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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: blaser s. Brain. 2010 Oct;133(10):2971-82. doi: 10.1093/brain/awq257. Brain. 2010. PMID: 20881161 Free PMC article.
UFM1 founder mutation in the Roma population causes recessive variant of H-ABC.
Hamilton EMC, Bertini E, Kalaydjieva L, Morar B, Dojčáková D, Liu J, Vanderver A, Curiel J, Persoon CM, Diodato D, Pinelli L, van der Meij NL, Plecko B, Blaser S, Wolf NI, Waisfisz Q, Abbink TEM, van der Knaap MS; Recessive H-ABC Research Group. Hamilton EMC, et al. Among authors: blaser s. Neurology. 2017 Oct 24;89(17):1821-1828. doi: 10.1212/WNL.0000000000004578. Epub 2017 Sep 20. Neurology. 2017. PMID: 28931644 Free PMC article.
Update on Leukodystrophies: A Historical Perspective and Adapted Definition.
Kevelam SH, Steenweg ME, Srivastava S, Helman G, Naidu S, Schiffmann R, Blaser S, Vanderver A, Wolf NI, van der Knaap MS. Kevelam SH, et al. Among authors: blaser s. Neuropediatrics. 2016 Dec;47(6):349-354. doi: 10.1055/s-0036-1588020. Epub 2016 Aug 26. Neuropediatrics. 2016. PMID: 27564080 Review.
Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity.
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. Taft RJ, et al. Among authors: blaser s. Am J Hum Genet. 2013 May 2;92(5):774-80. doi: 10.1016/j.ajhg.2013.04.006. Am J Hum Genet. 2013. PMID: 23643384 Free PMC article.
391 results