SMN相关文献与解析，生知库 | 链接生命科学的每一步

SMN1 variants identified by false-positive SMA newborn screening tests: Therapeutic hurdles and functional and epidemiological solutions

通过SMA新生儿筛查假阳性结果识别出的SMN1变异：治疗难题及功能和流行病学解决方案

doi:10.1016/j.ajhg.2026.01.012

Wirth, Brunhilde; Das, Joyosmita; Kölbel, Heike; Goh, Shuxiang; Farrar, Michelle A; Piano, Valentina; Zetzsche, Sebastian; Fuhrmann, Nico; Becker, Jutta; Karakaya, Mert; Zhang, Yougang; Cao, Yuqing; Taghipour-Sheshdeh, Afsaneh; Stringer, Brett W; Giacomotto, Jean

Comparative Characterization of a Proposed Generic Nusinersen: Identity of the Oligonucleotide Structure and Equivalence in SMN2 Splicing Activity

对一种拟建的通用型诺西那生（Nusinersen）进行比较表征：寡核苷酸结构的同一性及其在SMN2剪接活性方面的等效性

期刊:Pharmaceutics

影响因子:5.5

doi:10.3390/pharmaceutics18020178

Taran, Serge; Smolov, Maksim; Degterev, Maksim; Lyagoskin, Ivan; Shukurov, Rakhim

SMN

发表日期：2026

文献求助收藏

Lymphoid Organ Architecture and Hematopoiesis Disruption in Spinal Muscular Atrophy: Therapeutic Rescue by SMN Restoration.

脊髓性肌萎缩症中的淋巴器官结构和造血功能紊乱：SMN 恢复治疗挽救。

期刊:International Journal of Molecular Sciences

影响因子:4.9

doi:10.3390/ijms27031274

GuillamÃ³n Paula, Lindner Georg, Guillen Joel, Gatius AlaÃ³, Gras SÃlvia, MartÃnez-EspaÃ±a Laura, Piedrafita LÃdia, Panosa AnaÃ¯s, Tapia Olga, Mora Conchi, Esquerda Josep E, Tizzano Eduardo F, Tarabal Olga, CalderÃ³ Jordi

Examining the effectiveness of Don't Stop Me Now! (DSMN): a community-based sports intervention to promote social integration in adults with early psychosis - study protocol for a multicenter single-case multiple baseline design

检验“别阻止我！”（DSMN）项目的有效性：一项旨在促进早期精神病成人社会融合的社区体育干预——多中心单病例多基线设计研究方案

期刊:BMC Psychiatry

影响因子:3.6

doi:10.1186/s12888-026-07831-6

Oweh, Rachel R; van Busschbach, Jooske T; Boonstra, Nynke; Ariesen, Akke-Marij D; Emck, Claudia; Muller, Merel K; Waarheid, Clement O; Spoelman, Susanne; Pijnenborg, Gerdine H M; Steenhuis, Laura A

SMN

发表日期：2026

文献求助收藏

Toward Comprehensive Detection of the SMN1/2 Genotypes: Potential of Long-Read Sequencing in Routine SMA Genetic Testing

迈向SMN1/2基因型的全面检测：长读长测序在SMA常规基因检测中的应用潜力

期刊:Journal of Molecular Diagnostics

影响因子:3.4

doi:10.1016/j.jmoldx.2025.11.001

A type IV spinal muscular atrophy with gastrocnemius pseudohypertrophy caused by SMN1 deletion: a case report and literature review

由SMN1基因缺失引起的伴腓肠肌假性肥大的IV型脊髓性肌萎缩症：病例报告及文献综述

期刊:BMC Neurology

影响因子:2.2

doi:10.1186/s12883-025-04619-1

Xi, Hu; He, Wangsheng; Jiang, Hailin; Xie, Wenting; Yang, Yue; Yang, Yulong; Diao, Ke; Yang, Wenming; Li, Hao

First combined analysis of SMN1, SMN2, and NAIP copy numbers in Moroccan SMA patients and their correlation with disease severity

