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Giri A., Guven G., Hanagasi H. A., Hauser A., Erginul-Unaltuna N., Bilgic B., ...More
TREMOR AND OTHER HYPERKINETIC MOVEMENTS, vol.6, 2016 (ESCI)
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Publication Type:
Article / Article
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Volume:
6
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Publication Date:
2016
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Doi Number:
10.7916/d81g0m12
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Journal Name:
TREMOR AND OTHER HYPERKINETIC MOVEMENTS
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Journal Indexes:
Emerging Sources Citation Index (ESCI), Scopus
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Keywords:
PLA2G6, parkinsonism, LRRK2, DCNT1
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Istanbul University Affiliated:
Yes
Abstract
Background: PLA2G6-associated neurodegeneration (PLAN) is a recessive neurodegenerative disorder characterized by three distinct phenotypes: infantile neuroaxonal dystrophy (INAD), atypical neuroaxonal dystrophy (atypical NAD), and PLA2G6-related dystonia-parkinsonism.