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Results: 1 to 20 of 54

1.

Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes.

Tezenas du Montcel S, Clot F, Vidailhet M, Roze E, Damier P, Jedynak CP, Camuzat A, Lagueny A, Vercueil L, Doummar D, Guyant-Maréchal L, Houeto JL, Ponsot G, Thobois S, Cournelle MA, Durr A, Durif F, Echenne B, Hannequin D, Tranchant C, Brice A; French Dystonia Network.

J Med Genet. 2006 May;43(5):394-400. Epub 2005 Oct 14.

PMID:
16227522
[PubMed - indexed for MEDLINE]
Free PMC Article
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.

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
[PubMed - indexed for MEDLINE]
4.

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
5.

[Myoclonic dystonia].

Cassim F.

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

PMID:
14615678
[PubMed - indexed for MEDLINE]
6.

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]
7.

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
[PubMed - indexed for MEDLINE]
8.

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
9.

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]
10.

[Genetics of dystonia].

Klein C, Kann M, Kis B, Pramstaller PP, Breakefield XO, Ozelius LJ, Vieregge P.

Nervenarzt. 2000 Jun;71(6):431-41. Review. German.

PMID:
10919137
[PubMed - indexed for MEDLINE]
11.

Classification and genetics of dystonia.

de Carvalho Aguiar PM, Ozelius LJ.

Lancet Neurol. 2002 Sep;1(5):316-25. Review.

PMID:
12849429
[PubMed - indexed for MEDLINE]
12.

Dystonia: phenotypes and genotypes.

Bressman SB.

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

PMID:
14628853
[PubMed - indexed for MEDLINE]
13.

Genetic variation in ICF syndrome: evidence for genetic heterogeneity.

Wijmenga C, Hansen RS, Gimelli G, Björck EJ, Davies EG, Valentine D, Belohradsky BH, van Dongen JJ, Smeets DF, van den Heuvel LP, Luyten JA, Strengman E, Weemaes C, Pearson PL.

Hum Mutat. 2000 Dec;16(6):509-17. Review.

PMID:
11102980
[PubMed - indexed for MEDLINE]
14.

Overview of primary monogenic dystonia.

Spatola M, Wider C.

Parkinsonism Relat Disord. 2012 Jan;18 Suppl 1:S158-61. doi: 10.1016/S1353-8020(11)70049-9. Review.

PMID:
22166420
[PubMed - indexed for MEDLINE]
15.

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
16.

Unusual phenotypes in DYT1 dystonia: a report of five cases and a review of the literature.

Edwards M, Wood N, Bhatia K.

Mov Disord. 2003 Jun;18(6):706-11. Review.

PMID:
12784278
[PubMed - indexed for MEDLINE]
17.

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]
18.

[Hereditary dystonias].

Hjermind LE, Sørensen SA, Werdelin LM.

Ugeskr Laeger. 2000 Sep 18;162(38):5066-70. Review. Danish.

PMID:
11014135
[PubMed - indexed for MEDLINE]
19.

Essential myoclonus and myoclonic dystonia.

Quinn NP.

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

PMID:
8684380
[PubMed - indexed for MEDLINE]
20.

Movement disorders in multiple sclerosis.

Tranchant C, Bhatia KP, Marsden CD.

Mov Disord. 1995 Jul;10(4):418-23. Review.

PMID:
7565820
[PubMed - indexed for MEDLINE]

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