Genetic analysis of neurodegenerative diseases in a pathology cohort.
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ABSTRACT:
SUBMITTER: Blauwendraat C
PROVIDER: S-EPMC6391207 | biostudies-literature | 2019 Apr
REPOSITORIES: biostudies-literature
Publications
Genetic analysis of neurodegenerative diseases in a pathology cohort.
Blauwendraat Cornelis C Pletnikova Olga O Geiger Joshua T JT Murphy Natalie A NA Abramzon Yevgeniya Y Rudow Gay G Mamais Adamantios A Sabir Marya S MS Crain Barbara B Ahmed Sarah S Rosenthal Liana S LS Bakker Catherine C CC Faghri Faraz F Chia Ruth R Ding Jinhui J Dawson Ted M TM Pantelyat Alexander A Albert Marilyn S MS Nalls Mike A MA Resnick Susan M SM Ferrucci Luigi L Cookson Mark R MR Hillis Argye E AE Troncoso Juan C JC Scholz Sonja W SW
Neurobiology of aging 20181117
Molecular genetic research provides unprecedented opportunities to examine genotype-phenotype correlations underlying complex syndromes. To investigate pathogenic mutations and genotype-phenotype relationships in diverse neurodegenerative conditions, we performed a rare variant analysis of damaging mutations in autopsy-confirmed neurodegenerative cases from the Johns Hopkins Brain Resource Center (n = 1243 patients). We used NeuroChip genotyping and C9orf72 hexanucleotide repeat analysis to rapi ...[more]
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