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Last Name
Institution

Vanderver, Adeline

TitleAssociate Professor
InstitutionChildrens National Medical Center
DepartmentNeurology
Address111 Michigan Ave NW
Washington DC 20010
Phone(202) 4764959
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    Collapse Bibliographic 
    Collapse selected publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    1. Vrij-van den Bos S, Hol JA, La Piana R, Harting I, Vanderver A, Barkhof F, Cayami F, van Wieringen WN, Pouwels PJ, van der Knaap MS, Bernard G, Wolf NI. 4H Leukodystrophy: A Brain Magnetic Resonance Imaging Scoring System. Neuropediatrics. 2017 Mar 01. PMID: 28249300.
      View in: PubMed
    2. Jenkinson EM, Rodero MP, Kasher PR, Uggenti C, Oojageer A, Goosey LC, Rose Y, Kershaw CJ, Urquhart JE, Williams SG, Bhaskar SS, O'Sullivan J, Baerlocher GM, Haubitz M, Aubert G, Barañano KW, Barnicoat AJ, Battini R, Berger A, Blair EM, Brunstrom-Hernandez JE, Buckard JA, Cassiman DM, Caumes R, Cordelli DM, De Waele LM, Fay AJ, Ferreira P, Fletcher NA, Fryer AE, Goel H, Hemingway CA, Henneke M, Hughes I, Jefferson RJ, Kumar R, Lagae L, Landrieu PG, Lourenço CM, Malpas TJ, Mehta SG, Metz I, Naidu S, Õunap K, Panzer A, Prabhakar P, Quaghebeur G, Schiffmann R, Sherr EH, Sinnathuray KR, Soh C, Stewart HS, Stone J, Van Esch H, Van Mol CE, Vanderver A, Wakeling EL, Whitney A, Pavitt GD, Griffiths-Jones S, Rice GI, Revy P, van der Knaap MS, Livingston JH, O'Keefe RT, Crow YJ. Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts. Nat Genet. 2017 Jan 31; 49(2):317. PMID: 28138155.
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    3. Kahn I, Helman G, Vanderver A, Wells E. Anti- N-Methyl-d-Aspartate (NMDA) Receptor Encephalitis. J Child Neurol. 2017 Feb; 32(2):243-245. PMID: 27872179.
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    4. Gotoh L, Inoue K, Helman G, Mora S, Maski K, Soul JS, Bloom M, Evans SH, Goto YI, Caldovic L, Hobson GM, Vanderver A. Corrigendum to "GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease" [Mol. Genet. Metab. 111 (2014) 393-398]. Mol Genet Metab. 2016 Nov; 119(3):293. PMID: 27780564.
      View in: PubMed
    5. Ferdinandusse S, Falkenberg KD, Koster J, Mooyer PA, Jones R, van Roermund CWT, Pizzino A, Schrader M, Wanders RJA, Vanderver A, Waterham HR. ACBD5 deficiency causes a defect in peroxisomal very long-chain fatty acid metabolism. J Med Genet. 2017 May; 54(5):330-337. PMID: 27799409.
      View in: PubMed
    6. Tavasoli A, Armangue T, Ho CY, Whitehead M, Bornhorst M, Rhee J, Hwang EI, Wells EM, Packer R, van der Knaap MS, Bugiani M, Vanderver A. Alexander Disease. J Child Neurol. 2017 Feb; 32(2):184-187. PMID: 28112050.
      View in: PubMed
    7. Ulrick N, Goldstein A, Simons C, Taft RJ, Helman G, Pizzino A, Bloom M, Vogt J, Pysden K, Diodato D, Martinelli D, Monavari A, Buhas D, van Karnebeek CD, Dorboz I, Boespflug-Tanguy O, Rodriguez D, Tétreault M, Majewski J, Bernard G, Ng YS. RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection. Pediatr Neurol. 2017 Jan; 66:59-62. PMID: 27843092.
      View in: PubMed
    8. Jenkinson EM, Rodero MP, Kasher PR, Uggenti C, Oojageer A, Goosey LC, Rose Y, Kershaw CJ, Urquhart JE, Williams SG, Bhaskar SS, O'Sullivan J, Baerlocher GM, Haubitz M, Aubert G, Barañano KW, Barnicoat AJ, Battini R, Berger A, Blair EM, Brunstrom-Hernandez JE, Buckard JA, Cassiman DM, Caumes R, Cordelli DM, De Waele LM, Fay AJ, Ferreira P, Fletcher NA, Fryer AE, Goel H, Hemingway CA, Henneke M, Hughes I, Jefferson RJ, Kumar R, Lagae L, Landrieu PG, Lourenço CM, Malpas TJ, Mehta SG, Metz I, Naidu S, Õunap K, Panzer A, Prabhakar P, Quaghebeur G, Schiffmann R, Sherr EH, Sinnathuray KR, Soh C, Stewart HS, Stone J, Van Esch H, Van Mol CE, Vanderver A, Wakeling EL, Whitney A, Pavitt GD, Griffiths-Jones S, Rice GI, Revy P, van der Knaap MS, Livingston JH, O'Keefe RT, Crow YJ. Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts. Nat Genet. 2016 Oct; 48(10):1185-92. PMID: 27571260.
