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Diffuse hypomyelination is not obligate for POLR3-related disorders.
La Piana R, Cayami FK, Tran LT, Guerrero K, van Spaendonk R, Õunap K, Pajusalu S, Haack T, Wassmer E, Timmann D, Mierzewska H, Poll-Thé BT, Patel C, Cox H, Atik T, Onay H, Ozkınay F, Vanderver A, van der Knaap MS, Wolf NI, Bernard G. La Piana R, et al. Among authors: van spaendonk r, van der knaap ms. Neurology. 2016 Apr 26;86(17):1622-6. doi: 10.1212/WNL.0000000000002612. Epub 2016 Mar 30. Neurology. 2016. PMID: 27029625 Free PMC article.
The MR spectrum of peroxisomal disorders.
van der Knaap MS, Valk J. van der Knaap MS, et al. Neuroradiology. 1991;33(1):30-7. doi: 10.1007/BF00593330. Neuroradiology. 1991. PMID: 2027442
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.
D-2-Hydroxyglutaric aciduria: biochemical marker or clinical disease entity?
van der Knaap MS, Jakobs C, Hoffmann GF, Nyhan WL, Renier WO, Smeitink JA, Catsman-Berrevoets CE, Hjalmarson O, Vallance H, Sugita K, Bowe CM, Herrin JT, Craigen WJ, Buist NR, Brookfield DS, Chalmers RA. van der Knaap MS, et al. Ann Neurol. 1999 Jan;45(1):111-9. doi: 10.1002/1531-8249(199901)45:1<111::aid-art17>3.0.co;2-n. Ann Neurol. 1999. PMID: 9894884
White matter disorders.
Valk J, van der Knaap MS. Valk J, et al. Among authors: van der knaap ms. Curr Opin Neurol Neurosurg. 1991 Dec;4(6):843-51. Curr Opin Neurol Neurosurg. 1991. PMID: 10146206 Review.
465 results