Adeline Vanderver

Summary

Publications

  1. ncbi request reprint Identification of a novel de novo p.Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe epilepsy
    Adeline Vanderver
    Department of Neurology, Children s National Medical Center, Washington, DC Electronic address
    Pediatr Neurol 50:112-4. 2014
  2. pmc More than hypomyelination in Pol-III disorder
    Adeline Vanderver
    Center for Genetic Medicine, Children s National Medical Center, Washington, District of Columbia 20010 2970, USA
    J Neuropathol Exp Neurol 72:67-75. 2013
  3. pmc Neurotransmitter abnormalities and response to supplementation in SPG11
    Adeline Vanderver
    Department of Neurology, Children s National Medical Center, Washington, DC 20010 2970, USA
    Mol Genet Metab 107:229-33. 2012
  4. pmc Relative incidence of inherited white matter disorders in childhood to acquired pediatric demyelinating disorders
    Adeline Vanderver
    Department of Neurology, Children s Research Institute, Center for Genetic Medicine, Children s National Medical Center, The George Washington University School of Medicine, Washington, DC 20010, USA
    Semin Pediatr Neurol 19:219-23. 2012
  5. doi request reprint Time series proteome profiling
    Catherine A Formolo
    Center for Genetic Medicine Research, Children s National Medical Center, Washington, DC, USA
    Methods Mol Biol 694:365-77. 2011
  6. pmc Elevation of proinflammatory cytokines in patients with Aicardi-Goutières syndrome
    Asako Takanohashi
    Center for Genetic Medicine Research, Department of Neurology, Children s National Medical Center, Washington, DC, USA
    Neurology 80:997-1002. 2013
  7. doi request reprint Time series proteome profiling to study endoplasmic reticulum stress response
    Michelle Mintz
    Children s National Medical Center, Center for Genetic Medicine, Washington, D C 20010, USA
    J Proteome Res 7:2435-44. 2008
  8. doi request reprint Genetic and clinical heterogeneity in eIF2B-related disorder
    Jelena Maletkovic
    Children s National Medical Center, Children s Research Institute, Center for Genetic Medicine, Washington, DC 20010, USA
    J Child Neurol 23:205-15. 2008
  9. ncbi request reprint Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations
    Adeline Vanderver
    Department of Neurology, Children s National Medical Center, Washington, District of Columbia
    Am J Med Genet A 164:627-33. 2014
  10. pmc Family history of autoimmune disease in patients with Aicardi-Goutières syndrome
    Johanna L Schmidt
    Department of Neurology, Children s National Medical Center, Washington, DC 20010, USA
    Clin Dev Immunol 2012:206730. 2012

Collaborators

Detail Information

Publications11

  1. ncbi request reprint Identification of a novel de novo p.Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe epilepsy
    Adeline Vanderver
    Department of Neurology, Children s National Medical Center, Washington, DC Electronic address
    Pediatr Neurol 50:112-4. 2014
    ....
  2. pmc More than hypomyelination in Pol-III disorder
    Adeline Vanderver
    Center for Genetic Medicine, Children s National Medical Center, Washington, District of Columbia 20010 2970, USA
    J Neuropathol Exp Neurol 72:67-75. 2013
    ..Thus, despite the uniformly hypomyelinating pattern seen on magnetic resonance imaging, neuropathologic examination reveals a complex heterogeneous leukodystrophy with prominent neuroaxonal and glial involvement in this disorder...
  3. pmc Neurotransmitter abnormalities and response to supplementation in SPG11
    Adeline Vanderver
    Department of Neurology, Children s National Medical Center, Washington, DC 20010 2970, USA
    Mol Genet Metab 107:229-33. 2012
    ..To report the detection of secondary neurotransmitter abnormalities in a group of SPG11 patients and describe treatment with l-dopa/carbidopa and sapropterin...
  4. pmc Relative incidence of inherited white matter disorders in childhood to acquired pediatric demyelinating disorders
    Adeline Vanderver
    Department of Neurology, Children s Research Institute, Center for Genetic Medicine, Children s National Medical Center, The George Washington University School of Medicine, Washington, DC 20010, USA
    Semin Pediatr Neurol 19:219-23. 2012
    ..Continued research of these understudied disorders should compare disease incidence and determinants to validate these findings in different populations...
  5. doi request reprint Time series proteome profiling
    Catherine A Formolo
    Center for Genetic Medicine Research, Children s National Medical Center, Washington, DC, USA
    Methods Mol Biol 694:365-77. 2011
    ..Data visualization is facilitated by GeneSpring software...
  6. pmc Elevation of proinflammatory cytokines in patients with Aicardi-Goutières syndrome
    Asako Takanohashi
    Center for Genetic Medicine Research, Department of Neurology, Children s National Medical Center, Washington, DC, USA
    Neurology 80:997-1002. 2013
    ..This study explores a large panel of cytokines in plasma and CSF of patients with Aicardi-Goutières syndrome (AGS) at different ages, in order to establish signatures of cytokines most predictive of AGS...
  7. doi request reprint Time series proteome profiling to study endoplasmic reticulum stress response
    Michelle Mintz
    Children s National Medical Center, Center for Genetic Medicine, Washington, D C 20010, USA
    J Proteome Res 7:2435-44. 2008
    ..This software also facilitated the generation of important parameters such as data normalization, calculation of statistical values to extract significant changes in protein expression, and the cross comparison of data sets...
  8. doi request reprint Genetic and clinical heterogeneity in eIF2B-related disorder
    Jelena Maletkovic
    Children s National Medical Center, Children s Research Institute, Center for Genetic Medicine, Washington, DC 20010, USA
    J Child Neurol 23:205-15. 2008
    ....
  9. ncbi request reprint Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations
    Adeline Vanderver
    Department of Neurology, Children s National Medical Center, Washington, District of Columbia
    Am J Med Genet A 164:627-33. 2014
    ..These neuroimaging findings, in association with macrocephaly and developmental delay, should prompt consideration of PTEN as a diagnostic possibility...
  10. pmc Family history of autoimmune disease in patients with Aicardi-Goutières syndrome
    Johanna L Schmidt
    Department of Neurology, Children s National Medical Center, Washington, DC 20010, USA
    Clin Dev Immunol 2012:206730. 2012
    ..Data was collected at Children's National Medical Center in Washington, DC, USA and at the International Aicardi-Goutières Syndrome Association Scientific Headquarters, C. Mondino National Institute of Neurology in Pavia, Italy...
  11. ncbi request reprint Decreased asialotransferrin in cerebrospinal fluid of patients with childhood-onset ataxia and central nervous system hypomyelination/vanishing white matter disease
    Adeline Vanderver
    Children s National Medical Center, Children s Research Institute, Center for Genetic Medicine, Washington, DC 20010, USA
    Clin Chem 51:2031-42. 2005
    ..A biomarker for the diagnosis of childhood-onset ataxia and central nervous system hypomyelination (CACH)/vanishing white matter disease (VWM) would have clinical utility and pathophysiologic significance...