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Items: 14

1.

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.

2.

[A childhood-onset rapid-onset dystonia parkinsonism family with ATP1A3 gene mutation and literatures review].

Zhang CL, Yin F, He F, Gai N, Shi ZQ, Peng J.

Zhonghua Er Ke Za Zhi. 2017 Apr 2;55(4):288-293. doi: 10.3760/cma.j.issn.0578-1310.2017.04.011. Review. Chinese.

PMID:
28441826
3.

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.

4.

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. Review.

5.

ATP1A3-Related Neurologic Disorders.

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

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mefford HC, Stephens K, Amemiya A, Ledbetter N, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2008 Feb 7 [updated 2014 Nov 6].

6.

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
7.

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
8.

Migraine- and dystonia-related disease-mutations of Na+/K+-ATPases: relevance of behavioral studies in mice to disease symptoms and neurological manifestations in humans.

Bøttger P, Doğanlı C, Lykke-Hartmann K.

Neurosci Biobehav Rev. 2012 Feb;36(2):855-71. doi: 10.1016/j.neubiorev.2011.10.005. Epub 2011 Nov 2. Review.

PMID:
22067897
9.

Rare causes of dystonia parkinsonism.

Schneider SA, Bhatia KP.

Curr Neurol Neurosci Rep. 2010 Nov;10(6):431-9. doi: 10.1007/s11910-010-0136-0. Review.

PMID:
20694531
10.

Mental dysfunctions in dystonia-plus syndromes.

Sunga MA, Rosales RL.

J Parkinsons Dis. 2014;4(2):161-7. doi: 10.3233/JPD-130283. Review.

PMID:
24796232
11.

Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases.

LeDoux MS, Xiao J, Rudzińska M, Bastian RW, Wszolek ZK, Van Gerpen JA, Puschmann A, Momčilović D, Vemula SR, Zhao Y.

Parkinsonism Relat Disord. 2012 Jun;18(5):414-25. doi: 10.1016/j.parkreldis.2012.02.001. Epub 2012 Feb 28. Review.

12.

Isolated and combined dystonia syndromes - an update on new genes and their phenotypes.

Balint B, Bhatia KP.

Eur J Neurol. 2015 Apr;22(4):610-7. doi: 10.1111/ene.12650. Epub 2015 Jan 29. Review.

PMID:
25643588
13.

[Rapid-onset dystonia-parkinsonism].

Zaremba J.

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

PMID:
16512624
14.

Alternative approaches to modeling hereditary dystonias.

Fremont R, Khodakhah K.

Neurotherapeutics. 2012 Apr;9(2):315-22. doi: 10.1007/s13311-012-0113-1. Review.

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