      View in: PubMed
    9. Kevelam SH, Steenweg ME, Srivastava S, Helman G, Naidu S, Schiffmann R, Blaser S, Vanderver A, Wolf NI, van der Knaap MS. Update on Leukodystrophies: A Historical Perspective and Adapted Definition. Neuropediatrics. 2016 Dec; 47(6):349-354. PMID: 27564080.
      View in: PubMed
    10. Vanderver A. Genetic Leukoencephalopathies in Adults. Continuum (Minneap Minn). 2016 Aug; 22(3):916-42. PMID: 27261689.
      View in: PubMed
    11. Ng YS, Alston CL, Diodato D, Morris AA, Ulrick N, Kmoch S, Houštek J, Martinelli D, Haghighi A, Atiq M, Gamero MA, Garcia-Martinez E, Kratochvílová H, Santra S, Brown RM, Brown GK, Ragge N, Monavari A, Pysden K, Ravn K, Casey JP, Khan A, Chakrapani A, Vassallo G, Simons C, McKeever K, O'Sullivan S, Childs AM, Østergaard E, Vanderver A, Goldstein A, Vogt J, Taylor RW, McFarland R. The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease. J Med Genet. 2016 Jul 13. PMID: 27412952.
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    12. Meisler MH, Helman G, Hammer MF, Fureman BE, Gaillard WD, Goldin AL, Hirose S, Ishii A, Kroner BL, Lossin C, Mefford HC, Parent JM, Patel M, Schreiber J, Stewart R, Whittemore V, Wilcox K, Wagnon JL, Pearl PL, Vanderver A, Scheffer IE. SCN8A encephalopathy: Research progress and prospects. Epilepsia. 2016 Jul; 57(7):1027-35. PMID: 27270488.
      View in: PubMed
    13. Helman G, Bonkowsky JL, Vanderver A. Neurologist Comfort in the Use of Next-Generation Sequencing Diagnostics: Current State and Future Prospects. JAMA Neurol. 2016 Jun 01; 73(6):621-2. PMID: 27043427.
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    14. Vanderver A, Simons C, Helman G, Crawford J, Wolf NI, Bernard G, Pizzino A, Schmidt JL, Takanohashi A, Miller D, Khouzam A, Rajan V, Ramos E, Chowdhury S, Hambuch T, Ru K, Baillie GJ, Grimmond SM, Caldovic L, Devaney J, Bloom M, Evans SH, Murphy JL, McNeill N, Fogel BL. Whole exome sequencing in patients with white matter abnormalities. Ann Neurol. 2016 Jun; 79(6):1031-7. PMID: 27159321.
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    15. La Piana R, Cayami FK, Tran LT, Guerrero K, van Spaendonk R, Õunap K, Pajusalu S, Haack T, Wassmer E, Timmann D, Mierzewska H, Poll-Thé BT, Patel C, Cox H, Atik T, Onay H, Ozkinay F, Vanderver A, van der Knaap MS, Wolf NI, Bernard G. Diffuse hypomyelination is not obligate for POLR3-related disorders. Neurology. 2016 Apr 26; 86(17):1622-6. PMID: 27029625; PMCID: PMC4844237 [Available on 04/26/17].
    16. Helman G, Caldovic L, Whitehead MT, Simons C, Brockmann K, Edvardson S, Bai R, Moroni I, Taylor JM, Van Haren K. Magnetic resonance imaging spectrum of succinate dehydrogenase-related infantile leukoencephalopathy. Ann Neurol. 2016 Mar; 79(3):379-86. PMID: 26642834.
      View in: PubMed
    17. Dallabona C, Abbink TE, Carrozzo R, Torraco A, Legati A, van Berkel CG, Niceta M, Langella T, Verrigni D, Rizza T, Diodato D, Piemonte F, Lamantea E, Fang M, Zhang J, Martinelli D, Bevivino E, Dionisi-Vici C, Vanderver A, Philip SG, Kurian MA, Verma IC, Bijarnia-Mahay S, Jacinto S, Furtado F, Accorsi P, Ardissone A, Moroni I, Ferrero I, Tartaglia M, Goffrini P, Ghezzi D, van der Knaap MS, Bertini E. LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance. Brain. 2016 Mar; 139(Pt 3):782-94. PMID: 26912632.
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    18. Cuadrado E, Booiman T, van Hamme JL, Jansen MH, van Dort KA, Vanderver A, Rice GI, Crow YJ, Kootstra NA, Kuijpers TW. ADAR1 Facilitates HIV-1 Replication in Primary CD4+ T Cells. PLoS One. 2015; 10(12):e0143613. PMID: 26629815; PMCID: PMC4667845.
    19. La Piana R, Uggetti C, Roncarolo F, Vanderver A, Olivieri I, Tonduti D, Helman G, Balottin U, Fazzi E, Crow YJ, Livingston J, Orcesi S. Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome. Neurology. 2016 Jan 05; 86(1):28-35. PMID: 26581299; PMCID: PMC4731289 [Available on 01/05/17].
    20. Jany PL, Agosta GE, Benko WS, Eickhoff JC, Keller SR, Köehler W, Koeller D, Mar S, Naidu S, Marie Ness J, Pareyson D, Renaud DL, Salsano E, Schiffmann R, Simon J, Vanderver A, Eichler F, van der Knaap MS, Messing A. CSF and Blood Levels of GFAP in Alexander Disease(1,2,3). eNeuro. 2015 Sep; 2(5). PMID: 26478912; PMCID: PMC4603256.
