Similar articles for PMID: 16361586

Year	Number of Results
1993	1
1994	2
1995	2
1996	4
1997	6
1998	10
1999	10
2000	5
2001	4
2002	4
2003	3
2004	6
2005	3
2006	6
2007	5
2008	6
2009	4
2010	4
2011	6
2012	2
2013	2
2014	3
2015	3
2016	1
2017	5
2018	2
2019	3
2020	1
2021	1
2022	1
2024	0

1

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. 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.

2

Neuropsychiatric and sleep study in autosomal dominant dopa-responsive dystonia.

Alves Júnior AC, Daker MV, Machado AMC, Luna AS, Valladares Neto DC, Valadares ER. Alves Júnior AC, et al. Mol Genet Metab Rep. 2022 Apr 18;31:100870. doi: 10.1016/j.ymgmr.2022.100870. eCollection 2022 Jun. Mol Genet Metab Rep. 2022. PMID: 35782624 Free PMC article.

3

Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome.

Leuzzi V, Carducci C, Carducci C, Cardona F, Artiola C, Antonozzi I. Leuzzi V, et al. Neurology. 2002 Oct 22;59(8):1241-3. doi: 10.1212/wnl.59.8.1241. Neurology. 2002. PMID: 12391354

4

Familial paroxysmal exercise-induced dystonia: atypical presentation of autosomal dominant GTP-cyclohydrolase 1 deficiency.

Dale RC, Melchers A, Fung VS, Grattan-Smith P, Houlden H, Earl J. Dale RC, et al. Dev Med Child Neurol. 2010 Jun;52(6):583-6. doi: 10.1111/j.1469-8749.2010.03619.x. Epub 2010 Feb 19. Dev Med Child Neurol. 2010. PMID: 20187889 Free article.

5

A novel nonsense mutation of the GTP cyclohydrolase I gene in a family with dopa-responsive dystonia.

Hong KM, Kim YS, Paik MK. Hong KM, et al. Hum Hered. 2001;52(1):59-60. doi: 10.1159/000053355. Hum Hered. 2001. PMID: 11359069

6

New nonsense mutation in the GTP-cyclohydrolase I gene in L-DOPA responsive dystonia-parkinsonism.

Hoenicka J, Vidal L, Godoy M, Ochoa JJ, García de Yébenes J. Hoenicka J, et al. Mov Disord. 2001 Mar;16(2):364-6. doi: 10.1002/mds.1044. Mov Disord. 2001. PMID: 11295799 No abstract available.

7

Autosomal dominant GTP cyclohydrolase I (AD GCH 1) deficiency (Segawa disease, dystonia 5; DYT 5).

Segawa M. Segawa M. Chang Gung Med J. 2009 Jan-Feb;32(1):1-11. Chang Gung Med J. 2009. PMID: 19292934 Free article. Review.

8

GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia.

Furukawa Y. Furukawa Y. 2002 Feb 21 [updated 2019 Jan 24]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2002 Feb 21 [updated 2019 Jan 24]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301681 Free Books & Documents. Review.

9

Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations?

Tassin J, Dürr A, Bonnet AM, Gil R, Vidailhet M, Lücking CB, Goas JY, Durif F, Abada M, Echenne B, Motte J, Lagueny A, Lacomblez L, Jedynak P, Bartholomé B, Agid Y, Brice A. Tassin J, et al. Brain. 2000 Jun;123 ( Pt 6):1112-21. doi: 10.1093/brain/123.6.1112. Brain. 2000. PMID: 10825351

10

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. 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

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