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

Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype.

黏连蛋白装载亚基 MAU2 的致病变异是 Cornelia de Lange 综合征的一个独特亚型的根本原因。

Parenti Ilaria, Hesters Alina, Gil-Salvador Marta, Duffy Laura, Kanber Deniz, Beygo Jasmin, Kerkhof Jennifer, Steenpaß Laura, Leitão Elsa, Woestefeld Julia, Boone Philip M, Kao Emeline M, Alabdi Lama, Aldhalaan Hesham M, Alkuraya Fowzan S, Alshammari Muneera J, Antonarakis Stylianos E, Basel Donald, Cassinari Kevin, de Polli Cellin Laurana, Clause Amanda R, de Lima Jorge Alexander Augusto, de Castro Leal Andréa, Collins Stephan C, Durand Benjamin, Eckhold Juliane, Hashem Mais O, Jayakar Parul, Khan Arif O, Kato Kohji, Kubica Regina, Lyon Gholson J, Marchi Elaine, McCarrier Julie, Kimmig Lara K, Mizuno Seiji, Nicolas Gael, Nishio Yosuke, Ogi Tomoo, Pié Juan, Prell Jordyn, Puisac Beatriz, Ramos Feliciano J, Ranza Emmanuelle, Redin Claire, Rush Eric, Saitoh Shinji, Shamseldin Hanan E, Starling Susan, Astiazaran-Symonds Esteban, Eltahir Sara H, Kuechler Alma, Sadikovic Bekim, Yalcin Binnaz, Wendt Kerstin S, Kaiser Frank J

Uncovering mitochondrial defects in photoreceptors opens therapeutic opportunities for Stargardt disease

发现光感受器中的线粒体缺陷为治疗斯塔加特病提供了契机。

Brillante, Simona; Volpe, Mariagrazia; Diana, Anna; Negueruela, Santiago; Molinari, Marta; Saurino, Rosa; Cipollaro, Eva; Polishchuk, Elena; Tenderini, Erika; Damiano, Carla; Tornabene, Patrizia; Polishchuk, Roman; Parenti, Giancarlo; Tarallo, Antonietta; Banfi, Sandro; Trapani, Ivana; Carrella, Sabrina; Indrieri, Alessia

SARS-CoV-2 and MERS-CoV disrupt host protein synthesis via nsp1 with differential effects on the integrated stress response

SARS-CoV-2 和 MERS-CoV 通过 nsp1 干扰宿主蛋白合成,对整合应激反应产生不同的影响。

Parenti, Nicholas A; Cusic, Renee; Renner, David M; Jackson, Nathaniel; Ye, Chengjin; Tan, Li Hui; Pfannenstiel, Jessica J; Fehr, Anthony R; Cohen, Noam A; Martinez-Sobrido, Luis; Burke, James M; Weiss, Susan R

The challenging diagnosis of ICU-related Mesenteric Ischaemia: a prospective, observational, multicentre cohort

重症监护室相关肠系膜缺血的诊断挑战:一项前瞻性、观察性、多中心队列研究

Andrei, Stefan; Allyn, Jerome; Allou, Nicolas; Yung, Sonia; Stefan, Gabriel; Matthews, Peter; Desmard, Mathieu; Federici, Laura; Castier, Yves; Ribeiro Parenti, Lara; Montravers, Philippe; Augustin, Pascal

Evaluation of a Boron-Conjugated SRC Inhibitor Combined with Proton and X-Ray Irradiation in U-87 MG and U-87 MG IDH1(R132H) Glioma Cell Lines.

对硼共轭 SRC 抑制剂与质子和 X 射线照射联合治疗 U-87 MG 和 U-87 MG IDH1(R132H) 胶质瘤细胞系的效果进行评价。

Alberghina Cristiana, Torrisi Filippo, Valable Samuel, Sarrazin Elsa, Blanchard Isis, Vela Anthony, Bravatà Valentina, Botta Lorenzo, Lanzanò Luca, Scalisi Silvia, Demichelis Maria P, Sabini Maria G, Patti Iolanda V, Russo Giorgio, Cammarata Francesco P, Parenti Rosalba

Prevalence of Functional Constipation in Children with Down Syndrome: A Study Conducted at a General Pediatrics Service

唐氏综合征儿童功能性便秘的患病率:一项在普通儿科服务机构进行的研究

Pereira, Ana Maria Daun Cação; Shin, Catarina; Henrique Parenti, Ana Beatriz; Carvalho, Mary de Assis; Fonseca, Cátia Regina Branco

GMPPB-CDG Results in Lysosomal Dysfunction and Acid Alpha-Glucosidase Deficiency.

