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Year | Number of Results |
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Page 1
New generation genetic testing entering the clinic.
Parkinsonism Relat Disord. 2020 Apr;73:72-84. doi: 10.1016/j.parkreldis.2020.02.015. Epub 2020 Mar 2.
Parkinsonism Relat Disord. 2020.
PMID: 32273229
Free article.
Review.
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.
Wallenius J, et al. Among authors: kafantari e.
Am J Hum Genet. 2024 Jan 4;111(1):82-95. doi: 10.1016/j.ajhg.2023.11.008. Epub 2023 Nov 29.
Am J Hum Genet. 2024.
PMID: 38035881
Free PMC article.
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A relatively common hypomorphic variant in WARS2 causes monogenic disease.
Ilinca A, Kafantari E, Puschmann A.
Ilinca A, et al. Among authors: kafantari e.
Parkinsonism Relat Disord. 2022 Jan;94:129-131. doi: 10.1016/j.parkreldis.2022.01.012. Epub 2022 Jan 19.
Parkinsonism Relat Disord. 2022.
PMID: 35074316
No abstract available.
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Do variants in IRF2BPL cause both neurological disorders and keratoconus 8?
Kafantari E, Andréasson S, Säll T, Puschmann A.
Kafantari E, et al.
Parkinsonism Relat Disord. 2020 Oct;79:138-140. doi: 10.1016/j.parkreldis.2020.10.021. Epub 2020 Oct 12.
Parkinsonism Relat Disord. 2020.
PMID: 33069610
No abstract available.
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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 AG, Puschmann A.
Ilinca A, et al. Among authors: kafantari e.
Neurol Genet. 2021 Jan 21;7(1):e548. doi: 10.1212/NXG.0000000000000548. eCollection 2021 Feb.
Neurol Genet. 2021.
PMID: 33728376
Free PMC article.
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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.
Gorcenco S, et al. Among authors: kafantari e.
J Neurol. 2024 Jan;271(1):526-542. doi: 10.1007/s00415-023-11990-x. Epub 2023 Oct 3.
J Neurol. 2024.
PMID: 37787810
Free PMC article.
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