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Items: 1 to 20 of 104

1.

ATP1A3 mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia.

Brashear A, Mink JW, Hill DF, Boggs N, McCall WV, Stacy MA, Snively B, Light LS, Sweadner KJ, Ozelius LJ, Morrison L.

Dev Med Child Neurol. 2012 Nov;54(11):1065-7. doi: 10.1111/j.1469-8749.2012.04421.x. Epub 2012 Aug 28. Review.

2.

The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond.

Sweney MT, Newcomb TM, Swoboda KJ.

Pediatr Neurol. 2015 Jan;52(1):56-64. doi: 10.1016/j.pediatrneurol.2014.09.015. Epub 2014 Oct 13. Review.

3.

ATP1A3 Mutation in Adult Rapid-Onset Ataxia.

Sweadner KJ, Toro C, Whitlow CT, Snively BM, Cook JF, Ozelius LJ, Markello TC, Brashear A.

PLoS One. 2016 Mar 18;11(3):e0151429. doi: 10.1371/journal.pone.0151429. eCollection 2016.

4.

[A childhood-onset rapid-onset dystonia parkinsonism family with ATP1A3 gene mutation and literatures review].

Zhang CL, Yin F, He F, Gai N, Shi ZQ, Peng J.

Zhonghua Er Ke Za Zhi. 2017 Apr 2;55(4):288-293. doi: 10.3760/cma.j.issn.0578-1310.2017.04.011. Chinese.

PMID:
28441826
5.

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
6.

New triggers and non-motor findings in a family with rapid-onset dystonia-parkinsonism.

Barbano RL, Hill DF, Snively BM, Light LS, Boggs N, McCall WV, Stacy M, Ozelius L, Sweadner KJ, Brashear A.

Parkinsonism Relat Disord. 2012 Jul;18(6):737-41. doi: 10.1016/j.parkreldis.2012.03.020. Epub 2012 Apr 24.

7.

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.

8.

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
9.

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
10.

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.

11.

Genome sequencing identifies a novel mutation in ATP1A3 in a family with dystonia in females only.

Wilcox R, Brænne I, Brüggemann N, Winkler S, Wiegers K, Bertram L, Anderson T, Lohmann K.

J Neurol. 2015 Jan;262(1):187-93. doi: 10.1007/s00415-014-7547-9. Epub 2014 Oct 31.

PMID:
25359261
12.

Psychiatric disorders in rapid-onset dystonia-parkinsonism.

Brashear A, Cook JF, Hill DF, Amponsah A, Snively BM, Light L, Boggs N, Suerken CK, Stacy M, Ozelius L, Sweadner KJ, McCall WV.

Neurology. 2012 Sep 11;79(11):1168-73. doi: 10.1212/WNL.0b013e3182698d6c. Epub 2012 Aug 29.

13.

Sporadic rapid-onset dystonia-parkinsonism presenting as Parkinson's disease.

Kamphuis DJ, Koelman H, Lees AJ, Tijssen MA.

Mov Disord. 2006 Jan;21(1):118-9.

PMID:
16161139
14.

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
15.

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
16.

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
17.

Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation.

Dard R, Mignot C, Durr A, Lesca G, Sanlaville D, Roze E, Mochel F.

Dev Med Child Neurol. 2015 Dec;57(12):1183-6. doi: 10.1111/dmcn.12927. Epub 2015 Sep 23.

18.

De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis.

Kanemasa H, Fukai R, Sakai Y, Torio M, Miyake N, Lee S, Ono H, Akamine S, Nishiyama K, Sanefuji M, Ishizaki Y, Torisu H, Saitsu H, Matsumoto N, Hara T.

BMC Neurol. 2016 Sep 15;16:174. doi: 10.1186/s12883-016-0680-6.

19.

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
20.

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].

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