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Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.
Hamilton EM, Polder E, Vanderver A, Naidu S, Schiffmann R, Fisher K, Raguž AB, Blumkin L; H-ABC Research Group; van Berkel CG, Waisfisz Q, Simons C, Taft RJ, Abbink TE, Wolf NI, van der Knaap MS. Hamilton EM, et al. Among authors: van berkel cg, van der knaap ms. Brain. 2014 Jul;137(Pt 7):1921-30. doi: 10.1093/brain/awu110. Epub 2014 Apr 30. Brain. 2014. PMID: 24785942 Free PMC article.
A new leukoencephalopathy with vanishing white matter.
van der Knaap MS, Barth PG, Gabreëls FJ, Franzoni E, Begeer JH, Stroink H, Rotteveel JJ, Valk J. van der Knaap MS, et al. Neurology. 1997 Apr;48(4):845-55. doi: 10.1212/wnl.48.4.845. Neurology. 1997. PMID: 9109866 Free article.
Alexander disease: diagnosis with MR imaging.
van der Knaap MS, Naidu S, Breiter SN, Blaser S, Stroink H, Springer S, Begeer JC, van Coster R, Barth PG, Thomas NH, Valk J, Powers JM. van der Knaap MS, et al. Among authors: van coster r. AJNR Am J Neuroradiol. 2001 Mar;22(3):541-52. AJNR Am J Neuroradiol. 2001. PMID: 11237983 Free PMC article.
Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter.
Leegwater PA, Vermeulen G, Könst AA, Naidu S, Mulders J, Visser A, Kersbergen P, Mobach D, Fonds D, van Berkel CG, Lemmers RJ, Frants RR, Oudejans CB, Schutgens RB, Pronk JC, van der Knaap MS. Leegwater PA, et al. Among authors: van berkel cg, van der knaap ms. Nat Genet. 2001 Dec;29(4):383-8. doi: 10.1038/ng764. Nat Genet. 2001. PMID: 11704758
466 results