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S

Simona Bianconi

national institutes of health (nih) - usa
H指数:17
被引数:1,611

个人简介

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教育背景

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工作经历

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荣誉奖项

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Longitudinal Characterization of Males With X-Linked Creatine Transporter Deficiency: Final Results of a Multiyear Observational Study

X连锁肌酸转运蛋白缺乏症男性患者的纵向特征分析：多年观察研究的最终结果

Pediatric Neurology
IF2.1
2025-11-010
OAAI
Miller, Judith S.; Farmer, Cristan; Blair, Susan; Bianconi, Simona; Akshoomoff, Natacha; Anselm, Irina; Barshop, Bruce A.; Becker, Lindsey; Bennett, Amanda E.; Berry, Leandra N.; Berry-Kravis, Elizabeth M.; Bruchey, Aleksandra; Byars, Anna W.; Cimms, Tricia; Cecil, Kim M.; Covello, Maxine; Cubit, Laura S.; Das, Tanvi; Davis, Robert J.; Drye, Madison; Ficicioglu, Can; Fulton, John B.; Goin-Kochel, Robin P.; Guthrie, Whitney; Hallinan, Barbara E.; Hannah-Shmouni, Fady; Gustafson, Kathryn E.; Koeberl, Dwight D.; Longo, Nicola; Mamak, Eva; Mercimek-Andrews, Saadet; Michalak, Claire; Porter, Forbes D.; Rahhal, Samar; Rees, Linda; Spiridigliozzi, Gail A.; Stone, Caitlin; Sullivan, Nancy R.; Sutton, V. Reid; Thomas, Rebecca P.; Udhnani, Manisha; Waisbren, Susan; Xu, Michelle; Zhang, Lin; Brandabur, Melanie; Thurm, Audrey
De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy
EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2024-04-024
OAAI
Sajan, Samin A.; Gradisch, Ralph; Vogel, Florian D.; Coffey, Alison J.; Salyakina, Daria; Soler, Diana; Jayakar, Parul; Jayakar, Anuj; Bianconi, Simona E.; Cooper, Annina H.; Liu, Shuxi; William, Nancy; Benkel-Herrenbrueck, Ira; Maiwald, Robert; Heller, Corina; Biskup, Saskia; Leiz, Steffen; Westphal, Dominik S.; Wagner, Matias; Clarke, Amy; Stockner, Thomas; Ernst, Margot; Kesari, Akanchha; Krenn, Martin
X-linked creatine transporter deficiency results in prolonged QTc and increased sudden death risk in humans and disease model
GENETICS IN MEDICINE
IF6.2
2021-10-0111
OAAI
Levin, Mark D.; Bianconi, Simona; Smith, Andrew; Cawley, Niamh X.; Do, An Dang; Hammond, Dylan; Grafstein, Julia F.; Thurm, Audrey; Miller, Judith; Perreault, John; Noguchi, Audrey; Springer, Danielle; Kozel, Beth A.; Spurney, Christopher F.; Wassif, Christopher A.; Yu, Zu-Xi; Schulze, Andreas; Porter, Forbes D.; Hannah-Shmouni, Fady
The Cerebellar Dopaminergic System
FRONTIERS IN SYSTEMS NEUROSCIENCE
IF3.5
2021-08-0540
OAAI
Flace, Paolo; Livrea, Paolo; Basile, Gianpaolo Antonio; Galletta, Diana; Bizzoca, Antonella; Gennarini, Gianfranco; Bertino, Salvatore; Valerio Branca, Jacopo Junio; Gulisano, Massimo; Bianconi, Simona; Bramanti, Alessia; Anastasi, Giuseppe
Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial
LANCET
IF88.5
2017-10-01257
OAAI
Ory, Daniel S.; Ottinger, Elizabeth A.; Farhat, Nicole Yanjanin; King, Kelly A.; Jiang, Xuntian; Weissfeld, Lisa; Berry-Kravis, Elizabeth; Davidson, Cristin D.; Bianconi, Simona; Keener, Lee Ann; Rao, Ravichandran; Soldatos, Ariane; Sidhu, Rohini; Walters, Kimberly A.; Xu, Xin; Thurm, Audrey; Solomon, Beth; Pavan, William J.; Machielse, Bernardus N.; Kao, Mark; Silber, Steven A.; Mckew, John C.; Brewer, Carmen C.; Vite, Charles H.; Walkley, Steven U.; Austin, Christopher P.; Porter, Forbes D.

研究方向

暂未获取到该数据
F
Forbes D. Porter
H 指数:60论文数:288被引数:1.2万
A
Audrey Thurm
H 指数:58论文数:301被引数:1.5万
N
Nicole Y. Farhat
H 指数:18论文数:47被引数:1,235
A
An Dang
H 指数:14论文数:57被引数:749
C
Christopher A. Wassif
H 指数:44论文数:123被引数:6,101
C
Cristan Farmer
H 指数:45论文数:413被引数:5,981
E
Elizabeth Berry‐Kravis
H 指数:90论文数:553被引数:2.7万
J
Judith S. Miller
H 指数:30论文数:97被引数:3,382
N
Nicola Longo
H 指数:55论文数:711被引数:1.1万
N
Ninet Sinaii
H 指数:47论文数:211被引数:7,041