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Items: 1 to 20 of 216

1.

Novel GCH-1 mutations and unusual long-lasting dyskinesias in Korean families with dopa-responsive dystonia.

Lee JY, Yang HJ, Kim JM, Jeon BS.

Parkinsonism Relat Disord. 2013 Dec;19(12):1156-9. doi: 10.1016/j.parkreldis.2013.08.003. Epub 2013 Sep 7.

PMID:
24018121
2.

[Dopa-responsive dystonia: clinical, genetic, and biochemical studies].

Furukawa Y.

Rinsho Shinkeigaku. 2006 Jan;46(1):19-34. Japanese.

PMID:
16541791
3.

GCH1 mutation and clinical study of Chinese patients with dopa-responsive dystonia.

Liu X, Zhang SS, Fang DF, Ma MY, Guo XY, Yang Y, Shang HF.

Mov Disord. 2010 Mar 15;25(4):447-51. doi: 10.1002/mds.22976.

PMID:
20108370
4.

GTP cyclohydrolase I and tyrosine hydroxylase gene mutations in familial and sporadic dopa-responsive dystonia patients.

Cai C, Shi W, Zeng Z, Zhang M, Ling C, Chen L, Cai C, Zhang B, Li WD.

PLoS One. 2013 Jun 6;8(6):e65215. doi: 10.1371/journal.pone.0065215. Print 2013.

5.

A case of late-onset Segawa syndrome (autosomal dominant dopa-responsive dystonia) with a novel mutation of the GTP-cyclohydrase I (GCH1) gene.

Furuya H, Murai H, Takasugi K, Ohyagi Y, Urano F, Kishi T, Ichinose H, Kira J.

Clin Neurol Neurosurg. 2006 Dec;108(8):784-6. Epub 2005 Nov 14.

PMID:
16289769
6.

Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia.

Clot F, Grabli D, Cazeneuve C, Roze E, Castelnau P, Chabrol B, Landrieu P, Nguyen K, Ponsot G, Abada M, Doummar D, Damier P, Gil R, Thobois S, Ward AJ, Hutchinson M, Toutain A, Picard F, Camuzat A, Fedirko E, Sân C, Bouteiller D, LeGuern E, Durr A, Vidailhet M, Brice A; French Dystonia Network..

Brain. 2009 Jul;132(Pt 7):1753-63. doi: 10.1093/brain/awp084. Epub 2009 Jun 2.

PMID:
19491146
7.
8.

[Dopa-responsive dystonia].

Durić G, Svetel M, Dzoljić E, Kostić V.

Vojnosanit Pregl. 2009 Jan;66(1):29-34. Serbian.

PMID:
19195260
9.

Dopamine transporter density measured by [123I]beta-CIT single-photon emission computed tomography is normal in dopa-responsive dystonia.

Jeon BS, Jeong JM, Park SS, Kim JM, Chang YS, Song HC, Kim KM, Yoon KY, Lee MC, Lee SB.

Ann Neurol. 1998 Jun;43(6):792-800.

PMID:
9629849
10.

Clinical similarities of hereditary progressive/dopa responsive dystonia caused by different types of mutations in the GTP cyclohydrolase I gene.

Tamaru Y, Hirano M, Ito H, Kawamura J, Matsumoto S, Imai T, Ueno S.

J Neurol Neurosurg Psychiatry. 1998 Apr;64(4):469-73.

11.

Gender-related penetrance and de novo GTP-cyclohydrolase I gene mutations in dopa-responsive dystonia.

Furukawa Y, Lang AE, Trugman JM, Bird TD, Hunter A, Sadeh M, Tagawa T, St George-Hyslop PH, Guttman M, Morris LW, Hornykiewicz O, Shimadzu M, Kish SJ.

Neurology. 1998 Apr;50(4):1015-20.

PMID:
9566388
12.

Frequency of GCH1 deletions in Dopa-responsive dystonia.

Zirn B, Steinberger D, Troidl C, Brockmann K, von der Hagen M, Feiner C, Henke L, Müller U.

J Neurol Neurosurg Psychiatry. 2008 Feb;79(2):183-6. Epub 2007 Sep 26.

PMID:
17898029
13.

Four novel mutations in the GCH1 gene of Chinese patients with dopa-responsive dystonia.

Cao L, Zheng L, Tang WG, Xiao Q, Zhang T, Tang HD, He SB, Wang XJ, Ding JQ, Chen SD.

Mov Disord. 2010 Apr 30;25(6):755-60. doi: 10.1002/mds.22646.

PMID:
20437540
14.

Dopa-responsive dystonia with a novel initiation codon mutation in the GCH1 gene misdiagnosed as cerebral palsy.

Lee JH, Ki CS, Kim DS, Cho JW, Park KP, Kim S.

J Korean Med Sci. 2011 Sep;26(9):1244-6. doi: 10.3346/jkms.2011.26.9.1244. Epub 2011 Sep 1.

15.

A novel missense mutation in GTP cyclohydrolase I (GCH1) gene causes Dopa-responsive dystonia in Chinese Han population.

Hu FY, Xu YM, Yu LH, Ma MY, He XH, Zhou D.

Eur J Neurol. 2011 Feb;18(2):362-4. doi: 10.1111/j.1468-1331.2010.03082.x.

PMID:
20491893
16.

[Clinical analysis of dopa-responsive dystonia and mutation analysis of the GCH I gene].

Xie H, Wu ZY, Wang N, Li ZW, Lin MT, Murong SX.

Zhonghua Er Ke Za Zhi. 2006 Jul;44(7):492-5. Chinese.

PMID:
17044972
17.

A new mutation of GCH1 in triplets family with dopa-responsive dystonia.

Tachi N, Takahashi S, Jo M, Shinoda M.

Eur J Neurol. 2011 Sep;18(9):1191-3. doi: 10.1111/j.1468-1331.2011.03354.x. Epub 2011 Jan 31.

PMID:
21834904
18.

Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients.

Trender-Gerhard I, Sweeney MG, Schwingenschuh P, Mir P, Edwards MJ, Gerhard A, Polke JM, Hanna MG, Davis MB, Wood NW, Bhatia KP.

J Neurol Neurosurg Psychiatry. 2009 Aug;80(8):839-45. doi: 10.1136/jnnp.2008.155861. Epub 2009 Mar 29.

PMID:
19332422
19.

Dopa-responsive dystonia presenting as delayed and awkward gait.

Cheyette BN, Cheyette SN, Cusmano-Ozog K, Enns GM.

Pediatr Neurol. 2008 Apr;38(4):273-5. doi: 10.1016/j.pediatrneurol.2007.12.005.

PMID:
18358407
20.

Molecular analyses of GCH-1, TH and parkin genes in Chinese dopa-responsive dystonia families.

Wu ZY, Lin Y, Chen WJ, Zhao GX, Xie H, Murong SX, Wang N.

Clin Genet. 2008 Dec;74(6):513-21. doi: 10.1111/j.1399-0004.2008.01039.x. Epub 2008 Jun 11.

PMID:
18554280

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