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Items: 1 to 20 of 231

1.

The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene.

Brashear A, Dobyns WB, de Carvalho Aguiar P, Borg M, Frijns CJ, Gollamudi S, Green A, Guimaraes J, Haake BC, Klein C, Linazasoro G, Münchau A, Raymond D, Riley D, Saunders-Pullman R, Tijssen MA, Webb D, Zaremba J, Bressman SB, Ozelius LJ.

Brain. 2007 Mar;130(Pt 3):828-35. Epub 2007 Feb 4.

PMID:
17282997
2.

Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism.

de Carvalho Aguiar P, Sweadner KJ, Penniston JT, Zaremba J, Liu L, Caton M, Linazasoro G, Borg M, Tijssen MA, Bressman SB, Dobyns WB, Brashear A, Ozelius LJ.

Neuron. 2004 Jul 22;43(2):169-75.

3.

Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study.

Rosewich H, Thiele H, Ohlenbusch A, Maschke U, Altmüller J, Frommolt P, Zirn B, Ebinger F, Siemes H, Nürnberg P, Brockmann K, Gärtner J.

Lancet Neurol. 2012 Sep;11(9):764-73. doi: 10.1016/S1474-4422(12)70182-5. Epub 2012 Jul 30.

PMID:
22850527
4.
5.

Heterogeneity of presentation and outcome in the Irish rapid-onset dystonia-parkinsonism kindred.

McKeon A, Ozelius LJ, Hardiman O, Greenway MJ, Pittock SJ.

Mov Disord. 2007 Jul 15;22(9):1325-7.

PMID:
17516473
6.

Cognitive impairment in rapid-onset dystonia-parkinsonism.

Cook JF, Hill DF, Snively BM, Boggs N, Suerken CK, Haq I, Stacy M, McCall WV, Ozelius LJ, Sweadner KJ, Brashear A.

Mov Disord. 2014 Mar;29(3):344-50. doi: 10.1002/mds.25790. Epub 2014 Jan 16.

7.

[Rapid-onset dystonia-parkinsonism].

Zaremba J.

Przegl Lek. 2005;62(11):1296-7. Review. Polish.

PMID:
16512624
8.

ATP1A3 mutation in the first asian case of rapid-onset dystonia-parkinsonism.

Lee JY, Gollamudi S, Ozelius LJ, Kim JY, Jeon BS.

Mov Disord. 2007 Sep 15;22(12):1808-9.

PMID:
17595045
9.

Novel ATP1A3 mutation in a sporadic RDP patient with minimal benefit from deep brain stimulation.

Kamm C, Fogel W, Wächter T, Schweitzer K, Berg D, Kruger R, Freudenstein D, Gasser T.

Neurology. 2008 Apr 15;70(16 Pt 2):1501-3. doi: 10.1212/01.wnl.0000310431.41036.e0. No abstract available.

PMID:
18413579
10.

A C-terminal mutation of ATP1A3 underscores the crucial role of sodium affinity in the pathophysiology of rapid-onset dystonia-parkinsonism.

Blanco-Arias P, Einholm AP, Mamsa H, Concheiro C, Gutiérrez-de-Terán H, Romero J, Toustrup-Jensen MS, Carracedo A, Jen JC, Vilsen B, Sobrido MJ.

Hum Mol Genet. 2009 Jul 1;18(13):2370-7. doi: 10.1093/hmg/ddp170. Epub 2009 Apr 7.

PMID:
19351654
11.

The expanding clinical and genetic spectrum of ATP1A3-related disorders.

Rosewich H, Ohlenbusch A, Huppke P, Schlotawa L, Baethmann M, Carrilho I, Fiori S, Lourenço CM, Sawyer S, Steinfeld R, Gärtner J, Brockmann K.

Neurology. 2014 Mar 18;82(11):945-55. doi: 10.1212/WNL.0000000000000212. Epub 2014 Feb 12.

PMID:
24523486
12.

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
13.

Characterization of Atp1a3 mutant mice as a model of rapid-onset dystonia with parkinsonism.

DeAndrade MP, Yokoi F, van Groen T, Lingrel JB, Li Y.

Behav Brain Res. 2011 Jan 20;216(2):659-65. doi: 10.1016/j.bbr.2010.09.009. Epub 2010 Sep 17.

14.

ATP1A3-Related Neurologic Disorders.

Brashear A, Sweadner KJ, Cook JF, Swoboda KJ, Ozelius L.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2008 Feb 7 [updated 2014 Nov 6].

15.

Genetic heterogeneity in rapid onset dystonia-parkinsonism: description of a new family.

Kabakci K, Isbruch K, Schilling K, Hedrich K, de Carvalho Aguiar P, Ozelius LJ, Kramer PL, Schwarz MH, Klein C.

J Neurol Neurosurg Psychiatry. 2005 Jun;76(6):860-2.

16.

Rapid-onset dystonia-parkinsonism: a fourth family consistent with linkage to chromosome 19q13.

Zaremba J, Mierzewska H, Lysiak Z, Kramer P, Ozelius LJ, Brashear A.

Mov Disord. 2004 Dec;19(12):1506-10.

PMID:
15390049
17.

Heterozygous mice deficient in Atp1a3 exhibit motor deficits by chronic restraint stress.

Sugimoto H, Ikeda K, Kawakami K.

Behav Brain Res. 2014 Oct 1;272:100-10. doi: 10.1016/j.bbr.2014.06.048. Epub 2014 Jun 29.

PMID:
24983657
18.

Identical ATP1A3 mutation causes alternating hemiplegia of childhood and rapid-onset dystonia parkinsonism phenotypes.

Boelman C, Lagman-Bartolome AM, MacGregor DL, McCabe J, Logan WJ, Minassian BA.

Pediatr Neurol. 2014 Dec;51(6):850-3. doi: 10.1016/j.pediatrneurol.2014.08.015. Epub 2014 Aug 29.

PMID:
25439493
19.

A novel ATP1A3 mutation with unique clinical presentation.

Rosewich H, Baethmann M, Ohlenbusch A, Gärtner J, Brockmann K.

J Neurol Sci. 2014 Jun 15;341(1-2):133-5. doi: 10.1016/j.jns.2014.03.034. Epub 2014 Mar 25.

PMID:
24713507
20.

Rapid-onset dystonia-parkinsonism associated with the I758S mutation of the ATP1A3 gene: a neuropathologic and neuroanatomical study of four siblings.

Oblak AL, Hagen MC, Sweadner KJ, Haq I, Whitlow CT, Maldjian JA, Epperson F, Cook JF, Stacy M, Murrell JR, Ozelius LJ, Brashear A, Ghetti B.

Acta Neuropathol. 2014 Jul;128(1):81-98. doi: 10.1007/s00401-014-1279-x. Epub 2014 May 7.

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