MD, Ph.d. Clinical research associate professor
Clinical and paraclinical aspects including molecular genetics and functional molecular biology of inherited neurodegenerative disorders.
Spinocerebellar ataxia type 2 (SCA2), Huntington's Disease, Frontotemporal dementia caused by CHMP2B mutation (FTD3) and Hereditary Spastic Paraplegia.
"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.
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ID: 17099