GMPPB-CDG 导致溶酶体功能障碍和酸性α-葡萄糖苷酶缺乏。

Damiano Carla, Tarallo Antonietta, Gragnaniello Vincenza, Strollo Sandra, Fecarotta Simona, Tuzzi M Rosaria, Polishchuk Elena, Montefusco Sandro, Valanzano Anna, Assunto Antonia, Minopoli Nadia, Casa Roberto Della, Polishchuk Roman, Groen Stijn L M In 't, Medina Diego Luis, Bertini Enrico, Carrozzo Rosalba, Emmerich Julia, Schoser Benedikt, Pijnappel W W M Pim, Parenti Giancarlo

Temporal behavior of proportional mortality of fetal deaths according to underlying cause, 2011-2020

2011-2020年胎儿死亡比例死亡率随根本原因的变化趋势

Soares de Barros, Júlia Rodrigues; Parenti, Ana Beatriz Henrique; Carvalheira, Ana Paula Pinho; Ferrari, Anna Paula; Duarte, Marli Teresinha Cassamassimo; Parada, Cristina Maria Garcia de Lima

Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases

Telethon 未确诊疾病项目:以结构化方法解决罕见的儿童期发病遗传疾病

Torella, Annalaura; Morleo, Manuela; Spampanato, Carmine; Castello, Raffaele; Zanobio, Mariateresa; Piluso, Giulio; Di Letto, Pasquale; Onore, Maria Elena; Rahman, Sarah Iffat; Musacchia, Francesco; Pinelli, Michele; Vitiello, Giuseppina; De Riso, Giulia; Selicorni, Angelo; Mariani, Milena; Daolio, Cecilia; Capra, Valeria; Scala, Marcello; Nardecchia, Francesca; Galosi, Serena; Mastrangelo, Mario; Manti, Filippo; Milani, Donatella; Romano, Corrado; Greco, Donatella; Ciaccio, Claudia; D'Arrigo, Stefano; De Laurentiis, Arianna; Coppola, Antonietta; Zollino, Marcella; Pasquetti, Domizia; L'Erario, Federica Francesca; Tummolo, Albina; Santoro, Claudia; Garavelli, Livia; Marini, Carla; Bigoni, Stefania; Tirozzi, Alfonsina; Cetrangolo, Viviana; Parenti, Giancarlo; Di Bernardo, Diego; Peron, Angela; Maitz, Silvia; Accogli, Andrea; Cappuccio, Gerarda; Banfi, Sandro; Casari, Giorgio; Ballabio, Andrea; Brunetti-Pierri, Nicola; Nigro, Vincenzo

Maternal Mortality Among Black Women in Brazil: A Retrospective Cohort Study

巴西黑人女性孕产妇死亡率:一项回顾性队列研究

Santos, Gustavo Gonçalves Dos; Njoku, Anuli; Mafetoni, Reginaldo Roque; Sanfelice, Clara Fróes de Oliveira; Nicolau, Ana Izabel Oliveira; Parenti, Patrícia Wottrich; Oliveira, Cely de; López-Pedraza, Leticia; Mouta, Ricardo José Oliveira; Zihlmann, Karina Franco; Lima, Cindy Ferreira; Júnior, Cícero Ricarte Beserra; Aguiar, Cláudia de Azevedo; Reis, Cesar Henrique Rodrigues; Carvalho, Júlia Maria das Neves; Dias, Ana Cristina Ribeiro da Fonseca; Bettencourt, Maria Luísa Santos; da Silva, Mónica Alexandra Pinho; Guerra, Maria João Jacinto; Vidotti, Giovana Aparecida Gonçalves