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Case definition and classification of leukodystrophies and leukoencephalopathies.
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; GLIA Consortium. Vanderver A, et al. Among authors: van hove jl, van der knaap ms. Mol Genet Metab. 2015 Apr;114(4):494-500. doi: 10.1016/j.ymgme.2015.01.006. Epub 2015 Jan 29. Mol Genet Metab. 2015. PMID: 25649058 Free PMC article. Review.
The latest on leukodystrophies.
Schiffmann R, van der Knaap MS. Schiffmann R, et al. Among authors: van der knaap ms. Curr Opin Neurol. 2004 Apr;17(2):187-92. doi: 10.1097/00019052-200404000-00017. Curr Opin Neurol. 2004. PMID: 15021247 Review.
Propensity for paternal inheritance of de novo mutations in Alexander disease.
Li R, Johnson AB, Salomons GS, van der Knaap MS, Rodriguez D, Boespflug-Tanguy O, Gorospe JR, Goldman JE, Messing A, Brenner M. Li R, et al. Among authors: van der knaap ms. Hum Genet. 2006 Mar;119(1-2):137-44. doi: 10.1007/s00439-005-0116-7. Epub 2005 Dec 20. Hum Genet. 2006. PMID: 16365765
Cerebellar leukoencephalopathy: most likely histiocytosis-related.
van der Knaap MS, Arts WF, Garbern JY, Hedlund G, Winkler F, Barbosa C, King MD, Bjørnstad A, Hussain N, Beyer MK, Gomez C, Patterson MC, Grattan-Smith P, Timmons M, van der Valk P. van der Knaap MS, et al. Among authors: van der valk p. Neurology. 2008 Oct 21;71(17):1361-7. doi: 10.1212/01.wnl.0000327680.74910.93. Neurology. 2008. PMID: 18936429
AGC1 deficiency and cerebral hypomyelination.
Wolf NI, van der Knaap MS. Wolf NI, et al. Among authors: van der knaap ms. N Engl J Med. 2009 Nov 12;361(20):1997-8; author reply 1998. doi: 10.1056/NEJMc091723. N Engl J Med. 2009. PMID: 19907050 No abstract available.
466 results