发文地区与机构
近年国家 / 地区发文量统计
| 国家 / 地区 | 发文量 |
|---|---|
| USA | 127 |
| England | 39 |
| Canada | 38 |
| GERMANY (FED REP GER) | 33 |
| France | 27 |
| Italy | 25 |
| Australia | 21 |
| Japan | 20 |
| Netherlands | 19 |
| Sweden | 19 |
近年机构发文量统计
| 机构 | 发文量 |
|---|---|
| UNIVERSITY OF LONDON | 23 |
| HARVARD UNIVERSITY | 20 |
| INSTITUT NATIONAL DE LA SANTE ET DE LA ... | 19 |
| UNIVERSITY OF CALIFORNIA SYSTEM | 18 |
| UNIVERSITY OF TORONTO | 15 |
| ASSISTANCE PUBLIQUE HOPITAUX PARIS (APH... | 14 |
| MAYO CLINIC | 14 |
| UNIVERSITY OF MIAMI | 14 |
| UNIVERSITY OF PENNSYLVANIA | 14 |
| MASSACHUSETTS GENERAL HOSPITAL | 13 |
文章引用情况
1
Homozygous CAPN1 mutations causing a spastic-ataxia phenotype in 2 families2
Expanding the phenotype of de novo SLC25A4-linked mitochondrial disease to include mild myopathy3
De novo DNM1L mutation associated with mitochondrial epilepsy syndrome with fever sensitivity4
Plasticity-related gene 3 (LPPR1) and age at diagnosis of Parkinson disease5
Increased KCNJ18 promoter activity as a mechanism in atypical normokalemic periodic paralysis6
Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function7
Late-onset and acute presentation of Brown-Vialetto-Van Laere syndrome in a Brazilian family8
SCN11A Arg225Cys mutation causes nociceptive pain without detectable peripheral nerve pathology9
Association study between multiple system atrophy and TREM2 p.R47H10
Case of late-onset Sandhoff disease due to a novel mutation in the HEXB gene