Steenbergen-Spanjers GC - Search Results

1

Four novel mutations in the tyrosine hydroxylase gene in patients with infantile parkinsonism.

Swaans RJ, Rondot P, Renier WO, Van Den Heuvel LP, Steenbergen-Spanjers GC, Wevers RA. Swaans RJ, et al. Among authors: steenbergen spanjers gc. Ann Hum Genet. 2000 Jan;64(Pt 1):25-31. doi: 10.1017/S0003480000007922. Ann Hum Genet. 2000. PMID: 11246459

2

Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene.

Verbeek MM, Steenbergen-Spanjers GC, Willemsen MA, Hol FA, Smeitink J, Seeger J, Grattan-Smith P, Ryan MM, Hoffmann GF, Donati MA, Blau N, Wevers RA. Verbeek MM, et al. Among authors: steenbergen spanjers gc. Ann Neurol. 2007 Oct;62(4):422-6. doi: 10.1002/ana.21199. Ann Neurol. 2007. PMID: 17696123

3

Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis.

Willemsen MA, Verbeek MM, Kamsteeg EJ, de Rijk-van Andel JF, Aeby A, Blau N, Burlina A, Donati MA, Geurtz B, Grattan-Smith PJ, Haeussler M, Hoffmann GF, Jung H, de Klerk JB, van der Knaap MS, Kok F, Leuzzi V, de Lonlay P, Megarbane A, Monaghan H, Renier WO, Rondot P, Ryan MM, Seeger J, Smeitink JA, Steenbergen-Spanjers GC, Wassmer E, Weschke B, Wijburg FA, Wilcken B, Zafeiriou DI, Wevers RA. Willemsen MA, et al. Among authors: steenbergen spanjers gc. Brain. 2010 Jun;133(Pt 6):1810-22. doi: 10.1093/brain/awq087. Epub 2010 Apr 29. Brain. 2010. PMID: 20430833 Free article.

4

Metachromatic leukodystrophy: a 12-bp deletion in exon 2 of the arylsulfatase A gene in a late infantile variant.

Luyten JA, Wenink PW, Steenbergen-Spanjers GC, Wevers RA, Ploos van Amstel HK, de Jong JG, van den Heuvel LP. Luyten JA, et al. Hum Genet. 1995 Sep;96(3):357-60. doi: 10.1007/BF00210424. Hum Genet. 1995. PMID: 7649558 Free article.

5

Two new mutations in the sterol 27-hydroxylase gene in two families lead to cerebrotendinous xanthomatosis.

Verrips A, Steenbergen-Spanjers GC, Luyten JA, van den Heuvel LP, Keyser A, Gabreëls FJ, Wevers RA. Verrips A, et al. Hum Genet. 1996 Dec;98(6):735-7. doi: 10.1007/s004390050294. Hum Genet. 1996. PMID: 8931710

6

Exon skipping in the sterol 27-hydroxylase gene leads to cerebrotendinous xanthomatosis.

Verrips A, Steenbergen-Spanjers GC, Luyten JA, Wevers RA, Wokke JH, Gabreëls FJ, Wolthers BG, van den Heuvel LP. Verrips A, et al. Hum Genet. 1997 Aug;100(2):284-6. doi: 10.1007/s004390050506. Hum Genet. 1997. PMID: 9254865

7

A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population.

van den Heuvel LP, Luiten B, Smeitink JA, de Rijk-van Andel JF, Hyland K, Steenbergen-Spanjers GC, Janssen RJ, Wevers RA. van den Heuvel LP, et al. Hum Genet. 1998 Jun;102(6):644-6. doi: 10.1007/s004390050756. Hum Genet. 1998. PMID: 9703425

8

A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC).

Wevers RA, de Rijk-van Andel JF, Bräutigam C, Geurtz B, van den Heuvel LP, Steenbergen-Spanjers GC, Smeitink JA, Hoffmann GF, Gabreëls FJ. Wevers RA, et al. J Inherit Metab Dis. 1999 Jun;22(4):364-73. doi: 10.1023/a:1005539803576. J Inherit Metab Dis. 1999. PMID: 10407773 Review.

9

L-dopa-responsive infantile hypokinetic rigid parkinsonism due to tyrosine hydroxylase deficiency.

de Rijk-Van Andel JF, Gabreëls FJ, Geurtz B, Steenbergen-Spanjers GC, van Den Heuvel LP, Smeitink JA, Wevers RA. de Rijk-Van Andel JF, et al. Among authors: steenbergen spanjers gc. Neurology. 2000 Dec 26;55(12):1926-8. doi: 10.1212/wnl.55.12.1926. Neurology. 2000. PMID: 11134401

10

A branch site mutation leading to aberrant splicing of the human tyrosine hydroxylase gene in a child with a severe extrapyramidal movement disorder.

Janssen RJ, Wevers RA, Häussler M, Luyten JA, Steenbergen-Spanjers GC, Hoffmann GF, Nagatsu T, Van den Heuvel LP. Janssen RJ, et al. Among authors: steenbergen spanjers gc. Ann Hum Genet. 2000 Sep;64(Pt 5):375-82. doi: 10.1046/j.1469-1809.2000.6450375.x. Ann Hum Genet. 2000. PMID: 11281275

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