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Items: 18

1.

The prevalence of PRKRA mutations in idiopathic dystonia.

Dos Santos CO, da Silva-Júnior FP, Puga RD, Barbosa ER, Azevedo Silva SMC, Borges V, Limongi JCP, Rocha MSG, Ferraz HB, de Carvalho Aguiar P.

Parkinsonism Relat Disord. 2018 Mar;48:93-96. doi: 10.1016/j.parkreldis.2017.12.015. Epub 2017 Dec 13.

PMID:
29279192
2.

Functional Genomic Analyses of Mendelian and Sporadic Disease Identify Impaired eIF2α Signaling as a Generalizable Mechanism for Dystonia.

Rittiner JE, Caffall ZF, Hernández-Martinez R, Sanderson SM, Pearson JL, Tsukayama KK, Liu AY, Xiao C, Tracy S, Shipman MK, Hickey P, Johnson J, Scott B, Stacy M, Saunders-Pullman R, Bressman S, Simonyan K, Sharma N, Ozelius LJ, Cirulli ET, Calakos N.

Neuron. 2016 Dec 21;92(6):1238-1251. doi: 10.1016/j.neuron.2016.11.012. Epub 2016 Dec 8.

3.

Thiamine and dystonia 16.

Costantini A, Trevi E, Pala MI, Fancellu R.

BMJ Case Rep. 2016 Jul 22;2016. pii: bcr-2016-216721. doi: 10.1136/bcr-2016-216721.

4.

PRKRA Mutation Causing Early-Onset Generalized Dystonia-Parkinsonism (DYT16) in an Italian Family.

Quadri M, Olgiati S, Sensi M, Gualandi F, Groppo E, Rispoli V, Graafland J, Breedveld GJ, Fabbrini G, Berardelli A, Bonifati V.

Mov Disord. 2016 May;31(5):765-7. doi: 10.1002/mds.26583. Epub 2016 Mar 17. No abstract available.

PMID:
26990861
5.

Altered activation of protein kinase PKR and enhanced apoptosis in dystonia cells carrying a mutation in PKR activator protein PACT.

Vaughn LS, Bragg DC, Sharma N, Camargos S, Cardoso F, Patel RC.

J Biol Chem. 2015 Sep 11;290(37):22543-57. doi: 10.1074/jbc.M115.669408. Epub 2015 Jul 31.

6.

Rare inborn errors of metabolism with movement disorders: a case study to evaluate the impact upon quality of life and adaptive functioning.

Eggink H, Kuiper A, Peall KJ, Contarino MF, Bosch AM, Post B, Sival DA, Tijssen MA, de Koning TJ.

Orphanet J Rare Dis. 2014 Nov 26;9:177. doi: 10.1186/s13023-014-0177-6.

7.

Novel DYT11 gene mutation in patients without dopaminergic deficit (SWEDD) screened for dystonia.

Cilia R, Reale C, Castagna A, Nasca A, Muzi-Falconi M, Barzaghi C, Marzegan A, Granata M, Marotta G, Sacilotto G, Vallauri D, Pezzoli G, Goldwurm S, Garavaglia B.

Neurology. 2014 Sep 23;83(13):1155-62. doi: 10.1212/WNL.0000000000000821. Epub 2014 Aug 22.

PMID:
25150291
8.

DYT16 revisited: exome sequencing identifies PRKRA mutations in a European dystonia family.

Zech M, Castrop F, Schormair B, Jochim A, Wieland T, Gross N, Lichtner P, Peters A, Gieger C, Meitinger T, Strom TM, Oexle K, Haslinger B, Winkelmann J.

Mov Disord. 2014 Oct;29(12):1504-10. doi: 10.1002/mds.25981. Epub 2014 Aug 20.

PMID:
25142429
9.

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
10.

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
11.

DYT16: the original cases.

Camargos S, Lees AJ, Singleton A, Cardoso F.

J Neurol Neurosurg Psychiatry. 2012 Oct;83(10):1012-4. doi: 10.1136/jnnp-2012-302841. Epub 2012 Jul 28.

12.

Whispering dysphonia in an Australian family (DYT4): a clinical and genetic reappraisal.

Wilcox RA, Winkler S, Lohmann K, Klein C.

Mov Disord. 2011 Nov;26(13):2404-8. doi: 10.1002/mds.23866. Epub 2011 Sep 28.

PMID:
21956287
13.

Molecular pathways in dystonia.

Bragg DC, Armata IA, Nery FC, Breakefield XO, Sharma N.

Neurobiol Dis. 2011 May;42(2):136-47. doi: 10.1016/j.nbd.2010.11.015. Epub 2010 Dec 4. Review.

14.

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
15.

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
16.

Genetics of primary torsion dystonia.

Brüggemann N, Klein C.

Curr Neurol Neurosci Rep. 2010 May;10(3):199-206. doi: 10.1007/s11910-010-0107-5. Review.

PMID:
20425035
17.

Systematic mutation analysis of seven dystonia genes in complex regional pain syndrome with fixed dystonia.

Gosso MF, de Rooij AM, Alsina-Sanchis E, Kamphorst JT, Marinus J, van Hilten JJ, van den Maagdenberg AM.

J Neurol. 2010 May;257(5):820-4. doi: 10.1007/s00415-009-5426-6. Epub 2010 Jan 12.

PMID:
20066431
18.

Early onset primary dystonia.

Zorzi G, Zibordi F, Garavaglia B, Nardocci N.

Eur J Paediatr Neurol. 2009 Nov;13(6):488-92. doi: 10.1016/j.ejpn.2008.12.001. Epub 2009 Jan 20. Review.

PMID:
19157930

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