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Author Details

Olena Korvatska
University of Washington
2009
16
12
PMIDPaper TitleJournal TitlePublished Year
37115208Defects in lysosomal function and lipid metabolism in human microglia harboring a TREM2 loss of function mutation.Acta Neuropathol2023
37598468NOTCH3 C201R variant causes cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) that can be confused with early-onset Alzheimer's disease.J Neurol Sci2023
35779466Reduced gene dosage is a common mechanism of neuropathologies caused by ATP6AP2 splicing mutations.Parkinsonism Relat Disord2022
34061398Novel TREM2 splicing isoform that lacks the V-set immunoglobulin domain is abundant in the human brain.J Leukoc Biol2021
33101276Triggering Receptor Expressed on Myeloid Cell 2 R47H Exacerbates Immune Response in Alzheimer's Disease Brain.Front Immunol2020
26076170R47H Variant of TREM2 Associated With Alzheimer Disease in a Large Late-Onset Family: Clinical, Genetic, and Neuropathological Study.JAMA Neurol2015
26537056ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations.Neurology2015
23553203Support for the N-methyl-D-aspartate receptor hypofunction hypothesis of schizophrenia from exome sequencing in multiplex families.JAMA Psychiatry2013
23595882Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS).Hum Mol Genet2013
21478475ABCB1 genotype and CSF beta-amyloid in Alzheimer disease.J Geriatr Psychiatry Neurol2011
21438139Mutations in the TSGA14 gene in families with autism spectrum disorders.Am J Med Genet B Neuropsychiatr Genet2011
19401682High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility.Mol Psychiatry2010
20531469Functional impact of global rare copy number variation in autism spectrum disorders.Nature2010
20663923A genome-wide scan for common alleles affecting risk for autism.Hum Mol Genet2010
19404256Common genetic variants on 5p14.1 associate with autism spectrum disorders.Nature2009
19404257Autism genome-wide copy number variation reveals ubiquitin and neuronal genes.Nature2009
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NIHR Biomedical Research Centre, University of Oxford
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