Jennifer M Kwon

Summary

Affiliation: University of Rochester
Country: USA

Publications

  1. ncbi request reprint 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. pmc Quantifying physical decline in juvenile neuronal ceroid lipofuscinosis (Batten disease)
    J M Kwon
    University of Rochester, Rochester, NY, USA
    Neurology 77:1801-7. 2011
  3. pmc 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
  4. pmc Methodology of clinical research in rare diseases: development of a research program in juvenile neuronal ceroid lipofuscinosis (JNCL) via creation of a patient registry and collaboration with patient advocates
    Elisabeth A de Blieck
    University of Rochester, Rochester, NY 14642, USA
    Contemp Clin Trials 35:48-54. 2013
  5. pmc 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
  6. pmc 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
  7. doi request reprint Classification and natural history of the neuronal ceroid lipofuscinoses
    Jonathan W Mink
    1Department of Neurology, University of Rochester School of Medicine and Dentistry, Rochester, NY, USA
    J Child Neurol 28:1101-5. 2013
  8. doi request reprint 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
  9. doi request reprint 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
  10. doi request reprint 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

Collaborators

Detail Information

Publications11

  1. ncbi request reprint 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. pmc 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...
  3. pmc 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...
  4. pmc Methodology of clinical research in rare diseases: development of a research program in juvenile neuronal ceroid lipofuscinosis (JNCL) via creation of a patient registry and collaboration with patient advocates
    Elisabeth A de Blieck
    University of Rochester, Rochester, NY 14642, USA
    Contemp Clin Trials 35:48-54. 2013
    ..True for many rare diseases, there are no treatments that impact the course of JNCL. The University of Rochester Batten Center's (URBC) mission is to find treatments to slow, halt, or prevent JNCL...
  5. pmc 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...
  6. pmc 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...
  7. doi request reprint Classification and natural history of the neuronal ceroid lipofuscinoses
    Jonathan W Mink
    1Department of Neurology, University of Rochester School of Medicine and Dentistry, Rochester, NY, USA
    J Child Neurol 28:1101-5. 2013
    ..Better knowledge of the natural histories of these disorders is necessary to shed light on the underlying pathobiology and to develop new therapeutics. ..
  8. doi request reprint 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...
  9. doi request reprint 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...
  10. doi request reprint 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
    ....
  11. pmc 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...