A R Paciorkowski
Affiliation: University of Washington
- Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic functionAlex R Paciorkowski
Departments of Neurology and Pediatrics, Washington University, St Louis, MO, USA
Eur J Hum Genet 19:1238-45. 2011..This study demonstrates a novel approach to the study of gene content in subjects with ISS and copy number variation, and contributes further evidence to support specific pathways of pathogenesis...
- Genetic and biologic classification of infantile spasmsAlex R Paciorkowski
Department of Neurology, University of Washington, Seattle, Washington, USA
Pediatr Neurol 45:355-67. 2011..These genetic and biologic classifications are flexible, and they should encourage much needed progress in syndrome recognition, clinical genetic testing, and the development of new therapies targeting specific pathways of pathogenesis...
- Massive expansion of SCA2 with autonomic dysfunction, retinitis pigmentosa, and infantile spasmsA R Paciorkowski
Department of Neurology, Washington University, St Louis, MO, USA
Neurology 77:1055-60. 2011..To provide clinical data on a cohort of 6 patients with massive expansion (>200 CAG repeats) of spinocerebellar ataxia type 2 (SCA2) and investigate possible pathways of pathogenesis using bioinformatics analysis of ATXN2 networks...