CHCHD2 gene mutations in familial and sporadic Parkinson's disease

Abstract Mutations in CHCHD2 gene have been reported in autosomal dominant Parkinson's disease (ADPD). However, there is still lack of evidence supported CHCHD2 mutations lead to ADPD in other populations. We performed whole exome sequencing, positron emission tomography (PET), and haplotype an...

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Veröffentlicht in:	Neurobiology of aging 2016-02, Vol.38, p.217.e9-217.e13
Hauptverfasser:	Shi, Chang-he, Mao, Cheng-yuan, Zhang, Shu-yu, Yang, Jing, Song, Bo, Wu, Ping, Zuo, Chuan-tao, Liu, Yu-tao, Ji, Yan, Yang, Zhi-hua, Wu, Jun, Zhuang, Zheng-ping, Xu, Yu-ming
Format:	Artikel
Sprache:	eng
Schlagworte:	ADPD Caudate Nucleus - metabolism CHCHD2 Dopamine Plasma Membrane Transport Proteins - metabolism Exome - genetics Genes, Dominant - genetics Genetic Association Studies Haplotypes Internal Medicine Mitochondrial Proteins - genetics Mutation - genetics Neurology Parkinson Disease - genetics Parkinson Disease - metabolism Pedigree PET Polymorphism, Single Nucleotide Positron-Emission Tomography Putamen - metabolism Risk Factors Sequence Analysis, DNA Transcription Factors - genetics
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