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Results: 1 to 20 of 47

1.

Dystonia: an update on phenomenology, classification, pathogenesis and treatment.

Balint B, Bhatia KP.

Curr Opin Neurol. 2014 Aug;27(4):468-76. doi: 10.1097/WCO.0000000000000114. Review.

PMID:
24978640
2.

ATP1A3 mutations and genotype-phenotype correlation of alternating hemiplegia of childhood in Chinese patients.

Yang X, Gao H, Zhang J, Xu X, Liu X, Wu X, Wei L, Zhang Y.

PLoS One. 2014 May 19;9(5):e97274. doi: 10.1371/journal.pone.0097274. eCollection 2014.

3.

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.

4.

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
5.

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
6.

Alternating Hemiplegia of Childhood mutations have a differential effect on Na(+),K(+)-ATPase activity and ouabain binding.

Weigand KM, Messchaert M, Swarts HG, Russel FG, Koenderink JB.

Biochim Biophys Acta. 2014 Jul;1842(7):1010-6. doi: 10.1016/j.bbadis.2014.03.002. Epub 2014 Mar 12.

PMID:
24631656
7.

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
8.

Alternating hemiplegia of childhood with a de novo mutation in ATP1A3 and changes in SLC2A1 responsive to a ketogenic diet.

Ulate-Campos A, Fons C, Artuch R, Castejón E, Martorell L, Ozelius L, Pascual J, Campistol J.

Pediatr Neurol. 2014 Apr;50(4):377-9. doi: 10.1016/j.pediatrneurol.2013.11.017. Epub 2013 Dec 4.

9.

A novel recurrent mutation in ATP1A3 causes CAPOS syndrome.

Demos MK, van Karnebeek CD, Ross CJ, Adam S, Shen Y, Zhan SH, Shyr C, Horvath G, Suri M, Fryer A, Jones SJ, Friedman JM; FORGE Canada Consortium.

Orphanet J Rare Dis. 2014 Jan 28;9:15. doi: 10.1186/1750-1172-9-15.

10.

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.

11.

Genotype-phenotype correlations in alternating hemiplegia of childhood.

Sasaki M, Ishii A, Saito Y, Morisada N, Iijima K, Takada S, Araki A, Tanabe Y, Arai H, Yamashita S, Ohashi T, Oda Y, Ichiseki H, Hirabayashi S, Yasuhara A, Kawawaki H, Kimura S, Shimono M, Narumiya S, Suzuki M, Yoshida T, Oyazato Y, Tsuneishi S, Ozasa S, Yokochi K, Dejima S, Akiyama T, Kishi N, Kira R, Ikeda T, Oguni H, Zhang B, Tsuji S, Hirose S.

Neurology. 2014 Feb 11;82(6):482-90. doi: 10.1212/WNL.0000000000000102. Epub 2014 Jan 15.

PMID:
24431296
12.

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
13.

Genetics in dystonia.

Klein C.

Parkinsonism Relat Disord. 2014 Jan;20 Suppl 1:S137-42. doi: 10.1016/S1353-8020(13)70033-6. Review.

PMID:
24262166
14.

Genetics in dystonia: an update.

Fuchs T, Ozelius LJ.

Curr Neurol Neurosci Rep. 2013 Dec;13(12):410. doi: 10.1007/s11910-013-0410-z. Review.

15.

Alternating hemiplegia of childhood in Denmark: clinical manifestations and ATP1A3 mutation status.

Hoei-Hansen CE, Dali CÍ, Lyngbye TJ, Duno M, Uldall P.

Eur J Paediatr Neurol. 2014 Jan;18(1):50-4. doi: 10.1016/j.ejpn.2013.08.007. Epub 2013 Sep 25.

PMID:
24100174
16.

Dystonia.

Morgante F, Klein C.

Continuum (Minneap Minn). 2013 Oct;19(5 Movement Disorders):1225-41. doi: 10.1212/01.CON.0000436154.08791.67. Review.

PMID:
24092288
17.

Episodic movement disorders: from phenotype to genotype and back.

Brockmann K.

Curr Neurol Neurosci Rep. 2013 Oct;13(10):379. doi: 10.1007/s11910-013-0379-7. Review.

PMID:
23963607
18.

Genetics of dystonia: what's known? What's new? What's next?

Lohmann K, Klein C.

Mov Disord. 2013 Jun 15;28(7):899-905. doi: 10.1002/mds.25536. Review.

PMID:
23893446
19.

The genetics of dystonia: new twists in an old tale.

Charlesworth G, Bhatia KP, Wood NW.

Brain. 2013 Jul;136(Pt 7):2017-37. doi: 10.1093/brain/awt138. Epub 2013 Jun 17. Review.

20.

Functional studies and proteomics in platelets and fibroblasts reveal a lysosomal defect with increased cathepsin-dependent apoptosis in ATP1A3 defective alternating hemiplegia of childhood.

Di Michele M, Goubau C, Waelkens E, Thys C, De Vos R, Overbergh L, Schyns T, Buyse G, Casaer P, Van Geet C, Freson K.

J Proteomics. 2013 Jun 28;86:53-69. doi: 10.1016/j.jprot.2013.05.005. Epub 2013 May 13.

PMID:
23681173
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