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

Targeted blocking of gene splicing can dysregulate intron-embedded primary microRNAs

靶向阻断基因剪接可导致内含子中嵌入的初级microRNA失调

Ali, Md Hasan; Ramesh, Athul R; Nedunchezhian, Naveen; Kwiatkowski, Wojciech; Kopeć, Piotr; Kowalewska, Natalia; Pęcherz, Sebastian; Gnutti, Barbara; Finazzi, Dario; Anbalagan, Savani

Mitochondrial energetic failure underlies FLVCR1-related sensory neuropathy.

线粒体能量衰竭是 FLVCR1 相关感觉神经病变的根本原因。

Bertino Francesca, Zanin Venturini Diletta Isabella, Grasso Eleonora, Kopecka Joanna, Salio Chiara, Gnutti Barbara, Basnet Ram Manohar, Bellini Stefania, Mignani Luca, Zhao Boxun, Kleefeld Felix, Hentschel Andreas, Magnani Francesca, Fiorito Veronica, Abalai Raluca Elena, Metani Livia, Allocco Anna Lucia, Petrillo Sara, De Giorgio Francesco, Ammirata Giorgia, Salsano Ettore, Pareyson Davide, di Rocco Maja, Abicht Angela, McCourt Emily, Horvath Rita, Kölbel Heike, Larson Austin, Roos Andreas, Yu Timothy W, Finazzi Dario, Riganti Chiara, Tolosano Emanuela, Chiabrando Deborah

WDR45-related encephalopathy mimicking Leigh syndrome associated with complex I deficiency: a case report

WDR45相关性脑病,表现为类似Leigh综合征的复合体I缺乏症:病例报告

Ferrera, Giulia; Derderian, Kevork; Izzo, Rossella; Gnutti, Barbara; Legati, Andrea; Zorzi, Giovanna; Lamantea, Eleonora; Iuso, Arcangela; Ardissone, Anna

An Update and Perspectives on Mitochondrial Membrane Protein-Associated Neurodegeneration and C19orf12 Research

线粒体膜蛋白相关神经退行性疾病和C19orf12研究的最新进展和展望

Gnutti, Barbara; Iuso, Arcangela; Angelini, Chloé; Finazzi, Dario

Pantethine ameliorates dilated cardiomyopathy features in PPCS deficiency disorder in patients and cell line models.

泛硫乙胺可改善 PPCS 缺乏症患者和细胞系模型中的扩张型心肌病特征

Zhang Fangfang, Dorn Tatjana, Gnutti Barbara, Anikster Yair, Kuebler Sarah, Ahrens-Nicklas Rebecca, Gosselin Rachel, Rahman Shamima, Durst Ronen, Zanuttigh Enrica, Güra Miriam A, Poch Christine M, Meier Anna B, Laugwitz Karl-Ludwig, Schüller Hans-Joachim, Messias Ana C, Sibon Ody C, Finazzi Dario, Rippert Alyssa, Li Dong, Truxal Kristen, Nandi Deipanjan, Lampert Brent C, Yeo Mildrid, Gardham Alice, Nissan Batel, Horowitz Cederboim Smadar, Moretti Alessandra, Iuso Arcangela

Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic Diagnosis

罕见单核苷酸变异和拷贝数变异与先天性梗阻性尿路疾病的病因:对基因诊断的启示

Ahram, Dina F; Lim, Tze Y; Ke, Juntao; Jin, Gina; Verbitsky, Miguel; Bodria, Monica; Kil, Byum Hee; Chatterjee, Debanjana; Piva, Stacy E; Marasa, Maddalena; Zhang, Jun Y; Cocchi, Enrico; Caridi, Gianluca; Gucev, Zoran; Lozanovski, Vladimir J; Pisani, Isabella; Izzi, Claudia; Savoldi, Gianfranco; Gnutti, Barbara; Capone, Valentina P; Morello, William; Guarino, Stefano; Esposito, Pasquale; Lambert, Sarah; Radhakrishnan, Jai; Appel, Gerald B; Uy, Natalie S; Rao, Maya K; Canetta, Pietro A; Bomback, Andrew S; Nestor, Jordan G; Hays, Thomas; Cohen, David J; Finale, Carolina; Wijk, Joanna A E van; La Scola, Claudio; Baraldi, Olga; Tondolo, Francesco; Di Renzo, Dacia; Jamry-Dziurla, Anna; Pezzutto, Alessandro; Manca, Valeria; Mitrotti, Adele; Santoro, Domenico; Conti, Giovanni; Martino, Marida; Giordano, Mario; Gesualdo, Loreto; Zibar, Lada; Masnata, Giuseppe; Bonomini, Mario; Alberti, Daniele; La Manna, Gaetano; Caliskan, Yasar; Ranghino, Andrea; Marzuillo, Pierluigi; Kiryluk, Krzysztof; Krzemień, Grażyna; Miklaszewska, Monika; Lin, Fangming; Montini, Giovanni; Scolari, Francesco; Fiaccadori, Enrico; Arapović, Adela; Saraga, Marijan; McKiernan, James; Alam, Shumyle; Zaniew, Marcin; Szczepańska, Maria; Szmigielska, Agnieszka; Sikora, Przemysław; Drożdż, Dorota; Mizerska-Wasiak, Malgorzata; Mane, Shrikant; Lifton, Richard P; Tasic, Velibor; Latos-Bielenska, Anna; Gharavi, Ali G; Ghiggeri, Gian Marco; Materna-Kiryluk, Anna; Westland, Rik; Sanna-Cherchi, Simone

Human Mutated MYOT and CRYAB Genes Cause a Myopathic Phenotype in Zebrafish.

人类突变的 MYOT 和 CRYAB 基因导致斑马鱼出现肌病表型

Cannone Elena, Guglielmi Valeria, Marchetto Giulia, Tobia Chiara, Gnutti Barbara, Cisterna Barbara, Tonin Paola, Barbon Alessandro, Vattemi Gaetano, Schiavone Marco

Extended performance analysis of deep-learning algorithms for mice vocalization segmentation

对用于小鼠发声分割的深度学习算法进行扩展性能分析

Baggi, Daniele; Premoli, Marika; Gnutti, Alessandro; Bonini, Sara Anna; Leonardi, Riccardo; Memo, Maurizio; Migliorati, Pierangelo

Integrated mutational landscape analysis of uterine leiomyosarcomas

子宫平滑肌肉瘤的整合突变图谱分析

Choi, Jungmin; Manzano, Aranzazu; Dong, Weilai; Bellone, Stefania; Bonazzoli, Elena; Zammataro, Luca; Yao, Xiaotong; Deshpande, Aditya; Zaidi, Samir; Guglielmi, Adele; Gnutti, Barbara; Nagarkatti, Nupur; Tymon-Rosario, Joan R; Harold, Justin; Mauricio, Dennis; Zeybek, Burak; Menderes, Gulden; Altwerger, Gary; Jeong, Kyungjo; Zhao, Siming; Buza, Natalia; Hui, Pei; Ravaggi, Antonella; Bignotti, Eliana; Romani, Chiara; Todeschini, Paola; Zanotti, Laura; Odicino, Franco; Pecorelli, Sergio; Ardighieri, Laura; Bilguvar, Kaya; Quick, Charles M; Silasi, Dan-Arin; Huang, Gloria S; Andikyan, Vaagn; Clark, Mitchell; Ratner, Elena; Azodi, Masoud; Imielinski, Marcin; Schwartz, Peter E; Alexandrov, Ludmil B; Lifton, Richard P; Schlessinger, Joseph; Santin, Alessandro D

DHES0815A, a novel antibody-drug conjugate targeting HER2/neu, is highly active against uterine serous carcinomas in vitro and in vivo

DHES0815A是一种新型的靶向HER2/neu的抗体药物偶联物,在体外和体内均对子宫浆液性癌具有很高的活性。

Tymon-Rosario, Joan; Bonazzoli, Elena; Bellone, Stefania; Manzano, Aranzazu; Pelligra, Silvia; Guglielmi, Adele; Gnutti, Barbara; Nagarkatti, Nupur; Zeybek, Burak; Manara, Paola; Zammataro, Luca; Harold, Justin; Mauricio, Dennis; Buza, Natalia; Hui, Pei; Altwerger, Gary; Menderes, Gulden; Ratner, Elena; Clark, Mitchell; Andikyan, Vaagn; Huang, Gloria S; Silasi, Dan-Arin; Azodi, Masoud; Schwartz, Peter E; Santin, Alessandro D