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Results: 1 to 20 of 101

Related Citations for PubMed (Select 24803225)

1.

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.

2.

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
3.

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.

4.

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.

5.

ATP1A3-Related Neurologic Disorders.

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

In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
2008 Feb 07 [updated 2014 Nov 06].

6.

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
7.

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.

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.

Distribution of Na/K-ATPase alpha 3 isoform, a sodium-potassium P-type pump associated with rapid-onset of dystonia parkinsonism (RDP) in the adult mouse brain.

Bøttger P, Tracz Z, Heuck A, Nissen P, Romero-Ramos M, Lykke-Hartmann K.

J Comp Neurol. 2011 Feb 1;519(2):376-404. doi: 10.1002/cne.22524.

PMID:
21165980
10.

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.

11.

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.

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.

Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation.

Anselm IA, Sweadner KJ, Gollamudi S, Ozelius LJ, Darras BT.

Neurology. 2009 Aug 4;73(5):400-1. doi: 10.1212/WNL.0b013e3181b04acd. No abstract available.

14.

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.

15.

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
16.

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.

PMID:
15260953
17.

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.

PMID:
25447930
18.

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.

19.

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood.

Heinzen EL, Swoboda KJ, Hitomi Y, Gurrieri F, Nicole S, de Vries B, Tiziano FD, Fontaine B, Walley NM, Heavin S, Panagiotakaki E; European Alternating Hemiplegia of Childhood (AHC) Genetics Consortium; Biobanca e Registro Clinico per l'Emiplegia Alternante (I.B.AHC) Consortium; European Network for Research on Alternating Hemiplegia (ENRAH) for Small and Medium-sized Enterpriese (SMEs) Consortium, Fiori S, Abiusi E, Di Pietro L, Sweney MT, Newcomb TM, Viollet L, Huff C, Jorde LB, Reyna SP, Murphy KJ, Shianna KV, Gumbs CE, Little L, Silver K, Ptáček LJ, Haan J, Ferrari MD, Bye AM, Herkes GK, Whitelaw CM, Webb D, Lynch BJ, Uldall P, King MD, Scheffer IE, Neri G, Arzimanoglou A, van den Maagdenberg AM, Sisodiya SM, Mikati MA, Goldstein DB.

Nat Genet. 2012 Sep;44(9):1030-4. doi: 10.1038/ng.2358. Epub 2012 Jul 29.

20.

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
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