Research
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Rigshospitalet
- a part of Copenhagen University Hospital
Jørgen Erik Nielsen
MD, Ph.d. Clinical research associate professor
Expertises
Clinical and paraclinical aspects including molecular genetics and functional molecular biology of inherited neurodegenerative disorders.
Main research areas
Spinocerebellar ataxia type 2 (SCA2), Huntington's Disease, Frontotemporal dementia caused by CHMP2B mutation (FTD3) and Hereditary Spastic Paraplegia.
"Current research
Elucidating the pathogenic mechanisms of spinocerebellar ataxia 2 (SCA2) by genetically manipulating primary patient cells and assessing their response to drugs affecting the proteostatic system.
Huntington’s Disease: Endophenotypes, biomarkers and pluripotent stem cell-derived neuronal models.
Clinical and molecular aspects of frontotemporal dementia linked to chromosome 3 (FTD3)
Potential conflicts of interest
None
ID: 17099