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

N-acetyl-l-leucine lowers α-synuclein levels and improves synaptic function in Parkinson's disease models.

N-乙酰-L-亮氨酸可降低α-突触核蛋白水平,并改善帕金森病模型中的突触功能。

Song Pingping, Chen Chuyu, Franchini Rossella, Duong Bryan, Wang Yi-Zhi, Coukos Robert, Xie Zhong, Savas Jeffrey N, Zhou Yueqin, Bertoldi Mariarita, Surmeier D James, Parisiadou Loukia, Krainc Dimitri

A STOP-Gain RNF213 Variant Causes Chorea, Stroke-Like Episodes, and Leigh Syndrome-Like Encephalopathy

STOP-Gain RNF213 变异体导致舞蹈症、中风样发作和莱氏综合征样脑病

Bovenzi, Roberta; Severino, Mariasavina; Nichols, Jennifer; Shen, Fred; Keller Sarmiento, Ignacio J; Bustos, Bernabe I; Kinsley, Lisa; Krainc, Dimitri; Mencacci, Niccolò E

Ubiquitin ligase Nedd4 regulates the abundance and toxicity of mutant huntingtin.

泛素连接酶 Nedd4 调节突变亨廷顿蛋白的丰度和毒性。

Jeong Hyunkyung, Qin Yiyang, Xu Fangke, Trajkovic Katarina, Kim Myung Jong, Marotta Nicolas, Hamada Kana, Allada Ravi, Yang Su, Krainc Dimitri

In Vivo Screen of Parkinson's Disease GWAS Risk Genes Identifies ARIH2 as a Novel Regulator of α-Synuclein Toxicity in Dopaminergic Neurons

帕金森病全基因组关联研究风险基因的体内筛选发现ARIH2是多巴胺能神经元中α-突触核蛋白毒性的新型调节因子

Armakola, Maria; Wilen, Anika P; Bustos, Bernabe I; Song, Pingping; Wang, Yi-Zhi; Thomas, Adeyemi K; Belur, Nandkishore R; Mazzulli, Joseph R; Savas, Jeffrey N; Kalb, Robert G; Krainc, Dimitri

The role of parkin in monkey

帕金蛋白在猴子中的作用

Zhang, Shuyan; Zhang, Mengwei; Xu, Shimeng; Fu, Xiaochuan; Liao, Qiumin; Pan, Bin; Cui, Liujuan; Liu, Pingsheng; Song, Pingping; Krainc, Dimitri

Genome-wide epistasis analysis reveals significant epistatic signals associated with Parkinson's disease risk

全基因组上位性分析揭示了与帕金森病风险相关的显著上位性信号

Cisterna-Garcia, Alejandro; Bustos, Bernabe I; Bandres-Ciga, Sara; Leal, Thiago P; Sarihan, Elif I; Jok, Christie; Krainc, Dimitri; Mata, Ignacio F; Lubbe, Steven J; Botia, Juan A

The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series

与NUS1致病变异相关的神经系统表型谱:一项综合病例系列研究

Brooker, Sarah M; Novelli, Maria; Coukos, Robert; Prakash, Neha; Kamel, Walaa A; Amengual-Gual, Marta; Anheim, Mathieu; Barcia, Giulia; Bardakjian, Tanya; Baur, Franciska; Berweck, Steffen; Bölsterli, Bigna K; Brugger, Melanie; Cassini, Thomas; Chatron, Nicolas; Corner, Brian; Dafsari, Hormos Salimi; de Sainte Agathe, Jean-Madeleine; Ellis, Colin A; Ezell, Kimberly M; Foucard, Cendrine; Frucht, Steven J; Garcia, Maria C; Gill, Deepak; Guimier, Anne; Hamid, Rizwan; Heine-Suñer, Damià; Herkenrath, Peter; Hully, Marie; Isaias, Ioannis U; Januel, Louis; Laurencin, Chloe; Laut, Taylor; Lavillaureix, Alinoe; Lesca, Gaetan; Lesieur-Sebellin, Marion; Magistrelli, Luca; Marelli, Cecilia; Mefford, Heather C; Mendelsohn, Bryce A; Mercimek-Andrews, Saadet; Miller, Claire; Mohammad, Shekeeb S; Morgante, Francesca; Nandipati, Sirisha; Opladen, Thomas; Padmanaban, Mahesh; Pauni, Micaela; Pezzoli, Gianni; Piton, Amelie; Ramond, Francis; Riboldi, Giulietta M; Rougeot-Jung, Christelle; Santos-Simarro, Fernando; Scheffer, Ingrid E; Serari, Naoual; Stahl, Christine M; Kung, Ann Stembridge; Tarongí Sanchez, Susana; Thauvin-Robinet, Christel; Till, Marianne; Tranchant, Christine; Troedson, Christopher; Tropea, Thomas F; Vanakker, Olivier; Vega, Patricia; Wiese, Maxi Leona; Wieshmann, Udo; Williams, Laura J; Wirth, Thomas; Zech, Michael; Zempel, Hans; Roze, Emmanuel; Leuzzi, Vincenzo; Galosi, Serena; Fung, Victor S C; Carvill, Gemma; Krainc, Dimitri; Gerard, Elizabeth; Mencacci, Niccolò E

Novel In-Frame FGF14 Deletion Causes Spinocerebellar Ataxia Type 27A: Clinical Response to Deep Brain Stimulation and 4-Aminopyridine

新型框内FGF14缺失导致27A型脊髓小脑性共济失调:深部脑刺激和4-氨基吡啶的临床疗效

Keller Sarmiento, Ignacio J; Bovenzi, Roberta; Kinsinger, Morgan; Kinsley, Lisa; Bustos, Bernabe I; Krainc, Dimitri; Mencacci, Niccolò E

SEX DIFFERENCES IN THE REDUCTION OF HOPELESSNESS IN Μ OPIOID RECEPTOR DEFICIENT MICE BY ADDITIVE EFFECTS OF Δ OPIOID RECEPTOR AGONISTS

Δ阿片受体激动剂的叠加效应对M型阿片受体缺陷小鼠绝望感降低的性别差异

Khani, Marzieh; Yeboah, Sheila N; Cerquera-Cleves, Catalina; Kedmi, Alexandra; Bustos, Bernabe I; Grant, Spencer M; Akerman, Suleyman Can; Akçimen, Fulya; Lee, Paul Suhwan; Reyes-Pérez, Paula; Lange, Lara M; Leonard, Hampton; Koretsky, Mathew J; Makarious, Mary B; Schneider, Zachary; Jonson, Caroline; Chen, Pin-Shiuan; Tay, Yi Wen; Rothstein, Jeffrey D; Lin, Chin-Hsien; Lim, Shen-Yang; Klein, Christine; Merchant, Kalpana; Mencacci, Niccolò E; Krainc, Dimitri; Cookson, Mark R; Singleton, Andrew; Bandres-Ciga, Sara; Moriya, *Yuki; Kasahara, Yoshiyuki; Shimada, Masafumi; Sakakibara, Yasufumi; Fujii, Hideaki; Nagase, Hiroshi; Ide, Soichiro; Ikeda, Kazutaka; Hall, Frank Scott; Uhl, George R; Sora, Ichiro

Adult-Onset BPAN: An Atypical Presentation Mimicking Early-Onset Parkinson's Disease

成人起病型BPAN:一种类似早发性帕金森病的非典型表现

Monje, Mariana H G; Vittal, Padmaja; Keller Sarmiento, Ignacio Juan; Kinsley, Lisa; Krainc, Dimitri; Mencacci, Niccolò E