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253 results

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Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.
Hamilton EM, Polder E, Vanderver A, Naidu S, Schiffmann R, Fisher K, Raguž AB, Blumkin L; H-ABC Research Group; van Berkel CG, Waisfisz Q, Simons C, Taft RJ, Abbink TE, Wolf NI, van der Knaap MS. Hamilton EM, et al. Among authors: vanderver a. Brain. 2014 Jul;137(Pt 7):1921-30. doi: 10.1093/brain/awu110. Epub 2014 Apr 30. Brain. 2014. PMID: 24785942 Free PMC article.
Clinical and molecular phenotype of Aicardi-Goutieres syndrome.
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, V… See abstract for full author list ➔ Rice G, et al. Among authors: vanderver a. Am J Hum Genet. 2007 Oct;81(4):713-25. doi: 10.1086/521373. Epub 2007 Sep 4. Am J Hum Genet. 2007. PMID: 17846997 Free PMC article.
Genetic and clinical heterogeneity in eIF2B-related disorder.
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, Yuanjian Feng, Zuyi Wang, Hartka T, Morizono H, Vanderver A. Maletkovic J, et al. Among authors: vanderver a. J Child Neurol. 2008 Feb;23(2):205-15. doi: 10.1177/0883073807308705. J Child Neurol. 2008. PMID: 18263758
Time series proteome profiling to study endoplasmic reticulum stress response.
Mintz M, Vanderver A, Brown KJ, Lin J, Wang Z, Kaneski C, Schiffmann R, Nagaraju K, Hoffman EP, Hathout Y. Mintz M, et al. Among authors: vanderver a. J Proteome Res. 2008 Jun;7(6):2435-44. doi: 10.1021/pr700842m. Epub 2008 Apr 25. J Proteome Res. 2008. PMID: 18435558 Free PMC article.
Cerebellar ataxia with elevated cerebrospinal free sialic acid (CAFSA).
Mochel F, Sedel F, Vanderver A, Engelke UF, Barritault J, Yang BZ, Kulkarni B, Adams DR, Clot F, Ding JH, Kaneski CR, Verheijen FW, Smits BW, Seguin F, Brice A, Vanier MT, Huizing M, Schiffmann R, Durr A, Wevers RA. Mochel F, et al. Among authors: vanderver a. Brain. 2009 Mar;132(Pt 3):801-9. doi: 10.1093/brain/awn355. Epub 2009 Jan 19. Brain. 2009. PMID: 19153153 Free PMC article.
New-onset afebrile seizures in infants: role of neuroimaging.
Hsieh DT, Chang T, Tsuchida TN, Vezina LG, Vanderver A, Siedel J, Brown K, Berl MM, Stephens S, Zeitchick A, Gaillard WD. Hsieh DT, et al. Among authors: vanderver a. Neurology. 2010 Jan 12;74(2):150-6. doi: 10.1212/WNL.0b013e3181c91847. Neurology. 2010. PMID: 20065250 Free PMC article.
Magnetic resonance imaging pattern recognition in hypomyelinating disorders.
Steenweg ME, Vanderver A, Blaser S, Bizzi A, de Koning TJ, Mancini GM, van Wieringen WN, Barkhof F, Wolf NI, van der Knaap MS. Steenweg ME, et al. Among authors: vanderver a. Brain. 2010 Oct;133(10):2971-82. doi: 10.1093/brain/awq257. Brain. 2010. PMID: 20881161 Free PMC article.
253 results