Jennifer M Kwon
Affiliation: University of Rochester
- Novel CLN3 mutation predicted to cause complete loss of protein function does not modify the classical JNCL phenotypeJennifer 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...
- 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...
- Clinical seizures in neonatal hypoxic-ischemic encephalopathy have no independent impact on neurodevelopmental outcome: secondary analyses of data from the neonatal research network hypothermia trialJennifer 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...
- 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 advocatesElisabeth 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...
- Females experience a more severe disease course in Batten diseaseJennifer 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...
- 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...
- Classification and natural history of the neuronal ceroid lipofuscinosesJonathan 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. ..
- Urine phenobarbital drug screening: potential use for compliance assessment in neonatesRonnie 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...
- Prophylactic phenobarbital administration after resolution of neonatal seizures: survey of current practiceRonnie 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...
- Newborn screening for Krabbe disease: the New York State modelPatricia 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....
- Functional variant in a bitter-taste receptor (hTAS2R16) influences risk of alcohol dependenceAnthony 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...