    21. Richards J, Korgenski EK, Taft RJ, Vanderver A, Bonkowsky JL. Targeted leukodystrophy diagnosis based on charges and yields for testing. Am J Med Genet A. 2015 Nov; 167A(11):2541-3. PMID: 26183797; PMCID: PMC4958453 [Available on 11/01/16].
    22. Thiffault I, Wolf NI, Forget D, Guerrero K, Tran LT, Choquet K, Lavallée-Adam M, Poitras C, Brais B, Yoon G, Sztriha L, Webster RI, Timmann D, van de Warrenburg BP, Seeger J, Zimmermann A, Máté A, Goizet C, Fung E, van der Knaap MS, Fribourg S, Vanderver A, Simons C, Taft RJ, Yates JR, Coulombe B, Bernard G. Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III. Nat Commun. 2015 Jul 07; 6:7623. PMID: 26151409; PMCID: PMC4506509.
    23. Upton KR, Gerhardt DJ, Jesuadian JS, Richardson SR, Sánchez-Luque FJ, Bodea GO, Ewing AD, Salvador-Palomeque C, van der Knaap MS, Brennan PM, Vanderver A, Faulkner GJ. Ubiquitous L1 mosaicism in hippocampal neurons. Cell. 2015 Apr 09; 161(2):228-39. PMID: 25860606; PMCID: PMC4398972.
    24. Helman G, Van Haren K, Escolar ML, Vanderver A. Emerging treatments for pediatric leukodystrophies. Pediatr Clin North Am. 2015 Jun; 62(3):649-66. PMID: 26022168.
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    25. Simons C, Griffin LB, Helman G, Golas G, Pizzino A, Bloom M, Murphy JL, Crawford J, Evans SH, Topper S, Whitehead MT, Schreiber JM, Chapman KA, Tifft C, Lu KB, Gamper H, Shigematsu M, Taft RJ, Antonellis A, Hou YM, Vanderver A. Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect. Am J Hum Genet. 2015 Apr 02; 96(4):675-81. PMID: 25817015; PMCID: PMC4385183.
    26. Helman G, Van Haren K, Bonkowsky JL, Bernard G, Pizzino A, Braverman N, Suhr D, Patterson MC, Ali Fatemi S, Leonard J, van der Knaap MS, Back SA, Damiani S, Goldman SA, Takanohashi A, Petryniak M, Rowitch D, Messing A, Wrabetz L, Schiffmann R, Eichler F, Escolar ML, Vanderver A. Disease specific therapies in leukodystrophies and leukoencephalopathies. Mol Genet Metab. 2015 Apr; 114(4):527-36. PMID: 25684057; PMCID: PMC4390468.
    27. Vanderver A, Prust M, Tonduti D, Mochel F, Hussey HM, Helman G, Garbern J, Eichler F, Labauge P, Aubourg P, Rodriguez D, Patterson MC, Van Hove JL, Schmidt J, Wolf NI, Boespflug-Tanguy O, Schiffmann R, van der Knaap MS. Case definition and classification of leukodystrophies and leukoencephalopathies. Mol Genet Metab. 2015 Apr; 114(4):494-500. PMID: 25649058; PMCID: PMC4390457.
    28. Crow YJ, Chase DS, Lowenstein Schmidt J, Szynkiewicz M, Forte GM, Gornall HL, Oojageer A, Anderson B, Pizzino A, Helman G, Abdel-Hamid MS, Abdel-Salam GM, Ackroyd S, Aeby A, Agosta G, Albin C, Allon-Shalev S, Arellano M, Ariaudo G, Aswani V, Babul-Hirji R, Baildam EM, Bahi-Buisson N, Bailey KM, Barnerias C, Barth M, Battini R, Beresford MW, Bernard G, Bianchi M, Billette de Villemeur T, Blair EM, Bloom M, Burlina AB, Carpanelli ML, Carvalho DR, Castro-Gago M, Cavallini A, Cereda C, Chandler KE, Chitayat DA, Collins AE, Sierra Corcoles C, Cordeiro NJ, Crichiutti G, Dabydeen L, Dale RC, D'Arrigo S, De Goede CG, De Laet C, De Waele LM, Denzler I, Desguerre I, Devriendt K, Di Rocco M, Fahey MC, Fazzi E, Ferrie CD, Figueiredo A, Gener B, Goizet C, Gowrinathan NR, Gowrishankar K, Hanrahan D, Isidor B, Kara B, Khan N, King MD, Kirk EP, Kumar R, Lagae L, Landrieu P, Lauffer H, Laugel V, La Piana R, Lim MJ, Lin JP, Linnankivi T, Mackay MT, Marom DR, Marques Lourenço C, McKee SA, Moroni I, Morton JE, Moutard ML, Murray K, Nabbout R, Nampoothiri S, Nunez-Enamorado N, Oades PJ, Olivieri I, Ostergaard JR, Pérez-Dueñas B, Prendiville JS, Ramesh V, Rasmussen M, Régal L, Ricci F, Rio M, Rodriguez D, Roubertie A, Salvatici E, Segers KA, Sinha GP, Soler D, Spiegel R, Stödberg TI, Straussberg R, Swoboda KJ, Suri M, Tacke U, Tan TY, te Water Naude J, Wee Teik K, Thomas MM, Till M, Tonduti D, Valente EM, Van Coster RN, van der Knaap MS, Vassallo G, Vijzelaar R, Vogt J, Wallace GB, Wassmer E, Webb HJ, Whitehouse WP, Whitney RN, Zaki MS, Zuberi SM, Livingston JH, Rozenberg F, Lebon P, Vanderver A, Orcesi S, Rice GI. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. Am J Med Genet A. 2015 Feb; 167A(2):296-312. PMID: 25604658; PMCID: PMC4382202.
