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Results: 1 to 20 of 97

1.

Whole-genome sequencing for optimized patient management.

Bainbridge MN, Wiszniewski W, Murdock DR, Friedman J, Gonzaga-Jauregui C, Newsham I, Reid JG, Fink JK, Morgan MB, Gingras MC, Muzny DM, Hoang LD, Yousaf S, Lupski JR, Gibbs RA.

Sci Transl Med. 2011 Jun 15;3(87):87re3. doi: 10.1126/scitranslmed.3002243.

PMID:
21677200
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

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
[PubMed - indexed for MEDLINE]
Free Article
3.

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

Furukawa Y.

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

PMID:
16541791
[PubMed - indexed for MEDLINE]
4.

[Dopa-responsive dystonia (Segawa syndrome) with secondary skeleton deformity].

Budrewicz SP, Góral M, Koszewicz M, Tarantowicz P, Podemski R.

Wiad Lek. 2006;59(9-10):713-5. Polish.

PMID:
17338136
[PubMed - indexed for MEDLINE]
5.

Mutation in intron 5 of GTP cyclohydrolase 1 gene causes dopa-responsive dystonia (Segawa syndrome) in a Brazilian family.

Souza CP, Valadares ER, Trindade AL, Rocha VL, Oliveira LR, Godard AL.

Genet Mol Res. 2008 Aug 5;7(3):687-94.

PMID:
18752196
[PubMed - indexed for MEDLINE]
Free Article
6.

A novel missense mutation of the GTP cyclohydrolase I gene in a Korean family with hereditary progressive dystonia/dopa-responsive dystonia.

Kang JH, Kang SY, Kang HK, Koh YS, Im JH, Lee MC.

Brain Dev. 2004 Aug;26(5):287-91.

PMID:
15165667
[PubMed - indexed for MEDLINE]
7.

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
[PubMed - indexed for MEDLINE]
8.

[Dopa-responsive dystonia--a hereditary dystonia easy to treat].

Farbu E, Bindoff LA.

Tidsskr Nor Laegeforen. 2002 Feb 10;122(4):379-81. Norwegian.

PMID:
11915666
[PubMed - indexed for MEDLINE]
Free Article
9.

Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia.

Abeling NG, Duran M, Bakker HD, Stroomer L, Thöny B, Blau N, Booij J, Poll-The BT.

Mol Genet Metab. 2006 Sep-Oct;89(1-2):116-20. Epub 2006 May 2.

PMID:
16650784
[PubMed - indexed for MEDLINE]
10.

Heterozygous mutation in 5'-untranslated region of sepiapterin reductase gene (SPR) in a patient with dopa-responsive dystonia.

Steinberger D, Blau N, Goriuonov D, Bitsch J, Zuker M, Hummel S, Müller U.

Neurogenetics. 2004 Sep;5(3):187-90. Epub 2004 Jul 6.

PMID:
15241655
[PubMed - indexed for MEDLINE]
11.

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.

PMID:
21935284
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Phenotypic heterogeneity of dopa-responsive dystonia in monozygotic twins.

Grötzsch H, Schnorf H, Morris MA, Moix I, Horvath J, Prilipko O, Burkhard PR.

Neurology. 2004 Feb 24;62(4):637-9.

PMID:
14981186
[PubMed - indexed for MEDLINE]
13.

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.

PMID:
9576537
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Broadening the phenotype of childhood-onset dopa-responsive dystonia.

Chaila EC, McCabe DJ, Delanty N, Costello DJ, Murphy RP.

Arch Neurol. 2006 Aug;63(8):1185-8.

PMID:
16908750
[PubMed - indexed for MEDLINE]
15.

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
[PubMed - indexed for MEDLINE]
16.

Response to levodopa treatment in dopa-responsive dystonia.

Nutt JG, Nygaard TG.

Arch Neurol. 2001 Jun;58(6):905-10.

PMID:
11405805
[PubMed - indexed for MEDLINE]
17.

VMAT2 binding is elevated in dopa-responsive dystonia: visualizing empty vesicles by PET.

De La Fuente-Fernández R, Furtado S, Guttman M, Furukawa Y, Lee CS, Calne DB, Ruth TJ, Stoessl AJ.

Synapse. 2003 Jul;49(1):20-8.

PMID:
12710012
[PubMed - indexed for MEDLINE]
18.

Segawa disease with a novel heterozygous mutation in exon 5 of the GCH-1 gene (E183K).

Ikeda T, Kanmura K, Kodama Y, Sawada K, Nunoi H, Hasegawa K.

Brain Dev. 2009 Feb;31(2):173-5. doi: 10.1016/j.braindev.2008.05.012. Epub 2008 Jul 14.

PMID:
18621497
[PubMed - indexed for MEDLINE]
19.

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
[PubMed - indexed for MEDLINE]
20.

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
[PubMed - indexed for MEDLINE]

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