A R Paciorkowski

Summary

Affiliation: University of Washington
Country: USA

Publications

  1. pmc Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function
    Alex R Paciorkowski
    Departments of Neurology and Pediatrics, Washington University, St Louis, MO, USA
    Eur J Hum Genet 19:1238-45. 2011
  2. pmc Genetic and biologic classification of infantile spasms
    Alex R Paciorkowski
    Department of Neurology, University of Washington, Seattle, Washington, USA
    Pediatr Neurol 45:355-67. 2011
  3. pmc Massive expansion of SCA2 with autonomic dysfunction, retinitis pigmentosa, and infantile spasms
    A R Paciorkowski
    Department of Neurology, Washington University, St Louis, MO, USA
    Neurology 77:1055-60. 2011

Detail Information

Publications3

  1. pmc Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function
    Alex 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...
  2. pmc Genetic and biologic classification of infantile spasms
    Alex 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...
  3. pmc Massive expansion of SCA2 with autonomic dysfunction, retinitis pigmentosa, and infantile spasms
    A 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...