    29. Parikh S, Bernard G, Leventer RJ, van der Knaap MS, van Hove J, Pizzino A, McNeill NH, Helman G, Simons C, Schmidt JL, Rizzo WB, Patterson MC, Taft RJ, Vanderver A. A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. Mol Genet Metab. 2015 Apr; 114(4):501-15. PMID: 25655951; PMCID: PMC4390485.
    30. Van Haren K, Bonkowsky JL, Bernard G, Murphy JL, Pizzino A, Helman G, Suhr D, Waggoner J, Hobson D, Vanderver A, Patterson MC. Consensus statement on preventive and symptomatic care of leukodystrophy patients. Mol Genet Metab. 2015 Apr; 114(4):516-26. PMID: 25577286.
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    31. Vanderver A, Prust M, Kadom N, Demarest S, Crow YJ, Helman G, Orcesi S, La Piana R, Uggetti C, Wang J, Gordisch-Dressman H, van der Knaap MS, Livingston JH. Early-Onset Aicardi-Goutières Syndrome: Magnetic Resonance Imaging (MRI) Pattern Recognition. J Child Neurol. 2015 Sep; 30(10):1343-8. PMID: 25535058; PMCID: PMC4476968.
    32. Wolf NI, Toro C, Kister I, Latif KA, Leventer R, Pizzino A, Simons C, Abbink TE, Taft RJ, van der Knaap MS, Vanderver A. DARS-associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder. Neurology. 2015 Jan 20; 84(3):226-30. PMID: 25527264; PMCID: PMC4335995.
    33. Wolf NI, Vanderver A, van Spaendonk RM, Schiffmann R, Brais B, Bugiani M, Sistermans E, Catsman-Berrevoets C, Kros JM, Pinto PS, Pohl D, Tirupathi S, Strømme P, de Grauw T, Fribourg S, Demos M, Pizzino A, Naidu S, Guerrero K, van der Knaap MS, Bernard G. Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations. Neurology. 2014 Nov 18; 83(21):1898-905. PMID: 25339210; PMCID: PMC4248461.
    34. Shehata L, Simeonov DR, Raams A, Wolfe L, Vanderver A, Li X, Huang Y, Garner S, Boerkoel CF, Thurm A, Herman GE, Tifft CJ, He M, Jaspers NG, Gahl WA. ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination. Am J Med Genet A. 2014 Nov; 164A(11):2892-900. PMID: 25251875; PMCID: PMC4205164.
    35. Pizzino A, Pierson TM, Guo Y, Helman G, Fortini S, Guerrero K, Saitta S, Murphy JL, Padiath Q, Xie Y, Hakonarson H, Xu X, Funari T, Fox M, Taft RJ, van der Knaap MS, Bernard G, Schiffmann R, Simons C, Vanderver A. TUBB4A de novo mutations cause isolated hypomyelination. Neurology. 2014 Sep 02; 83(10):898-902. PMID: 25085639; PMCID: PMC4153852.
    36. Pouwels PJ, Vanderver A, Bernard G, Wolf NI, Dreha-Kulczewksi SF, Deoni SC, Bertini E, Kohlschütter A, Richardson W, Ffrench-Constant C, Köhler W, Rowitch D, Barkovich AJ. Hypomyelinating leukodystrophies: translational research progress and prospects. Ann Neurol. 2014 Jul; 76(1):5-19. PMID: 24916848.
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    37. Cuadrado E, Vanderver A, Brown KJ, Sandza A, Takanohashi A, Jansen MH, Anink J, Herron B, Orcesi S, Olivieri I, Rice GI, Aronica E, Lebon P, Crow YJ, Hol EM, Kuijpers TW. Aicardi-Goutières syndrome harbours abundant systemic and brain-reactive autoantibodies. Ann Rheum Dis. 2015 Oct; 74(10):1931-9. PMID: 24906636.
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    38. Renvoisé B, Chang J, Singh R, Yonekawa S, FitzGibbon EJ, Mankodi A, Vanderver A, Schindler A, Toro C, Gahl WA, Mahuran DJ, Blackstone C, Pierson TM. Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11. Ann Clin Transl Neurol. 2014 Jun 01; 1(6):379-389. PMID: 24999486.
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    39. Dallabona C, Diodato D, Kevelam SH, Haack TB, Wong LJ, Salomons GS, Baruffini E, Melchionda L, Mariotti C, Strom TM, Meitinger T, Prokisch H, Chapman K, Colley A, Rocha H, Ounap K, Schiffmann R, Salsano E, Savoiardo M, Hamilton EM, Abbink TE, Wolf NI, Ferrero I, Lamperti C, Zeviani M, Vanderver A, Ghezzi D, van der Knaap MS. Novel (ovario) leukodystrophy related to AARS2 mutations. Neurology. 2014 Jun 10; 82(23):2063-71. PMID: 24808023; PMCID: PMC4118500.
