Research output per year
Research output per year
Personal profile
Expertise related to UN Sustainable Development Goals
In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):
Subject classification (UKÄ)
- Neurology
Free keywords
- Genetics
- Neurogenetics
- Parkinson's disease
- Dystonia
- Ataxia
- Rare diseases
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Dive into the research topics where Andreas Puschmann is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Collaborations the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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GBA1 T369M and Parkinson's disease - Further evidence of a lack of association in the Swedish population
Brolin, K. A., Bäckström, D., Wallenius, J., Gan-Or, Z., Puschmann, A., Hansson, O. & Swanberg, M., 2025 Jan, In: Parkinsonism and Related Disorders. 130, 107191.Research output: Contribution to journal › Article › peer-review
Open Access -
Diagnosing Monogenic Stroke at Younger Age
Ilinca, A., Kafantari, E., Wallenius, J., Kristoffersson, U., Englund, E., Puschmann, A. & Lindgren, A. G., 2024 Dec 1, In: Stroke. 55, 12, p. 2846-2855 10 p.Research output: Contribution to journal › Article › peer-review
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Structural and Functional Characterization of the Most Frequent Pathogenic PRKN Substitution p.R275W
Bustillos, B. A., Cocker, L. T., Coban, M. A., Weber, C. A., Bredenberg, J. M., Boneski, P. K., Siuda, J., Slawek, J., Puschmann, A., Narendra, D. P., Graff-Radford, N. R., Wszolek, Z. K., Dickson, D. W., Ross, O. A., Caulfield, T. R., Springer, W. & Fiesel, F. C., 2024 Sept, In: Cells. 13, 18, 1540.Research output: Contribution to journal › Article › peer-review
Open Access -
Maculopathy and adult-onset ataxia in patients with biallelic MFSD8 variants
Dobloug, S., Kjellström, U., Anderson, G., Gardner, E., Mole, S. E., Sheth, J. & Puschmann, A., 2024 Aug, In: Molecular Genetics and Genomic Medicine. 12, 8, e2505.Research output: Contribution to journal › Article › peer-review
Open Access -
SCA4: Correlation of age of onset and ZFHX3 repeat length
Wallenius, J. & Puschmann, A., 2024 May 1, In: Parkinsonism and Related Disorders. 122, p. 29-30 106644.Research output: Contribution to journal › Published meeting abstract › peer-review
Projects
- 2 Active
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Genetic diagnostics of rare neurological diseases in adults
Puschmann, A. (Researcher) & Dobloug, S. (Research student)
2023/10/01 → …
Project: Research
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Investigating genetic causes of neurological movement disorders
Puschmann, A. (Researcher) & Kafantari, E. (Research student)
2021/06/01 → …
Project: Research