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Region Hovedstaden - en del af Københavns Universitetshospital
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Expertise

Clinical and paraclinical aspects including molecular genetics and functional molecular biology of inherited neurodegenerative disorders.

Primære forskningsområder

Spinocerebellar ataxia type 2 (SCA2), Huntington's Disease, Frontotemporal dementia caused by CHMP2B mutation (FTD3) and Hereditary Spastic Paraplegia. 

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Aktuel forskning

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)

 

Mulige interessekonflikter

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