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

Broadening the Phenotypic Spectrum of MAFB-Related Disease: Renal, Auricular, Ocular, and Nervous System Involvement

扩大MAFB相关疾病的表型谱:肾脏、耳部、眼部和神经系统受累

Eliyahu, Aviva; Atias-Varon, Danit; Barel, Ortal; Khavkin, Yulia; Pras, Elon; Reznik-Wolf, Haike; Chorin, Odelia; Poleg, Tomer; Biller, Ari; Beckerman, Pazit; Abu-Amer, Nabil; Wygnanski-Jaffe, Tamara; Greenbaum, Lior; Vivante, Asaf; Krause, Irit

Detection of the Heterozygous Recurrent MAX p.(Arg60Gln) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly-Macrocephaly Syndrome

在两名女性中检测到杂合复发性 MAX p.(Arg60Gln) 变异,证实并扩展了多指-巨头综合征的表型谱。

Showpnil, Iftekhar A; Feinstein-Goren, Neta; Greenbaum, Lior; Barel, Ortal; Koboldt, Daniel C; Brugmann, Samantha A; Weaver, Kathryn Nicole; Slavotinek, Anne; Pode-Shakked, Ben; Stottmann, Rolf W

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

Hereditary Transthyretin Amyloidosis in Israel: Genetic Landscape and Clinical Characteristics

以色列遗传性转甲状腺素蛋白淀粉样变性:遗传图谱和临床特征

Dori, Amir; Chorin, Odelia; Ruhrman-Shahar, Noa; Fellner, Avi; Alon, Tayir; Reznik-Wolf, Haike; Barel, Ortal; Fourey, Dana; Zadok, Osnat Itzhaki Ben; Aviv, Yaron; Nikitin, Vera; Ben-David, Merav; Shavit-Stein, Efrat; Goldis, Rivka; Kaplan, Batia; Shapiro, Daniela; Pras, Elon; Pollak, Arthur; Meiner, Vardiella; Arad, Michael; Greenbaum, Lior

Clinical profiling and medical management of Israeli individuals with Phelan McDermid syndrome

对患有费兰-麦克德米德综合征的以色列患者进行临床特征分析和医疗管理

Chorin, Odelia; Greenbaum, Lior; Lev-Hochberg, Shelly; Feinstein-Goren, Neta; Eliyahu, Aviva; Shani, Hagit; Pras, Elon; Weissbach, Tal; Bolkier, Yoav; Heimer, Gali; Lev, Dorit; Michelson, Marina; Regev, Miriam; Josefsberg, Sagi; Batzir, Nurit Assia; Shalata, Adel; Spiegel, Ronen; Segel, Reeval; Lobel, Orit; Abu-Libdeh, Bassam; Shohat, Mordechai; Frydman, Moshe; Hady-Cohen, Ronen; Pode-Shakked, Ben; Rein-Rothschild, Annick

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