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

A missense variant in the KH0-domain of FMRP downregulates the protein in a patient with the clinical hallmarks of fragile X syndrome

FMRP蛋白KH0结构域中的一个错义变异导致脆性X综合征患者体内该蛋白表达下调。

D'Incal, Claudio Peter; Dierckx, Bram; Vingerhoets, Claudia; van Haelst, Mieke; Annear, Dale John; Van Dijck, Anke; Bastini, Lina; Konings, Anthony; Elinck, Ellen; Mateiu, Ligia; van Eeghen, Agnies M; Kooy, R Frank

ADNP dysregulates methylation and mitochondrial gene expression in the cerebellum of a Helsmoortel-Van der Aa syndrome autopsy case

在Helsmoortel-Van der Aa综合征尸检病例中,ADNP导致小脑甲基化和线粒体基因表达失调

Claudio D'Incal ,Anke Van Dijck ,Joe Ibrahim ,Kevin De Man ,Lina Bastini ,Anthony Konings ,Ellen Elinck ,Claudia Theys ,Illana Gozes ,Zlatko Marusic ,Mirna Anicic ,Jurica Vukovic ,Nathalie Van der Aa ,Ligia Mateiu ,Wim Vanden Berghe ,R Frank Kooy

Tracing the invisible mutant ADNP protein in Helsmoortel-Van der Aa syndrome patients

追踪Helsmoortel-Van der Aa综合征患者体内不可见的突变ADNP蛋白

Claudio Peter D'Incal ,Elisa Cappuyns ,Kaoutar Choukri ,Kevin De Man ,Kristy Szrama ,Anthony Konings ,Lina Bastini ,Kim Van Meel ,Amber Buys ,Michele Gabriele ,Ludovico Rizzuti ,Alessandro Vitriolo ,Giuseppe Testa ,Fabio Mohn ,Marc Bühler ,Nathalie Van der Aa ,Anke Van Dijck ,R Frank Kooy ,Wim Vanden Berghe

Safety and Efficacy of Switching Injected Peptide Long-Acting Somatostatin Receptor Ligands to Once Daily Oral Paltusotine: ACROBAT Edge Phase 2 Study

将注射用长效生长抑素受体肽配体转换为每日一次口服帕妥索汀的安全性和有效性:ACROBAT Edge II期研究

D'Incal, Claudio; Dijck, Anke Van; Ibrahim, Joe; Man, Kevin De; Bastini, Lina; Konings, Anthony; Elinck, Ellen; Theys, Claudia; Gozes, Illana; Marusic, Zlatko; Anicic, Mirna; Vukovic, Jurica; Aa, Nathalie Van der; Mateiu, Ligia; Vanden Berghe, Wim; Kooy, R Frank; Gadelha, Monica R; Gordon, Murray B; Doknic, Mirjana; Mezősi, Emese; Tóth, Miklós; Randeva, Harpal; Marmon, Tonya; Luo, Rosa; Monahan, Michael; Madan, Ajay; Ferrara-Cook, Christine; Struthers, Scott; Krasner, Alan