Yan Chuanzhu相关文献与解析，生知库 | 链接生命科学的每一步

Clinicopathological profile of eosinophilic fasciitis: a retrospective cohort study from a neuromuscular disorder center in China.

嗜酸性筋膜炎的临床病理特征：来自中国神经肌肉疾病中心的回顾性队列研究

期刊:Arthritis Research & Therapy

影响因子:4.6

doi:10.1186/s13075-025-03574-z

Wang Xiaoyuan, Zhang Lining, Hou Ying, Dai Tingjun, Ma Xiaotian, Shao Kai, Yan Chuanzhu, Zhao Bing

神经科学

发表日期：2025

文献求助收藏

Connectivity-based striatal subregion microstructural changes in sporadic amyotrophic lateral sclerosis patients: Relation to motor disability, cognitive deficits, and serum biomarkers

散发性肌萎缩侧索硬化症患者纹状体亚区微结构变化与运动障碍、认知缺陷和血清生物标志物的关系

期刊:European Journal of Neurology

影响因子:3.9

doi:10.1111/ene.16577

Chen, Yujing; Sun, Sujuan; Yun, Yan; Sun, Xiaohan; Xin, Jiaxiang; Shao, Kai; Lin, Pengfei; Yu, Dexin; Yan, Chuanzhu; Liu, Shuangwu

神经科学

发表日期：2025

文献求助收藏

Prognostic Implications of Myositis-Specific Autoantibodies on Mortality, Relapse, and Remission in Dermatomyositis Patients

肌炎特异性自身抗体对皮肌炎患者死亡率、复发率和缓解率的预后意义

期刊:European Journal of Neurology

影响因子:3.9

doi:10.1111/ene.70446

Hou, Ying; Ma, Xiaotian; Mu, Haoran; Zhao, Bing; Zhang, Guoyong; Fu, Qingsong; Zhang, Fengyi; Wu, Xuehan; Zhang, Lining; Wang, Fang; Sui, Wenchen; Liu, Shuangwu; Li, Wei; Zhao, Yuying; Yan, Chuanzhu; Dai, Tingjun; Shao, Kai

免疫/内分泌

发表日期：2025

文献求助收藏

RNA Mis-Splicing Effects of Noncanonical Splicing Variants in Limb-Girdle Muscular Dystrophy Type R1/2A

非经典剪接变异体对肢带型肌营养不良症R1/2A型RNA剪接的影响

期刊:Neurology-Genetics

影响因子:3.7

doi:10.1212/NXG.0000000000200259

Wang, Guangyu; Liu, Haoyang; Yang, Guiguan; Gu, Shen; Yan, Chuanzhu; Lin, Pengfei

发表日期：2025

文献求助收藏

Novel POMT2 variants associated with limb-girdle muscular dystrophy R14: genetic, histological and functional studies.

与肢带型肌营养不良症 R14 相关的 POMT2 新型变异：遗传学、组织学和功能研究

期刊:Orphanet Journal of Rare Diseases

影响因子:3.5

doi:10.1186/s13023-025-03578-7

Yang Guiguan, Lv Xiaoqing, Wu Wenjing, Wang Guangyu, Yang Mengqi, Feng Yifei, Yan Chuanzhu, Liu Meirong, Lin Pengfei

其它

发表日期：2025

文献求助收藏

Novel biallelic TK2 mutations cause mitochondrial DNA depletion syndrome with infantile early-onset lipid storage myopathy.

新的双等位基因 TK2 突变导致线粒体 DNA 耗竭综合征伴婴儿早期发病脂质贮积性肌病

期刊:Orphanet Journal of Rare Diseases

影响因子:3.5

doi:10.1186/s13023-025-03639-x

Li Duoling, Shi Yixin, Sun Hanhan, Yan Chuanzhu, Lin Yan

Novel Presentation of McLeod Syndrome With Muscle Weakness and Biopsy Findings Indicative of Mitochondrial Dysfunction

麦克劳德综合征的一种新型表现：肌无力，活检结果提示线粒体功能障碍

期刊:Journal of Clinical Neurology

影响因子:3.1

doi:10.3988/jcn.2023.0253

Xu, Zhihong; Zhao, Ying; Zhao, YuYing; Yan, Chuanzhu; Ji, Kunqian

线粒体

发表日期：2025

文献求助收藏

An auxiliary diagnostic strategy for distinguishing Guillain-Barré syndrome and chronic inflammatory demyelinating polyneuropathy: combining platelet-to-lymphocyte ratio and cerebrospinal fluid interleukin-8 levels

鉴别格林-巴利综合征和慢性炎症性脱髓鞘性多发性神经病的一种辅助诊断策略：结合血小板/淋巴细胞比值和脑脊液白细胞介素-8水平

期刊:BMC Neurology

影响因子:2.2

doi:10.1186/s12883-025-04330-1

Song, Simin; Bai, Yunfei; Mu, Haoran; Xiao, Jianru; Li, Wei; Zhao, Yuying; Yan, Chuanzhu; Zheng, Jinfan; Wang, Caijing; Wang, Qinzhou

The Case of a 25-Year-Old Woman With Isolated Head Tremor

一名25岁女性孤立性头部震颤病例

Clinico-sero-pathological characteristics of anti-Ha antisynthetase syndrome.

抗Ha抗合成酶综合征的临床血清病理学特征

Clinicopathological profile of eosinophilic fasciitis: a retrospective cohort study from a neuromuscular disorder center in China.

嗜酸性筋膜炎的临床病理特征：来自中国神经肌肉疾病中心的回顾性队列研究

Connectivity-based striatal subregion microstructural changes in sporadic amyotrophic lateral sclerosis patients: Relation to motor disability, cognitive deficits, and serum biomarkers

散发性肌萎缩侧索硬化症患者纹状体亚区微结构变化与运动障碍、认知缺陷和血清生物标志物的关系

Prognostic Implications of Myositis-Specific Autoantibodies on Mortality, Relapse, and Remission in Dermatomyositis Patients

肌炎特异性自身抗体对皮肌炎患者死亡率、复发率和缓解率的预后意义

RNA Mis-Splicing Effects of Noncanonical Splicing Variants in Limb-Girdle Muscular Dystrophy Type R1/2A

非经典剪接变异体对肢带型肌营养不良症R1/2A型RNA剪接的影响

Novel POMT2 variants associated with limb-girdle muscular dystrophy R14: genetic, histological and functional studies.

与肢带型肌营养不良症 R14 相关的 POMT2 新型变异：遗传学、组织学和功能研究

Novel biallelic TK2 mutations cause mitochondrial DNA depletion syndrome with infantile early-onset lipid storage myopathy.

新的双等位基因 TK2 突变导致线粒体 DNA 耗竭综合征伴婴儿早期发病脂质贮积性肌病

Novel Presentation of McLeod Syndrome With Muscle Weakness and Biopsy Findings Indicative of Mitochondrial Dysfunction

麦克劳德综合征的一种新型表现：肌无力，活检结果提示线粒体功能障碍

An auxiliary diagnostic strategy for distinguishing Guillain-Barré syndrome and chronic inflammatory demyelinating polyneuropathy: combining platelet-to-lymphocyte ratio and cerebrospinal fluid interleukin-8 levels

鉴别格林-巴利综合征和慢性炎症性脱髓鞘性多发性神经病的一种辅助诊断策略：结合血小板/淋巴细胞比值和脑脊液白细胞介素-8水平