Research output per year
Research output per year
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Dive into the research topics where Sigurd Dobloug 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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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 -
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 -
A Swedish SCA34 family with late onset ataxia, cerebellar atrophy and ocular movement abnormalities with a novel mutation in ELOVL4
Dobloug, S., Gorcenco, S., Ehrencrona, H. & Puschmann, A., 2023, In: Parkinsonism & Related Disorders. 113, Suppl, p. 72 P 204.Research output: Contribution to journal › Published meeting abstract › peer-review
Projects
- 1 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