首次对摩洛哥脊髓性肌萎缩症（SMA）患者的SMN1、SMN2和NAIP拷贝数进行联合分析，并探讨其与疾病严重程度的相关性

期刊:Molecular Genetics and Metabolism Reports

影响因子:1.9

doi:10.1016/j.ymgmr.2026.101299

Nmer, Samira; Trhanint, Said; Sayel, Hanane; Chaouki, Sana; Bouguenouch, Laila; Ouldim, Karim

Growth Hormone Strongly Induces hSMN2 Promoter Driving Construct Gene Expression in Mammalian Cells

生长激素强烈诱导哺乳动物细胞中hSMN2启动子驱动构建体基因的表达

期刊:Journal of Clinical Research in Pediatric Endocrinology

影响因子:1.5

doi:10.4274/jcrpe.galenos.2025.2025-5-8

Yücedal, Dilara; Arman, Ahmet

Astrocyte targeted SMN1 gene therapy and forskolin application improves astrocyte filopodia actin defects and motor neuron synaptic dysfunction in human SMA disease pathology

星形胶质细胞靶向SMN1基因治疗和福斯克林应用可改善人类SMA疾病病理中的星形胶质细胞丝状伪足肌动蛋白缺陷和运动神经元突触功能障碍

期刊:

影响因子:

doi:10.64898/2026.03.26.714618

Welby, Emily; Liu, Xiaojie; Wojtkiewicz, Melinda; Luecke, Linda Berg; Gundry, Rebekah L; Liu, Qing-Song; Ebert, Allison D

Clinical relevance of zebrafish for gene variants testing. Proof-of-principle with SMN1/SMA

斑马鱼在基因变异检测中的临床意义：SMN1/SMA 的原理验证

SMN1 variants identified by false-positive SMA newborn screening tests: Therapeutic hurdles and functional and epidemiological solutions

通过SMA新生儿筛查假阳性结果识别出的SMN1变异：治疗难题及功能和流行病学解决方案

Comparative Characterization of a Proposed Generic Nusinersen: Identity of the Oligonucleotide Structure and Equivalence in SMN2 Splicing Activity

对一种拟建的通用型诺西那生（Nusinersen）进行比较表征：寡核苷酸结构的同一性及其在SMN2剪接活性方面的等效性

Lymphoid Organ Architecture and Hematopoiesis Disruption in Spinal Muscular Atrophy: Therapeutic Rescue by SMN Restoration.

脊髓性肌萎缩症中的淋巴器官结构和造血功能紊乱：SMN 恢复治疗挽救。

Examining the effectiveness of Don't Stop Me Now! (DSMN): a community-based sports intervention to promote social integration in adults with early psychosis - study protocol for a multicenter single-case multiple baseline design

检验“别阻止我！”（DSMN）项目的有效性：一项旨在促进早期精神病成人社会融合的社区体育干预——多中心单病例多基线设计研究方案

Toward Comprehensive Detection of the SMN1/2 Genotypes: Potential of Long-Read Sequencing in Routine SMA Genetic Testing

迈向SMN1/2基因型的全面检测：长读长测序在SMA常规基因检测中的应用潜力

A type IV spinal muscular atrophy with gastrocnemius pseudohypertrophy caused by SMN1 deletion: a case report and literature review

由SMN1基因缺失引起的伴腓肠肌假性肥大的IV型脊髓性肌萎缩症：病例报告及文献综述

First combined analysis of SMN1, SMN2, and NAIP copy numbers in Moroccan SMA patients and their correlation with disease severity

首次对摩洛哥脊髓性肌萎缩症（SMA）患者的SMN1、SMN2和NAIP拷贝数进行联合分析，并探讨其与疾病严重程度的相关性

Growth Hormone Strongly Induces hSMN2 Promoter Driving Construct Gene Expression in Mammalian Cells

生长激素强烈诱导哺乳动物细胞中hSMN2启动子驱动构建体基因的表达

Astrocyte targeted SMN1 gene therapy and forskolin application improves astrocyte filopodia actin defects and motor neuron synaptic dysfunction in human SMA disease pathology

星形胶质细胞靶向SMN1基因治疗和福斯克林应用可改善人类SMA疾病病理中的星形胶质细胞丝状伪足肌动蛋白缺陷和运动神经元突触功能障碍