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S

Simona Balestrini

leiden university medical center (lumc)
H指数:35
被引数:4,579

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工作经历

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荣誉奖项

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Real-World Use of Cenobamate in Paediatric Drug-Resistant Epilepsy: Long-Term Efficacy, Safety, and Co-Medication Adjustment

Real-World Use of Cenobamate in Paediatric Drug-Resistant Epilepsy: Long-Term Efficacy, Safety, and Co-Medication Adjustment

European Journal of Neurology
IF3.9
2026-02-010
OAAI
Pisano, Tiziana; Balestrini, Simona; Boncristiano, Alessandra; Caini, Saverio; Lombardini, Martina; Scuma, Erica; Cavallin, Mara; Bartolini, Luca; Pellacani, Simona; Barba, Carmen; Guerrini, Renzo
The burden of TTN variants in the genomic era: analysis of 18,462 individuals from the Solve-RD consortium and general recommendations

TTN变异在基因组时代的负担：对Solve-RD联盟18,462名个体的分析及一般性建议

Genetics in Medicine
IF6.2
2025-11-200
OAAI
Maria Francesca Di Feo; Ida Paramonov; Leslie Matalonga Borrel; Ana Töpf; Alexander Hoischen; Sergi Beltran; Holm Graessner; Lisenka Vissers; Richarda de Voer; Marielle van Gijn; Simona Balestrini; Holger Lerche; Gaëtan Lesca; Swethaa Natraj Gayathri; Kornelia Ellwanger; Mireille Cossee; Aurelien Perrin; Anna Sarkozy; Gisele Bonne; Job A.J. Verdonschot
Clinical and genetic landscape of epilepsies with absence seizures and single-gene etiology

伴有失神发作和单基因病因的癫痫的临床和遗传景观

Epilepsia
IF6.6
2025-10-250
OAAI
Simona Balestrini; Ilaria Galli; Maria Luisa Ricci; Elena Parrini; Davide Mei; Mario Mastrangelo; Francesco Pisani; Corinna Filippi; Lucio Giordano; Elisabetta Cesaroni; Carla Marini; Emanuele Cerulli Irelli; Carlo di Bonaventura; Marica Rubino; Antonietta Coppola; Jacopo Proietti; Tommaso Lo Barco; Francesca Darra; Laura Licchetta; Francesca Bisulli; Marco Perulli; Domenica Battaglia; Angela De Dominicis; Marina Trivisano; Nicola Specchio; Roberta Solazzi; Davide Caputo; Laura Canafoglia; LICE Collaborative group; Renzo Guerrini
Climate change and hyponatremia-related hospital admissions in people with focal epilepsy exposed to carbamazepine or its derivatives

气候变化及卡马西平或其衍生物暴露的局灶性癫痫患者中与低钠血症相关的住院情况

Epilepsia
IF6.6
2025-08-020
OAAI
Francesco Fortunato; Francesco D'Amico; Anny Votano; Ilaria Sammarra; Environmental Climate Observatory Group – CNR-ISAC Lamezia Terme; Michele Trimboli; Medine I. Gulcebi; James D. Mills; Simona Balestrini; Sanjay M. Sisodiya; Antonio Gambardella
SUDEP risk is influenced by longevity genomics: a polygenic risk score study

SUDEP风险受长寿基因组学的影响：一项多基因风险评分研究

eBioMedicine
IF10.8
2025-07-280
OA
Helena Martins; James D. Mills; Susanna Pagni; Medine I. Gulcebi; Angeliki Vakrinou; Patrick B. Moloney; Lisa M. Clayton; Ravishankara Bellampalli; Hannah Stamberger; Sarah Weckhuysen; Pasquale Striano; Federico Zara; Richard D. Bagnall; Rebekah V. Harris; Kate M. Lawrence; Lynette G. Sadleir; Douglas E. Crompton; Daniel Friedman; Juliana Laze; Ling Li; Samuel F. Berkovic; Christopher Semsarian; Ingrid E. Scheffer; Orrin Devinsky; Karoline Kuchenbaecker; Simona Balestrini; Sanjay M. Sisodiya
COL4A1 and COL4A2-Related Disorders – Clinical Features, Diagnostic Guidelines, and Management.

COL4A1和COL4A2相关疾病——临床特征、诊断指南和管理。

Genetics in Medicine
IF6.2
2025-07-020
OA
Diana Tambala; Rachel Vassar; John Snow; Simona Balestrini; Anna Bersano; Stéphanie Guey; Eleonora Bonaventura; Sabrina Signorini; Stefano Sartori; Enrico Bertini; Davide Tonduti; Cecilia Parazzini; Marina Macchiaiolo; Maria Federica Pelizza; Anna Pichiecchio; Laura Massella; Thibault Coste; Simona Orcesi; Davide Politano; Giacomo Bacci; Patricia L. Musolino
TMS-EEG in postictal psychosis of epilepsy

癫痫术后精神病中的TMS-EEG

Schizophrenia Research
IF3.5
2025-07-020
OA
Aryeh Dworkin; Diego Jiménez-Jiménez; Charlotte Ravenscroft; Francesco Turco; Chloe Johnson; Fahmida A. Chowdhury; Joao Pizarro; Sasha D'Ambrosio; Sanjay M. Sisodiya; Umesh Vivekananda; Simona Balestrini
Bi-allelic variants in TM2D3 cause a severe syndromic neurodevelopmental disorder associated with endoplasmic reticulum and mitochondrial abnormalities

TM2D3基因的双等位基因变异会导致一种与内质网和线粒体异常相关的严重综合征性神经发育障碍。

american journal of human genetics
IF0
2025-05-300
PRE
Claudie Gabillard-Lefort; Caroline Silveira Martinez; Naïg Gueguen; Valérie Desquiret-Dumas; Méline Wery; Louis Legoff; Anne Guimier; Sophie Rondeau; Giulia Barcia; Christine Barnerias; Benjamin Cogne; Thomas Besnard; Elsa Lorino; Jessica Douglas; Olaf Bodamer; Annalisa Vetro; Renzo Guerrini; Simona Balestrini; Valerio Conti; Laura Siri; Arnaud Chevrollier; Céline Bris; Estelle Colin; Vincent Procaccio; Delphine Prunier-Mirebeau; Guy Lenaers; Salim Khiati; Mathilde Nizon; Olivier R. Baris

研究方向

暂未获取到该数据
S
Sanjay M. Sisodiya
H 指数:99论文数:583被引数:4.0万
R
Renzo Guerrini
H 指数:116论文数:2,097被引数:5.3万
I
Ingrid E. Scheffer
H 指数:141论文数:1,048被引数:8.8万
P
Pasquale Striano
H 指数:86论文数:1,383被引数:3.2万
D
Davide Mei
H 指数:52论文数:164被引数:7,092
A
Antonio Gambardella
H 指数:68论文数:639被引数:1.8万
A
Antonietta Coppola
H 指数:43论文数:189被引数:6,433
S
Sarah Weckhuysen
H 指数:70论文数:250被引数:1.4万
J
J. Helen Cross
H 指数:102论文数:936被引数:5.7万
R
Rikke S. Møller
H 指数:78论文数:406被引数:2.1万