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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Pubblicato in:Neurol Genet
Autori principali: Niemelä, Valter, Salih, Ammar, Solea, Daniela, Lindvall, Björn, Weinberg, Jan, Miltenberger, Gabriel, Granberg, Tobias, Tzovla, Aikaterini, Nordin, Love, Danfors, Torsten, Savitcheva, Irina, Dahl, Niklas, Paucar, Martin
Natura: Artigo
Lingua:Inglês
Pubblicazione: Wolters Kluwer 2020
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Article
Accesso online: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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