Adeline Vanderver

Summary

Publications

  1. doi 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 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. 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
  5. pmc 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. pmc 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 DARS-associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder
    Nicole I Wolf
    From the Department of Child Neurology N I W, T E M A, M S v d K, VU University Medical Center, Amsterdam the Neuroscience Campus Amsterdam N I W, T E M A, M S v d K, the Netherlands the NIH Undiagnosed Diseases Program C T, National Institutes of Health, Bethesda, MD the NYU Multiple Sclerosis Center I K, Department of Neurology, NYU School of Medicine, New York the Department of Radiology K A L, Hospital Kuala Lumpur, Malaysia the Department of Neurology R L, Royal Children s Hospital Murdoch Children s Research Institute R L the Department of Pediatrics R L, University of Melbourne, Australia the Department of Neurology A P, A V, Children s National Medical Center, Washington, DC the Institute for Molecular Bioscience C S, R J T, University of Queensland, St Lucia, Queensland, Australia the Departments of Integrative Systems Biology and Pediatrics R J T, George Washington University School of Medicine, Washington, DC Illumina Inc R J T, San Diego, CA and the Department of Functional Genomics M S v d K, Center for Neurogenomics and Cognitive Research, VU University, Amsterdam, The Netherlands
    Neurology 84:226-30. 2015
  9. 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
  10. doi request reprint Maternal uniparental isodisomy causing autosomal recessive GM1 gangliosidosis: a clinical report
    Jessica E King
    Department of Neurology, Children s National Medical Center, 111 Michigan Ave NW, Washington, DC, 20010, USA
    J Genet Couns 23:734-41. 2014

Collaborators

  • Raphael Schiffmann
  • Marjo S van der Knaap
  • Davide Tonduti
  • Yetrib Hathout
  • Simona Orcesi
  • Ilya Kister
  • Mercedes Pineda
  • Johanna Schmidt
  • David Miller
  • Elisa Fazzi
  • David R Lynch
  • Yanick J Crow
  • Nicole I Wolf
  • Michelle Mintz
  • Amy Pizzino
  • Asako Takanohashi
  • Jessica E King
  • Miriam Bloom
  • Catherine A Formolo
  • Kanneboyina Nagaraju
  • Kristy J Brown
  • Jelena Maletkovic
  • Eric P Hoffman
  • Richard Leventer
  • Camilo Toro
  • Kartikasalwah Abd Latif
  • Truus E M Abbink
  • Cas Simons
  • Ryan J Taft
  • Amy Dexter
  • Johan M Kros
  • Sakkubai Naidu
  • Inder Gadi
  • Genevieve Bernard
  • Erik Sistermans
  • Ton de Grauw
  • Val Zvereff
  • Pedro Soares Pinto
  • Sandya Tirupathi
  • Rosalina M L van Spaendonk
  • Kether Guerrero
  • Michelle Demos
  • Meaghan Martin
  • Marianna Bugiani
  • Sebastien Fribourg
  • Daniela Pohl
  • Petter Strømme
  • Coriene Catsman-Berrevoets
  • Bernard Brais
  • Morgan Prust
  • Taco W Kuijpers
  • Jichuan Wang
  • Gillian I Rice
  • Pierre Lebon
  • Heather Gordish-Dressman
  • Brian Halligan
  • Nesrin Senbil
  • Javad Nazarian
  • Lloyd Jensen
  • Nadja Kadom
  • - Yuanjian Feng
  • Erynn S Gordon
  • Gulay Alper
  • Hernan Amartino
  • Thomas Hartka
  • Alicia Chan
  • Cary Harding
  • Michael Geraghty
  • - Zuyi Wang
  • Hiroki Morizono
  • Zuyi Wang
  • Candida M Brown
  • Joseph Lin
  • J Rafael Gorospe
  • Christine Kaneski
  • Bhim S Singhal
  • Deborah Renaud

Detail Information

Publications14

  1. doi 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 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. 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...
  5. pmc 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. pmc 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 DARS-associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder
    Nicole I Wolf
    From the Department of Child Neurology N I W, T E M A, M S v d K, VU University Medical Center, Amsterdam the Neuroscience Campus Amsterdam N I W, T E M A, M S v d K, the Netherlands the NIH Undiagnosed Diseases Program C T, National Institutes of Health, Bethesda, MD the NYU Multiple Sclerosis Center I K, Department of Neurology, NYU School of Medicine, New York the Department of Radiology K A L, Hospital Kuala Lumpur, Malaysia the Department of Neurology R L, Royal Children s Hospital Murdoch Children s Research Institute R L the Department of Pediatrics R L, University of Melbourne, Australia the Department of Neurology A P, A V, Children s National Medical Center, Washington, DC the Institute for Molecular Bioscience C S, R J T, University of Queensland, St Lucia, Queensland, Australia the Departments of Integrative Systems Biology and Pediatrics R J T, George Washington University School of Medicine, Washington, DC Illumina Inc R J T, San Diego, CA and the Department of Functional Genomics M S v d K, Center for Neurogenomics and Cognitive Research, VU University, Amsterdam, The Netherlands
    Neurology 84:226-30. 2015
    ....
  9. 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
    ....
  10. doi request reprint Maternal uniparental isodisomy causing autosomal recessive GM1 gangliosidosis: a clinical report
    Jessica E King
    Department of Neurology, Children s National Medical Center, 111 Michigan Ave NW, Washington, DC, 20010, USA
    J Genet Couns 23:734-41. 2014
    ..Working with families to understand UPD when it occurs requires a secure and trusting counselor-family relationship...
  11. doi request reprint Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations
    Nicole I Wolf
    From the Departments of Child Neurology N I F, M B, M S v d K, Clinical Genetics R M L v S, E S, and Pathology M B, Neuroscience Campus N I F, M B, M S v d K, and the Department of Functional Genomics, Center for Neurogenomics and Cognitive Research M S v d K, VU University Medical Center, Amsterdam, the Netherlands the Center for Genetic Medicine Research, Department of Neurology A V, A P, Children s National Medical Center, Washington, DC the Institute of Metabolic Disease R S, Baylor Research Institute, Dallas, TX the Departments of Neurology and Neurosurgery and Human Genetics B B, Montreal Neurological Institute, Canada the Department of Paediatric Neurology C C B, Erasmus University Hospital Sophia Children s Hospital the Department of Pathology J M K, Erasmus Medical Center, Rotterdam, the Netherlands the Neuroradiology Department P S P, Centro Hospitalar do Porto, Portugal the Division of Neurology D P, Children s Hospital of Eastern Ontario, University of Ottawa, Canada the Department of Paediatric Neurology S T, Royal Belfast Hospital for Sick Children, UK the Department of Clinical Neurosciences for Children P S, Institut de Biotechnologie des Plantes
    Neurology 83:1898-905. 2014
    ..To study the clinical and radiologic spectrum and genotype-phenotype correlation of 4H (hypomyelination, hypodontia, hypogonadotropic hypogonadism) leukodystrophy caused by mutations in POLR3A or POLR3B...
  12. doi 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...
  13. 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
    ..The purpose of this study was to explore anecdotal evidence for an increase in the prevalence of autoimmune diseases in family members of patients with Aicardi-Goutières syndrome (AGS)...
  14. 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...