http://purl.uniprot.org/citations/19506225 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/19506225 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/19506225 | http://www.w3.org/2000/01/rdf-schema#comment | "ObjectiveRecently, mutations in DCTN1 were found to cause Perry syndrome, a parkinsonian disorder with TDP-43-positive pathology. Previously, mutations in DCTN1 were identified in a family with lower motor neuron disease, in amyotrophic lateral sclerosis (ALS), and in a family with ALS/frontotemporal dementia (FTD), suggesting a central role for DCTN1 in neurodegeneration.MethodsIn this study we sequenced all DCTN1 exons and exon-intron boundaries in 286 samples diagnosed with Parkinson disease (PD), frontotemporal lobar degeneration (FTLD), or ALS.ResultsThis analysis revealed 36 novel variants (9 missense, 5 silent, and 22 noncoding). Segregation analysis in families and association studies in PD, FTLD, and ALS case-control series did not identify any variants segregating with disease or associated with increased disease risk.ConclusionsThis study suggests that pathogenic mutations in DCTN1 are rare and do not play a common role in the development of Parkinson disease, frontotemporal lobar degeneration, or amyotrophic lateral sclerosis."xsd:string |
http://purl.uniprot.org/citations/19506225 | http://purl.org/dc/terms/identifier | "doi:10.1212/wnl.0b013e3181a92c4c"xsd:string |
http://purl.uniprot.org/citations/19506225 | http://purl.org/dc/terms/identifier | "doi:10.1212/wnl.0b013e3181a92c4c"xsd:string |
http://purl.uniprot.org/citations/19506225 | http://purl.uniprot.org/core/author | "Farrer M.J."xsd:string |
http://purl.uniprot.org/citations/19506225 | http://purl.uniprot.org/core/author | "Farrer M.J."xsd:string |
http://purl.uniprot.org/citations/19506225 | http://purl.uniprot.org/core/author | "Miller B."xsd:string |
http://purl.uniprot.org/citations/19506225 | http://purl.uniprot.org/core/author | "Miller B."xsd:string |
http://purl.uniprot.org/citations/19506225 | http://purl.uniprot.org/core/author | "Boeve B.F."xsd:string |
http://purl.uniprot.org/citations/19506225 | http://purl.uniprot.org/core/author | "Boeve B.F."xsd:string |
http://purl.uniprot.org/citations/19506225 | http://purl.uniprot.org/core/author | "Dickson D.W."xsd:string |
http://purl.uniprot.org/citations/19506225 | http://purl.uniprot.org/core/author | "Dickson D.W."xsd:string |
http://purl.uniprot.org/citations/19506225 | http://purl.uniprot.org/core/author | "Rademakers R."xsd:string |
http://purl.uniprot.org/citations/19506225 | http://purl.uniprot.org/core/author | "Rademakers R."xsd:string |
http://purl.uniprot.org/citations/19506225 | http://purl.uniprot.org/core/author | "Ross O.A."xsd:string |
http://purl.uniprot.org/citations/19506225 | http://purl.uniprot.org/core/author | "Ross O.A."xsd:string |
http://purl.uniprot.org/citations/19506225 | http://purl.uniprot.org/core/author | "Wider C."xsd:string |
http://purl.uniprot.org/citations/19506225 | http://purl.uniprot.org/core/author | "Wider C."xsd:string |
http://purl.uniprot.org/citations/19506225 | http://purl.uniprot.org/core/author | "Wszolek Z.K."xsd:string |
http://purl.uniprot.org/citations/19506225 | http://purl.uniprot.org/core/author | "Wszolek Z.K."xsd:string |
http://purl.uniprot.org/citations/19506225 | http://purl.uniprot.org/core/author | "Chartier-Harlin M.-C."xsd:string |
http://purl.uniprot.org/citations/19506225 | http://purl.uniprot.org/core/author | "Chartier-Harlin M.-C."xsd:string |
http://purl.uniprot.org/citations/19506225 | http://purl.uniprot.org/core/author | "Hentati F."xsd:string |
http://purl.uniprot.org/citations/19506225 | http://purl.uniprot.org/core/author | "Hentati F."xsd:string |