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Results: 1 to 20 of 160

1.

Alteration of striatal dopaminergic neurotransmission in a mouse model of DYT11 myoclonus-dystonia.

Zhang L, Yokoi F, Parsons DS, Standaert DG, Li Y.

PLoS One. 2012;7(3):e33669. doi: 10.1371/journal.pone.0033669. Epub 2012 Mar 16.

PMID:
22438980
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Abnormal nuclear envelopes in the striatum and motor deficits in DYT11 myoclonus-dystonia mouse models.

Yokoi F, Dang MT, Zhou T, Li Y.

Hum Mol Genet. 2012 Feb 15;21(4):916-25. doi: 10.1093/hmg/ddr528. Epub 2011 Nov 11.

PMID:
22080833
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Abnormal nuclear envelope in the cerebellar Purkinje cells and impaired motor learning in DYT11 myoclonus-dystonia mouse models.

Yokoi F, Dang MT, Yang G, Li J, Doroodchi A, Zhou T, Li Y.

Behav Brain Res. 2012 Feb 1;227(1):12-20. doi: 10.1016/j.bbr.2011.10.024. Epub 2011 Oct 21.

PMID:
22040906
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Myoclonus, motor deficits, alterations in emotional responses and monoamine metabolism in epsilon-sarcoglycan deficient mice.

Yokoi F, Dang MT, Li J, Li Y.

J Biochem. 2006 Jul;140(1):141-6. Epub 2006 Jun 30.

PMID:
16815860
[PubMed - indexed for MEDLINE]
5.

Earlier onset of motor deficits in mice with double mutations in Dyt1 and Sgce.

Yokoi F, Yang G, Li J, DeAndrade MP, Zhou T, Li Y.

J Biochem. 2010 Oct;148(4):459-66. doi: 10.1093/jb/mvq078. Epub 2010 Jul 13.

PMID:
20627944
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA.

Esapa CT, Waite A, Locke M, Benson MA, Kraus M, McIlhinney RA, Sillitoe RV, Beesley PW, Blake DJ.

Hum Mol Genet. 2007 Feb 1;16(3):327-42. Epub 2007 Jan 2.

PMID:
17200151
[PubMed - indexed for MEDLINE]
Free Article
7.

Pediatric writer's cramp in myoclonus-dystonia: maternal imprinting hides positive family history.

Gerrits MC, Foncke EM, Koelman JH, Tijssen MA.

Eur J Paediatr Neurol. 2009 Mar;13(2):178-80. doi: 10.1016/j.ejpn.2008.03.007. Epub 2008 Jun 20.

PMID:
18571946
[PubMed - indexed for MEDLINE]
8.

Reduced striatal D2 receptor binding in myoclonus-dystonia.

Beukers RJ, Booij J, Weisscher N, Zijlstra F, van Amelsvoort TA, Tijssen MA.

Eur J Nucl Med Mol Imaging. 2009 Feb;36(2):269-74. doi: 10.1007/s00259-008-0924-9. Epub 2008 Aug 22.

PMID:
18719906
[PubMed - indexed for MEDLINE]
9.

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
10.

Dopamine D2-receptor knockout mice are protected against dopaminergic neurotoxicity induced by methamphetamine or MDMA.

Granado N, Ares-Santos S, Oliva I, O'Shea E, Martin ED, Colado MI, Moratalla R.

Neurobiol Dis. 2011 Jun;42(3):391-403. doi: 10.1016/j.nbd.2011.01.033. Epub 2011 Feb 15.

PMID:
21303698
[PubMed - indexed for MEDLINE]
11.

Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes.

Tezenas du Montcel S, Clot F, Vidailhet M, Roze E, Damier P, Jedynak CP, Camuzat A, Lagueny A, Vercueil L, Doummar D, Guyant-Maréchal L, Houeto JL, Ponsot G, Thobois S, Cournelle MA, Durr A, Durif F, Echenne B, Hannequin D, Tranchant C, Brice A; French Dystonia Network.

J Med Genet. 2006 May;43(5):394-400. Epub 2005 Oct 14.

PMID:
16227522
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

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
13.

Unusual familial presentation of epsilon-sarcoglycan gene mutation with falls and writer's cramp.

Koukouni V, Valente EM, Cordivari C, Bhatia KP, Quinn NP.

Mov Disord. 2008 Oct 15;23(13):1913-5. doi: 10.1002/mds.21935.

PMID:
18702114
[PubMed - indexed for MEDLINE]
14.

Developmental and age-related changes of dopamine transporter, and dopamine D1 and D2 receptors in human basal ganglia.

Meng SZ, Ozawa Y, Itoh M, Takashima S.

Brain Res. 1999 Oct 2;843(1-2):136-44.

PMID:
10528120
[PubMed - indexed for MEDLINE]
15.

Genetic heterogeneity in ten families with myoclonus-dystonia.

Schüle B, Kock N, Svetel M, Dragasevic N, Hedrich K, De Carvalho Aguiar P, Liu L, Kabakci K, Garrels J, Meyer EM, Berisavac I, Schwinger E, Kramer PL, Ozelius LJ, Klein C, Kostic V.

J Neurol Neurosurg Psychiatry. 2004 Aug;75(8):1181-5.

PMID:
15258227
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Role of aberrant striatal dopamine D1 receptor/cAMP/protein kinase A/DARPP32 signaling in the paradoxical calming effect of amphetamine.

Napolitano F, Bonito-Oliva A, Federici M, Carta M, Errico F, Magara S, Martella G, Nisticò R, Centonze D, Pisani A, Gu HH, Mercuri NB, Usiello A.

J Neurosci. 2010 Aug 18;30(33):11043-56. doi: 10.1523/JNEUROSCI.1682-10.2010.

PMID:
20720111
[PubMed - indexed for MEDLINE]
Free Article
17.

Myoclonus-dystonia due to maternal uniparental disomy.

Guettard E, Portnoi MF, Lohmann-Hedrich K, Keren B, Rossignol S, Winkler S, El Kamel I, Leu S, Apartis E, Vidailhet M, Klein C, Roze E.

Arch Neurol. 2008 Oct;65(10):1380-5. doi: 10.1001/archneur.65.10.1380.

PMID:
18852357
[PubMed - indexed for MEDLINE]
18.

D-amphetamine responses in catechol-O-methyltransferase (COMT) disrupted mice.

Huotari M, García-Horsman JA, Karayiorgou M, Gogos JA, Männistö PT.

Psychopharmacology (Berl). 2004 Feb;172(1):1-10. Epub 2003 Oct 23.

PMID:
14574438
[PubMed - indexed for MEDLINE]
19.

Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome.

Zimprich A, Grabowski M, Asmus F, Naumann M, Berg D, Bertram M, Scheidtmann K, Kern P, Winkelmann J, Müller-Myhsok B, Riedel L, Bauer M, Müller T, Castro M, Meitinger T, Strom TM, Gasser T.

Nat Genet. 2001 Sep;29(1):66-9.

PMID:
11528394
[PubMed - indexed for MEDLINE]
20.

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]

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