A novel deletion mutation in EPM2A underlies progressive myoclonic epilepsy (Lafora body disease) in a Pakistani family [0.03%]
EPM2A中的新缺失突变导致巴基斯坦家庭的进行性肌阵挛癫痫（Lafora体疾病）
Fizza Orooj,Umm-E-Kalsoom,XiaoChu Zhao et al.
Fizza Orooj et al.
Lafora body disease (MIM-254780), a glycogen storage disease, characterized by Lafora bodies (deformed glycogen molecules) accumulating in multiple organs, is a rare form of myoclonic epilepsy. It manifests in early adolescent years, initia...
Tinu Varghese,R Sheelakumari,Jija S James et al.
Tinu Varghese et al.
Neuroimaging biomarkers have potential role in the early diagnosis as well as periodic follow-up of neurodegenerative diseases such as Alzheimer's disease (AD). Structural imaging biomarkers can be used to predict those who are at risk or i...
Is initial preservation of deep tendon reflexes in West Nile Virus paralysis a good prognostic sign? [0.03%]
西尼罗病毒性麻痹初期深腱反射保存良好是否预示着好的预后？
Deb Kumar Mojumder,Melina Agosto,Henrik Wilms et al.
Deb Kumar Mojumder et al.
Typical West Nile virus paralysis is characterized by muscle weakness, decreased tone, and loss of deep tendon reflexes attributed to destruction of anterior horn cells. Two cases in which deep tendon reflexes were initially preserved in th...