenkwalder, Claudia; Sixel-Döring, Friederike; Cochen De Cock, Valérie; Monaca, Christelle Charley; Heidbreder, Anna; Ferini-Strambi, Luigi; Dijkstra, Femke; Viaene, Mineke; Abril, Beatriz; Boeve, Bradley F; Postuma, Ronald B; Rouleau, Guy A; Anselmi, Victoria; Ibrahim, Abubaker; Stefani, Ambra; Högl, Birgit; Hu, Michele T M; Scholz, Sonja W; Gan-Or, Ziv

Genome-Wide Association Study of Glucocerebrosidase Activity Modifiers

全基因组关联研究:葡萄糖脑苷脂酶活性调节因子

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

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

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

帕金森病风险基因蛋白酶B促进多巴胺能神经元中的纤维状α-突触核蛋白清除、溶酶体功能和葡萄糖脑苷脂酶活性

Jace Jones-Tabah, Kathy He, Nathan Karpilovsky, Konstantin Senkevich, Ghislaine Deyab, Isabella Pietrantonio, Thomas Goiran, Yuting Cousineau, Daria Nikanorova, Taylor Goldsmith, Esther Del Cid Pellitero, Carol X-Q Chen, Wen Luo, Zhipeng You, Narges Abdian, Jamil Ahmad, Jennifer A Ruskey, Farnaz Asa

Are rare heterozygous SYNJ1 variants associated with Parkinson's disease?

罕见的杂合SYNJ1变异与帕金森病有关吗?

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