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Article
Open AccessNusinersen effectiveness and safety in pediatric patients with 5q-spinal muscular atrophy: a multi-center disease registry in China
To evaluate the effectiveness and safety of nusinersen for the treatment of 5q-spinal muscular atrophy (SMA) among Chinese pediatric patients.
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Article
Open AccessNeural substrates of propranolol-induced impairments in the reconsolidation of nicotine-associated memories in smokers
The majority of smokers relapse even after successfully quitting because of the craving to smoking after unexpectedly re-exposed to smoking-related cues. This conditioned craving is mediated by reward memories...
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Article
MicroRNA-425-5p promotes tau phosphorylation and cell apoptosis in Alzheimer’s disease by targeting heat shock protein B8
Alzheimer’s disease (AD) is the most prevalent and age-related dementia accompanied by neurodegenerative disorder, memory loss, and abnormal behaviors. Recent studies have shown an increasing interest in study...
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Article
A presenilin-1 mutation causes Alzheimer disease without affecting Notch signaling
Presenilin-1 (PSEN1) is the catalytic subunit of the γ-secretase complex, and pathogenic mutations in the PSEN1 gene account for the majority cases of familial AD (FAD). FAD-associated mutant PSEN1 proteins have ...
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Article
Open AccessLoss of vesicular dopamine release precedes tauopathy in degenerative dopaminergic neurons in a Drosophila model expressing human tau
While a number of genome-wide association studies have identified microtubule-associated protein tau as a strong risk factor for Parkinson’s disease (PD), little is known about the mechanism through which huma...
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Article
A 14 bp indel variation in the NCX1 gene modulates the age at onset in late-onset Alzheimer’s disease
Calcium homeostasis is critical to amyloid beta precursor protein (APP) processing. Na+/Ca2+ exchanger (NCX) proteins play an important role in maintaining intracellular Na+ and Ca2+ homeostasis in the brain unde...
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Article
Association analysis of CβS 844ins68 and MTHFD1 G1958A polymorphisms with Alzheimer’s disease in Chinese
Folate deficiency and elevated plasma homocysteine play important roles in pathogenesis of Alzheimer’s disease (AD). The aim of this study was to test the association of folate metabolism-related genes, cystat...
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Chapter and Conference Paper
Genetic and DAT imaging studies of familial parkinsonism in a Taiwanese cohort
We here summarize the results of genetic investigations on a series of 82 parkinsonian patients from 60 families in Taiwan. We found 13 parkin patients in 7 families (12%), 2 PINK1 sibs from 1 family, and 1 LRRK2