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S

Steven J. Frucht

department of neurology
H指数:60
被引数:1.2万

个人简介

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荣誉奖项

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RRP12 Variants Are Associated With Autosomal Recessive Brain Calcifications

RRP12 变体与常染色体隐性脑钙化相关

Movement Disorders
IF7.6
2025-10-080
OAAI
Edoardo Monfrini MD, PhD; Paola Rinchetti PhD; Mathieu Anheim MD, PhD; Anna Klingseisen PhD; Ouhaid Lagha-Boukbiza MD; Zhidong Cen MD, PhD; Dehao Yang MD, PhD; Xinhui Chen MD; Reza Maroofian PhD; Henry Houlden MD, PhD, FRCP, FRCPath, FMedSci; Gioia Cappelletti PhD; Anne-Claire Richard BS; Olivier Quenez PhD; Camilo Toro MD; Steven J. Frucht MD; Francesco Lotti PhD; Wei Luo MD, PhD; David Hunt MD, PhD; Gael Nicolas MD, PhD; Giulietta M. Riboldi MD, PhD
The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series

与NUS1致病性变异相关的神经表型谱：一项综合性病例系列研究

Annals of Neurology
IF7.7
2025-07-010
OAAI
Sarah M. Brooker MD, PhD; Maria Novelli MD; Robert Coukos PhD; Neha Prakash MBBS; Walaa A. Kamel MD; Marta Amengual-Gual MD; Mathieu Anheim MD, PhD; Giulia Barcia MD, PhD; Tanya Bardakjian MS; Franciska Baur MD; Steffen Berweck MD; Bigna K. Bölsterli MD; Melanie Brugger MD; Thomas Cassini MD; Nicolas Chatron MD; Brian Corner MS; Hormos Salimi Dafsari MD; Jean-Madeleine de Sainte Agathe MD; Colin A. Ellis MD; Kimberly M. Ezell APRN, FNP; Cendrine Foucard MD; Steven J. Frucht MD; Maria C. Garcia MBBS; Deepak Gill MBBS, FRACP; Anne Guimier MD; Rizwan Hamid MD, PhD; Damià Heine-Suñer PhD; Peter Herkenrath MD; Marie Hully MD; Ioannis U. Isaias MD, PhD; Louis Januel MD; Chloe Laurencin MD; Taylor Laut MS; Alinoe Lavillaureix MD; Gaetan Lesca MD, PhD; Marion Lesieur-Sebellin MD; Luca Magistrelli MD, PhD; Cecilia Marelli MD, PhD; Heather C. Mefford MD, PhD; Bryce A. Mendelsohn MD; Saadet Mercimek-Andrews MD, PhD; Claire Miller MD, PhD; Shekeeb S. Mohammad MBBS, PhD, FRACP; Francesca Morgante MD, PhD; Sirisha Nandipati MD; Thomas Opladen MD; Mahesh Padmanaban MD; Micaela Pauni MD; Gianni Pezzoli MD; Amelie Piton PhD; Francis Ramond MD, PhD; Giulietta M. Riboldi MD, PhD; Christelle Rougeot-Jung MD; Fernando Santos-Simarro MD, PhD; Ingrid E. Scheffer MBBS, PhD; Naoual Serari M2; Christine M. Stahl MD; Ann Stembridge Kung MS; Susana Tarongí Sanchez MD; Christel Thauvin-Robinet MD, PhD; Marianne Till MD; Christine Tranchant MD, PhD; Christopher Troedson MBBS, FRACP; Thomas F. Tropea DO, MPH; Olivier Vanakker MD, PhD; Patricia Vega MD; Maxi Leona Wiese MD; Udo Wieshmann MD, PhD, FRCP; Laura J. Williams MB BCh BAO, MD; Thomas Wirth MD; Michael Zech MD; Hans Zempel MD, PhD; Emmanuel Roze MD, PhD; Vincenzo Leuzzi MD; Serena Galosi MD, PhD; Victor S. C. Fung PhD, FRACP; Gemma Carvill PhD; Dimitri Krainc MD, PhD; Elizabeth Gerard MD; Niccolò E. Mencacci MD, PhD
The α-synuclein seed amplification assay: Interpreting a test of Parkinson's pathology

