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Results: 1 to 20 of 38

Select item 232840651.

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]

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Select item 229769012.

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]

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Select item 228338603.

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]

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Select item 226336404.

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]

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Select item 223735695.

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]

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Select item 220688276.

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]

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Select item 220303227.

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]

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Select item 219352848.

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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Select item 218349049.

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]

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Select item 2167462110.

Mutation in 5' upstream region of GCHI gene causes familial dopa-responsive dystonia.

Sharma N, Armata IA, Multhaupt-Buell TJ, Ozelius LJ, Xin W, Sims KB.

Mov Disord. 2011 Sep;26(11):2140-1. doi: 10.1002/mds.23786. Epub 2011 Jun 14. No abstract available.

PMID:: 21674621; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 2149660811.

Myoclonus-dystonia syndrome.

Nardocci N.

Handb Clin Neurol. 2011;100:563-75. doi: 10.1016/B978-0-444-52014-2.00041-0. Review.

PMID:: 21496608; [PubMed - indexed for MEDLINE]

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Select item 2149660612.

Dopa-responsive dystonia.

Segawa M.

Handb Clin Neurol. 2011;100:539-57. doi: 10.1016/B978-0-444-52014-2.00039-2. Review.

PMID:: 21496606; [PubMed - indexed for MEDLINE]

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Select item 2149660513.

Nonprimary dystonias.

Dressler D.

Handb Clin Neurol. 2011;100:513-38. doi: 10.1016/B978-0-444-52014-2.00038-0. Review.

PMID:: 21496605; [PubMed - indexed for MEDLINE]

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Select item 2141284214.

The association of Tourette syndrome and dopa-responsive dystonia.

Yaltho TC, Jankovic J, Lotze T.

Mov Disord. 2011 Feb 1;26(2):359-60. doi: 10.1002/mds.23424. Epub 2010 Nov 10. No abstract available.

PMID:: 21412842; [PubMed - indexed for MEDLINE]

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Select item 2128760415.

An intragenic duplication in guanosine triphosphate cyclohydrolase-1 gene in a dopa-responsive dystonia family.

Ling H, Polke JM, Sweeney MG, Haworth A, Sandford CA, Heales SJ, Wood NW, Davis MB, Lees AJ.

Mov Disord. 2011 Apr;26(5):905-9. doi: 10.1002/mds.23593. Epub 2011 Feb 1.

PMID:: 21287604; [PubMed - indexed for MEDLINE]

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Select item 2084268716.

Severe dystonic encephalopathy without hyperphenylalaninemia associated with an 18-bp deletion within the proximal GCH1 promoter.

Bodzioch M, Lapicka-Bodzioch K, Rudzinska M, Pietrzyk JJ, Bik-Multanowski M, Szczudlik A.

Mov Disord. 2011 Feb 1;26(2):337-40. doi: 10.1002/mds.23364. Epub 2010 Sep 14.

PMID:: 20842687; [PubMed - indexed for MEDLINE]

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Select item 2069453117.

Rare causes of dystonia parkinsonism.

Schneider SA, Bhatia KP.

Curr Neurol Neurosci Rep. 2010 Nov;10(6):431-9. doi: 10.1007/s11910-010-0136-0. Review.

PMID:: 20694531; [PubMed - indexed for MEDLINE]

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Select item 2059080718.

Dystonia-plus syndromes.

Asmus F, Gasser T.

Eur J Neurol. 2010 Jul;17 Suppl 1:37-45. doi: 10.1111/j.1468-1331.2010.03049.x. Review.

PMID:: 20590807; [PubMed - indexed for MEDLINE]

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Select item 2049818919.

Two in the hand, an essential lesson in tremor management.

Gallagher P, Archibald N, Goldsmith P, Burn D.

Pract Neurol. 2010 Jun;10(3):160-3. doi: 10.1136/jnnp.2010.211847.

PMID:: 20498189; [PubMed - indexed for MEDLINE]

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Select item 2043754020.

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; [PubMed - indexed for MEDLINE]

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4 free full-text articles in PubMed Central

Dopa-responsive dystonia with a novel initiation codon mutation in the GCH1 gene misdiagnosed as cerebral palsy. [J Korean Med Sci. 2011]
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. Epub 2011 Sep 1.
Mutation in 5' upstream region of GCHI gene causes familial dopa-responsive dystonia. [Mov Disord. 2011]
Mutation in 5' upstream region of GCHI gene causes familial dopa-responsive dystonia.
Sharma N, Armata IA, Multhaupt-Buell TJ, Ozelius LJ, Xin W, Sims KB. Mov Disord. 2011 Sep; 26(11):2140-1. Epub 2011 Jun 14.
Differential involvement of striosome and matrix dopamine systems in a transgenic model of dopa-responsive dystonia. [Proc Natl Acad Sci U S A. 2008]
Differential involvement of striosome and matrix dopamine systems in a transgenic model of dopa-responsive dystonia.
Sato K, Sumi-Ichinose C, Kaji R, Ikemoto K, Nomura T, Nagatsu I, Ichinose H, Ito M, Sako W, Nagahiro S, et al. Proc Natl Acad Sci U S A. 2008 Aug 26; 105(34):12551-6. Epub 2008 Aug 19.

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