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Items: 1 to 20 of 39

1.

Association Analysis of NALCN Polymorphisms rs1338041 and rs61973742 in a Chinese Population with Isolated Cervical Dystonia.

Zhou Q, Yang J, Cao B, Chen Y, Wei Q, Ou R, Song W, Zhao B, Wu Y, Shang H.

Parkinsons Dis. 2016;2016:9281790. doi: 10.1155/2016/9281790. Epub 2016 Apr 28.

2.

Homozygous mutation of VPS16 gene is responsible for an autosomal recessive adolescent-onset primary dystonia.

Cai X, Chen X, Wu S, Liu W, Zhang X, Zhang D, He S, Wang B, Zhang M, Zhang Y, Li Z, Luo K, Cai Z, Li W.

Sci Rep. 2016 May 12;6:25834. doi: 10.1038/srep25834.

3.

Motor phenotypes and molecular networks associated with germline deficiency of Ciz1.

Xiao J, Vemula SR, Xue Y, Khan MM, Kuruvilla KP, Marquez-Lona EM, Cobb MR, LeDoux MS.

Exp Neurol. 2016 Sep;283(Pt A):110-20. doi: 10.1016/j.expneurol.2016.05.006. Epub 2016 May 7.

PMID:
27163549
4.

Clinical and genetic features of cervical dystonia in a large multicenter cohort.

LeDoux MS, Vemula SR, Xiao J, Thompson MM, Perlmutter JS, Wright LJ, Jinnah HA, Rosen AR, Hedera P, Comella CL, Weissbach A, Junker J, Jankovic J, Barbano RL, Reich SG, Rodriguez RL, Berman BD, Chouinard S, Severt L, Agarwal P, Stover NP.

Neurol Genet. 2016 Apr 11;2(3):e69. doi: 10.1212/NXG.0000000000000069. eCollection 2016 Jun.

5.

The Role of Cdkn1A-Interacting Zinc Finger Protein 1 (CIZ1) in DNA Replication and Pathophysiology.

Liu Q, Niu N, Wada Y, Liu J.

Int J Mol Sci. 2016 Feb 5;17(2):212. doi: 10.3390/ijms17020212. Review.

6.

Dystonia: Five new things.

Berman BD, Jinnah HA.

Neurol Clin Pract. 2015 Jun;5(3):232-240.

7.

Recent developments in dystonia.

Jinnah HA, Teller JK, Galpern WR.

Curr Opin Neurol. 2015 Aug;28(4):400-5. doi: 10.1097/WCO.0000000000000213. Review.

8.

Pain Relief in Cervical Dystonia with Botulinum Toxin Treatment.

Camargo CH, Cattai L, Teive HA.

Toxins (Basel). 2015 Jun 23;7(6):2321-35. doi: 10.3390/toxins7062321. Review.

9.

Mutations in HPCA cause autosomal-recessive primary isolated dystonia.

Charlesworth G, Angelova PR, Bartolomé-Robledo F, Ryten M, Trabzuni D, Stamelou M, Abramov AY, Bhatia KP, Wood NW.

Am J Hum Genet. 2015 Apr 2;96(4):657-65. doi: 10.1016/j.ajhg.2015.02.007. Epub 2015 Mar 19.

10.

Inherited isolated dystonia: clinical genetics and gene function.

Dauer W.

Neurotherapeutics. 2014 Oct;11(4):807-16. doi: 10.1007/s13311-014-0297-7. Review.

11.

A headset method for measuring the visual temporal discrimination threshold in cervical dystonia.

Molloy A, Kimmich O, Williams L, Quinlivan B, Dabacan A, Fanning A, Butler JS, O'Riordan S, Reilly RB, Hutchinson M.

Tremor Other Hyperkinet Mov (N Y). 2014 Jul 18;4:249. doi: 10.7916/D8TD9VF6. eCollection 2014.

12.

Recent advances in the genetics of dystonia.

Xiao J, Vemula SR, LeDoux MS.

Curr Neurol Neurosci Rep. 2014 Aug;14(8):462. doi: 10.1007/s11910-014-0462-8. Review.

13.

A rare sequence variant in intron 1 of THAP1 is associated with primary dystonia.

Vemula SR, Xiao J, Zhao Y, Bastian RW, Perlmutter JS, Racette BA, Paniello RC, Wszolek ZK, Uitti RJ, Van Gerpen JA, Hedera P, Truong DD, Blitzer A, Rudzińska M, Momčilović D, Jinnah HA, Frei K, Pfeiffer RF, LeDoux MS.

Mol Genet Genomic Med. 2014 May;2(3):261-72. doi: 10.1002/mgg3.67. Epub 2014 Feb 11.

14.

Pathogenic variants in TUBB4A are not found in primary dystonia.

Vemula SR, Xiao J, Bastian RW, Momčilović D, Blitzer A, LeDoux MS.

Neurology. 2014 Apr 8;82(14):1227-30. doi: 10.1212/WNL.0000000000000294. Epub 2014 Mar 5.

15.

Mutations in GNAL: a novel cause of craniocervical dystonia.

Kumar KR, Lohmann K, Masuho I, Miyamoto R, Ferbert A, Lohnau T, Kasten M, Hagenah J, Brüggemann N, Graf J, Münchau A, Kostic VS, Sue CM, Domingo AR, Rosales RL, Lee LV, Freimann K, Westenberger A, Mukai Y, Kawarai T, Kaji R, Klein C, Martemyanov KA, Schmidt A.

JAMA Neurol. 2014 Apr;71(4):490-4. doi: 10.1001/jamaneurol.2013.4677.

16.

Heterogeneity in primary dystonia: lessons from THAP1, GNAL, and TOR1A in Amish-Mennonites.

Saunders-Pullman R, Fuchs T, San Luciano M, Raymond D, Brashear A, Ortega R, Deik A, Ozelius LJ, Bressman SB.

Mov Disord. 2014 May;29(6):812-8. doi: 10.1002/mds.25818. Epub 2014 Feb 5.

17.

Descriptive epidemiology of cervical dystonia.

Defazio G, Jankovic J, Giel JL, Papapetropoulos S.

Tremor Other Hyperkinet Mov (N Y). 2013 Nov 4;3. pii: tre-03-193-4374-2. doi: 10.7916/D80C4TGJ. eCollection 2013.

18.

Genomewide association study in cervical dystonia demonstrates possible association with sodium leak channel.

Mok KY, Schneider SA, Trabzuni D, Stamelou M, Edwards M, Kasperaviciute D, Pickering-Brown S, Silverdale M, Hardy J, Bhatia KP.

Mov Disord. 2014 Feb;29(2):245-51. doi: 10.1002/mds.25732. Epub 2013 Nov 13.

19.

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.

20.

Emerging common molecular pathways for primary dystonia.

Ledoux MS, Dauer WT, Warner TT.

Mov Disord. 2013 Jun 15;28(7):968-81. doi: 10.1002/mds.25547. Review.

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