- Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS)Olena Korvatska
Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA 98195, USA
Hum Mol Genet 22:3259-68. 2013..Mutations in XPDS and MRXSH alter binding sites for different splicing factors, which may explain the marked differences in age of onset and manifestations. ..
- Mutations in the TSGA14 gene in families with autism spectrum disordersO Korvatska
Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, 98195, USA
Am J Med Genet B Neuropsychiatr Genet 156:303-11. 2011..022). This is the first report of a possible link of a gene with a centrosomal function with familial autism...
- ABCB1 genotype and CSF beta-amyloid in Alzheimer diseaseR Kohen
Department of Psychiatry and Behavioral Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA
J Geriatr Psychiatry Neurol 24:63-6. 2011..In this study, we investigated a possible association between 2 common ABCB1 polymorphisms, G2677T/A (Ala893Ser/Thr) and C3435T, AD, and cerebrospinal fluid (CSF) levels of Aβ. No strong evidence for association was found...