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Results: 1 to 20 of 122

1.

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.

PMID:
19652145
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Rapid-onset dystonia-parkinsonism: case report.

Svetel M, Ozelius LJ, Buckley A, Lohmann K, Brajković L, Klein C, Kostić VS.

J Neurol. 2010 Mar;257(3):472-4. doi: 10.1007/s00415-009-5385-y. No abstract available.

PMID:
19936820
[PubMed - indexed for MEDLINE]
3.

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
[PubMed - indexed for MEDLINE]
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.

PMID:
17282997
[PubMed - indexed for MEDLINE]
Free Article
5.

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.

PMID:
20850480
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

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
[PubMed - indexed for MEDLINE]
7.

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
[PubMed - indexed for MEDLINE]
8.

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
[PubMed - indexed for MEDLINE]
Free Article
9.

Re: CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy.

Fichou Y, Bieth E, Bahi-Buisson N, Nectoux J, Girard B, Chelly J, Chaix Y, Bienvenu T.

Neurology. 2009 Jul 7;73(1):77-8; author reply 78. doi: 10.1212/01.wnl.0000349658.05677.d7. No abstract available.

PMID:
19564592
[PubMed - indexed for MEDLINE]
10.

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
[PubMed - indexed for MEDLINE]
11.

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
[PubMed - indexed for MEDLINE]
12.

Strong genetic evidence for association of TOR1A/TOR1B with idiopathic dystonia.

Kamm C, Asmus F, Mueller J, Mayer P, Sharma M, Muller UJ, Beckert S, Ehling R, Illig T, Wichmann HE, Poewe W, Mueller JC, Gasser T.

Neurology. 2006 Nov 28;67(10):1857-9.

PMID:
17130424
[PubMed - indexed for MEDLINE]
13.

The genetics of primary dystonias and related disorders.

Németh AH.

Brain. 2002 Apr;125(Pt 4):695-721. Review.

PMID:
11912106
[PubMed - indexed for MEDLINE]
Free Article
14.

Expansion of the first polyalanine tract of the ARX gene in a boy presenting with generalized dystonia in the absence of infantile spasms.

Shinozaki Y, Osawa M, Sakuma H, Komaki H, Nakagawa E, Sugai K, Sasaki M, Goto Y.

Brain Dev. 2009 Jun;31(6):469-72. doi: 10.1016/j.braindev.2008.08.006. Epub 2008 Sep 26.

PMID:
18823727
[PubMed - indexed for MEDLINE]
15.

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
[PubMed - indexed for MEDLINE]
16.

Intrafamilial phenotypic and genetic heterogeneity of dystonia.

Kostić VS, Svetel M, Kabakci K, Ristić A, Petrović I, Schüle B, Kock N, Djarmati A, Romac S, Klein C.

J Neurol Sci. 2006 Dec 1;250(1-2):92-6. Epub 2006 Oct 5.

PMID:
17027035
[PubMed - indexed for MEDLINE]
17.

Phenotypic spectrum of patients with PLA2G6 mutation and PARK14-linked parkinsonism.

Yoshino H, Tomiyama H, Tachibana N, Ogaki K, Li Y, Funayama M, Hashimoto T, Takashima S, Hattori N.

Neurology. 2010 Oct 12;75(15):1356-61. doi: 10.1212/WNL.0b013e3181f73649.

PMID:
20938027
[PubMed - indexed for MEDLINE]
18.

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
[PubMed - indexed for MEDLINE]
Free Article
19.

LRRK2 and Parkin mutations in a family with parkinsonism-Lack of genotype-phenotype correlation.

Marras C, Klein C, Lang AE, Wakutani Y, Moreno D, Sato C, Yip E, Munhoz RP, Lohmann K, Djarmati A, Bi A, Rogaeva E.

Neurobiol Aging. 2010 Apr;31(4):721-2. doi: 10.1016/j.neurobiolaging.2008.05.030. Epub 2008 Jul 21.

PMID:
18644660
[PubMed - indexed for MEDLINE]
20.

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.

PMID:
22924536
[PubMed - indexed for MEDLINE]
Free PMC Article
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