| Title: | Two cases of SPEN haploinsufficiency presenting with dystonia : expanding the genotype and phenotype |
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| Authors: | ID Buikema, Lisa (Author)
ID Lokar, Matej (Author)
ID Vinke, Ruben Saman (Author)
ID Peterlin, Borut (Author)
ID Bergant, Gaber (Author)
ID Georgiev, Dejan (Author) |
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| Files: |  PDF - Presentation file, download (694,98 KB)
MD5: B174F1572EF35554DC9D77398E0AABD6
 URL - Source URL, visit https://movementdisorders.onlinelibrary.wiley.com/doi/10.1002/mdc3.70531
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| Language: | English |
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| Typology: | 1.03 - Other scientific articles |
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| Organization: |  UKC LJ - Ljubljana University Medical Centre
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| Keywords: | dystonia, tremor, SPEN protein, haploinsuficiency, subjective well-being, chromosome 1p36, deletion syndrome, intellectual disability |
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| Publication status: | Published |
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| Publication version: | Version of Record |
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| Year of publishing: | 2026 |
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| Number of pages: | str. 1550-1553 |
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| Numbering: | Vol. 13, iss. 6 |
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| PID: | 20.500.12556/DiRROS-30703  |
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| UDC: | 616.8 |
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| ISSN on article: | 2330-1619 |
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| DOI: | 10.1002/mdc3.70531 |
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| COBISS.SI-ID: | 264612099 |
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| Note: | Nasl. z nasl. zaslona;
Opis z dne 14. 1. 2026;
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| Publication date in DiRROS: | 01.07.2026 |
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| Views: | 112 |
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| Downloads: | 111 |
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| Metadata: |    |
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