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Page 1
Tremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31.
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. Bernard G, et al. Among authors: vanderver a. Neurogenetics. 2010 Oct;11(4):457-64. doi: 10.1007/s10048-010-0251-8. Epub 2010 Jul 17. Neurogenetics. 2010. PMID: 20640464 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.
Focal central white matter lesions in Alexander disease.
Barreau P, Prust MJ, Crane J, Loewenstein J, Kadom N, Vanderver A. Barreau P, et al. Among authors: vanderver a. J Child Neurol. 2011 Nov;26(11):1422-4. doi: 10.1177/0883073811405381. Epub 2011 May 13. J Child Neurol. 2011. PMID: 21572052 Free PMC article.
Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy.
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. Bernard G, et al. Among authors: vanderver a. Am J Hum Genet. 2011 Sep 9;89(3):415-23. doi: 10.1016/j.ajhg.2011.07.014. Am J Hum Genet. 2011. PMID: 21855841 Free PMC article.
GFAP mutations, age at onset, and clinical subtypes in Alexander disease.
Prust M, Wang J, Morizono H, Messing A, Brenner M, Gordon E, Hartka T, Sokohl A, Schiffmann R, Gordish-Dressman H, Albin R, Amartino H, Brockman K, Dinopoulos A, Dotti MT, Fain D, Fernandez R, Ferreira J, Fleming J, Gill D, Griebel M, Heilstedt H, Kaplan P, Lewis D, Nakagawa M, Pedersen R, Reddy A, Sawaishi Y, Schneider M, Sherr E, Takiyama Y, Wakabayashi K, Gorospe JR, Vanderver A. Prust M, et al. Among authors: vanderver a. Neurology. 2011 Sep 27;77(13):1287-94. doi: 10.1212/WNL.0b013e3182309f72. Epub 2011 Sep 14. Neurology. 2011. PMID: 21917775 Free PMC article.
Neurotransmitter abnormalities and response to supplementation in SPG11.
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. Vanderver A, et al. Mol Genet Metab. 2012 Sep;107(1-2):229-33. doi: 10.1016/j.ymgme.2012.05.020. Epub 2012 Jun 1. Mol Genet Metab. 2012. PMID: 22749184 Free PMC article.
MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features.
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. Tonduti D, et al. Among authors: vanderver a. J Child Neurol. 2013 Jun;28(6):795-800. doi: 10.1177/0883073812450944. Epub 2012 Jul 17. J Child Neurol. 2013. PMID: 22805248 Free PMC article.
253 results