Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 258

1.

Paroxysmal non-kinesigenic dyskinesia caused by the mutation of MR-1 in a large Polish kindred.

Friedman A, Zakrzewska-Pniewska B, Domitrz I, Lee HY, Ptacek L, Kwiecinski H.

Eur Neurol. 2009;61(1):39-41. doi: 10.1159/000165348. Epub 2008 Oct 24.

PMID:
18948699
2.

Paroxysmal non-kinesigenic dyskinesia due to a PNKD recurrent mutation: report of two Southern European families.

Pons R, Cuenca-León E, Miravet E, Pons M, Xaidara A, Youroukos S, Macaya A.

Eur J Paediatr Neurol. 2012 Jan;16(1):86-9. doi: 10.1016/j.ejpn.2011.09.008. Epub 2011 Oct 1.

PMID:
21962874
3.

Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia.

Bruno MK, Lee HY, Auburger GW, Friedman A, Nielsen JE, Lang AE, Bertini E, Van Bogaert P, Averyanov Y, Hallett M, Gwinn-Hardy K, Sorenson B, Pandolfo M, Kwiecinski H, Servidei S, Fu YH, Ptácek L.

Neurology. 2007 May 22;68(21):1782-9.

PMID:
17515540
4.

Paroxysmal kinesigenic dyskinesia and generalized seizures: clinical and genetic analysis in a Spanish pedigree.

Cuenca-Leon E, Cormand B, Thomson T, Macaya A.

Neuropediatrics. 2002 Dec;33(6):288-93.

PMID:
12571782
5.

A family with paroxysmal nonkinesigenic dyskinesia: genetic and treatment issues.

Szczałuba K, Jurek M, Szczepanik E, Friedman A, Milewski M, Bal J, Mazurczak T.

Pediatr Neurol. 2009 Aug;41(2):135-8. doi: 10.1016/j.pediatrneurol.2009.02.013.

PMID:
19589464
6.

The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway.

Lee HY, Xu Y, Huang Y, Ahn AH, Auburger GW, Pandolfo M, Kwiecinski H, Grimes DA, Lang AE, Nielsen JE, Averyanov Y, Servidei S, Friedman A, Van Bogaert P, Abramowicz MJ, Bruno MK, Sorensen BF, Tang L, Fu YH, Ptácek LJ.

Hum Mol Genet. 2004 Dec 15;13(24):3161-70. Epub 2004 Oct 20.

PMID:
15496428
7.

Paroxysmal dystonic choreoathetosis linked to chromosome 2q: clinical analysis and proposed pathophysiology.

Fink JK, Hedera P, Mathay JG, Albin RL.

Neurology. 1997 Jul;49(1):177-83.

PMID:
9222187
8.

A case of familial paroxysmal nonkinesigenic dyskinesia due to mutation of the PNKD gene in Chinese Mainland.

Liang S, Yu X, Zhang S, Tai J.

Brain Res. 2015 Jan 21;1595:120-6. doi: 10.1016/j.brainres.2014.07.047. Epub 2014 Aug 5. Review.

PMID:
25107857
9.

Clinical and polygraphic study of familial paroxysmal kinesigenic dyskinesia with PRRT2 mutation.

Fabbri M, Marini C, Bisulli F, Di Vito L, Elia A, Guerrini R, Mei D, Tinuper P.

Epileptic Disord. 2013 Jun;15(2):123-7. doi: 10.1684/epd.2013.0569.

10.

Familial paroxysmal nonkinesigenic dyskinesia: clinical and genetic analysis of a Taiwanese family.

Yeh TH, Lin JJ, Lai SC, Wu-Chou YH, Chen AC, Yueh KC, Chen RS, Lu CS.

J Neurol Sci. 2012 Dec 15;323(1-2):80-4. doi: 10.1016/j.jns.2012.08.015. Epub 2012 Sep 8. Review.

PMID:
22967746
11.

Familial paroxysmal dystonic choreoathetosis: clinical findings in a large Japanese family and genetic linkage to 2q.

Matsuo H, Kamakura K, Saito M, Okano M, Nagase T, Tadano Y, Kaida K, Hirata A, Miyamoto N, Masaki T, Nakamura R, Motoyoshi K, Tanaka H, Tsuji S.

Arch Neurol. 1999 Jun;56(6):721-6.

PMID:
10369313
12.

Clinical characteristics of paroxysmal nonkinesigenic dyskinesia in Serbian family with Myofibrillogenesis regulator 1 gene mutation.

Stefanova E, Djarmati A, Momcilović D, Dragasević N, Svetel M, Klein C, Kostić VS.

Mov Disord. 2006 Nov;21(11):2010-5.

PMID:
16972263
13.
14.

Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria.

Bruno MK, Hallett M, Gwinn-Hardy K, Sorensen B, Considine E, Tucker S, Lynch DR, Mathews KD, Swoboda KJ, Harris J, Soong BW, Ashizawa T, Jankovic J, Renner D, Fu YH, Ptacek LJ.

Neurology. 2004 Dec 28;63(12):2280-7. Review.

PMID:
15623687
15.

Presence of alanine-to-valine substitutions in myofibrillogenesis regulator 1 in paroxysmal nonkinesigenic dyskinesia: confirmation in 2 kindreds.

Chen DH, Matsushita M, Rainier S, Meaney B, Tisch L, Feleke A, Wolff J, Lipe H, Fink J, Bird TD, Raskind WH.

Arch Neurol. 2005 Apr;62(4):597-600.

PMID:
15824259
16.

[A Japanese family with paroxysmal dystonic choreoathetosis].

Matsuo H, Okano M, Kaida K, Tadano Y, Kamakura K.

Rinsho Shinkeigaku. 1997 Oct;37(10):905-9. Japanese.

PMID:
9490902
17.

Paroxysmal dystonic choreoathetosis: clinical features and investigation of pathophysiology in a large family.

Jarman PR, Bhatia KP, Davie C, Heales SJ, Turjanski N, Taylor-Robinson SD, Marsden CD, Wood NW.

Mov Disord. 2000 Jul;15(4):648-57.

PMID:
10928574
18.

Dystonic attacks related to sleep and exercise.

Montagna P, Cirignotta F, Giovanardi Rossi P, Lugaresi E.

Eur Neurol. 1992;32(4):185-9.

PMID:
1505586
19.

Myofibrillogenesis regulator 1 gene (MR-1) mutation in an Omani family with paroxysmal nonkinesigenic dyskinesia.

Hempelmann A, Kumar S, Muralitharan S, Sander T.

Neurosci Lett. 2006 Jul 10;402(1-2):118-20. Epub 2006 Apr 24.

PMID:
16632198
20.

Genetic heterogeneity in paroxysmal nonkinesigenic dyskinesia.

Spacey SD, Adams PJ, Lam PC, Materek LA, Stoessl AJ, Snutch TP, Hsiung GY.

Neurology. 2006 May 23;66(10):1588-90.

PMID:
16717228

Supplemental Content

Support Center