Α-突触核蛋白种子扩增测定: 解释帕金森病病理的测试

PARKINSONISM & RELATED DISORDERS
IF3.4
2025-02-010
PRE
Espay, Alberto J.; Lees, Andrew J.; Cardoso, Francisco; Frucht, Steven J.; Erskine, Daniel; Sandoval, Ivette M.; Bernal-Conde, Luis Daniel; Sturchio, Andrea; Imarisio, Alberto; Hoffmann, Christian; Montemagno, Kora T.; Milovanovic, Dragomir; Halliday, Glenda M.; Manfredsson, Fredric P.
Transcriptome deregulation of peripheral monocytes and whole blood in GBA-related Parkinson's disease
MOLECULAR NEURODEGENERATION
IF17.5
2022-08-1716
OAAI
Riboldi, Giulietta Maria; Vialle, Ricardo A.; Navarro, Elisa; Udine, Evan; Lopes, Katia de Paiva; Humphrey, Jack; Allan, Amanda; Parks, Madison; Henderson, Brooklyn; Astudillo, Kelly; Argyrou, Charalambos; Zhuang, Maojuan; Sikder, Tamjeed; Narcis, J. Oriol; Kumar, Shilpa Dilip; Janssen, William; Sowa, Allison; Comi, Giacomo P.; Di Fonzo, Alessio; Crary, John F.; Frucht, Steven J.; Raj, Towfique
17q21.31 sub-haplotypes underlying H1-associated risk for Parkinson's disease are associated with LRRC37A/2 expression in astrocytes
MOLECULAR NEURODEGENERATION
IF17.5
2022-07-1520
OAAI
Bowles, Kathryn R.; Pugh, Derian A.; Liu, Yiyuan; Patel, Tulsi; Renton, Alan E.; Bandres-Ciga, Sara; Gan-Or, Ziv; Heutink, Peter; Siitonen, Ari; Bertelsen, Sarah; Cherry, Jonathan D.; Karch, Celeste M.; Frucht, Steven J.; Kopell, Brian H.; Peter, Inga; Park, Y. J.; Charney, Alexander; Raj, Towfique; Crary, John F.; Goate, A. M.
Dysregulation of mitochondrial and proteolysosomal genes in Parkinson's disease myeloid cells
NATURE AGING
IF19.4
2021-09-1421
OA
Navarro, Elisa; Udine, Evan; Lopes, Katia de Paiva; Parks, Madison; Riboldi, Giulietta; Schilder, Brian M.; Humphrey, Jack; Snijders, Gijsje J. L.; Vialle, Ricardo A.; Zhuang, Maojuan; Sikder, Tamjeed; Argyrou, Charalambos; Allan, Amanda; Chao, Michael J.; Farrell, Kurt; Henderson, Brooklyn; Simon, Sarah; Raymond, Deborah; Elango, Sonya; Ortega, Roberto A.; Shanker, Vicki; Swan, Matthew; Zhu, Carolyn W.; Ramdhani, Ritesh; Walker, Ruth H.; Tse, Winona; Sano, Mary; Pereira, Ana C.; Ahfeldt, Tim; Goate, Alison M.; Bressman, Susan; Crary, John F.; de Witte, Lotje; Frucht, Steven; Saunders-Pullman, Rachel; Raj, Towfique
Tolerability and Efficacy of Customized IncobotulinumtoxinA Injections for Essential Tremor: A Randomized, Double-Blind, Placebo-Controlled Study

定制的IncobotulinumtoxinA注射剂治疗原发性震颤的耐受性和有效性: 一项随机，双盲，安慰剂对照研究

TOXINS
IF4
2020-12-2013
OAAI
Jog, Mandar; Lee, Jack; Scheschonka, Astrid; Chen, Robert; Ismail, Farooq; Boulias, Chris; Hobson, Douglas; King, David; Althaus, Michael; Simon, Olivier; Dersch, Hanna; Frucht, Steven; Simpson, David M.

研究方向

暂未获取到该数据
S
Stanley Fahn
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R
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B
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C
Cheryl Waters
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H
Howard Andrews
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H
Helen Mejia‐Santana
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K
Karen Marder
H 指数:112论文数:814被引数:4.7万
D
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H 指数:98论文数:514被引数:3.1万
E
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H 指数:86论文数:839被引数:2.9万
E
Elan D. Louis
H 指数:59论文数:347被引数:1.0万