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Clinicogenetic study of PINK1 mutations in autosomal recessive early-onset parkinsonism
The authors performed PINK1 mutation analysis of 51 families with autosomal recessive Parkinson disease (ARPD). They found two novel PINK1 mutations: one was a homozygous deletion (13516-18118del)Expand
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Progress in familial Parkinson's disease.
: To date 11 forms of familial Parkinson's disease (PD) have been mapped to different chromosome loci, of which 6 genes have been identified as the causative genes, i.e., alpha-synuclein (SNCA),Expand
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A novel mutation of CHCHD2 p.R8H in a sporadic case of Parkinson's disease.
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Variants in saposin D domain of prosaposin gene linked to Parkinson's disease.
Recently, the genetic variability in lysosomal storage disorders has been implicated in the pathogenesis of Parkinson's disease. Here, we found that variants in prosaposin (PSAP), a rare causativeExpand
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Nicorandil pretreatment and improved myocardial protection during cold blood cardioplegia.
OBJECTIVE The present study was designed to assess whether pretreatment with nicorandil enhanced myocardial protection provided by cold (15 degrees C) high-potassium (25 mmol/l) blood cardioplegiaExpand
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Involvement of the caudate nucleus head and its networks in sporadic amyotrophic lateral sclerosis-frontotemporal dementia continuum
Abstract We investigated common structural and network changes across the sporadic amyotrophic lateral sclerosis (ALS)-frontotemporal dementia (FTD) continuum. Based on cluster analysis using theExpand
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Regulatory role of extracellular matrix components in expression of matrix metalloproteinases in cultured hepatic stellate cells.
Hepatic stellate cells (HSCs) were changed in their morphology, proliferative activity, and functions by culturing on type I collagen gel, as compared to the culture on polystyrene surface. HSCs haveExpand
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Absence of Lewy pathology associated with PINK1 homozygous mutation
Mutations in the PTEN induced putative kinase 1 (PINK1) gene represent the second most frequent cause of autosomal recessive familial Parkinson disease (PD) next to parkin. There have been 2 reportsExpand
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Effects of the Chinese medicine, TSJN on insulin resistance and hypertension in fructose-fed rats.
The aim of this study was to determine the effect of Tang-Shen-Jiao-Nang (TSJN), a Chinese medicine used to treat diabetes mellitus, on insulin resistance and hypertension in fructose-fed rats (FFR).Expand
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Arylsulfatase A, a genetic modifier of Parkinson's disease, is an α-synuclein chaperone.
Mutations in lysosomal genes increase the risk of neurodegenerative diseases, as is the case for Parkinson's disease. Here, we found that pathogenic and protective mutations in arylsulfatase AExpand
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