Research output per year
Research output per year
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Dive into the research topics where Efthymia Kafantari is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
- 1 Similar Profiles
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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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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TorsinA-interacting protein 2 (TOR1AIP2) variants in an autosomal dominant combined dystonia-hemichorea-hemiballismus syndrome in two families
Kafantari, E., Hernandez , V. J., Necpál, J., Leonidou, M., Baureder, R., Jech, R., Zech, M., Schwartz, T. U. & Puschmann, A., 2024 May 1, In: Parkinsonism and Related Disorders. 122, p. 6 106574.Research output: Contribution to journal › Published meeting abstract › peer-review
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Clinical and genetic analyses of a Swedish patient series diagnosed with ataxia
Gorcenco, S., Kafantari, E., Wallenius, J., Karremo, C., Alinder, E., Dobloug, S., Landqvist Waldö, M., Englund, E., Ehrencrona, H., Wictorin, K., Karrman, K. & Puschmann, A., 2024, In: Journal of Neurology. 271, 1, p. 526-542Research output: Contribution to journal › Article › peer-review
Open Access -
Exonic trinucleotide repeat expansions in ZFHX3 cause spinocerebellar ataxia type 4: A poly-glycine disease
Wallenius, J., Kafantari, E., Jhaveri, E., Gorcenco, S., Ameur, A., Karremo, C., Dobloug, S., Karrman, K., de Koning, T., Ilinca, A., Landqvist Waldö, M., Arvidsson, A., Persson, S., Englund, E., Ehrencrona, H. & Puschmann, A., 2024, In: American Journal of Human Genetics. 111, 1, p. 82-95Research output: Contribution to journal › Article › peer-review
Open Access -
Genomic analyses of a large Swedish multi-incident kindred with autosomal dominant Parkinson’s disease with dementia
Rödström, E. Y., Soto-Beasley, A., Englund, E., Kafantari, E., Dickson, D. W., Wszolek, Z. K., Puschmann, A. & Ross, O. A., 2023, In: Parkinsonism & Related Disorders. 113, Supp, p. 28-29 P 062 (GPT).Research output: Contribution to journal › Published meeting abstract › peer-review
Projects
- 1 Active
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Investigating genetic causes of neurological movement disorders
Puschmann, A. (Researcher) & Kafantari, E. (Research student)
2021/06/01 → …
Project: Research