Utility and implications of exome sequencing in early‐onset Parkinson's disease
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Title
Utility and implications of exome sequencing in early‐onset Parkinson's disease
Authors
Keywords
-
Journal
MOVEMENT DISORDERS
Volume -, Issue -, Pages -
Publisher
Wiley
Online
2018-12-11
DOI
10.1002/mds.27559
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Related references
Note: Only part of the references are listed.- Diagnostic exome sequencing in early-onset Parkinson's disease confirms VPS13C as a rare cause of autosomal-recessive Parkinson's disease
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- Genetics of early-onset Parkinson's disease in Finland: exome sequencing and genome-wide association study
- (2017) Ari Siitonen et al. NEUROBIOLOGY OF AGING
- Whole-exome sequencing of 228 patients with sporadic Parkinson’s disease
- (2017) Cynthia Sandor et al. Scientific Reports
- Identification of TMEM230 mutations in familial Parkinson's disease
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- Whole-Exome Sequencing in Familial Parkinson Disease
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- DNAJC13genetic variants in parkinsonism
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- A general framework for estimating the relative pathogenicity of human genetic variants
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- An exome study of Parkinson’s disease in Sardinia, a Mediterranean genetic isolate
- (2014) Marialuisa Quadri et al. NEUROGENETICS
- PINK1 Loss-of-Function Mutations Affect Mitochondrial Complex I Activity via NdufA10 Ubiquinone Uncoupling
- (2014) V. A. Morais et al. SCIENCE
- DNAJC13 mutations in Parkinson disease
- (2013) Carles Vilariño-Güell et al. HUMAN MOLECULAR GENETICS
- STX6 rs1411478 is not associated with increased risk of Parkinson's disease
- (2013) Joanne Trinh et al. PARKINSONISM & RELATED DISORDERS
- Tissue-specific and Nutrient Regulation of the Branched-chain α-Keto Acid Dehydrogenase Phosphatase, Protein Phosphatase 2Cm (PP2Cm)
- (2012) Meiyi Zhou et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Using SIFT and PolyPhen to Predict Loss-of-Function and Gain-of-Function Mutations
- (2010) Sarah E. Flanagan et al. Genetic Testing and Molecular Biomarkers
- MutationTaster evaluates disease-causing potential of sequence alterations
- (2010) Jana Marie Schwarz et al. NATURE METHODS
- PINK1 Is Selectively Stabilized on Impaired Mitochondria to Activate Parkin
- (2010) Derek P. Narendra et al. PLOS BIOLOGY
- Bilateral subthalamic stimulation in Parkin and PINK1 parkinsonism
- (2008) E. Moro et al. NEUROLOGY
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