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Results: 18

1.

Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype.

Asmus F, Zimprich A, Tezenas Du Montcel S, Kabus C, Deuschl G, Kupsch A, Ziemann U, Castro M, Kühn AA, Strom TM, Vidailhet M, Bhatia KP, Dürr A, Wood NW, Brice A, Gasser T.

Ann Neurol. 2002 Oct;52(4):489-92.

PMID:
12325078
[PubMed - indexed for MEDLINE]
2.

Myoclonus-dystonia syndrome.

Nardocci N.

Handb Clin Neurol. 2011;100:563-75. doi: 10.1016/B978-0-444-52014-2.00041-0. Review.

PMID:
21496608
[PubMed - indexed for MEDLINE]
3.

[Myoclonic dystonia].

Cassim F.

Rev Neurol (Paris). 2003 Oct;159(10 Pt 1):892-9. Review. French.

PMID:
14615678
[PubMed - indexed for MEDLINE]
4.

Psychiatric disorders, myoclonus dystonia, and the epsilon-sarcoglycan gene: a systematic review.

Peall KJ, Waite AJ, Blake DJ, Owen MJ, Morris HR.

Mov Disord. 2011 Aug 15;26(10):1939-42. doi: 10.1002/mds.23791. Epub 2011 Jun 28. Review.

PMID:
21713999
[PubMed - indexed for MEDLINE]
5.

The genetics of primary dystonias and related disorders.

Németh AH.

Brain. 2002 Apr;125(Pt 4):695-721. Review.

PMID:
11912106
[PubMed - indexed for MEDLINE]
Free Article
6.

Dystonia: phenotypes and genotypes.

Bressman SB.

Rev Neurol (Paris). 2003 Oct;159(10 Pt 1):849-56. Review.

PMID:
14628853
[PubMed - indexed for MEDLINE]
7.

The monogenic primary dystonias.

Müller U.

Brain. 2009 Aug;132(Pt 8):2005-25. doi: 10.1093/brain/awp172. Epub 2009 Jul 3. Review.

PMID:
19578124
[PubMed - indexed for MEDLINE]
Free Article
8.

Genetics of dystonia.

Fuchs T, Ozelius LJ.

Semin Neurol. 2011 Nov;31(5):441-8. doi: 10.1055/s-0031-1299783. Epub 2012 Jan 21. Review.

PMID:
22266882
[PubMed - indexed for MEDLINE]
9.

[Pathophysiology of involuntary movements--dystonia and myoclonus. Symptomatological view].

Kachi T.

Rinsho Shinkeigaku. 1995 Dec;35(12):1381-3. Review. Japanese.

PMID:
8752404
[PubMed - indexed for MEDLINE]
10.

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.

PMID:
22377579
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Myoclonus-dystonia: an update.

Kinugawa K, Vidailhet M, Clot F, Apartis E, Grabli D, Roze E.

Mov Disord. 2009 Mar 15;24(4):479-89. doi: 10.1002/mds.22425. Review.

PMID:
19117361
[PubMed - indexed for MEDLINE]
12.

Myoclonus and dystonia in cerebrotendinous xanthomatosis.

Lagarde J, Roze E, Apartis E, Pothalil D, Sedel F, Couvert P, Vidailhet M, Degos B.

Mov Disord. 2012 Dec;27(14):1805-10. doi: 10.1002/mds.25206. Epub 2012 Oct 31. Review.

PMID:
23115103
[PubMed - indexed for MEDLINE]
13.

Essential myoclonus and myoclonic dystonia.

Quinn NP.

Mov Disord. 1996 Mar;11(2):119-24. Review.

PMID:
8684380
[PubMed - indexed for MEDLINE]
14.

Inherited myoclonus-dystonia syndrome.

Gasser T.

Adv Neurol. 1998;78:325-34. Review. No abstract available.

PMID:
9750929
[PubMed - indexed for MEDLINE]
15.

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.

PMID:
22924536
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

[Gene errors of dilated cardiomyopathy].

Heliö T, Kaartinen M, Kärkkäinen S, Peuhkurinen K.

Duodecim. 2001;117(18):1797-800. Review. Finnish. No abstract available.

PMID:
12181975
[PubMed - indexed for MEDLINE]
17.

Inherited myoclonus-dystonia.

Saunders-Pullman R, Ozelius L, Bressman SB.

Adv Neurol. 2002;89:185-91. Review. No abstract available.

PMID:
11968443
[PubMed - indexed for MEDLINE]
18.

[Essential myoclonus (hereditary essential myoclonus)].

Inazuki G.

Ryoikibetsu Shokogun Shirizu. 1999;(27 Pt 2):197-9. Review. Japanese. No abstract available.

PMID:
10434629
[PubMed - indexed for MEDLINE]

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