过去一年中添加的文章,按日期排序
A novel ATP13A2 variant causing complicated hereditary spastic paraplegia
F Zhang, P Liu, J Li, Z Cen, W Luo - Neurological Sciences, 2024 - Springer
176 天前 - … is a monogenic causative gene of Parkinson’s disease, … Our report broadens the
genetic and phenotypic spectrum … fully elucidate the mechanism linking ATP13A2 variants to …
genetic and phenotypic spectrum … fully elucidate the mechanism linking ATP13A2 variants to …
GRN mutation spectrum and genotype–phenotype correlation in Chinese dementia patients: data from PUMCH dementia cohort
…, J Wang, J Li, X Huang, D Lei, C Mao, S Chu… - Journal of Medical …, 2024 - jmg.bmj.com
181 天前 - … of function type, are causative of frontotemporal dementia (FTD)… over 300 GRN
mutations reported globally. However, the … have not been fully elucidated in Chinese population. …
mutations reported globally. However, the … have not been fully elucidated in Chinese population. …
Biallelic COQ4 Variants in Hereditary Spastic Paraplegia: Clinical and Molecular Characterization
…, K Yang, Y Shi, M Wang, SL Hsu, S Hong… - … Disorders, 2024 - Wiley Online Library
230 天前 - … COQ4 mutations in HSP and elucidate the clinical, genetic, and functional molecular
… HSP causal genes. Clinical data obtained from patients harboring candidate causal …
… HSP causal genes. Clinical data obtained from patients harboring candidate causal …
Author Correction: Elucidating causative gene variants in hereditary Parkinson's disease in the Global Parkinson's Genetics Program (GP2)
306 天前 - … In this article the Global Parkinson’s Genetics Program (GP2) members names
and affiliations were missing in the main author list of the Original article which are listed in the …
and affiliations were missing in the main author list of the Original article which are listed in the …