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271 results

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Page 1
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.
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.
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.
More than hypomyelination in Pol-III disorder.
Vanderver A, Tonduti D, Bernard G, Lai J, Rossi C, Carosso G, Quezado M, Wong K, Schiffmann R. Vanderver A, et al. J Neuropathol Exp Neurol. 2013 Jan;72(1):67-75. doi: 10.1097/NEN.0b013e31827c99d2. J Neuropathol Exp Neurol. 2013. PMID: 23242285 Free PMC article.
Elevation of proinflammatory cytokines in patients with Aicardi-Goutières syndrome.
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. Takanohashi A, et al. Among authors: vanderver a. Neurology. 2013 Mar 12;80(11):997-1002. doi: 10.1212/WNL.0b013e3182872694. Epub 2013 Feb 13. Neurology. 2013. PMID: 23408864 Free PMC article.
NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern.
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. Kevelam SH, et al. Among authors: vanderver a. Neurology. 2013 Apr 23;80(17):1577-83. doi: 10.1212/WNL.0b013e31828f1914. Epub 2013 Apr 3. Neurology. 2013. PMID: 23553477 Free PMC article.
A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum.
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. Simons C, et al. Among authors: vanderver a. Am J Hum Genet. 2013 May 2;92(5):767-73. doi: 10.1016/j.ajhg.2013.03.018. Epub 2013 Apr 11. Am J Hum Genet. 2013. PMID: 23582646 Free PMC article.
271 results