Adeline Vanderver

Summary

Publications

  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  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 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
  8. 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
  9. 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

  • Raphael Schiffmann
  • Yetrib Hathout
  • Elisa Fazzi
  • David R Lynch
  • Yanick J Crow
  • Simona Orcesi
  • Michelle Mintz
  • Johanna L Schmidt
  • Asako Takanohashi
  • Heather Gordish-Dressman
  • Catherine A Formolo
  • Kanneboyina Nagaraju
  • Kristy J Brown
  • Eric P Hoffman
  • Jelena Maletkovic
  • Gillian I Rice
  • Taco W Kuijpers
  • Miriam Bloom
  • Morgan Prust
  • Pierre Lebon
  • Jichuan Wang
  • Ivana Olivieri
  • Jodie M Vento
  • Brian Halligan
  • Hernan Amartino
  • Lloyd Jensen
  • Bhim S Singhal
  • Deborah Renaud
  • Zuyi Wang
  • - Yuanjian Feng
  • Alicia Chan
  • Joseph Lin
  • Christine Kaneski
  • J Rafael Gorospe
  • Hiroki Morizono
  • Cary Harding
  • Gulay Alper
  • Erynn S Gordon
  • Javad Nazarian
  • Nadja Kadom
  • Candida M Brown
  • - Zuyi Wang
  • Thomas Hartka
  • Nesrin Senbil
  • Michael Geraghty

Detail Information

Publications9

  1. 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...
  2. 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...
  3. 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...
  4. 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...
  5. 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...
  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 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
    ....
  8. 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...
  9. 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...