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 Parkinsons disease, … Our report broadens the
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. …

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

Author Correction: Elucidating causative gene variants in hereditary Parkinson's disease in the Global Parkinson's Genetics Program (GP2)

LM Lange, M Avenali, M Ellis, A Illarionova… - … Parkinson's Disease, 2023 - nature.com
306 天前 - … In this article the Global Parkinsons Genetics Program (GP2) members names
and affiliations were missing in the main author list of the Original article which are listed in the …