Genetic analysis ofCHCHD2gene in Chinese Parkinson's disease

2016 ◽  
Vol 171 (8) ◽  
pp. 1148-1152 ◽  
Author(s):  
Nan-Nan Li ◽  
Ling Wang ◽  
Eng-King Tan ◽  
Lan Cheng ◽  
Xiao-Yi Sun ◽  
...  
2009 ◽  
Vol 116 (7) ◽  
pp. 853-859 ◽  
Author(s):  
Claudia Funke ◽  
Juergen Tomiuk ◽  
Olaf Riess ◽  
Daniela Berg ◽  
Anne S. Soehn

2018 ◽  
Vol 72 ◽  
pp. 187.e5-187.e10 ◽  
Author(s):  
Jin-Ru Zhang ◽  
Hong Jin ◽  
Kai Li ◽  
Cheng-Jie Mao ◽  
Ya-Ping Yang ◽  
...  

2019 ◽  
Vol 84 ◽  
pp. 242.e13-242.e16 ◽  
Author(s):  
Li Shu ◽  
Lixia Qin ◽  
Shishi Min ◽  
Hongxu Pan ◽  
Junfei Zhong ◽  
...  

2017 ◽  
Vol 53 ◽  
pp. 193.e7-193.e8 ◽  
Author(s):  
Elisa Rubino ◽  
Livia Brusa ◽  
Ming Zhang ◽  
Silvia Boschi ◽  
Flora Govone ◽  
...  

2013 ◽  
Vol 19 (10) ◽  
pp. 918-920 ◽  
Author(s):  
Hui Liang ◽  
Zhi Song ◽  
Jin Lei ◽  
Junxiang Tang ◽  
Hongbo Xu ◽  
...  

2017 ◽  
Vol 56 ◽  
pp. 211.e1-211.e7 ◽  
Author(s):  
Ignacio F. Mata ◽  
Catherine O. Johnson ◽  
James B. Leverenz ◽  
Daniel Weintraub ◽  
John Q. Trojanowski ◽  
...  

2012 ◽  
Vol 526 (1) ◽  
pp. 63-67 ◽  
Author(s):  
Shuchao Pang ◽  
Dongfeng Chen ◽  
Aimei Zhang ◽  
Xianyun Qin ◽  
Bo Yan

2015 ◽  
Vol 2015 ◽  
pp. 1-6 ◽  
Author(s):  
Rosangela Ferese ◽  
Nicola Modugno ◽  
Rosa Campopiano ◽  
Marco Santilli ◽  
Stefania Zampatti ◽  
...  

Background. Parkinson’s disease (PD) is mostly characterized by alpha-synuclein (SNCA) aggregation and loss of nigrostriatal dopamine-containing neurons. In this study a novel SNCA multiplication is described in two siblings affected by severe parkinsonism featuring early onset dyskinesia, psychiatric symptoms, and cognitive deterioration. Methods. SNCA dosage was performed using High-Density Comparative Genomic Hybridization Array (CGH-Array), Multiple Ligation Dependent Probe Amplification (MLPA), and Quantitative PCR (qPCR). Genetic analysis was associated with clinical evaluation. Results. Genetic analysis of siblings showed for the first time a 351 Kb triplication containing SNCA gene along with 6 exons of MMRN1 gene in 4q22.1 and a duplication of 1,29 Mb of a genomic region flanking the triplication. Conclusions. The identification of this family indicates a novel mechanism of SNCA gene multiplication, which confirms the genomic instability in this region and provides data on the genotype-phenotype correlation in PD patients.


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