Blau N - Search Results

1

Dopa-responsive dystonia and early-onset Parkinson's disease in a patient with GTP cyclohydrolase I deficiency?

Hjermind LE, Johannsen LG, Blau N, Wevers RA, Lucking CB, Hertz JM, Friberg L, Regeur L, Nielsen JE, Sørensen SA. Hjermind LE, et al. Among authors: blau n. Mov Disord. 2006 May;21(5):679-82. doi: 10.1002/mds.20773. Mov Disord. 2006. PMID: 16267845

2

Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency.

Schiller A, Wevers RA, Steenbergen GC, Blau N, Jung HH. Schiller A, et al. Among authors: blau n. Neurology. 2004 Oct 26;63(8):1524-6. doi: 10.1212/01.wnl.0000142083.47927.0a. Neurology. 2004. PMID: 15505183

3

Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency.

Van Hove JL, Steyaert J, Matthijs G, Legius E, Theys P, Wevers R, Romstad A, Møller LB, Hedrich K, Goriounov D, Blau N, Klein C, Casaer P. Van Hove JL, et al. Among authors: blau n. J Neurol Neurosurg Psychiatry. 2006 Jan;77(1):18-23. doi: 10.1136/jnnp.2004.051664. J Neurol Neurosurg Psychiatry. 2006. PMID: 16361586 Free PMC article.

4

Think big - think omics.

Wevers RA, Blau N. Wevers RA, et al. Among authors: blau n. J Inherit Metab Dis. 2018 May;41(3):281-283. doi: 10.1007/s10545-018-0165-4. J Inherit Metab Dis. 2018. PMID: 29541953 No abstract available.

5

Two Greek siblings with sepiapterin reductase deficiency.

Verbeek MM, Willemsen MAAP, Wevers RA, Lagerwerf AJ, Abeling NGGM, Blau N, Thöny B, Vargiami E, Zafeiriou DI. Verbeek MM, et al. Among authors: blau n. Mol Genet Metab. 2008 Aug;94(4):403-409. doi: 10.1016/j.ymgme.2008.04.003. Epub 2008 May 27. Mol Genet Metab. 2008. PMID: 18502672

6

Long-term follow-up and adult outcome of 6-pyruvoyl-tetrahydropterin synthase deficiency.

Roze E, Vidailhet M, Blau N, Moller LB, Doummar D, de Villemeur TB, Roubergue A. Roze E, et al. Among authors: blau n. Mov Disord. 2006 Feb;21(2):263-6. doi: 10.1002/mds.20699. Mov Disord. 2006. PMID: 16161143

7

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: blau n. Brain. 2010 Jun;133(Pt 6):1810-22. doi: 10.1093/brain/awq087. Epub 2010 Apr 29. Brain. 2010. PMID: 20430833 Free article.

8

Neonatal dopa-responsive extrapyramidal syndrome in twins with recessive GTPCH deficiency.

Nardocci N, Zorzi G, Blau N, Fernandez Alvarez E, Sesta M, Angelini L, Pannacci M, Invernizzi F, Garavaglia B. Nardocci N, et al. Among authors: blau n. Neurology. 2003 Jan 28;60(2):335-7. doi: 10.1212/01.wnl.0000044049.99690.ad. Neurology. 2003. PMID: 12552057

9

Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: evidence of a phenotypic continuum between dominant and recessive forms.

Horvath GA, Stockler-Ipsiroglu SG, Salvarinova-Zivkovic R, Lillquist YP, Connolly M, Hyland K, Blau N, Rupar T, Waters PJ. Horvath GA, et al. Among authors: blau n. Mol Genet Metab. 2008 May;94(1):127-31. doi: 10.1016/j.ymgme.2008.01.003. Epub 2008 Feb 13. Mol Genet Metab. 2008. PMID: 18276179

10

A splice mutation in the GTP cyclohydrolase I gene causes dopa-responsive dystonia by exon skipping.

Skrygan M, Bartholomé B, Bonafé L, Blau N, Bartholomé K. Skrygan M, et al. Among authors: blau n. J Inherit Metab Dis. 2001 Jun;24(3):345-51. doi: 10.1023/a:1010544316387. J Inherit Metab Dis. 2001. PMID: 11486899

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