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

Integrated Stress Response Signatures Drive Monocyte Dysfunction in GBA1- and LRRK2-Linked Parkinson's Disease

整合应激反应特征驱动GBA1和LRRK2相关帕金森病中的单核细胞功能障碍

Mattei, Daniele; Brophy, Erica; Rosen, Mikaela; Majos, Oriol Narcis; Domingo, Aloysius; Meijia, Elena; De Sanctis, Claudia; Jang, Beomjin; Khashan, Tarek; Yang, Mengxi; Raymond, Deborah; Young, Casey; Humphrey, Jack; Navarro, Elisa; Allan, Amanda; Leaver, Katherine; Katsnelson, Viktoriya; Chung, Alexander; Muller, Benjamin; Swan, Matthew; Shanker, Vicki L; Pullman, Mariel; Wise, Adina Wise Adina; Ortega, Roberto; Astudillo, Kelly; Frucht, Steven; Bressman, Susan; Riboldi, Giulietta; Ozelius, Laurie J; Saunders-Pullman, Rachel; Raj, Towfique

Efficacy and Safety of Sodium Oxybate in Isolated Focal Laryngeal Dystonia: A Phase IIb Double-Blind Placebo-Controlled Cross-Over Randomized Clinical Trial

羟丁酸钠治疗孤立性局灶性喉肌张力障碍的疗效和安全性:一项IIb期双盲安慰剂对照交叉随机临床试验

Simonyan, Kristina; O'Flynn, Lena C; Hamzehei Sichani, Azadeh; Frucht, Steven J; Rumbach, Anna F; Sharma, Nutan; Song, Phillip C; Worthley, Alexis

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

RRP12 Variants Are Associated With Autosomal Recessive Brain Calcifications

RRP12 变异与常染色体隐性遗传性脑钙化有关

Monfrini, Edoardo; Rinchetti, Paola; Anheim, Mathieu; Klingseisen, Anna; Lagha-Boukbiza, Ouhaid; Cen, Zhidong; Yang, Dehao; Chen, Xinhui; Maroofian, Reza; Houlden, Henry; Cappelletti, Gioia; Richard, Anne-Claire; Quenez, Olivier; Toro, Camilo; Frucht, Steven J; Lotti, Francesco; Luo, Wei; Hunt, David; Nicolas, Gael; Riboldi, Giulietta M

Refutation of the αSyn-SAA-Based Staging for Parkinson's Progression (Neuronal α-Synuclein Disease-Integrated Staging System [NSD-ISS])

对基于 αSyn-SAA 的帕金森病进展分期(神经元 α-突触核蛋白疾病综合分期系统 [NSD-ISS])的反驳

Espay, Alberto J; Cardoso, Francisco; Frucht, Steven J; Imarisio, Alberto; Halliday, Glenda M; Lees, Andrew J

Repeat Expansions with Small TTTCA Insertions in MARCHF6 Cause Familial Myoclonus without Epilepsy

MARCHF6基因中重复扩增并插入少量TTTCA片段会导致家族性肌阵挛,但不伴有癫痫。

Kühnel, Theresa; Leitão, Elsa; Lunzer, Renate; Kilpert, Fabian; Kaya, Sabine; Del Gamba, Claudia; Astudillo, Kelly; Frucht, Steven; Simonetta-Moreau, Marion; Bieth, Eric; Unterberger, Iris; Riboldi, Giulietta Maria; Depienne, Christel

A new STAT3-based potency assay for human G-CSF analog therapeutics

一种基于STAT3的新型人G-CSF类似物疗法效力检测方法

Tao Xie ,Weiming Ouyang ,Yaqin Zhang ,Phillip Angart ,Patrick J Lynch ,David M Frucht

Integrated Stress Response Signatures Drive Monocyte Dysfunction in GBA1- and LRRK2-Linked Parkinson's Disease

整合应激反应特征驱动GBA1和LRRK2相关帕金森病中的单核细胞功能障碍

Mattei, Daniele; Brophy, Erica; Rosen, Mikaela; Majos, Oriol Narcis; Domingo, Aloysius; Meijia, Elena; Jang, Beomjin; Khashan, Tarek; Yang, Mengxi; Raymond, Deborah; Young, Casey; Humphrey, Jack; Navarro, Elisa; Allan, Amanda; Leaver, Katherine; Katsnelson, Viktoriya; Chung, Alexander; Muller, Benjamin; Swan, Matthew; Shanker, Vicki L; Pullman, Mariel; Wise, Adina; Ortega, Roberto; Astudillo, Kelly; Frucht, Steven; Bressman, Susan; Riboldi, Giulietta; Ozelius, Laurie J; Saunders-Pullman, Rachel; Raj, Towfique

Deep Phenotyping of Musicians' Upper Limb Dystonia

音乐家上肢肌张力障碍的深度表型分析

Frucht, Steven J

Single-cell transcriptomic and neuropathologic analysis reveals dysregulation of the integrated stress response in progressive supranuclear palsy

单细胞转录组学和神经病理学分析揭示进行性核上性麻痹中综合应激反应失调

Kristen Whitney, Won-Min Song, Abhijeet Sharma, Diana K Dangoor, Kurt Farrell, Margaret M Krassner, Hadley W Ressler, Thomas D Christie, Shrishtee Kandoi, Ruth H Walker, Melissa J Nirenberg, Steven J Frucht, Giulietta M Riboldi, Bin Zhang, Ana C Pereira, John F Crary4