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Results: 1 to 20 of 40

1.

Genetics in dystonia.

Klein C.

Parkinsonism Relat Disord. 2014 Jan;20 Suppl 1:S137-42. doi: 10.1016/S1353-8020(13)70033-6. Review.

PMID:
24262166
[PubMed - indexed for MEDLINE]
2.

Dopa-responsive dystonia: functional analysis of single nucleotide substitutions within the 5' untranslated GCH1 region.

Armata IA, Balaj L, Kuster JK, Zhang X, Tsai S, Armatas AA, Multhaupt-Buell TJ, Soberman R, Breakefield XO, Ichinose H, Sharma N.

PLoS One. 2013 Oct 4;8(10):e76975. doi: 10.1371/journal.pone.0076975. eCollection 2013.

PMID:
24124602
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Brief case report: dopa-responsive dystonia.

Heidenreich WF.

J Insur Med. 2013;43(4):244-6.

PMID:
24069785
[PubMed - indexed for MEDLINE]
4.

GTP cyclohydrolase regulation: implications for brain development and function.

Ichinose H, Homma D, Sumi-Ichinose C, Nomura T, Kondo K.

Adv Pharmacol. 2013;68:23-35. doi: 10.1016/B978-0-12-411512-5.00003-8. Review.

PMID:
24054139
[PubMed - indexed for MEDLINE]
5.

Ataxia telangiectasia presenting as dopa-responsive cervical dystonia.

Charlesworth G, Mohire MD, Schneider SA, Stamelou M, Wood NW, Bhatia KP.

Neurology. 2013 Sep 24;81(13):1148-51. doi: 10.1212/WNL.0b013e3182a55fa2. Epub 2013 Aug 14.

PMID:
23946315
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

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.

PMID:
23762320
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Progressive dystonia.

Klein C, Münchau A.

Handb Clin Neurol. 2013;113:1889-97. doi: 10.1016/B978-0-444-59565-2.00059-9. Review.

PMID:
23622412
[PubMed - indexed for MEDLINE]
8.

Monoamine neurotransmitter deficiencies.

Pearl PL.

Handb Clin Neurol. 2013;113:1819-25. doi: 10.1016/B978-0-444-59565-2.00051-4. Review.

PMID:
23622404
[PubMed - indexed for MEDLINE]
9.

Dopa-responsive dystonia is caused by particular impairment of nigrostriatal dopamine neurons different from those involved in Parkinson disease: evidence observed in studies on Segawa disease.

Segawa M, Nomura Y, Hayashi M.

Neuropediatrics. 2013 Mar;44(2):61-6. doi: 10.1055/s-0033-1337337. Epub 2013 Mar 6.

PMID:
23468278
[PubMed - indexed for MEDLINE]
10.

Pitfalls in phenylalanine loading test in the diagnosis of dopa-responsive dystonia.

Opladen T, Hoffmann GF, Kühn AA, Blau N.

Mol Genet Metab. 2013 Mar;108(3):195-7. doi: 10.1016/j.ymgme.2013.01.001. Epub 2013 Jan 12.

PMID:
23375473
[PubMed - indexed for MEDLINE]
11.

Metabolic changes in DYT11 myoclonus-dystonia.

Carbon M, Raymond D, Ozelius L, Saunders-Pullman R, Frucht S, Dhawan V, Bressman S, Eidelberg D.

Neurology. 2013 Jan 22;80(4):385-91. doi: 10.1212/WNL.0b013e31827f0798. Epub 2013 Jan 2.

PMID:
23284065
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Two novel mutations of the GTP cyclohydrolase 1 gene and genotype-phenotype correlation in Chinese Dopa-responsive dystonia patients.

Yu L, Zhou H, Hu F, Xu Y.

Eur J Hum Genet. 2013 Jul;21(7):731-5. doi: 10.1038/ejhg.2012.239. Epub 2012 Dec 5.

PMID:
23211702
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Guanosine triphosphate cyclohydrolase 1 promoter deletion causes dopa-responsive dystonia.

Theuns J, Crosiers D, Debaene L, Nuytemans K, Meeus B, Sleegers K, Goossens D, Corsmit E, Elinck E, Peeters K, Mattheijssens M, Pickut B, Del-Favero J, Engelborghs S, De Deyn PP, Cras P, Van Broeckhoven C.

Mov Disord. 2012 Sep 15;27(11):1451-6. doi: 10.1002/mds.25147. Epub 2012 Sep 13.

PMID:
22976901
[PubMed - indexed for MEDLINE]
14.

Dopamine transporter imaging (123)I-FP-CIT (DaTSCAN) SPET in differential diagnosis of dopa-responsive dystonia and young-onset Parkinson's disease.

Brajkovic LD, Svetel MV, Kostic VS, Sobic-Saranovic DP, Pavlovic SV, Artiko VM, Obradovic VB.

Hell J Nucl Med. 2012 May-Aug;15(2):134-8.

PMID:
22833860
[PubMed - indexed for MEDLINE]
15.

Phenotypic heterogeneity and full penetrance in a family with dopa-responsive dystonia.

Karkheiran S, Hubert B, Moghaddam H, Darvish H, Paisán-Ruiz C.

Clin Genet. 2013 Apr;83(4):392-4. doi: 10.1111/j.1399-0004.2012.01915.x. Epub 2012 Jul 9. No abstract available.

PMID:
22775298
[PubMed - indexed for MEDLINE]
16.

Dyskinesias as a limiting factor in the treatment of Segawa disease.

López-Laso E, Beyer K, Opladen T, Artuch R, Saunders-Pullman R.

Pediatr Neurol. 2012 Jun;46(6):404-6. doi: 10.1016/j.pediatrneurol.2012.03.003.

PMID:
22633640
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Occurrence of GCH1 gene mutations in a group of Indian dystonia patients.

Naiya T, Misra AK, Biswas A, Das SK, Ray K, Ray J.

J Neural Transm. 2012 Nov;119(11):1343-50. doi: 10.1007/s00702-012-0777-z. Epub 2012 Feb 29.

PMID:
22373569
[PubMed - indexed for MEDLINE]
18.

Guanine triphosphate-cyclohydrolase 1-deficient dopa-responsive dystonia presenting as frequent falling in 2 children.

Tsao CY.

J Child Neurol. 2012 Mar;27(3):389-91. doi: 10.1177/0883073811420871. Epub 2011 Nov 8. Review.

PMID:
22068827
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Are Dopa-responsive dystonia and Parkinson's disease related disorders? A case report.

Eggers C, Volk AE, Kahraman D, Fink GR, Leube B, Schmidt M, Timmermann L.

Parkinsonism Relat Disord. 2012 Jun;18(5):666-8. doi: 10.1016/j.parkreldis.2011.10.003. Epub 2011 Oct 24.

PMID:
22030322
[PubMed - indexed for MEDLINE]
20.

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

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