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Results: 1 to 20 of 453

1.

Myoclonus-dystonia: clinical and genetic evaluation of a large cohort.

Ritz K, Gerrits MC, Foncke EM, van Ruissen F, van der Linden C, Vergouwen MD, Bloem BR, Vandenberghe W, Crols R, Speelman JD, Baas F, Tijssen MA.

J Neurol Neurosurg Psychiatry. 2009 Jun;80(6):653-8. doi: 10.1136/jnnp.2008.162099. Epub 2008 Dec 9.

PMID:
19066193
[PubMed - indexed for MEDLINE]
2.

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
3.

Myoclonus-dystonia: significance of large SGCE deletions.

Grünewald A, Djarmati A, Lohmann-Hedrich K, Farrell K, Zeller JA, Allert N, Papengut F, Petersen B, Fung V, Sue CM, O'Sullivan D, Mahant N, Kupsch A, Chuang RS, Wiegers K, Pawlack H, Hagenah J, Ozelius LJ, Stephani U, Schuit R, Lang AE, Volkmann J, Münchau A, Klein C.

Hum Mutat. 2008 Feb;29(2):331-2. doi: 10.1002/humu.9521.

PMID:
18205193
[PubMed - indexed for MEDLINE]
4.

Lack of mutations in the epsilon-sarcoglycan gene in patients with different subtypes of primary dystonias.

Grundmann K, Laubis-Herrmann U, Dressler D, Vollmer-Haase J, Bauer P, Stuhrmann M, Schulte T, Schöls L, Topka H, Riess O.

Mov Disord. 2004 Nov;19(11):1294-7.

PMID:
15390016
[PubMed - indexed for MEDLINE]
5.

"Jerky" dystonia in children: spectrum of phenotypes and genetic testing.

Asmus F, Langseth A, Doherty E, Nestor T, Munz M, Gasser T, Lynch T, King MD.

Mov Disord. 2009 Apr 15;24(5):702-9. doi: 10.1002/mds.22426.

PMID:
19117362
[PubMed - indexed for MEDLINE]
6.

Genetic heterogeneity in ten families with myoclonus-dystonia.

Schüle B, Kock N, Svetel M, Dragasevic N, Hedrich K, De Carvalho Aguiar P, Liu L, Kabakci K, Garrels J, Meyer EM, Berisavac I, Schwinger E, Kramer PL, Ozelius LJ, Klein C, Kostic V.

J Neurol Neurosurg Psychiatry. 2004 Aug;75(8):1181-5.

PMID:
15258227
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Large deletions account for an increasing number of mutations in SGCE.

Han F, Racacho L, Yang H, Read T, Suchowersky O, Lang AE, Grimes DA, Bulman DE.

Mov Disord. 2008 Feb 15;23(3):456-60.

PMID:
18098280
[PubMed - indexed for MEDLINE]
8.

Phenotype-genotype correlation in Dutch patients with myoclonus-dystonia.

Gerrits MC, Foncke EM, de Haan R, Hedrich K, van de Leemput YL, Baas F, Ozelius LJ, Speelman JD, Klein C, Tijssen MA.

Neurology. 2006 Mar 14;66(5):759-61. Erratum in: Neurology. 2007 Mar 13;68(11):879.

PMID:
16534121
[PubMed - indexed for MEDLINE]
9.

Myoclonus-dystonia due to genomic deletions in the epsilon-sarcoglycan gene.

Asmus F, Salih F, Hjermind LE, Ostergaard K, Munz M, Kühn AA, Dupont E, Kupsch A, Gasser T.

Ann Neurol. 2005 Nov;58(5):792-7.

PMID:
16240355
[PubMed - indexed for MEDLINE]
10.

Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia.

Müller B, Hedrich K, Kock N, Dragasevic N, Svetel M, Garrels J, Landt O, Nitschke M, Pramstaller PP, Reik W, Schwinger E, Sperner J, Ozelius L, Kostic V, Klein C.

Am J Hum Genet. 2002 Dec;71(6):1303-11. Epub 2002 Nov 20.

PMID:
12444570
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Myoclonus-dystonia, obsessive-compulsive disorder, and alcohol dependence in SGCE mutation carriers.

