Adeline Vanderver

Summary

Publications

  1. doi request reprint Early-Onset Aicardi-Goutières Syndrome: Magnetic Resonance Imaging (MRI) Pattern Recognition
    Adeline Vanderver
    Center for Genetic Medicine Research, Children s National Health System Washington, DC, USA Department of Neurology, Children s National Health System, Washington, DC, USA
    J Child Neurol 30:1343-8. 2015
  2. doi request reprint Case definition and classification of leukodystrophies and leukoencephalopathies
    Adeline Vanderver
    Department of Neurology and Center for Genetic Medicine Research, Children s National Health System, Washington DC, USA Department of Integrated Systems Biology, George Washington University School of Medicine, Washington DC, USA Electronic address
    Mol Genet Metab 114:494-500. 2015
  3. pmc 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. doi request reprint Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome
    Roberta La Piana
    From the Department of Neuroradiology R L P and Laboratory of Neurogenetics of Motion R L P, Montreal Neurological Institute and Hospital, McGill University, Canada Unit of Neuroradiology C U, Department of Radiology, San Carlo Borromeo Hospital, Milan, Italy Public Health Research Institute of the University of Montreal F R, Canada Department of Neurology A V, G H, Children s National Health System, Washington, DC Child Neurology and Psychiatry Unit I O, U B, S O, C Mondino National Neurological Institute, Pavia Unit of Child Neurology and Psychiatry D T, U B, Department of Brain and Behavioural Sciences, University of Pavia Department of Child Neurology D T, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan Department of Clinical and Experimental Sciences E F, Civil Hospital and University of Brescia, Italy Imagine Institute Y J C, Paris Descartes University, INSERM UMR 1163, Paris, France Manchester Centre for Genomic Medicine Y J C, Manchester Academic Health Sciences Centre, University of Manchester and the Department of Paediatric Neurology J L, Leeds Teaching Hospitals NHS Trust, UK
    Neurology 86:28-35. 2016
  9. 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
  10. doi request reprint Disease specific therapies in leukodystrophies and leukoencephalopathies
    Guy Helman
    Department of Neurology, Children s National Health System, Washington, DC, USA
    Mol Genet Metab 114:527-36. 2015

Collaborators

  • Marjo S van der Knaap
  • Raphael Schiffmann
  • Davide Tonduti
  • Simona Orcesi
  • Yanick J Crow
  • Yetrib Hathout
  • Johanna Schmidt
  • Elisa Fazzi
  • Matthew T Whitehead
  • John H Livingston
  • Odile Boespflug-Tanguy
  • Pierre Labauge
  • Ilya Kister
  • Mercedes Pineda
  • David Miller
  • David R Lynch
  • Guy Helman
  • Keith Van Haren
  • Amy Pizzino
  • Nicole I Wolf
  • Asako Takanohashi
  • Michelle Mintz
  • Genevieve Bernard
  • Roberta La Piana
  • Ryan J Taft
  • Cas Simons
  • Joshua L Bonkowsky
  • Marc C Patterson
  • Dean Suhr
  • Maria L Escolar
  • Jessica E King
  • Miriam Bloom
  • Nicholas Ah Mew
  • Catherine A Formolo
  • Kanneboyina Nagaraju
  • Kristy J Brown
  • Nadja Kadom
  • Jelena Maletkovic
  • Eric P Hoffman
  • Simon Edvardson
  • Umberto Balottin
  • Ivana Olivieri
  • J Michael Taylor
  • Renkui Bai
  • Isabella Moroni
  • Carla Uggetti
  • Ljubica Caldovic
  • Federico Roncarolo
  • Knut Brockmann
  • Steven A Goldman
  • Truus E M Abbink
  • Don Hobson
  • Camilo Toro
  • Jeff Leonard
  • Richard Leventer
  • Jennifer L Murphy
  • Kartikasalwah Abd Latif
  • Jacque Waggoner
  • Albee Messing
  • S Ali Fatemi
  • Florian Eichler
  • David Rowitch
  • Nancy Braverman
  • MAGDALENA PETRYNIAK
  • Stephen Damiani
  • Stephen A Back
  • Lawrence Wrabetz
  • Sandya Tirupathi
  • Daniela Pohl
  • Michelle Demos
  • Amy Dexter
  • Petter Strømme
  • Johan M Kros
  • Meaghan Martin
  • Sebastien Fribourg
  • Bernard Brais
  • Inder Gadi
  • Marianna Bugiani
  • Sakkubai Naidu
  • Val Zvereff
  • Ton de Grauw
  • Coriene Catsman-Berrevoets
  • Rosalina M L van Spaendonk
  • Erik Sistermans
  • Kether Guerrero
  • Pedro Soares Pinto
  • Pierre Lebon
  • Morgan Prust
  • Jichuan Wang
  • Gillian I Rice

