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Results: 1 to 20 of 160

1.

Sepiapterin reductase deficiency: a congenital dopa-responsive motor and cognitive disorder.

Neville BG, Parascandalo R, Farrugia R, Felice A.

Brain. 2005 Oct;128(Pt 10):2291-6. Epub 2005 Jul 27.

PMID:
16049044
[PubMed - indexed for MEDLINE]
Free 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.

Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy.

Friedman J, Roze E, Abdenur JE, Chang R, Gasperini S, Saletti V, Wali GM, Eiroa H, Neville B, Felice A, Parascandalo R, Zafeiriou DI, Arrabal-Fernandez L, Dill P, Eichler FS, Echenne B, Gutierrez-Solana LG, Hoffmann GF, Hyland K, Kusmierska K, Tijssen MA, Lutz T, Mazzuca M, Penzien J, Poll-The BT, Sykut-Cegielska J, Szymanska K, Thöny B, Blau N.

Ann Neurol. 2012 Apr;71(4):520-30. doi: 10.1002/ana.22685.

PMID:
22522443
[PubMed - indexed for MEDLINE]
4.

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]
5.

Dopa-responsive hypersomnia and mixed movement disorder due to sepiapterin reductase deficiency.

Friedman J, Hyland K, Blau N, MacCollin M.

Neurology. 2006 Dec 12;67(11):2032-5.

PMID:
17159114
[PubMed - indexed for MEDLINE]
6.

Misdiagnoses in children with dopa-responsive dystonia.

Jan MM.

Pediatr Neurol. 2004 Oct;31(4):298-303. Review.

PMID:
15464646
[PubMed - indexed for MEDLINE]
7.

Segawa's disease: dopa-responsive dystonia.

Gordon N.

Int J Clin Pract. 2008 Jun;62(6):943-6. Epub 2007 Oct 29. Review.

PMID:
17971156
[PubMed - indexed for MEDLINE]
8.

Child neurology: paroxysmal stiffening, upward gaze, and hypotonia: hallmarks of sepiapterin reductase deficiency.

Dill P, Wagner M, Somerville A, Thöny B, Blau N, Weber P.

Neurology. 2012 Jan 31;78(5):e29-32. doi: 10.1212/WNL.0b013e3182452849. No abstract available.

PMID:
22291068
[PubMed - indexed for MEDLINE]
9.

Molecular genetics of tetrahydrobiopterin (BH4) deficiency in the Maltese population.

Farrugia R, Scerri CA, Montalto SA, Parascandolo R, Neville BG, Felice AE.

Mol Genet Metab. 2007 Mar;90(3):277-83. Epub 2006 Dec 22.

PMID:
17188538
[PubMed - indexed for MEDLINE]
10.

Dopa-responsive dystonia (Segawa syndrome).

Kamal N, Bhat DP, Carrick E.

Indian Pediatr. 2006 Jul;43(7):635-8.

PMID:
16891685
[PubMed - indexed for MEDLINE]
Free Article
11.

A novel missense mutation pattern of the GCH1 gene in dopa-responsive dystonia.

Scola RH, Carducci C, Amaral VG, Lorenzoni PJ, Teive HA, Giovanniello T, Werneck LC.

Arq Neuropsiquiatr. 2007 Dec;65(4B):1224-7.

PMID:
18345435
[PubMed - indexed for MEDLINE]
Free Article
12.

Autosomal-dominant guanosine triphosphate cyclohydrolase I deficiency with novel mutations.

Yum MS, Ko TS, Yoo HW, Chung SJ.

Pediatr Neurol. 2008 May;38(5):367-9. doi: 10.1016/j.pediatrneurol.2008.01.012.

PMID:
18410856
[PubMed - indexed for MEDLINE]
13.

Atypical presentation of dopa-responsive dystonia: generalized hypotonia and proximal weakness.

Kong CK, Ko CH, Tong SF, Lam CW.

Neurology. 2001 Sep 25;57(6):1121-4.

PMID:
11571350
[PubMed - indexed for MEDLINE]
14.

Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia.

Hoffmann GF, Assmann B, Bräutigam C, Dionisi-Vici C, Häussler M, de Klerk JB, Naumann M, Steenbergen-Spanjers GC, Strassburg HM, Wevers RA.

Ann Neurol. 2003;54 Suppl 6:S56-65.

PMID:
12891655
[PubMed - indexed for MEDLINE]
15.

[A form of dopa-responsive dystonia of late onset with diurnal fluctuations].

Maruta K, Okamoto S, Takegami T.

Rinsho Shinkeigaku. 1993 Mar;33(3):341-3. Japanese.

PMID:
8334800
[PubMed - indexed for MEDLINE]
16.

Familial dopa-responsive cervical dystonia.

Schneider SA, Mohire MD, Trender-Gerhard I, Asmus F, Sweeney M, Davis M, Gasser T, Wood NW, Bhatia KP.

Neurology. 2006 Feb 28;66(4):599-601.

PMID:
16505323
[PubMed - indexed for MEDLINE]
17.

[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]
18.

Dopa-responsive dystonia.

Nygaard TG, Marsden CD, Duvoisin RC.

Adv Neurol. 1988;50:377-84. Review.

PMID:
3041760
[PubMed - indexed for MEDLINE]
19.

[Experience with L-DOPA treatment of children with dystonia musculorum deformans and dystonic hyperkineses in infantile cerebral palsy].

Bondarenko ES, Malyshev IuI.

Zh Nevropatol Psikhiatr Im S S Korsakova. 1985;85(10):1471-5. Russian.

PMID:
4072505
[PubMed - indexed for MEDLINE]
20.

A rare case with diurnal fluctuation of head instability, hypotonia and choreoathetotic movements improved by L-dopa treatment.

Yoshikawa H, Araki K, Sakuragawa N, Arima M.

Brain Dev. 1991;13(1):55-8.

PMID:
2064000
[PubMed - indexed for MEDLINE]

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