    40. King JE, Dexter A, Gadi I, Zvereff V, Martin M, Bloom M, Vanderver A, Pizzino A, Schmidt JL. Maternal uniparental isodisomy causing autosomal recessive GM1 gangliosidosis: a clinical report. J Genet Couns. 2014 Oct; 23(5):734-41. PMID: 24777551.
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    41. Hamilton EM, Polder E, Vanderver A, Naidu S, Schiffmann R, Fisher K, Raguž AB, Blumkin L. Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation. Brain. 2014 Jul; 137(Pt 7):1921-30. PMID: 24785942; PMCID: PMC4345790.
    42. Rice GI, del Toro Duany Y, Jenkinson EM, Forte GM, Anderson BH, Ariaudo G, Bader-Meunier B, Baildam EM, Battini R, Beresford MW, Casarano M, Chouchane M, Cimaz R, Collins AE, Cordeiro NJ, Dale RC, Davidson JE, De Waele L, Desguerre I, Faivre L, Fazzi E, Isidor B, Lagae L, Latchman AR, Lebon P, Li C, Livingston JH, Lourenço CM, Mancardi MM, Masurel-Paulet A, McInnes IB, Menezes MP, Mignot C, O'Sullivan J, Orcesi S, Picco PP, Riva E, Robinson RA, Rodriguez D, Salvatici E, Scott C, Szybowska M, Tolmie JL, Vanderver A, Vanhulle C, Vieira JP, Webb K, Whitney RN, Williams SG, Wolfe LA, Zuberi SM, Hur S, Crow YJ. Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling. Nat Genet. 2014 May; 46(5):503-9. PMID: 24686847; PMCID: PMC4004585.
    43. Fraser JL, Vanderver A, Yang S, Chang T, Cramp L, Vezina G, Lichter-Konecki U, Cusmano-Ozog KP, Smpokou P, Chapman KA, Zand DJ. Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies. Mol Genet Metab Rep. 2014; 1:66-70. PMID: 27896076.
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    44. Han S, Lin YC, Wu T, Salgado AD, Mexhitaj I, Wuest SC, Romm E, Ohayon J, Goldbach-Mansky R, Vanderver A, Marques A, Toro C, Williamson P, Cortese I, Bielekova B. Comprehensive immunophenotyping of cerebrospinal fluid cells in patients with neuroimmunological diseases. J Immunol. 2014 Mar 15; 192(6):2551-63. PMID: 24510966; PMCID: PMC4045479.
    45. Vanderver A, Tonduti D, Kahn I, Schmidt J, Medne L, Vento J, Chapman KA, Lanpher B, Pearl P, Gropman A, Lourenco C, Bamforth JS, Sharpe C, Pineda M, Schallner J, Bodamer O, Orcesi S, Oberstein SA, Sistermans EA, Yntema HG, Bonnemann C, Waldman AT, van der Knaap MS. Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations. Am J Med Genet A. 2014 Mar; 164A(3):627-33. PMID: 24375884.
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    46. Gotoh L, Inoue K, Helman G, Mora S, Maski K, Soul JS, Bloom M, Evans SH, Goto Y, Caldovic L, Hobson GM, Vanderver A. GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease. Mol Genet Metab. 2014 Mar; 111(3):393-8. PMID: 24374284; PMCID: PMC4183365.
    47. Rice GI, Forte GM, Szynkiewicz M, Chase DS, Aeby A, Abdel-Hamid MS, Ackroyd S, Allcock R, Bailey KM, Balottin U, Barnerias C, Bernard G, Bodemer C, Botella MP, Cereda C, Chandler KE, Dabydeen L, Dale RC, De Laet C, De Goede CG, Del Toro M, Effat L, Enamorado NN, Fazzi E, Gener B, Haldre M, Lin JP, Livingston JH, Lourenco CM, Marques W, Oades P, Peterson P, Rasmussen M, Roubertie A, Schmidt JL, Shalev SA, Simon R, Spiegel R, Swoboda KJ, Temtamy SA, Vassallo G, Vilain CN, Vogt J, Wermenbol V, Whitehouse WP, Soler D, Olivieri I, Orcesi S, Aglan MS, Zaki MS, Abdel-Salam GM, Vanderver A, Kisand K, Rozenberg F, Lebon P, Crow YJ. Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study. Lancet Neurol. 2013 Dec; 12(12):1159-69. PMID: 24183309; PMCID: PMC4349523.
    48. Vanderver A, Simons C, Schmidt JL, Pearl PL, Bloom M, Lavenstein B, Miller D, Grimmond SM, Taft RJ. Identification of a novel de novo p.Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe epilepsy. Pediatr Neurol. 2014 Jan; 50(1):112-4. PMID: 24120652; PMCID: PMC4303471.
    49. La Piana R, Tonduti D, Gordish Dressman H, Schmidt JL, Murnick J, Brais B, Bernard G, Vanderver A. Brain magnetic resonance imaging (MRI) pattern recognition in Pol III-related leukodystrophies. J Child Neurol. 2014 Feb; 29(2):214-20. PMID: 24105487.