Detail Information

Publications22

  1. doi request reprint Early-Onset Aicardi-Goutières Syndrome: Magnetic Resonance Imaging (MRI) Pattern Recognition
    Adeline Vanderver
    Center for Genetic Medicine Research, Children s National Health System Washington, DC, USA Department of Neurology, Children s National Health System, Washington, DC, USA
    J Child Neurol 30:1343-8. 2015
    ..9% and specificity of 96.9%. We identify a panel of MRI features predictive of Aicardi-Goutières syndrome in young patients that would differentiate it from other leukoencephalopathies. ..
  2. doi request reprint Case definition and classification of leukodystrophies and leukoencephalopathies
    Adeline Vanderver
    Department of Neurology and Center for Genetic Medicine Research, Children s National Health System, Washington DC, USA Department of Integrated Systems Biology, George Washington University School of Medicine, Washington DC, USA Electronic address
    Mol Genet Metab 114:494-500. 2015
    ..An approved definition of the term leukodystrophy does not currently exist. The lack of a precise case definition hampers efforts to study the epidemiology and the relevance of genetic white matter disorders to public health...
  3. pmc 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
    ....
  4. 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...
  5. 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...
  6. 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...
  7. 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...
  8. doi request reprint Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome
    Roberta La Piana
    From the Department of Neuroradiology R L P and Laboratory of Neurogenetics of Motion R L P, Montreal Neurological Institute and Hospital, McGill University, Canada Unit of Neuroradiology C U, Department of Radiology, San Carlo Borromeo Hospital, Milan, Italy Public Health Research Institute of the University of Montreal F R, Canada Department of Neurology A V, G H, Children s National Health System, Washington, DC Child Neurology and Psychiatry Unit I O, U B, S O, C Mondino National Neurological Institute, Pavia Unit of Child Neurology and Psychiatry D T, U B, Department of Brain and Behavioural Sciences, University of Pavia Department of Child Neurology D T, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan Department of Clinical and Experimental Sciences E F, Civil Hospital and University of Brescia, Italy Imagine Institute Y J C, Paris Descartes University, INSERM UMR 1163, Paris, France Manchester Centre for Genomic Medicine Y J C, Manchester Academic Health Sciences Centre, University of Manchester and the Department of Paediatric Neurology J L, Leeds Teaching Hospitals NHS Trust, UK
    Neurology 86:28-35. 2016
    ..To perform an updated characterization of the neuroradiologic features of Aicardi-Goutières syndrome (AGS)...
  9. 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...
  10. doi request reprint Disease specific therapies in leukodystrophies and leukoencephalopathies
    Guy Helman
    Department of Neurology, Children s National Health System, Washington, DC, USA
    Mol Genet Metab 114:527-36. 2015
    ..While the overwhelming consensus is that these disorders collectively are symptomatically treatable, leukodystrophy patients are in need of advanced therapies and if possible, a cure. ..
  11. 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...
  12. doi request reprint Consensus statement on preventive and symptomatic care of leukodystrophy patients
    Keith Van Haren
    Department of Neurology, Lucile Packard Children s Hospital and Stanford University School of Medicine, Stanford, CA, USA Electronic address
    Mol Genet Metab 114:516-26. 2015
    ..We also outline the need for future research to prioritize clinical needs and subsequently develop, validate, and optimize specific care strategies. ..
  13. pmc 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
    ....
  14. 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
    ....
  15. 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)...
  16. 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...
  17. doi request reprint Magnetic resonance imaging spectrum of succinate dehydrogenase-related infantile leukoencephalopathy
    Guy Helman
    Department of Neurology, Children s National Health System, Washington, DC
    Ann Neurol 79:379-86. 2016
    ..Succinate dehydrogenase-deficient leukoencephalopathy is a complex II-related mitochondrial disorder for which the clinical phenotype, neuroimaging pattern, and genetic findings have not been comprehensively reviewed...
  18. pmc MRI features of 4 female patients with pyruvate dehydrogenase E1 alpha deficiency
    Nicholas Ah Mew
    Division of Genetics and Metabolism, Children s National Medical Center, Washington, DC 20010, USA
    Pediatr Neurol 45:57-9. 2011
    ....
  19. doi request reprint Emerging treatments for pediatric leukodystrophies
    Guy Helman
    Department of Neurology, Children s National Health System, 111 Michigan Avenue, Northwest, Washington, DC 20010, USA Center for Genetic Medicine Research, Children s National Health System, 111 Michigan Avenue, Northwest, Washington, DC 20010, USA
    Pediatr Clin North Am 62:649-66. 2015
    ..As investigators are able to shift care from symptomatic management of disorders to targeted therapeutics, the unmet therapeutic needs could be reduced for these patients. ..
  20. pmc 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...
  21. 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...
  22. 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...