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474 results

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MRI of a family with leukoencephalypathy with vanishing white matter.
Jurkiewicz E, Mierzewska H, Bekiesińska-Figatowska M, Pakua-Kościesza I, Kmieć T, Scheper G, van der Knaap MS, Pronicka E. Jurkiewicz E, et al. Among authors: van der knaap ms. Pediatr Radiol. 2005 Oct;35(10):1027-30. doi: 10.1007/s00247-005-1498-3. Epub 2005 May 24. Pediatr Radiol. 2005. PMID: 15912409
MLC1 is associated with the dystrophin-glycoprotein complex at astrocytic endfeet.
Boor I, Nagtegaal M, Kamphorst W, van der Valk P, Pronk JC, van Horssen J, Dinopoulos A, Bove KE, Pascual-Castroviejo I, Muntoni F, Estévez R, Scheper GC, van der Knaap MS. Boor I, et al. Among authors: van der valk p, van der knaap ms, van horssen j. Acta Neuropathol. 2007 Oct;114(4):403-10. doi: 10.1007/s00401-007-0247-0. Epub 2007 Jul 13. Acta Neuropathol. 2007. PMID: 17628813 Free PMC article.
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.
Wolf NI, Vanderver A, van Spaendonk RM, Schiffmann R, Brais B, Bugiani M, Sistermans E, Catsman-Berrevoets C, Kros JM, Pinto PS, Pohl D, Tirupathi S, Strømme P, de Grauw T, Fribourg S, Demos M, Pizzino A, Naidu S, Guerrero K, van der Knaap MS, Bernard G; 4H Research Group. Wolf NI, et al. Among authors: van spaendonk rm, van der knaap ms. Neurology. 2014 Nov 18;83(21):1898-905. doi: 10.1212/WNL.0000000000001002. Epub 2014 Oct 22. Neurology. 2014. PMID: 25339210 Free PMC article.
Eight novel mutations in MLC1 from 18 Iranian patients with megalencephalic leukoencephalopathy with subcortical cysts.
Kariminejad A, Rajaee A, Ashrafi MR, Alizadeh H, Tonekaboni SH, Malamiri RA, Ghofrani M, Karimzadeh P, Mohammadi MM, Baghalshooshtari A, Bozorgmehr B, Kariminejad MH, Postma N, Abbink TE, van der Knaap MS. Kariminejad A, et al. Among authors: van der knaap ms. Eur J Med Genet. 2015 Feb;58(2):71-4. doi: 10.1016/j.ejmg.2014.12.004. Epub 2014 Dec 11. Eur J Med Genet. 2015. PMID: 25497041
Megalencephalic leukoencephalopathy with subcortical cysts: Characterization of disease variants.
Hamilton EMC, Tekturk P, Cialdella F, van Rappard DF, Wolf NI, Yalcinkaya C, Çetinçelik Ü, Rajaee A, Kariminejad A, Paprocka J, Yapici Z, Bošnjak VM, van der Knaap MS; MLC Research Group. Hamilton EMC, et al. Among authors: van der knaap ms, van rappard df. Neurology. 2018 Apr 17;90(16):e1395-e1403. doi: 10.1212/WNL.0000000000005334. Epub 2018 Mar 21. Neurology. 2018. PMID: 29661901 Free PMC article.
474 results