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Phenotypic variability in chorea-acanthocytosis associated with novel VPS13A mutations
OBJECTIVE: To perform a comprehensive characterization of a cohort of patients with chorea-acanthocytosis (ChAc) in Sweden. METHODS: Clinical assessments, targeted genetic studies, neuroimaging with MRI, [(18)F]-fluorodeoxyglucose (FDG) PET, and dopamine transporter with (123)I FP-CIT (DaTscan) SPEC...
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| 出版年: | Neurol Genet |
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| 主要な著者: | , , , , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Wolters Kluwer
2020
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7217656/ https://ncbi.nlm.nih.gov/pubmed/32494755 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000426 |
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