Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 88

1.

Alternating hemiplegia of childhood and rapid-onset dystonia parkinsonism are allelic disorders due to ATP1A3 gene mutations.

Alexoudi A, Schneider SA.

Mov Disord. 2012 Oct;27(12):1494. No abstract available.

PMID:
23460948
[PubMed]
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
[PubMed - in process]
3.

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.

PMID:
22842232
[PubMed - indexed for MEDLINE]
Free PMC Article
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.

Distinct neurological disorders with ATP1A3 mutations.

Heinzen EL, Arzimanoglou A, Brashear A, Clapcote SJ, Gurrieri F, Goldstein DB, Jóhannesson SH, Mikati MA, Neville B, Nicole S, Ozelius LJ, Poulsen H, Schyns T, Sweadner KJ, van den Maagdenberg A, Vilsen B; ATP1A3 Working Group.

Lancet Neurol. 2014 May;13(5):503-14. doi: 10.1016/S1474-4422(14)70011-0. Review.

PMID:
24739246
[PubMed - indexed for MEDLINE]
6.

Asystole in alternating hemiplegia with de novo ATP1A3 mutation.

Novy J, McWilliams E, Sisodiya SM.

Eur J Med Genet. 2014 Jan;57(1):37-9. doi: 10.1016/j.ejmg.2013.11.003. Epub 2013 Nov 28.

PMID:
24291144
[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]
Free Article
8.

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.

PMID:
24803225
[PubMed - in process]
Free PMC Article
9.

[Alternating hemiplegia of childhood: ATP1A3 gene analysis in 16 patients].

Ulate-Campos A, Fons C, Campistol J, Martorell L, Cancho-Candela R, Eiris J, López-Laso E, Pineda M, Sans A, Velázquez R.

Med Clin (Barc). 2014 Jul 7;143(1):25-8. doi: 10.1016/j.medcli.2014.01.036. Epub 2014 Apr 24. Spanish.

PMID:
24768197
[PubMed - in process]
10.

Intermediate form between alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism.

Sasaki M, Ishii A, Saito Y, Hirose S.

Mov Disord. 2014 Jan;29(1):153-4. doi: 10.1002/mds.25659. Epub 2013 Sep 30. No abstract available.

PMID:
24123283
[PubMed - in process]
11.

Rapid-onset dystonia-parkinsonism.

Geyer HL, Bressman SB.

Handb Clin Neurol. 2011;100:559-62. doi: 10.1016/B978-0-444-52014-2.00040-9. Review.

PMID:
21496607
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
13.

Clinical and genetic analysis in alternating hemiplegia of childhood: Ten new patients from Southern Europe.

Vila-Pueyo M, Pons R, Raspall-Chaure M, Marcé-Grau A, Carreño O, Sintas C, Cormand B, Pineda-Marfà M, Macaya A.

J Neurol Sci. 2014 Sep 15;344(1-2):37-42. doi: 10.1016/j.jns.2014.06.014. Epub 2014 Jun 17.

PMID:
24996492
[PubMed - in process]
14.

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]
15.

Infantile hypotonia and paroxysmal dystonia: a variant of alternating hemiplegia of childhood?

Andermann F, Ohtahara S, Andermann E, Camfield P, Kobayashi K.

Mov Disord. 1994 Mar;9(2):227-9.

PMID:
8196689
[PubMed - indexed for MEDLINE]
16.

[Rapid-onset dystonia-parkinsonism].

Zaremba J.

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

PMID:
16512624
[PubMed - indexed for MEDLINE]
17.

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.

PMID:
15897512
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

[Rapid-onset dystonia-parkinsonism: sporadic form].

Romero-López J, Moreno-Carretero MJ, Escriche-Jaime D, Corredera-García E.

Rev Neurol. 2008 Dec 16-31;47(12):638-40. Spanish.

PMID:
19085880
[PubMed - indexed for MEDLINE]
Free Article
19.

Paying the price at the pump: dystonia from mutations in a Na+/K+ -ATPase.

Cannon SC.

Neuron. 2004 Jul 22;43(2):153-4.

PMID:
15260948
[PubMed - indexed for MEDLINE]
Free Article
20.

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

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk