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Results: 1 to 20 of 125

Similar articles for PubMed (Select 19652145)

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.

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
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
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.

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.

6.

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.

7.

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
8.

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
9.

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.

10.

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
11.

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
12.

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
13.

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
14.

The genetics of primary dystonias and related disorders.

Németh AH.

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

15.

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
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.

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
18.

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
19.

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.

20.

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
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