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Items: 1 to 20 of 91

1.

Neuropathology of primary adult-onset dystonia.

Holton JL, Schneider SA, Ganesharajah T, Gandhi S, Strand C, Shashidharan P, Barreto J, Wood NW, Lees AJ, Bhatia KP, Revesz T.

Neurology. 2008 Feb 26;70(9):695-9. doi: 10.1212/01.wnl.0000302175.76229.f0.

PMID:
18299520
2.

Brainstem pathology in DYT1 primary torsion dystonia.

McNaught KS, Kapustin A, Jackson T, Jengelley TA, Jnobaptiste R, Shashidharan P, Perl DP, Pasik P, Olanow CW.

Ann Neurol. 2004 Oct;56(4):540-7. Erratum in: Ann Neurol. 2004 Nov;56(5):750.

PMID:
15455404
3.

Neuropathological features of genetically confirmed DYT1 dystonia: investigating disease-specific inclusions.

Paudel R, Kiely A, Li A, Lashley T, Bandopadhyay R, Hardy J, Jinnah HA, Bhatia K, Houlden H, Holton JL.

Acta Neuropathol Commun. 2014 Nov 18;2:159. doi: 10.1186/s40478-014-0159-x.

4.

Subtle microstructural changes of the striatum in a DYT1 knock-in mouse model of dystonia.

Song CH, Bernhard D, Bolarinwa C, Hess EJ, Smith Y, Jinnah HA.

Neurobiol Dis. 2013 Jun;54:362-71. doi: 10.1016/j.nbd.2013.01.008. Epub 2013 Jan 19.

5.

Defects in the striatal neuropeptide Y system in X-linked dystonia-parkinsonism.

Goto S, Kawarai T, Morigaki R, Okita S, Koizumi H, Nagahiro S, Munoz EL, Lee LV, Kaji R.

Brain. 2013 May;136(Pt 5):1555-67. doi: 10.1093/brain/awt084. Epub 2013 Apr 18.

6.
7.

Impairment of bidirectional synaptic plasticity in the striatum of a mouse model of DYT1 dystonia: role of endogenous acetylcholine.

Martella G, Tassone A, Sciamanna G, Platania P, Cuomo D, Viscomi MT, Bonsi P, Cacci E, Biagioni S, Usiello A, Bernardi G, Sharma N, Standaert DG, Pisani A.

Brain. 2009 Sep;132(Pt 9):2336-49. doi: 10.1093/brain/awp194. Epub 2009 Jul 29.

8.

The monogenic primary dystonias.

Müller U.

Brain. 2009 Aug;132(Pt 8):2005-25. doi: 10.1093/brain/awp172. Epub 2009 Jul 3. Review.

9.

The spectrum of disorders presenting as adult-onset focal lower extremity dystonia.

McKeon A, Matsumoto JY, Bower JH, Ahlskog JE.

Parkinsonism Relat Disord. 2008 Dec;14(8):613-9. doi: 10.1016/j.parkreldis.2008.01.012. Epub 2008 Mar 7.

PMID:
18329318
10.

Molecular dissection and anatomical basis of dystonia: X-linked recessive dystonia-parkinsonism (DYT3).

Kaji R, Goto S, Tamiya G, Ando S, Makino S, Lee LV.

J Med Invest. 2005 Nov;52 Suppl:280-3.

11.

[Molecular and anatomical bases of dystonia: X-linked recessive dystonia-parkinsonism (DYT3)].

Kaji R, Goto S, Tamiya G, Lee LV.

Rinsho Shinkeigaku. 2005 Nov;45(11):811-4. Japanese.

PMID:
16447732
12.

TorsinA protein and neuropathology in early onset generalized dystonia with GAG deletion.

Rostasy K, Augood SJ, Hewett JW, Leung JC, Sasaki H, Ozelius LJ, Ramesh V, Standaert DG, Breakefield XO, Hedreen JC.

Neurobiol Dis. 2003 Feb;12(1):11-24.

PMID:
12609485
13.

TorsinA immunoreactivity in brains of patients with DYT1 and non-DYT1 dystonia.

Walker RH, Brin MF, Sandu D, Good PF, Shashidharan P.

Neurology. 2002 Jan 8;58(1):120-4.

PMID:
11781416
14.

Functional anatomy of the basal ganglia in X-linked recessive dystonia-parkinsonism.

Goto S, Lee LV, Munoz EL, Tooyama I, Tamiya G, Makino S, Ando S, Dantes MB, Yamada K, Matsumoto S, Shimazu H, Kuratsu J, Hirano A, Kaji R.

Ann Neurol. 2005 Jul;58(1):7-17.

PMID:
15912496
15.

Generation and characterization of Dyt1 DeltaGAG knock-in mouse as a model for early-onset dystonia.

Dang MT, Yokoi F, McNaught KS, Jengelley TA, Jackson T, Li J, Li Y.

Exp Neurol. 2005 Dec;196(2):452-63. Epub 2005 Oct 20.

PMID:
16242683
16.

DYT1 mutations in early onset primary torsion dystonia and Parkinson disease patients in Chinese populations.

Yang JF, Wu T, Li JY, Li YJ, Zhang YL, Chan P.

Neurosci Lett. 2009 Jan 30;450(2):117-21. doi: 10.1016/j.neulet.2008.10.111. Epub 2008 Nov 20.

PMID:
19038309
17.

Mutant torsinA, which causes early-onset primary torsion dystonia, is redistributed to membranous structures enriched in vesicular monoamine transporter in cultured human SH-SY5Y cells.

Misbahuddin A, Placzek MR, Taanman JW, Gschmeissner S, Schiavo G, Cooper JM, Warner TT.

Mov Disord. 2005 Apr;20(4):432-40.

PMID:
15593317
18.

Frequency of DYT1 mutation in early onset primary dystonia in Italian patients.

Zorzi G, Garavaglia B, Invernizzi F, Girotti F, Soliveri P, Zeviani M, Angelini L, Nardocci N.

Mov Disord. 2002 Mar;17(2):407-8.

PMID:
11921134
19.

Transgenic mouse model of early-onset DYT1 dystonia.

Shashidharan P, Sandu D, Potla U, Armata IA, Walker RH, McNaught KS, Weisz D, Sreenath T, Brin MF, Olanow CW.

Hum Mol Genet. 2005 Jan 1;14(1):125-33. Epub 2004 Nov 17.

20.

Synaptic vesicle recycling is enhanced by torsinA that harbors the DYT1 dystonia mutation.

Kakazu Y, Koh JY, Ho KW, Gonzalez-Alegre P, Harata NC.

Synapse. 2012 May;66(5):453-64. doi: 10.1002/syn.21534. Epub 2012 Feb 15.

PMID:
22213465
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