[HTML][HTML] Case Report Two Chinese Boys with Non-dystrophic Myotonia: Overview and Experience with Use of Mexiletine and Carbamazepine 非營養不良性肌強直 …

WL Lau, CH Ko, HHC Lee, CM Mak - HK J Paediatr (new series), 2019 - hkjpaed.org
… distinguished from myotonic dystrophy by the … myotonia with and without clinical myotonia,
in non-specific cases specialised neurophysiological protocols can help direct target genetic

[PDF][PDF] 强直性肌营养不良症1 型一例

吴旭玲, 张安妮, 雷晓阳, 冯占辉, 王维, 贺电 - 中国现代神经疾病杂志, 2023 - cjcnn.org
… Parental repeat length instability in myotonic dystrophy type 1 pre ⁃ … of myotonic dystrophy
type 1 using genetic analysis of … molecular aspects of the myotonic dystrophies: a review[J]. …

白藜芦醇可纠正强直性肌营养不良1 型肌管中RYR1 的异常剪接

M Santoro, R Piacentini, A Perna, E Pisano… - 中国神经再生研究 …, 2020 - sjzsyj.com.cn
Myotonic dystrophy type 1 (DM1) is a spliceopathy related to the mis-splicing of several
genes caused by sequestration of nuclear transcriptional RNA-binding factors from non-coding …

circRNA 及其调控动物骨骼肌发育研究进展

郑婷, 甘麦邻, 沈林園, 牛丽莉, 郭宗义, 王金勇… - 遗传, 2020 - chinagene.cn
… In this review, we summarize the types of molecular regulatory mechanisms, the classical
research ideas and the functional research methods of circRNAs, and the research progress of …

神经棘红细胞增多症的临床及遗传特征

L Zhang, S Wang, J Lin - 中国神经再生研究(英文版), 2013 - sjzsyj.com.cn
… Because the clinical manifestations are diverse and complicated, in this review we present
features of inheritance, age of onset, neuroimaging and laboratory findings, as well as the …

[PDF][PDF] 膜联蛋白在骨骼肌质膜损伤修复中的作用研究进展

吴柏乐, 吴迎 - 生命科学, 2022 - lifescience.sinh.ac.cn
… In this paper, we review the structure and function of ANXs … injury and the role of ANXs in
myotonic dystrophy, and sort out the … repair and treatment of myotonic dystrophy. Key words: …

长期维生素B1 干预可改善1 型肌强直性营养不良临床结局吗?

A Costantini, E Trevi, MI Pala, R Fancellu - 中国神经再生研究(英文版), 2016 - sjzsyj.com.cn
… in myotonic dystrophy type 1 in an observational open-label pilot study. We described two
patients with myotonic dystrophy … Peer review: This paper was double-blinded and stringently …

重复引物PCR 技术在超大片段动态突变疾病基因检测中的应用进展

陈晟, 吴志英 - 遗传, 2014 - chinagene.cn
… diagnoses for dynamic mutation diseases, such as myotonic dystrophy, Friedreich’s ataxia,
… Here, we review the principle of repeat-primed PCR assay and its advances on the genetic

[HTML][HTML] 以早发糖尿病首诊的强直性肌营养不良1 型1 例

万金晶, 赵立玲, 金萍 - Journal of Central South University Medical …, 2023 - ncbi.nlm.nih.gov
… 强直性肌营养不良1型(myotonic dystrophy type 1,DM1)为罕见的常… Myotonic dystrophy type
1: a case report and literature review… A case of myotonic dystrophy type 1 with chest pain and …

肌盲样蛋白1 在恶性肿瘤中作用的研究进展

朱楠, 刘炳亚, 俞焙秦 - 上海交通大学学报(医学版), 2022 - xuebao.shsmu.edu.cn
… MBNL1 was first considered as a contributing factor in the pathogenesis of myotonic dystrophy.
… The present review summarizes the molecular mechanism, biological characteristics, …