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Results: 1 to 20 of 105

1.

New genetic insights highlight 'old' ideas on motor dysfunction in dystonia.

Goodchild RE, Grundmann K, Pisani A.

Trends Neurosci. 2013 Dec;36(12):717-25. doi: 10.1016/j.tins.2013.09.003. Epub 2013 Oct 18. Review.

PMID:
24144882
[PubMed - indexed for MEDLINE]
2.

Gα(olf) mutation allows parsing the role of cAMP-dependent and extracellular signal-regulated kinase-dependent signaling in L-3,4-dihydroxyphenylalanine-induced dyskinesia.

Alcacer C, Santini E, Valjent E, Gaven F, Girault JA, Hervé D.

J Neurosci. 2012 Apr 25;32(17):5900-10. doi: 10.1523/JNEUROSCI.0837-12.2012.

PMID:
22539851
[PubMed - indexed for MEDLINE]
Free Article
3.

Hereditary progressive dystonia with marked diurnal fluctuation.

Segawa M.

Brain Dev. 2000 Sep;22 Suppl 1:S65-80. Review.

PMID:
10984664
[PubMed - indexed for MEDLINE]
4.

Dopamine release is impaired in a mouse model of DYT1 dystonia.

Balcioglu A, Kim MO, Sharma N, Cha JH, Breakefield XO, Standaert DG.

J Neurochem. 2007 Aug;102(3):783-8. Epub 2007 Apr 30.

PMID:
17550429
[PubMed - indexed for MEDLINE]
5.

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]
6.

Striatal biopterin and tyrosine hydroxylase protein reduction in dopa-responsive dystonia.

Furukawa Y, Nygaard TG, Gütlich M, Rajput AH, Pifl C, DiStefano L, Chang LJ, Price K, Shimadzu M, Hornykiewicz O, Haycock JW, Kish SJ.

Neurology. 1999 Sep 22;53(5):1032-41.

PMID:
10496263
[PubMed - indexed for MEDLINE]
7.

Dopamine D2 receptor dysfunction is rescued by adenosine A2A receptor antagonism in a model of DYT1 dystonia.

Napolitano F, Pasqualetti M, Usiello A, Santini E, Pacini G, Sciamanna G, Errico F, Tassone A, Di Dato V, Martella G, Cuomo D, Fisone G, Bernardi G, Mandolesi G, Mercuri NB, Standaert DG, Pisani A.

Neurobiol Dis. 2010 Jun;38(3):434-45. doi: 10.1016/j.nbd.2010.03.003. Epub 2010 Mar 19.

PMID:
20227500
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Mutation screening of GNAL gene in patients with primary dystonia from Northeast China.

Miao J, Wan XH, Sun Y, Feng JC, Cheng FB.

Parkinsonism Relat Disord. 2013 Oct;19(10):910-2. doi: 10.1016/j.parkreldis.2013.05.011. Epub 2013 Jun 10.

PMID:
23759320
[PubMed - indexed for MEDLINE]
9.

Function of dopamine transporter is compromised in DYT1 transgenic animal model in vivo.

Hewett J, Johanson P, Sharma N, Standaert D, Balcioglu A.

J Neurochem. 2010 Apr;113(1):228-35. doi: 10.1111/j.1471-4159.2010.06590.x. Epub 2010 Feb 2.

PMID:
20132487
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Drug-induced motor complications in dopa-responsive dystonia: implications for the pathogenesis of dyskinesias and motor fluctuations.

de la Fuente-Fernández R.

Clin Neuropharmacol. 1999 Jul-Aug;22(4):216-9.

PMID:
10442251
[PubMed - indexed for MEDLINE]
11.

GTP cyclohydrolase I gene, dystonia, juvenile parkinsonism, and Parkinson's disease.

Nagatsu T, Ichinose H.

J Neural Transm Suppl. 1997;49:203-9. Review.

PMID:
9266429
[PubMed - indexed for MEDLINE]
12.

Primary and secondary dystonic syndromes: an update.

Charlesworth G, Bhatia KP.

Curr Opin Neurol. 2013 Aug;26(4):406-12. doi: 10.1097/WCO.0b013e3283633696. Review.

PMID:
23757263
[PubMed - indexed for MEDLINE]
13.

Quantitative changes in Galphaolf protein levels, but not D1 receptor, alter specifically acute responses to psychostimulants.

Corvol JC, Valjent E, Pascoli V, Robin A, Stipanovich A, Luedtke RR, Belluscio L, Girault JA, Hervé D.

Neuropsychopharmacology. 2007 May;32(5):1109-21. Epub 2006 Oct 25.

PMID:
17063155
[PubMed - indexed for MEDLINE]
Free Article
14.

Role of Gα(olf) in familial and sporadic adult-onset primary dystonia.

Vemula SR, Puschmann A, Xiao J, Zhao Y, Rudzińska M, Frei KP, Truong DD, Wszolek ZK, LeDoux MS.

Hum Mol Genet. 2013 Jun 15;22(12):2510-9. doi: 10.1093/hmg/ddt102. Epub 2013 Feb 27.

PMID:
23449625
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

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, Graybiel AM, Goto S.

Proc Natl Acad Sci U S A. 2008 Aug 26;105(34):12551-6. doi: 10.1073/pnas.0806065105. Epub 2008 Aug 19.

PMID:
18713855
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Molecular genetics of dopa-responsive dystonia.

Ichinose H, Suzuki T, Inagaki H, Ohye T, Nagatsu T.

Biol Chem. 1999 Dec;380(12):1355-64. Review.

PMID:
10661862
[PubMed - indexed for MEDLINE]
17.

Dopa-responsive dystonia: a syndrome of selective nigrostriatal dopaminergic deficiency.

Jeon BS.

J Korean Med Sci. 1997 Aug;12(4):269-79. Review. Erratum in: J Korean Med Sci 1997 Oct;12(5):480.

PMID:
9288624
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Rhes, a striatal-enriched small G protein, mediates mTOR signaling and L-DOPA-induced dyskinesia.

Subramaniam S, Napolitano F, Mealer RG, Kim S, Errico F, Barrow R, Shahani N, Tyagi R, Snyder SH, Usiello A.

Nat Neurosci. 2011 Dec 18;15(2):191-3. doi: 10.1038/nn.2994.

PMID:
22179112
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

[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]
20.

Abnormal striatal and thalamic dopamine neurotransmission: Genotype-related features of dystonia.

Carbon M, Niethammer M, Peng S, Raymond D, Dhawan V, Chaly T, Ma Y, Bressman S, Eidelberg D.

Neurology. 2009 Jun 16;72(24):2097-103. doi: 10.1212/WNL.0b013e3181aa538f.

PMID:
19528516
[PubMed - indexed for MEDLINE]
Free PMC Article

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