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

The clinical and genetic profiles of spinal muscular atrophy with respiratory distress type 1 and identification of a novel mutation in IGHMBP2 in China

中国脊髓性肌萎缩症伴呼吸窘迫1型的临床和遗传特征及IGHMBP2基因新突变的鉴定

Wang, Yanjun; Yang, Ya; Wang, Jingjing; Han, Qian; Zhai, Nana; Xiao, Shufang

[Generation of induced pluripotent stem cells from peripheral blood mononuclear cells of a patient with autosomal recessive Charcot-Marie-Tooth disease type 2S caused by IGHMBP2 mutations]

[利用IGHMBP2基因突变引起的常染色体隐性遗传性夏科-马里-图斯病2S型患者的外周血单核细胞生成诱导多能干细胞]

Liu, Lei; Xu, Ke; Zeng, Sen; Xie, Yongzhi; Zhang, Ruxu; Hu, Zhongyang

The contribution and therapeutic implications of IGHMBP2 mutations on IGHMBP2 biochemical activity and ABT1 association.

IGHMBP2 突变对 IGHMBP2 生化活性和 ABT1 关联的影响及治疗意义

Vadla Gangadhar P, Singh Kamal, Lorson Christian L, Lorson Monique A

Novel mutation in the IGHMBP2 gene in spinal muscular atrophy with respiratory distress type 1: A case report

脊髓性肌萎缩症伴呼吸窘迫1型中IGHMBP2基因的新突变:病例报告

Zhu, Jicai; Ma, Minming; Chen, Xiaofang; Xiong, Caiyun; Ju, Yan; Chunhui, Tang

Case report: Heterozygous variation in the IGHMBP2 gene leading to spinal muscular atrophy with respiratory distress type 1

病例报告:IGHMBP2基因杂合变异导致脊髓性肌萎缩症伴呼吸窘迫1型

Zhou, Chaoai; Chen, Zefu; Chen, Qiqing; Feng, Xiaowei

A novel IGHMBP2 variant and clinical diversity in Vietnamese SMARD1 and CMT2S patients

越南SMARD1和CMT2S患者中发现一种新的IGHMBP2变异体及其临床多样性

Tran, Van Khanh; Cao, My Ha; Nguyen, Thi Thanh Hai; Le, Phuong Thi; Tran, Hai Anh; Vu, Dung Chi; Nguyen, Ha Thu; Nguyen, Mai Thi Phương; Bui, The-Hung; Nguyen, Thanh Binh; Ta, Thanh Van; Tran, Thinh Huy

Exploring the relationship between IGHMBP2 gene mutations and spinal muscular atrophy with respiratory distress type 1 and Charcot-Marie-Tooth disease type 2S: a systematic review

探讨IGHMBP2基因突变与脊髓性肌萎缩症伴呼吸窘迫1型和夏科-马里-图斯病2S型之间关系:一项系统性综述

Tian, Yuan; Xing, Jinfang; Shi, Ying; Yuan, Enwu

Validation of the Pathogenic Effect of IGHMBP2 Gene Mutations Based on Yeast S. cerevisiae Model

基于酿酒酵母模型验证IGHMBP2基因突变的致病作用

Weronika Rzepnikowska, Joanna Kaminska, Andrzej Kochański

A Novel Treatment for Glomerular Disease: Targeting the Activated Macrophage Folate Receptor with a Trojan Horse Therapy in Rats

肾小球疾病的新治疗方法:利用特洛伊木马疗法针对大鼠体内活化的巨噬细胞叶酸受体

Gabriela E Garcia, Yingjuan J Lu, Luan D Truong, Carlos A Roncal-Jiménez, Makoto Miyazaki, Shinobu Miyazaki-Anzai, Gabriel Cara-Fuentes, Ana Andres-Hernando, Miguel Lanaspa, Richard J Johnson, Christopher P Leamon

The PARADIGHM (physicians advancing disease knowledge in hypoparathyroidism) registry for patients with chronic hypoparathyroidism: study protocol and interim baseline patient characteristics

PARADIGHM(医生推进甲状旁腺功能减退症疾病知识)注册研究:慢性甲状旁腺功能减退症患者研究方案及中期基线患者特征

Gittoes, Neil; Rejnmark, Lars; Ing, Steven W; Brandi, Maria Luisa; Björnsdottir, Sigridur; Hahner, Stefanie; Hofbauer, Lorenz C; Houillier, Pascal; Khan, Aliya A; Levine, Michael A; Mannstadt, Michael; Shoback, Dolores M; Vokes, Tamara J; Zhang, Pinggao; Marelli, Claudio; Germak, John; Clarke, Bart L