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

Outcomes from the English National Lynch Syndrome transformation project

英国国家林奇综合症转型项目的成果

Monahan, Kevin J; Fleming, Paul; Ryan, Neil A J; Monje-Garcia, Laura; Armstrong, Ruth; Church, David N; Cook, Jackie; Lalloo, Fiona; Lane, Sally; McDermott, Frank D; Miles, Tracie; Mallinson, Corinne; Hardy, Steven A; Gelinas, Simone; Faravelli, Francesca; Elmslie, Frances; Shaw, Adam C

Targeted antisense oligonucleotide treatment rescues developmental alterations in spinal muscular atrophy organoids

靶向反义寡核苷酸治疗可挽救脊髓性肌萎缩症类器官的发育异常

Irene Faravelli #,Paola Rinchetti #,Monica Tambalo #,Illia Simutin,Lisa Mapelli,Sara Mancinelli,Matteo Miotto,Mafalda Rizzuti,Andrea D'Angelo,Chiara Cordiglieri,Giulia Forotti,Clelia Peano,Paolo Kunderfranco,Luca Calandriello,Giacomo P Comi,Elvezia Paraboschi,Eleonora Pali,Francesca Beatrice,Egidio D'Angelo,Serge Przedborski,Monica Nizzardo,Simona Lodato,Stefania Corti

Next-generation sequencing (NGS) techniques for pre-symptomatic identification of genetic diseases in newborns

下一代测序(NGS)技术用于新生儿遗传疾病的症状前识别

Pessano, Sara; Boldor, Maria; Faravelli, Francesca; Fiander, Michelle; Jørgensen, Karsten Juhl; Soll, Roger F; Bruschettini, Matteo

LMX1B haploinsufficiency due to variants in the 5'UTR as a cause of Nail-Patella syndrome.

LMX1B 单倍体不足,由 5'UTR 变异引起,是指甲髌骨综合征的病因

Cappato Serena, Divizia Maria Teresa, Menta Ludovica, Rosti Giulia, Puliti Aldamaria, Martinheira Da Silva Joana Soraia, Santamaria Giuseppe, Di Duca Marco, Ronchetto Patrizia, Faravelli Francesca, Zara Federico, Bocciardi Renata

Evaluation of a New Riluzole-Based Compound VA945 on Sodium and Potassium Conductances Expressed by SH-SY5Y- Derived Neurons

评价一种新型利鲁唑类化合物VA945对SH-SY5Y衍生神经元表达的钠钾电导的影响

Cazzola, J; Talpo, F; Faravelli, G; Donati, C; Maramai, S; Saletti, M; Giuliani, G; Paolino, M; Cappelli, A; Anzini, M; Sommi, P; Vitali, A; Sala, A; Trucco, A; Biella, G R; Spaiardi, P

Arteriovenous cerebral high-flow shunts: genetic analysis of patients from a pediatric tertiary care center

动静脉脑高流量分流:儿科三级医疗中心患者的基因分析

Romano, Ferruccio; De Marco, Patrizia; Amico, Giulia; Mallamaci, Marisa; Pavanello, Marco; Piatelli, Gianluca; Scala, Marcello; Zara, Federico; Faravelli, Francesca; Severino, Mariasavina; Tortora, Domenico; Pasetti, Francesco; Castellan, Lucio; Buratti, Silvia; Capra, Valeria

Functional Characterization of a Novel Intronic Variant in PIEZO2 in a Recessive Form of Distal Arthrogryposis With Impaired Proprioception and Touch (DAIPT).

对 PIEZO2 中一种新的内含子变异在隐性远端关节挛缩症伴本体感觉和触觉障碍 (DAIPT) 中的功能表征

Bellardita Michela, Romano Ferruccio, Menta Ludovica, Da Silva Joana Soraia Martinheira, Ognibene Marzia, Baldassari Simona, Di Duca Marco, Panicucci Chiara, Baratto Serena, Brolatti Noemi, Pedemonte Marina, Fiorillo Chiara, Bruno Claudio, Scala Marcello, Zara Federico, Faravelli Francesca, Madia Francesca, Cappato Serena, Bocciardi Renata, Capra Valeria

Human brain organoids record the passage of time over multiple years in culture

人类脑类器官记录了培养多年期间的时间流逝

Faravelli, Irene; Antón-Bolaños, Noelia; Wei, Anqi; Faits, Tyler; Sampath Kumar, Abhishek; Andreadis, Sophia; Kastli, Rahel; Montero Crespo, Marta; Steiger, Mara; Leible, Daniel; Zhang, Elizabeth; An, Bobae; Meirovitch, Yaron; Silwal, Sayara; Yang, Sung Min; Kovacsovics, Alexander; Adiconis, Xian; Kretzmer, Helene; Levin, Joshua Z; Boyden, Edward S; Lichtman, Jeff; Regev, Aviv; Meissner, Alexander; Arlotta, Paola

Brain Chimeroids reveal individual susceptibility to neurotoxic triggers

脑嵌合体揭示个体对神经毒性触发因素的敏感性

Noelia Antón-Bolaños #, Irene Faravelli #, Tyler Faits, Sophia Andreadis, Rahel Kastli, Sebastiano Trattaro, Xian Adiconis, Anqi Wei, Abhishek Sampath Kumar, Daniela J Di Bella, Matthew Tegtmeyer, Ralda Nehme, Joshua Z Levin, Aviv Regev, Paola Arlotta

Bi-specific autoantigen-T cell engagers as targeted immunotherapy for autoreactive B cell depletion in autoimmune diseases

双特异性自身抗原-T细胞衔接器作为靶向免疫疗法用于自身免疫性疾病中自身反应性B细胞的清除

Luca Perico # ,Federica Casiraghi # ,Fabiane Sônego ,Marta Todeschini ,Daniela Corna ,Domenico Cerullo ,Anna Pezzotta ,Patricia Isnard-Petit ,Silvia Faravelli ,Federico Forneris ,Kader Thiam ,Ariela Benigni ,Giuseppe Remuzzi