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    50. Giorgio E, Rolyan H, Kropp L, Chakka AB, Yatsenko S, Di Gregorio E, Lacerenza D, Vaula G, Talarico F, Mandich P, Toro C, Pierre EE, Labauge P, Capellari S, Cortelli P, Vairo FP, Miguel D, Stubbolo D, Marques LC, Gahl W, Boespflug-Tanguy O, Melberg A, Hassin-Baer S, Cohen OS, Pjontek R, Grau A, Klopstock T, Fogel B, Meijer I, Rouleau G, Bouchard JP, Ganapathiraju M, Vanderver A, Dahl N, Hobson G, Brusco A, Brussino A, Padiath QS. Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression. Hum Mutat. 2013 Aug; 34(8):1160-71. PMID: 23649844; PMCID: PMC3714349.
    51. Depienne C, Bugiani M, Dupuits C, Galanaud D, Touitou V, Postma N, van Berkel C, Polder E, Tollard E, Darios F, Brice A, de Die-Smulders CE, Vles JS, Vanderver A, Uziel G, Yalcinkaya C, Frints SG, Kalscheuer VM, Klooster J, Kamermans M, Abbink TE, Wolf NI, Sedel F, van der Knaap MS. Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study. Lancet Neurol. 2013 Jul; 12(7):659-68. PMID: 23707145.
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    52. Taft RJ, Vanderver A, Leventer RJ, Damiani SA, Simons C, Grimmond SM, Miller D, Schmidt J, Lockhart PJ, Pope K, Ru K, Crawford J, Rosser T, de Coo IF, Juneja M, Verma IC, Prabhakar P, Blaser S, Raiman J, Pouwels PJ, Bevova MR, Abbink TE, van der Knaap MS, Wolf NI. Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity. Am J Hum Genet. 2013 May 02; 92(5):774-80. PMID: 23643384; PMCID: PMC3644624.
    53. Simons C, Wolf NI, McNeil N, Caldovic L, Devaney JM, Takanohashi A, Crawford J, Ru K, Grimmond SM, Miller D, Tonduti D, Schmidt JL, Chudnow RS, van Coster R, Lagae L, Kisler J, Sperner J, van der Knaap MS, Schiffmann R, Taft RJ, Vanderver A. A de novo mutation in the ß-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum. Am J Hum Genet. 2013 May 02; 92(5):767-73. PMID: 23582646; PMCID: PMC3644625.
    54. Kevelam SH, Rodenburg RJ, Wolf NI, Ferreira P, Lunsing RJ, Nijtmans LG, Mitchell A, Arroyo HA, Rating D, Vanderver A, van Berkel CG, Abbink TE, Heutink P, van der Knaap MS. NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern. Neurology. 2013 Apr 23; 80(17):1577-83. PMID: 23553477; PMCID: PMC3662327.
    55. Takanohashi A, Prust M, Wang J, Gordish-Dressman H, Bloom M, Rice GI, Schmidt JL, Crow YJ, Lebon P, Kuijpers TW, Nagaraju K, Vanderver A. Elevation of proinflammatory cytokines in patients with Aicardi-Goutières syndrome. Neurology. 2013 Mar 12; 80(11):997-1002. PMID: 23408864; PMCID: PMC3653200.
    56. Daoud H, Tétreault M, Gibson W, Guerrero K, Cohen A, Gburek-Augustat J, Synofzik M, Brais B, Stevens CA, Sanchez-Carpintero R, Goizet C, Naidu S, Vanderver A, Bernard G. Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism. J Med Genet. 2013 Mar; 50(3):194-7. PMID: 23355746.
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    57. Vanderver A, Tonduti D, Bernard G, Lai J, Rossi C, Carosso G, Quezado M, Wong K, Schiffmann R. More than hypomyelination in Pol-III disorder. J Neuropathol Exp Neurol. 2013 Jan; 72(1):67-75. PMID: 23242285; PMCID: PMC3797528.
    58. Vanderver A, Hussey H, Schmidt JL, Pastor W, Hoffman HJ. Relative incidence of inherited white matter disorders in childhood to acquired pediatric demyelinating disorders. Semin Pediatr Neurol. 2012 Dec; 19(4):219-23. PMID: 23245555; PMCID: PMC3797524.
    59. Schmidt JL, Olivieri I, Vento JM, Fazzi E, Gordish-Dressman H, Orcesi S, Vanderver A. Family history of autoimmune disease in patients with Aicardi-Goutières syndrome. Clin Dev Immunol. 2012; 2012:206730. PMID: 23251212; PMCID: PMC3508752.
    60. Rice GI, Kasher PR, Forte GM, Mannion NM, Greenwood SM, Szynkiewicz M, Dickerson JE, Bhaskar SS, Zampini M, Briggs TA, Jenkinson EM, Bacino CA, Battini R, Bertini E, Brogan PA, Brueton LA, Carpanelli M, De Laet C, de Lonlay P, del Toro M, Desguerre I, Fazzi E, Garcia-Cazorla A, Heiberg A, Kawaguchi M, Kumar R, Lin JP, Lourenco CM, Male AM, Marques W, Mignot C, Olivieri I, Orcesi S, Prabhakar P, Rasmussen M, Robinson RA, Rozenberg F, Schmidt JL, Steindl K, Tan TY, van der Merwe WG, Vanderver A, Vassallo G, Wakeling EL, Wassmer E, Whittaker E, Livingston JH, Lebon P, Suzuki T, McLaughlin PJ, Keegan LP, O'Connell MA, Lovell SC, Crow YJ. Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. Nat Genet. 2012 Nov; 44(11):1243-8. PMID: 23001123; PMCID: PMC4154508.
