van der Knaap MS - Search Results

1

Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy.

van der Knaap MS, Bugiani M, Mendes MI, Riley LG, Smith DEC, Rudinger-Thirion J, Frugier M, Breur M, Crawford J, van Gaalen J, Schouten M, Willems M, Waisfisz Q, Mau-Them FT, Rodenburg RJ, Taft RJ, Keren B, Christodoulou J, Depienne C, Simons C, Salomons GS, Mochel F. van der Knaap MS, et al. Among authors: van gaalen j. Neurology. 2019 Mar 12;92(11):e1225-e1237. doi: 10.1212/WNL.0000000000007098. Epub 2019 Feb 8. Neurology. 2019. PMID: 30737337 Free PMC article.

2

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.

3

Phenotypic variation in leukoencephalopathy with vanishing white matter.

van der Knaap MS, Kamphorst W, Barth PG, Kraaijeveld CL, Gut E, Valk J. van der Knaap MS, et al. Neurology. 1998 Aug;51(2):540-7. doi: 10.1212/wnl.51.2.540. Neurology. 1998. PMID: 9710032 Clinical Trial.

4

Transaldolase deficiency: liver cirrhosis associated with a new inborn error in the pentose phosphate pathway.

Verhoeven NM, Huck JH, Roos B, Struys EA, Salomons GS, Douwes AC, van der Knaap MS, Jakobs C. Verhoeven NM, et al. Among authors: van der knaap ms. Am J Hum Genet. 2001 May;68(5):1086-92. doi: 10.1086/320108. Epub 2001 Mar 27. Am J Hum Genet. 2001. PMID: 11283793 Free PMC article.

5

A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate.

van der Knaap MS, van der Voorn P, Barkhof F, Van Coster R, Krägeloh-Mann I, Feigenbaum A, Blaser S, Vles JS, Rieckmann P, Pouwels PJ. van der Knaap MS, et al. Among authors: van der voorn p, van coster r. Ann Neurol. 2003 Feb;53(2):252-8. doi: 10.1002/ana.10456. Ann Neurol. 2003. PMID: 12557294

6

Enzyme assay for diagnosis of guanidinoacetate methyltransferase deficiency.

Verhoeven NM, Roos B, Struys EA, Salomons GS, van der Knaap MS, Jakobs C. Verhoeven NM, et al. Among authors: van der knaap ms. Clin Chem. 2004 Feb;50(2):441-3. doi: 10.1373/clinchem.2003.022764. Clin Chem. 2004. PMID: 14752017 No abstract available.

7

Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy.

Huck JH, Verhoeven NM, Struys EA, Salomons GS, Jakobs C, van der Knaap MS. Huck JH, et al. Among authors: van der knaap ms. Am J Hum Genet. 2004 Apr;74(4):745-51. doi: 10.1086/383204. Epub 2004 Feb 25. Am J Hum Genet. 2004. PMID: 14988808 Free PMC article.

8

Severe hypomyelination associated with increased levels of N-acetylaspartylglutamate in CSF.

Wolf NI, Willemsen MA, Engelke UF, van der Knaap MS, Pouwels PJ, Harting I, Zschocke J, Sistermans EA, Rating D, Wevers RA. Wolf NI, et al. Among authors: van der knaap ms. Neurology. 2004 May 11;62(9):1503-8. doi: 10.1212/01.wnl.0000123094.13406.20. Neurology. 2004. PMID: 15136672

9

Arg113His mutation in eIF2Bepsilon as cause of leukoencephalopathy in adults.

van der Knaap MS, Leegwater PA, van Berkel CG, Brenner C, Storey E, Di Rocco M, Salvi F, Pronk JC. van der Knaap MS, et al. Among authors: van berkel cg. Neurology. 2004 May 11;62(9):1598-600. doi: 10.1212/01.wnl.0000123118.86746.fc. Neurology. 2004. PMID: 15136689

10

Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families.

Mancini GM, Catsman-Berrevoets CE, de Coo IF, Aarsen FK, Kamphoven JH, Huijmans JG, Duran M, van der Knaap MS, Jakobs C, Salomons GS. Mancini GM, et al. Among authors: van der knaap ms. Am J Med Genet A. 2005 Jan 30;132A(3):288-95. doi: 10.1002/ajmg.a.30473. Am J Med Genet A. 2005. PMID: 15690373

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