4 Article(s)Download |
PMID | Title | Pub. Year | #Total Relationships |
1 | 34326751 | Incidental Finding of MEGDEL Syndrome Based on Neuroimaging: Case Report. | 2021 May-Aug | 2 |
2 | 28916646 | SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family. | 2018 Jan | 2 |
3 | 25642805 | Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome. | 2015 Apr | 1 |
4 | 22683713 | Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. | 2012 Jun 10 | 3 |