    61. Tonduti D, Vanderver A, Berardinelli A, Schmidt JL, Collins CD, Novara F, Genni AD, Mita A, Triulzi F, Brunstrom-Hernandez JE, Zuffardi O, Balottin U, Orcesi S. MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features. J Child Neurol. 2013 Jun; 28(6):795-800. PMID: 22805248; PMCID: PMC4155008.
    62. Vanderver A, Tonduti D, Auerbach S, Schmidt JL, Parikh S, Gowans GC, Jackson KE, Brock PL, Patterson M, Nehrebecky M, Godfrey R, Zein WM, Gahl W, Toro C. Neurotransmitter abnormalities and response to supplementation in SPG11. Mol Genet Metab. 2012 Sep; 107(1-2):229-33. PMID: 22749184; PMCID: PMC3517733.
    63. La Piana R, Vanderver A, van der Knaap M, Roux L, Tampieri D, Brais B, Bernard G. Adult-onset vanishing white matter disease due to a novel EIF2B3 mutation. Arch Neurol. 2012 Jun; 69(6):765-68. PMID: 22312164; PMCID: PMC4154510.
    64. Steenweg ME, Vanderver A, Ceulemans B, Prabhakar P, Régal L, Fattal-Valevski A, Richer L, Simonetti BG, Barkhof F, Rodenburg RJ, Pouwels PJ, van der Knaap MS. Novel infantile-onset leukoencephalopathy with high lactate level and slow improvement. Arch Neurol. 2012 Jun; 69(6):718-22. PMID: 22312165; PMCID: PMC4154514.
    65. Vanderver A. If at first you don't succeed, test again (for peroxisomal biogenesis disorders). Neurology. 2012 Apr 24; 78(17):1288-9. PMID: 22459679.
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    66. Brown KJ, Vanderver A, Hoffman EP, Schiffmann R, Hathout Y. Characterization of Transferrin Glycopeptide Structures in Human Cerebrospinal Fluid. Int J Mass Spectrom. 2012 Feb 15; 312:97-106. PMID: 22408387.
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    67. Tétreault M, Choquet K, Orcesi S, Tonduti D, Balottin U, Teichmann M, Fribourg S, Schiffmann R, Brais B, Vanderver A, Bernard G. Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy. Am J Hum Genet. 2011 Nov 11; 89(5):652-5. PMID: 22036172; PMCID: PMC3213403.
    68. Bernard G, Chouery E, Putorti ML, Tétreault M, Takanohashi A, Carosso G, Clément I, Boespflug-Tanguy O, Rodriguez D, Delague V, Abou Ghoch J, Jalkh N, Dorboz I, Fribourg S, Teichmann M, Megarbane A, Schiffmann R, Vanderver A, Brais B. Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy. Am J Hum Genet. 2011 Sep 09; 89(3):415-23. PMID: 21855841; PMCID: PMC3169829.
    69. Ah Mew N, Loewenstein JB, Kadom N, Lichter-Konecki U, Gropman AL, Martin JM, Vanderver A. MRI features of 4 female patients with pyruvate dehydrogenase E1 alpha deficiency. Pediatr Neurol. 2011 Jul; 45(1):57-9. PMID: 21723463; PMCID: PMC3129538.
    70. Barreau P, Prust MJ, Crane J, Loewenstein J, Kadom N, Vanderver A. Focal central white matter lesions in Alexander disease. J Child Neurol. 2011 Nov; 26(11):1422-4. PMID: 21572052; PMCID: PMC4154515.
    71. Formolo CA, Mintz M, Takanohashi A, Brown KJ, Vanderver A, Halligan B, Hathout Y. Time series proteome profiling. Methods Mol Biol. 2011; 694:365-77. PMID: 21082445; PMCID: PMC4151876.
    72. Steenweg ME, Vanderver A, Blaser S, Bizzi A, de Koning TJ, Mancini GM, van Wieringen WN, Barkhof F, Wolf NI, van der Knaap MS. Magnetic resonance imaging pattern recognition in hypomyelinating disorders. Brain. 2010 Oct; 133(10):2971-82. PMID: 20881161; PMCID: PMC3589901.
    73. Bernard G, Thiffault I, Tetreault M, Putorti ML, Bouchard I, Sylvain M, Melançon S, Laframboise R, Langevin P, Bouchard JP, Vanasse M, Vanderver A, Sébire G, Brais B. Tremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31. Neurogenetics. 2010 Oct; 11(4):457-64. PMID: 20640464; PMCID: PMC4147760.
