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

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

Rare but Relevant? Assessing Variants in Dystonia-Linked Genes in Parkinson's Disease

罕见但重要?评估帕金森病中与肌张力障碍相关的基因变异

Lange, Lara M; Fang, Zih-Hua; Screven, Laurel; Tan, Ai Huey; Alcalay, Roy N; Amouri, Rim; Bovenzi, Roberta; Fenn, Matilda; Frost, Joshua L I; Jankovic, Joseph; Jasaityte, Simona; Jaunmuktane, Zane; Jeon, Beomseok; Sarmiento, Ignacio Juan Keller; Krüger, Rejko; Kuhlenbäumer, Gregor; Lin, Chin-Hsien; Pavelka, Lukas; Periñan, Maria Teresa; Sassi, Samia Ben; Schirinzi, Tommaso; Shin, Jung Hwan; Shulman, Joshua M; Tay, Yi Wen; Uitti, Ryan; Warner, Tom; Wszolek, Zbigniew K; Wu, Lesley; Wu, Ruey-Meei; Zeuner, Kirsten E; Blauwendraat, Cornelis; Singleton, Andrew; Mencacci, Niccolò E; Morris, Huw R; Lim, Shen-Yang; Lohmann, Katja; Klein, Christine

Correction: Choline alphoscerate: insights between acquired certainties and future perspectives

更正:磷酸胆碱:在既有确定性和未来展望之间的洞见

Biggio, Giovanni; Mencacci, Claudio

Pathogen trends and paradigm shifts of respiratory infections in children: a 5-year retrospective study from Perugia

儿童呼吸道感染病原体趋势和范式转变:佩鲁贾一项为期5年的回顾性研究

Elena, Fiumicelli; Sofia, Nicolì; Paola, Pazzelli; Laura, Penta; Angela, Biccardi; Barbara, Camilloni; Antonella, Mencacci; Giuseppe, Di Cara; Alberto, Verrotti; Francesco, Valitutti

The LRRK2 p.L1795F variant causes Parkinson's disease in the European population

LRRK2 p.L1795F 变异导致欧洲人群患帕金森病。

Lange, Lara M; Levine, Kristin; Fox, Susan H; Marras, Connie; Ahmed, Nazish; Kuznetsov, Nicole; Vitale, Dan; Iwaki, Hirotaka; Lohmann, Katja; Marsili, Luca; Espay, Alberto J; Bauer, Peter; Beetz, Christian; Martin, Jessica; Factor, Stewart A; Higginbotham, Lenora A; Chen, Honglei; Leonard, Hampton; Nalls, Mike A; Mencacci, Niccolo E; Morris, Huw R; Singleton, Andrew B; Klein, Christine; Blauwendraat, Cornelis; Fang, Zih-Hua

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

Choline alphoscerate: insights between acquired certainties and future perspectives

高磷酸胆碱:在既有确定性和未来展望之间的洞见

Biggio, Giovanni; Mencacci, Claudio

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

Insomnia in seasonal affective disorder: considering the use of benzodiazepines with a focus on lormetazepam

季节性情感障碍中的失眠:考虑使用苯二氮卓类药物,重点关注氯美他泮

Biggio, Giovanni; Mencacci, Claudio