Research output per year
Research output per year
Search results
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2023
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., 2023 Nov 28, (E-pub ahead of print) In: American Journal of Human Genetics.Research 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
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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
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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
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
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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
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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