Efthymia Kafantari

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2024
Mark Exonic trinucleotide repeat expansions in ZFHX3 cause spinocerebellar ataxia type 4 : A poly-glycine disease
Wallenius, Joel ^LU ; Kafantari, Efthymia ^LU ; Jhaveri, Emma ; Gorcenco, Sorina ^LU ; Ameur, Adam ; Karremo, Christin ^LU ; Dobloug, Sigurd ^LU ; Karrman, Kristina ^LU ; de Koning, Tom ^LU and Ilinca, Andreea ^LU , et al. (2024) In American Journal of Human Genetics 111(1). p.82-95
- Contribution to journal › Article
Mark TorsinA-interacting protein 2 (TOR1AIP2) variants in an autosomal dominant combined dystonia-hemichorea-hemiballismus syndrome in two families
Kafantari, Efthymia ^LU ; Hernandez, Victoria J. ; Necpál, Jan ; Leonidou, Marina ; Baureder, Regina ^LU ; Jech, Robert ; Zech, Michael ; Schwartz, Thomas U. and Puschmann, Andreas ^LU (2024) In Parkinsonism and Related Disorders 122. p.6-6
- Contribution to journal › Published meeting abstract
Mark Diagnosing Monogenic Stroke at Younger Age
Ilinca, Andreea ^LU ; Kafantari, Efthymia ^LU ; Wallenius, Joel ^LU ; Kristoffersson, Ulf ^LU ; Englund, Elisabet ^LU ; Puschmann, Andreas ^LU and Lindgren, Arne G. ^LU (2024) In Stroke 55(12). p.2846-2855
- Contribution to journal › Article
Mark Clinical and genetic analyses of a Swedish patient series diagnosed with ataxia
Gorcenco, Sorina ^LU ; Kafantari, Efthymia ^LU ; Wallenius, Joel ^LU ; Karremo, Christin ^LU ; Alinder, Erik ; Dobloug, Sigurd ^LU ; Landqvist Waldö, Maria ^LU ; Englund, Elisabet ^LU ; Ehrencrona, Hans ^LU and Wictorin, Klas ^LU , et al. (2024) In Journal of Neurology 271(1). p.526-542
- Contribution to journal › Article
2023
Mark Whole exome sequencing of familial, combined or complex dystonia
Kafantari, E. ^LU and Puschmann, A. ^LU (2023) In Parkinsonism & Related Disorders 113(Supp). p.65-66
- Contribution to journal › Published meeting abstract
Mark Genomic analyses of a large Swedish multi-incident kindred with autosomal dominant Parkinson’s disease with dementia
Rödström, E. Ygland ^LU ; Soto-Beasley, A. ; Englund, E. ^LU ; Kafantari, E. ^LU ; Dickson, D.W. ; Wszolek, Z.K. ; Puschmann, A. ^LU and Ross, O.A. (2023) In Parkinsonism & Related Disorders 113(Supp). p.28-29
- Contribution to journal › Published meeting abstract
2022
Mark A relatively common hypomorphic variant in WARS2 causes monogenic disease
Ilinca, Andreea ^LU ; Kafantari, Efthymia ^LU and Puschmann, Andreas ^LU (2022) In Parkinsonism and Related Disorders 94. p.129-131
- Contribution to journal › Debate/Note/Editorial
2021
Mark MAP3K6 Mutations in a Neurovascular Disease Causing Stroke, Cognitive Impairment, and Tremor
Ilinca, Andreea ^LU ; Englund, Elisabet ^LU ; Samuelsson, Sofie ^LU ; Truvé, Katarina ; Kafantari, Efthymia ^LU ; Martinez-Majander, Nicolas ; Putaala, Jukka ; Håkansson, Claes ^LU ; Lindgren, Arne G ^LU and Puschmann, Andreas ^LU (2021) In Neurology: Genetics 7(1).
- Contribution to journal › Article
2020
Mark Ataxia project in Scania, Sweden: Study outline and current status
Gorcenco, Sorina ^LU ; Karremo, Christin ^LU ; Kafantari, Efthymia ^LU and Puschmann, Andreas ^LU (2020) In Parkinsonism & Related Disorders 79(Suppl 1). p.112-112
- Contribution to journal › Published meeting abstract
Mark Do variants in IRF2BPL cause both neurological disorders and keratoconus 8?
Kafantari, Efthymia ^LU ; Andréasson, Sten ^LU ; Säll, Torbjörn ^LU and Puschmann, Andreas ^LU (2020) In Parkinsonism and Related Disorders 79. p.138-140
- Contribution to journal › Debate/Note/Editorial

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