    74. Rice GI, Bond J, Asipu A, Brunette RL, Manfield IW, Carr IM, Fuller JC, Jackson RM, Lamb T, Briggs TA, Ali M, Gornall H, Couthard LR, Aeby A, Attard-Montalto SP, Bertini E, Bodemer C, Brockmann K, Brueton LA, Corry PC, Desguerre I, Fazzi E, Cazorla AG, Gener B, Hamel BC, Heiberg A, Hunter M, van der Knaap MS, Kumar R, Lagae L, Landrieu PG, Lourenco CM, Marom D, McDermott MF, van der Merwe W, Orcesi S, Prendiville JS, Rasmussen M, Shalev SA, Soler DM, Shinawi M, Spiegel R, Tan TY, Vanderver A, Wakeling EL, Wassmer E, Whittaker E, Lebon P, Stetson DB, Bonthron DT, Crow YJ. Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response. Nat Genet. 2009 Jul; 41(7):829-32. PMID: 19525956; PMCID: PMC4154505.
    75. Singh RK, Leshner RT, Kadom N, Vanderver AL. Isolated cranial nerve enhancement in metachromatic leukodystrophy. Pediatr Neurol. 2009 May; 40(5):380-2. PMID: 19380076; PMCID: PMC2705062.
    76. Kantor L, Pinchasi D, Mintz M, Hathout Y, Vanderver A, Elroy-Stein O. A point mutation in translation initiation factor 2B leads to a continuous hyper stress state in oligodendroglial-derived cells. PLoS One. 2008; 3(11):e3783. PMID: 19023445; PMCID: PMC2583043.
    77. Wong LJ, Naviaux RK, Brunetti-Pierri N, Zhang Q, Schmitt ES, Truong C, Milone M, Cohen BH, Wical B, Ganesh J, Basinger AA, Burton BK, Swoboda K, Gilbert DL, Vanderver A, Saneto RP, Maranda B, Arnold G, Abdenur JE, Waters PJ, Copeland WC. Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. Hum Mutat. 2008 Sep; 29(9):E150-72. PMID: 18546365.
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    78. Mintz M, Vanderver A, Brown KJ, Lin J, Wang Z, Kaneski C, Schiffmann R, Nagaraju K, Hoffman EP, Hathout Y. Time series proteome profiling to study endoplasmic reticulum stress response. J Proteome Res. 2008 Jun; 7(6):2435-44. PMID: 18435558; PMCID: PMC4154506.
    79. Maletkovic J, Schiffmann R, Gorospe JR, Gordon ES, Mintz M, Hoffman EP, Alper G, Lynch DR, Singhal BS, Harding C, Amartino H, Brown CM, Chan A, Renaud D, Geraghty M, Jensen L, Senbil N, Kadom N, Nazarian J. Genetic and clinical heterogeneity in eIF2B-related disorder. J Child Neurol. 2008 Feb; 23(2):205-15. PMID: 18263758.
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    80. Rice G, Patrick T, Parmar R, Taylor CF, Aeby A, Aicardi J, Artuch R, Montalto SA, Bacino CA, Barroso B, Baxter P, Benko WS, Bergmann C, Bertini E, Biancheri R, Blair EM, Blau N, Bonthron DT, Briggs T, Brueton LA, Brunner HG, Burke CJ, Carr IM, Carvalho DR, Chandler KE, Christen HJ, Corry PC, Cowan FM, Cox H, D'Arrigo S, Dean J, De Laet C, De Praeter C, Dery C, Ferrie CD, Flintoff K, Frints SG, Garcia-Cazorla A, Gener B, Goizet C, Goutieres F, Green AJ, Guet A, Hamel BC, Hayward BE, Heiberg A, Hennekam RC, Husson M, Jackson AP, Jayatunga R, Jiang YH, Kant SG, Kao A, King MD, Kingston HM, Klepper J, van der Knaap MS, Kornberg AJ, Kotzot D, Kratzer W, Lacombe D, Lagae L, Landrieu PG, Lanzi G, Leitch A, Lim MJ, Livingston JH, Lourenco CM, Lyall EG, Lynch SA, Lyons MJ, Marom D, McClure JP, McWilliam R, Melancon SB, Mewasingh LD, Moutard ML, Nischal KK, Ostergaard JR, Prendiville J, Rasmussen M, Rogers RC, Roland D, Rosser EM, Rostasy K, Roubertie A, Sanchis A, Schiffmann R, Scholl-Burgi S, Seal S, Shalev SA, Corcoles CS, Sinha GP, Soler D, Spiegel R, Stephenson JB, Tacke U, Tan TY, Till M, Tolmie JL, Tomlin P, Vagnarelli F, Valente EM, Van Coster RN, Van der Aa N, Vanderver A, Vles JS, Voit T, Wassmer E, Weschke B, Whiteford ML, Willemsen MA, Zankl A, Zuberi SM, Orcesi S, Fazzi E, Lebon P, Crow YJ. Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet. 2007 Oct; 81(4):713-25. PMID: 17846997; PMCID: PMC2227922.
    81. Vanderver A, Schiffmann R, Timmons M, Kellersberger KA, Fabris D, Hoffman EP, Maletkovic J, Hathout Y. Decreased asialotransferrin in cerebrospinal fluid of patients with childhood-onset ataxia and central nervous system hypomyelination/vanishing white matter disease. Clin Chem. 2005 Nov; 51(11):2031-42. PMID: 16155092.
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    82. Vanderver A. Tools for diagnosis of leukodystrophies and other disorders presenting with white matter disease. Curr Neurol Neurosci Rep. 2005 Mar; 5(2):110-8. PMID: 15743548.
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