DNAJC13 mutations in Parkinson disease. | Semantic Scholar Skip to search formSkip to main content> Semantic Scholar's Logo Search Sign InCreate Free Account You are currently offline. Some features of the site may not work correctly. DOI:10.1093/hmg/ddt570 Corpus ID: 17193339DNAJC13 mutations in Parkinson disease. @article{VilarioGell2014DNAJC13MI, title={DNAJC13 mutations in Parkinson disease.}, author={C. Vilari{\~n}o-G{\"u}ell and A. Rajput and A. Milnerwood and Brinda Shah and Chelsea Szu-Tu and J. Trinh and Irene Yu and M. Encarnacion and L. Munsie and L. Tapia and E. Gustavsson and Patrick Chou and I. Tatarnikov and D. Evans and Frederick T Pishotta and M. Volta and Dayne Beccano-Kelly and C. Thompson and M. K. Lin and H. Sherman and H. J. Han and B. Guenther and W. Wasserman and Virginie Bernard and C. Ross and Silke Appel-Cresswell and A. Stoessl and C. Robinson and D. Dickson and O. Ross and Z. Wszolek and J. Aasly and Ruey‐Meei Wu and F. Hentati and R. Gibson and P. McPherson and M. Girard and M. Rajput and M. Farrer}, journal={Human molecular genetics}, year={2014}, volume={23 7}, pages={ 1794-801 } } C. Vilariño-Güell, A. Rajput, +37 authors M. Farrer Published 2014 Biology, Medicine Human molecular genetics A Saskatchewan multi-incident family was clinically characterized with Parkinson disease (PD) and Lewy body pathology. PD segregates as an autosomal-dominant trait, which could not be ascribed to any known mutation. DNA from three affected members was subjected to exome sequencing. Genome alignment, variant annotation and comparative analyses were used to identify shared coding mutations. Sanger sequencing was performed within the extended family and ethnically matched controls. Subsequent… Expand View on PubMed europepmc.org Save to Library Create Alert Cite Launch Research Feed Share This Paper 220 CitationsHighly Influential Citations 7 Background Citations 66 Methods Citations 3 Results Citations 2 View All Figures, Tables, and Topics from this paper figure 1 table 1 figure 2 figure 3 figure 4 View All 5 Figures & Tables Parkinsonian Disorders Lewy Body Disease VPS35 gene APC gene Whole Exome Sequencing Secondary Parkinson Disease Inclusion Bodies Haplotypes DNAJC13 gene Annotation Numerous Biopolymer Sequencing 220 Citations Citation Type Citation Type All Types Cites Results Cites Methods Cites Background Has PDF Publication Type Author More Filters More Filters Filters Sort by Relevance Sort by Most Influenced Papers Sort by Citation Count Sort by Recency DNAJC13 mutation screening in patients with Parkinson's disease from South Italy. M. Gagliardi, G. Annesi, +6 authors A. 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