Hess CW, Raymond D, Aguiar Pde C, Frucht S, Shriberg J, Heiman GA, Kurlan R, Klein C, Bressman SB, Ozelius LJ, Saunders-Pullman R.

Neurology. 2007 Feb 13;68(7):522-4.

PMID:
17296918
[PubMed - indexed for MEDLINE]
12.

Clinical and genetic features of myoclonus-dystonia in 3 cases: a video presentation.

Kock N, Kasten M, Schüle B, Hedrich K, Wiegers K, Kabakci K, Hagenah J, Pramstaller PP, Nitschke MF, Münchau A, Sperner J, Klein C.

Mov Disord. 2004 Feb;19(2):231-4.

PMID:
14978685
[PubMed - indexed for MEDLINE]
13.

Clinical findings of a myoclonus-dystonia family with two distinct mutations.

Doheny D, Danisi F, Smith C, Morrison C, Velickovic M, De Leon D, Bressman SB, Leung J, Ozelius L, Klein C, Breakefield XO, Brin MF, Silverman JM.

Neurology. 2002 Oct 22;59(8):1244-6.

PMID:
12391355
[PubMed - indexed for MEDLINE]
14.

Myoclonus-dystonia: clinical and electrophysiologic pattern related to SGCE mutations.

Roze E, Apartis E, Clot F, Dorison N, Thobois S, Guyant-Marechal L, Tranchant C, Damier P, Doummar D, Bahi-Buisson N, André-Obadia N, Maltete D, Echaniz-Laguna A, Pereon Y, Beaugendre Y, Dupont S, De Greslan T, Jedynak CP, Ponsot G, Dussaule JC, Brice A, Dürr A, Vidailhet M.

Neurology. 2008 Mar 25;70(13):1010-6. doi: 10.1212/01.wnl.0000297516.98574.c0.

PMID:
18362280
[PubMed - indexed for MEDLINE]
15.

Phenotypic features of myoclonus-dystonia in three kindreds.

Doheny DO, Brin MF, Morrison CE, Smith CJ, Walker RH, Abbasi S, Müller B, Garrels J, Liu L, De Carvalho Aguiar P, Schilling K, Kramer P, De Leon D, Raymond D, Saunders-Pullman R, Klein C, Bressman SB, Schmand B, Tijssen MA, Ozelius LJ, Silverman JM.

Neurology. 2002 Oct 22;59(8):1187-96.

PMID:
12391346
[PubMed - indexed for MEDLINE]
16.

Genomic deletion size at the epsilon-sarcoglycan locus determines the clinical phenotype.

Asmus F, Hjermind LE, Dupont E, Wagenstaller J, Haberlandt E, Munz M, Strom TM, Gasser T.

Brain. 2007 Oct;130(Pt 10):2736-45.

PMID:
17898012
[PubMed - indexed for MEDLINE]
Free Article
17.

The epsilon-sarcoglycan gene in myoclonic syndromes.

Valente EM, Edwards MJ, Mir P, DiGiorgio A, Salvi S, Davis M, Russo N, Bozi M, Kim HT, Pennisi G, Quinn N, Dallapiccola B, Bhatia KP.

Neurology. 2005 Feb 22;64(4):737-9.

PMID:
15728306
[PubMed - indexed for MEDLINE]
18.

Inherited myoclonus-dystonia and epilepsy: further evidence of an association?

O'Riordan S, Ozelius LJ, de Carvalho Aguiar P, Hutchinson M, King M, Lynch T.

Mov Disord. 2004 Dec;19(12):1456-9.

PMID:
15389977
[PubMed - indexed for MEDLINE]
19.

Mutations in the epsilon-sarcoglycan gene found to be uncommon in seven myoclonus-dystonia families.

Han F, Lang AE, Racacho L, Bulman DE, Grimes DA.

Neurology. 2003 Jul 22;61(2):244-6.

PMID:
12874409
[PubMed - indexed for MEDLINE]
20.

Clinical differentiation of genetically proven benign hereditary chorea and myoclonus-dystonia.

Asmus F, Devlin A, Munz M, Zimprich A, Gasser T, Chinnery PF.

Mov Disord. 2007 Oct 31;22(14):2104-9.

PMID:
17702043
[PubMed - indexed for MEDLINE]

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