DNAJC13 p.Asn855Ser mutation screening in Parkinson’s disease and pathologically confirmed Lewy body disease patients

Recently, a novel mutation in exon 24 of DNAJC13 gene (p.Asn855Ser, rs387907571) has been reported to cause autosomal dominant Parkinson’s disease (PD) in a multi-incident Mennonite family. In the present study we have sequenced the mutation containing exon of the DNAJC13 gene in a Caucasian series...

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Publicat a:Eur J Neurol
Autors principals: Lorenzo-Betancor, Oswaldo, Ogaki, Kotaro, Soto-Ortolaza, Alexandra I., Labbé, Catherine, Walton, Ronald L., Strongosky, Audrey J., van Gerpen, Jay A., Uitti, Ryan J., McLean, Pamela, Springer, Wolfdieter, Siuda, Joanna, Opala, Grzegorz, Krygowska-Wajs, Anna, Barcikowska, Maria, Czyzewski, Krzysztof, McCarthy, Allan, Lynch, Timothy, Puschmann, Andreas, Rektorová, Irena, Sanotsky, Yanosh, Vilarino-Guell, Carles, Farrer, Matthew J., Ferman, Tanis J., Boeve, Bradley F., Petersen, Ronald C., Parisi, Joseph E., Graff-Radford, Neill R., Dickson, Dennis W., Wszolek, Zbigniew K., Ross, Owen A.
Format: Artigo
Idioma:Inglês
Publicat: 2015
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4542017/
https://ncbi.nlm.nih.gov/pubmed/26278106
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/ene.12770
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