Andreas Puschmann

Key Publications
TOR1AIP2 as a candidate gene for dystonia-hemichorea/hemiballism
Parkinsonism & Related Disorders, 2025
Diagnosing Monogenic Stroke at Younger Age
Stroke, 2024
Structural and Functional Characterization of the Most Frequent Pathogenic PRKN Substitution p.R275W
Cells, 2024
Maculopathy and adult‐onset ataxia in patients with biallelic MFSD8 variants
Molecular Genetics & Genomic Medicine, 2024
IsGBA1T369M not a risk factor for Parkinson’s disease in the Swedish population?
2024

We study mono-, oligo- and polygenic causes for neurological disorders, including Parkinson disease, ataxias, dystonias, neurometabolic disorders and other rare diseases. 

Group Members:

Efthymia Kafantari, MSc, MSc, PhD candidate
Joel Wallenius, MSc, MSc
Sorina Gorcenco, MD, PhD
Andreea Ilinca, MD, PhD
Sigurd Dobloug, MD, PhD candidate

Last updated: 2025-03-28

Content Responsible: Hampus Pehrsson Ternström(hampus.persson@scilifelab.uu.se)