Alexander R Paciorkowski

Summary

Affiliation: University of Rochester
Country: USA

Publications

  1. pmc MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways
    Alex R Paciorkowski
    Department of Neurology, Pediatrics, and Biomedical Genetics, Center for Neural Development and Disease, University of Rochester Medical Center, 601 Elmwood Ave, Rochester, NY 14642, USA
    Neurogenetics 14:99-111. 2013
  2. pmc Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption
    Alex R Paciorkowski
    Departments of Neurology, Pediatrics, and Biomedical Genetics, Center for Neural Development and Disease, University of Rochester Medical Center, Rochester, NY 14642, USA
    Am J Med Genet A 161:1523-30. 2013
  3. pmc Reliability and validity of the Wolfram Unified Rating Scale (WURS)
    Chau Nguyen
    Program in Occupational Therapy, Washington University School of Medicine, St, Louis, Missouri 63110, USA
    Orphanet J Rare Dis 7:89. 2012

Collaborators

Detail Information

Publications3

  1. pmc MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways
    Alex R Paciorkowski
    Department of Neurology, Pediatrics, and Biomedical Genetics, Center for Neural Development and Disease, University of Rochester Medical Center, 601 Elmwood Ave, Rochester, NY 14642, USA
    Neurogenetics 14:99-111. 2013
    ..Given interactions with several key neurodevelopmental genes such as ARX, FMR1, MECP2, and TBR1, it appears that MEF2C plays a role in several developmental stages of both dorsal and ventral neuronal cell types...
  2. pmc Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption
    Alex R Paciorkowski
    Departments of Neurology, Pediatrics, and Biomedical Genetics, Center for Neural Development and Disease, University of Rochester Medical Center, Rochester, NY 14642, USA
    Am J Med Genet A 161:1523-30. 2013
    ..Sequencing of other candidate genes in this region in patients with deletion 16p13.11 and more severe neurophenotypes may be warranted...
  3. pmc Reliability and validity of the Wolfram Unified Rating Scale (WURS)
    Chau Nguyen
    Program in Occupational Therapy, Washington University School of Medicine, St, Louis, Missouri 63110, USA
    Orphanet J Rare Dis 7:89. 2012
    ..The aim of this study is to develop and test the reliability and validity of the Wolfram Unified Rating Scale (WURS)...