Efthymia Kafantari - Research output - Lund University

Emailefthymia.kafantarimed.luse

5 Article
4 Published meeting abstract
2 Debate/Note/Editorial

11 results

2024
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
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
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. 526-542
Research 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. 82-95
Research output: Contribution to journal › Article › peer-review

Open Access
2023
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
Whole exome sequencing of familial, combined or complex dystonia
Kafantari, E. & Puschmann, A., 2023, In: Parkinsonism & Related Disorders. 113, Supp, p. 65-66 P186.
Research output: Contribution to journal › Published meeting abstract › peer-review
2022

A relatively common hypomorphic variant in WARS2 causes monogenic disease
Ilinca, A., Kafantari, E. & Puschmann, A., 2022 Jan, In: Parkinsonism and Related Disorders. 94, p. 129-131 3 p.
Research output: Contribution to journal › Debate/Note/Editorial

Open Access
2021
MAP3K6 Mutations in a Neurovascular Disease Causing Stroke, Cognitive Impairment, and Tremor
Ilinca, A., Englund, E., Samuelsson, S., Truvé, K., Kafantari, E., Martinez-Majander, N., Putaala, J., Håkansson, C., Lindgren, A. G. & Puschmann, A., 2021 Feb, In: Neurology: Genetics. 7, 1, e548.
Research output: Contribution to journal › Article › peer-review

Open Access
2020

Do variants in IRF2BPL cause both neurological disorders and keratoconus 8?
Kafantari, E., Andréasson, S., Säll, T. & Puschmann, A., 2020 Oct, In: Parkinsonism and Related Disorders. 79, p. 138-140 3 p.
Research output: Contribution to journal › Debate/Note/Editorial
New generation genetic testing entering the clinic
Gorcenco, S., Ilinca, A., Almasoudi, W., Kafantari, E., Lindgren, A. G. & Puschmann, A., 2020 Apr 1, In: Parkinsonism and Related Disorders. 73, p. 72-84 13 p.
Research output: Contribution to journal › Article › peer-review

Open Access
Ataxia project in Scania, Sweden: Study outline and current status
Gorcenco, S., Karremo, C., Kafantari, E. & Puschmann, A., 2020, In: Parkinsonism & Related Disorders. 79, Suppl 1, p. e112 A 400.
Research output: Contribution to journal › Published meeting abstract › peer-review