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Decreased Penetrance of Parkinson's Disease in Elderly Carriers of Glucocerebrosidase Gene L444P/R Mutations: A Community-Based 10-Year Longitudinal Study

期刊: MOVEMENT DISORDERS, 2020; 35 (4)

Background Heterozygous mutations in the glucocerebrosidase gene (GBA) have been shown to be an important genetic risk factor for Parkinson's disease ......

MYORG mutation heterozygosity is associated with brain calcification

期刊: MOVEMENT DISORDERS, 2020; 35 (4)

Background Biallelic mutations in the MYORG gene were first identified as the cause of recessively inherited primary familial brain calcification. Int......

The Phenotypic and Genetic Spectrum of Paroxysmal Kinesigenic Dyskinesia in China

期刊: MOVEMENT DISORDERS, 2020; 35 (8)

Background Paroxysmal kinesigenic dyskinesia is a spectrum of involuntary dyskinetic disorders with high clinical and genetic heterogeneity. Mutations......

Magnetic Resonance Imaging and Neurofilament Light in the Differentiation of Parkinsonism

期刊: MOVEMENT DISORDERS, 2020; 35 (8)

Objective Accurate diagnosis is particularly challenging in Parkinson's disease (PD), multiple system atrophy (MSAp), and progressive supranuclear pal......

The GRIA3 c.2477G > A Variant Causes an Exaggerated Startle Reflex, Chorea, and Multifocal Myoclonus

期刊: MOVEMENT DISORDERS, 2020; 35 (7)

Background Hemizygous mutations in GRIA3 encoding the GluA3 subunit of the amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor are known to be......

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