Abstract:
:In recent years, CHCHD2 and CHCHD10 mutations were reported to be associated with a broad spectrum of neurodegenerative diseases, including Parkinson's disease (PD), although with conflicting results in different populations. The present study aimed to evaluate CHCHD2 and CHCHD10 coding variants in Italian patients with PD. All the coding regions and flanking intronic splice sites of CHCHD2 and CHCHD10 were sequenced. None of our 119 PD cases carried CHCHD2 mutations, whereas 1 sporadic PD patient showed the Pro34Ser substitution in CHCHD10. Our data suggest that CHCHD2 and CHCDH10 mutations are not a relevant cause of PD in Italian population.
journal_name
Neurobiol Agingjournal_title
Neurobiology of agingauthors
Rubino E,Brusa L,Zhang M,Boschi S,Govone F,Vacca A,Gai A,Pinessi L,Lopiano L,Rogaeva E,Rainero Idoi
10.1016/j.neurobiolaging.2016.12.027subject
Has Abstractpub_date
2017-05-01 00:00:00pages
193.e7-193.e8eissn
0197-4580issn
1558-1497pii
S0197-4580(16)30340-2journal_volume
53pub_type
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journal_title:Neurobiology of aging
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journal_title:Neurobiology of aging
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journal_title:Neurobiology of aging
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journal_title:Neurobiology of aging
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journal_title:Neurobiology of aging
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journal_title:Neurobiology of aging
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journal_title:Neurobiology of aging
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journal_title:Neurobiology of aging
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journal_title:Neurobiology of aging
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journal_title:Neurobiology of aging
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doi:10.1016/j.neurobiolaging.2013.05.011
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journal_title:Neurobiology of aging
pub_type: 杂志文章
doi:10.1016/0197-4580(93)90106-l
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journal_title:Neurobiology of aging
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doi:10.1016/j.neurobiolaging.2015.03.004
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journal_title:Neurobiology of aging
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journal_title:Neurobiology of aging
pub_type: 杂志文章
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journal_title:Neurobiology of aging
pub_type: 杂志文章
doi:10.1016/j.neurobiolaging.2006.01.007
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journal_title:Neurobiology of aging
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journal_title:Neurobiology of aging
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journal_title:Neurobiology of aging
pub_type: 评论,杂志文章,评审
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journal_title:Neurobiology of aging
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journal_title:Neurobiology of aging
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journal_title:Neurobiology of aging
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journal_title:Neurobiology of aging
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journal_title:Neurobiology of aging
pub_type: 杂志文章
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