Citations 762

P2‐025: Genetic and epigenetic influences on brain gene expression in psp

Alzheimer's & Dementia | December 15, 2015 | Volume: 11 | Issue: 7S_Part_10 | Pages: No page available

10.1016/j.jalz.2015.06.561

O2‐05‐04: The involvement of the 5lipoxygenase pathway in tauopathy

Alzheimer's & Dementia | December 15, 2015 | Volume: 11 | Issue: 7S_Part_4 | Pages: No page available

10.1016/j.jalz.2015.07.157

F2‐03‐04: Genetic risk factors for posterior cortical atrophy

Alzheimer's & Dementia | December 15, 2015 | Volume: 11 | Issue: 7S_Part_3 | Pages: No page available

10.1016/j.jalz.2015.07.119

F3‐02‐01: The relationship of primary age‐related tauopathy (PART) to snap: Controversy or parallel?

Alzheimer's & Dementia | December 15, 2015 | Volume: 11 | Issue: 7S_Part_4 | Pages: No page available

10.1016/j.jalz.2015.07.226

P2‐015: Exploring alternative splicing and gene expression of load candidate genes in blood

Alzheimer's & Dementia | December 15, 2015 | Volume: 11 | Issue: 7S_Part_10 | Pages: No page available

10.1016/j.jalz.2015.06.551

Globular Glial Tauopathy Presenting as Semantic Variant Primary Progressive Aphasia

JAMA Neurology | November 16, 2015 | Volume: 73 | Issue: 1 | Pages: 123

10.1001/jamaneurol.2015.2711 | PMID 26571405

Mitochondrial targeting sequence variants of the CHCHD2 gene are a risk for Lewy body disorders

Neurology | November 11, 2015 | Volume: 85 | Issue: 23 | Pages: 2016-2025

10.1212/wnl.0000000000002170 | PMID 26561290

Role for the microtubule-associated protein tau variant p.A152T in risk of α-synucleinopathies

Neurology | September 3, 2015 | Volume: 85 | Issue: 19 | Pages: 1680-1686

10.1212/wnl.0000000000001946 | PMID 26333800

Late-onset Alzheimer disease risk variants mark brain regulatory loci

Neurology Genetics | August 27, 2015 | Volume: 1 | Issue: 2 | Pages: No page available

10.1212/nxg.0000000000000012 | PMID 27066552

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

European Journal of Neurology | August 17, 2015 | Volume: 22 | Issue: 9 | Pages: 1323-1325

10.1111/ene.12770 | PMID 26278106

BackgroundRecently, 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.MethodsIn the present study the mutation containing exon of the DNAJC13 gene has been sequenced in a Caucasian series consisting of 1938 patients with clinical PD and 838 with pathologically diagnosed Lewy body disease (LBD).ResultsOur sequence analysis did not identify any coding variants in exon 24 of DNAJC13. Two previously described variants in intron 23 (rs200204728 and rs2369796) were observed.ConclusionOur results indicate that the region surrounding the DNAJC13 p.Asn855Ser substitution is highly conserved and mutations in this exon are not a common cause of PD or LBD among Caucasian populations.