Chorea-acanthocytosis presenting as epilepsy-sensitive molecular imaging and a novel VPS13A mutation

Weber Juliane; Frings Lars; Rijntjes Michel; Urbach Horst; Fischer Judith; Weiller Cornelius; Meyer Philipp Tobias; Klebe Stephan

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Chorea-acanthocytosis presenting as epilepsy-sensitive molecular imaging and a novel VPS13A mutation

机译：冠心膜 - 胰腺细胞症呈现为癫痫敏感分子成像和新型VPS13A突变

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来源
《Journal of neural transmission 》 |2019年第5期| 共1页
作者
Weber Juliane; Frings Lars; Rijntjes Michel; Urbach Horst; Fischer Judith; Weiller Cornelius; Meyer Philipp Tobias; Klebe Stephan;
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正文语种 eng
中图分类人体形态学 ;
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1. Chorea-acanthocytosis presenting as epilepsy-sensitive molecular imaging and a novel VPS13A mutation [J] . Weber Juliane, Frings Lars, Rijntjes Michel, Journal of neural transmission . 2019 ,第5期

机译：冠心膜 - 胰腺细胞症呈现为癫痫敏感分子成像和新型VPS13A突变
2. Phenotypic variability in chorea-acanthocytosis associated with novel VPS13A mutations [J] . Valter Niemel?, Ammar Salih, Daniela Solea, Neurology: Genetics . 2020 ,第3期

机译：与新型VPS13A突变相关的孔子 - 胰腺细胞增生的表型变异性
3. Novel pathogenic VPS13A gene mutations in Japanese patients with chorea-acanthocytosis [J] . Yoshiaki Nishida, Masayuki Nakamura, Yuka Urata, Neurology: Genetics . 2019 ,第3期

机译：日本冠孢子症患者中的新型致病VPS13A基因突变
4. Detecting Rare Mutations in Cell-Free DNA by Integrating an Ultrafast Amplicon-Based Targeted Library Preparation Method with Double-Stranded Unique Molecular Identifiers [C] . Yang Lily Liu International Molecular Medicine Tri-Conference. . 2019

机译：通过与双链独特的分子标识符集成超速率扩增子靶向文库制备方法，通过与双链独特的分子标识符进行整合来检测无细胞DNA的罕见突变
5. Exploring the Molecular Evolution of Proteins with Deep Mutational Scanning [D] . Faber, Matthew Steven. 2019

机译：探索深静脉扫描蛋白质的分子演变
6. Phenotypic variability in chorea-acanthocytosis associated with novel VPS13A mutations [O] . Valter Niemelä, Ammar Salih, Daniela Solea, 2020

机译：与新的VPS13A突变相关的舞蹈性棘皮症的表型变异
7. Novel VPS13A Gene Mutations Identified in Patients Diagnosed with Chorea-acanthocytosis (ChAc): Case Presentation and Literature Review [O] . Yan Shen, Xiaoming Liu, Xi Long, 2017

机译：诊断为舞蹈病 - 棘细胞病（Chac）的患者中发现的新型Vps13a基因突变：病例报告和文献综述

Chorea-acanthocytosis presenting as epilepsy-sensitive molecular imaging and a novel VPS13A mutation

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