Safety, Costs, and Ethical Issues in Drug Development and Gene Therapy for Rare Diseases [0.03%]
罕见病药物研发及基因治疗中的安全性、成本与伦理问题
Nicholas Johnson,A Gordon Smith
Nicholas Johnson
Scientific advances have provided the ability to modify the course of genetic diseases through the use of genetic therapies. These therapies include RNA-based approaches that either reduce the translation of a toxic protein or skip exons to...
Dystrophinopathies [0.03%]
杜氏肌营养不良症
Divya Jayaraman,Partha S Ghosh
Divya Jayaraman
Objective: This article provides an overview of the dystrophinopathies, which are primary muscle disorders inherited in an X-linked recessive fashion due to pathogenic variants in DMD on chromosome Xp21 encoding the prote...
Douglas J Gelb,Nuri Jacoby
Douglas J Gelb
Multiple System Atrophy [0.03%]
多系统萎缩症
Tao Xie
Tao Xie
Objective: This article provides up-to-date diagnosis and management concepts for patients with multiple system atrophy, a rare, sporadic, adult-onset, progressive, and fatal neurodegenerative disorder that is characteriz...
Kathryn P L Moore
Kathryn P L Moore
Objective: This article presents a systematic approach to the diagnosis and management of choreiform disorders, focusing on Huntington disease (HD) as a model. ...
Theresa A Zesiewicz
Theresa A Zesiewicz
Objective: Ataxia refers to incoordination that may occur in isolation or as part of many conditions. This article provides a framework for the clinical recognition and treatment of ataxia. ...
In Brains We Trust [0.03%]
我们信赖的头脑
Lyell K Jones Jr
Lyell K Jones Jr