Jennifer M Kwon

Summary

Affiliation: University of Rochester
Country: USA

Publications

  1. ncbi Novel CLN3 mutation predicted to cause complete loss of protein function does not modify the classical JNCL phenotype
    Jennifer M Kwon
    Department of Neurology, 601 Elmwood Avenue, Box 631, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA
    Neurosci Lett 387:111-4. 2005
  2. ncbi Clinical seizures in neonatal hypoxic-ischemic encephalopathy have no independent impact on neurodevelopmental outcome: secondary analyses of data from the neonatal research network hypothermia trial
    Jennifer M Kwon
    Departments of Neurology and Pediatrics, University of Rochester, Rochester, New York 14642, USA
    J Child Neurol 26:322-8. 2011
  3. ncbi Quantifying physical decline in juvenile neuronal ceroid lipofuscinosis (Batten disease)
    J M Kwon
    University of Rochester, Rochester, NY, USA
    Neurology 77:1801-7. 2011
  4. ncbi Females experience a more severe disease course in Batten disease
    Jennifer Cialone
    University of Rochester, Rochester, NY, USA
    J Inherit Metab Dis 35:549-55. 2012
  5. ncbi Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis (Batten disease)
    Heather R Adams
    Division of Child Neurology, University of Rochester Medical Center, 601 Elmwood Avenue, Rochester, NY 14642, USA
    Dev Med Child Neurol 52:637-43. 2010
  6. ncbi Urine phenobarbital drug screening: potential use for compliance assessment in neonates
    Ronnie Guillet
    Department of Pediatrics Neonatology, University of Rochester Medical Center, Rochester, NY 14642, USA
    J Child Neurol 27:200-3. 2012
  7. ncbi Prophylactic phenobarbital administration after resolution of neonatal seizures: survey of current practice
    Ronnie Guillet
    Department of Pediatrics, Division of Neonatology, Golisano Children s Hospital at Strong, University of Rochester Medical Center, Rochester, NY 14642, USA
    Pediatrics 122:731-5. 2008
  8. ncbi Newborn screening for Krabbe disease: the New York State model
    Patricia K Duffner
    Hunter James Kelly Research Institute, Department of Neurology, University at Buffalo, State University of New York, Buffalo, New York, USA
    Pediatr Neurol 40:245-52; discussion 253-5. 2009
  9. ncbi Functional variant in a bitter-taste receptor (hTAS2R16) influences risk of alcohol dependence
    Anthony L Hinrichs
    Washington University School of Medicine, St Louis, MO 63110, USA
    Am J Hum Genet 78:103-11. 2006

Collaborators

Detail Information

Publications9

  1. ncbi Novel CLN3 mutation predicted to cause complete loss of protein function does not modify the classical JNCL phenotype
    Jennifer M Kwon
    Department of Neurology, 601 Elmwood Avenue, Box 631, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA
    Neurosci Lett 387:111-4. 2005
    ..She had classical disease progression, suggesting that this mutation in CLN3 mimics the more prevalent 1 kb deletion and that progression of JNCL is predominantly the result of loss of CLN3 function...
  2. ncbi Clinical seizures in neonatal hypoxic-ischemic encephalopathy have no independent impact on neurodevelopmental outcome: secondary analyses of data from the neonatal research network hypothermia trial
    Jennifer M Kwon
    Departments of Neurology and Pediatrics, University of Rochester, Rochester, New York 14642, USA
    J Child Neurol 26:322-8. 2011
    ..Among infants diagnosed with hypoxic-ischemic encephalopathy, the mortality and morbidity often attributed to neonatal seizures can be better explained by the underlying severity of encephalopathy...
  3. ncbi Quantifying physical decline in juvenile neuronal ceroid lipofuscinosis (Batten disease)
    J M Kwon
    University of Rochester, Rochester, NY, USA
    Neurology 77:1801-7. 2011
    ..Now that therapies are being proposed to prevent, slow, or reverse the course of JNCL, the UBDRS will play an important role in quantitatively assessing clinical outcomes in research trials...
  4. ncbi Females experience a more severe disease course in Batten disease
    Jennifer Cialone
    University of Rochester, Rochester, NY, USA
    J Inherit Metab Dis 35:549-55. 2012
    ..Future research in sex differences in JNCL may help to further understand the biological mechanisms underpinning the disease course and may point to targeted therapies...
  5. ncbi Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis (Batten disease)
    Heather R Adams
    Division of Child Neurology, University of Rochester Medical Center, 601 Elmwood Avenue, Rochester, NY 14642, USA
    Dev Med Child Neurol 52:637-43. 2010
    ..The secondary aim was to cross-validate the Child Behavior Checklist (CBCL) and the Unified Batten Disease Rating Scale (UBDRS), a disease-specific JNCL rating scale...
  6. ncbi Urine phenobarbital drug screening: potential use for compliance assessment in neonates
    Ronnie Guillet
    Department of Pediatrics Neonatology, University of Rochester Medical Center, Rochester, NY 14642, USA
    J Child Neurol 27:200-3. 2012
    ..6 ± 12.5% of the serum level. Frozen samples were 98.3 ± 8.0% of the fresh samples. Urine phenobarbital concentrations, either fresh or frozen, can be used in neonates as a noninvasive estimate of drug levels...
  7. ncbi Prophylactic phenobarbital administration after resolution of neonatal seizures: survey of current practice
    Ronnie Guillet
    Department of Pediatrics, Division of Neonatology, Golisano Children s Hospital at Strong, University of Rochester Medical Center, Rochester, NY 14642, USA
    Pediatrics 122:731-5. 2008
    ..We conducted a national survey to determine the degree of variation in this practice...
  8. ncbi Newborn screening for Krabbe disease: the New York State model
    Patricia K Duffner
    Hunter James Kelly Research Institute, Department of Neurology, University at Buffalo, State University of New York, Buffalo, New York, USA
    Pediatr Neurol 40:245-52; discussion 253-5. 2009
    ....
  9. ncbi Functional variant in a bitter-taste receptor (hTAS2R16) influences risk of alcohol dependence
    Anthony L Hinrichs
    Washington University School of Medicine, St Louis, MO 63110, USA
    Am J Hum Genet 78:103-11. 2006
    ..6%), whereas 45% of African Americans carry the allele (MAF 26%), which makes it a much more significant risk factor in the African American population...