Format
Sort by

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 98

1.

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
2.

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
3.

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
4.

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
5.

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
6.

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
7.

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
8.

Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence.

Ghezzi D, Viscomi C, Ferlini A, Gualandi F, Mereghetti P, DeGrandis D, Zeviani M.

Hum Mol Genet. 2009 Mar 15;18(6):1058-64. doi: 10.1093/hmg/ddn441. Epub 2009 Jan 5.

9.

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
10.

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
11.

The clinical and genetic heterogeneity of paroxysmal dyskinesias.

Gardiner AR, Jaffer F, Dale RC, Labrum R, Erro R, Meyer E, Xiromerisiou G, Stamelou M, Walker M, Kullmann D, Warner T, Jarman P, Hanna M, Kurian MA, Bhatia KP, Houlden H.

Brain. 2015 Dec;138(Pt 12):3567-80. doi: 10.1093/brain/awv310. Epub 2015 Nov 23. Review.

12.

A family with paroxysmal nonkinesigenic dyskinesias (PNKD): evidence of mitochondrial dysfunction.

Ghezzi D, Canavese C, Kovacevic G, Zamurovic D, Barzaghi C, Giorgi C, Zorzi G, Zeviani M, Pinton P, Garavaglia B, Nardocci N.

Eur J Paediatr Neurol. 2015 Jan;19(1):64-8. doi: 10.1016/j.ejpn.2014.10.003. Epub 2014 Oct 18.

PMID:
25453601
13.

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
14.

Dopamine dysregulation in a mouse model of paroxysmal nonkinesigenic dyskinesia.

Lee HY, Nakayama J, Xu Y, Fan X, Karouani M, Shen Y, Pothos EN, Hess EJ, Fu YH, Edwards RH, Ptácek LJ.

J Clin Invest. 2012 Feb;122(2):507-18. doi: 10.1172/JCI58470. Epub 2012 Jan 3.

15.

Familial Paroxysmal Nonkinesigenic Dyskinesia.

Spacey S, Adams P.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2005 Jun 24 [updated 2011 May 03].

16.

Spinocerebellar ataxias type 27 derived from a disruption of the fibroblast growth factor 14 gene with mimicking phenotype of paroxysmal non-kinesigenic dyskinesia.

Shimojima K, Okumura A, Natsume J, Aiba K, Kurahashi H, Kubota T, Yokochi K, Yamamoto T.

Brain Dev. 2012 Mar;34(3):230-3. doi: 10.1016/j.braindev.2011.04.014. Epub 2011 May 19.

PMID:
21600715
17.

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
18.

[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
19.

Phenotypic overlap among paroxysmal dyskinesia subtypes: Lesson from a family with PRRT2 gene mutation.

Wang K, Zhao X, Du Y, He F, Peng G, Luo B.

Brain Dev. 2013 Aug;35(7):664-6. doi: 10.1016/j.braindev.2012.07.018. Epub 2012 Aug 16.

PMID:
22902309
20.

A new family with paroxysmal exercise induced dystonia and migraine: a clinical and genetic study.

Münchau A, Valente EM, Shahidi GA, Eunson LH, Hanna MG, Quinn NP, Schapira AH, Wood NW, Bhatia KP.

J Neurol Neurosurg Psychiatry. 2000 May;68(5):609-14.

Items per page

Supplemental Content

Write to the Help Desk