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Results: 1 to 20 of 93

1.

A point mutation in ε-sarcoglycan induces inherited myoclonus dystonia syndrome in a Chinese family.

Yan H, Guan X, Wang L, Tan J, Wang G, An Y, Zhang Y.

Int J Clin Exp Med. 2013 Apr 12;6(4):289-93. Print 2013.

PMID:
23641306
[PubMed]
Free PMC Article
2.

SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA.

Esapa CT, Waite A, Locke M, Benson MA, Kraus M, McIlhinney RA, Sillitoe RV, Beesley PW, Blake DJ.

Hum Mol Genet. 2007 Feb 1;16(3):327-42. Epub 2007 Jan 2.

PMID:
17200151
[PubMed - indexed for MEDLINE]
Free Article
3.

A novel mutation of the epsilon-sarcoglycan gene in a Chinese family with myoclonus-dystonia syndrome.

Chen XP, Zhang YW, Zhang SS, Chen Q, Burgunder JM, Wu SH, Yang Y, Luo ZM, Shang HF.

Mov Disord. 2008 Jul 30;23(10):1472-5. doi: 10.1002/mds.22008.

PMID:
18581468
[PubMed - indexed for MEDLINE]
4.

Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome.

Zimprich A, Grabowski M, Asmus F, Naumann M, Berg D, Bertram M, Scheidtmann K, Kern P, Winkelmann J, Müller-Myhsok B, Riedel L, Bauer M, Müller T, Castro M, Meitinger T, Strom TM, Gasser T.

Nat Genet. 2001 Sep;29(1):66-9.

PMID:
11528394
[PubMed - indexed for MEDLINE]
5.

Myoclonus-dystonia and epilepsy in a family with a novel epsilon-sarcoglycan mutation.

Haugarvoll K, Tzoulis C, Tran GT, Karlsen B, Engelsen BA, Knappskog PM, Bindoff LA.

J Neurol. 2014 Feb;261(2):358-62. doi: 10.1007/s00415-013-7203-9. Epub 2013 Dec 3.

PMID:
24297365
[PubMed - in process]
6.

Unusual familial presentation of epsilon-sarcoglycan gene mutation with falls and writer's cramp.

Koukouni V, Valente EM, Cordivari C, Bhatia KP, Quinn NP.

Mov Disord. 2008 Oct 15;23(13):1913-5. doi: 10.1002/mds.21935.

PMID:
18702114
[PubMed - indexed for MEDLINE]
7.

[Myoclonic dystonia].

Cassim F.

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

PMID:
14615678
[PubMed - indexed for MEDLINE]
8.

Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: evidence for genetic heterogeneity.

Valente EM, Misbahuddin A, Brancati F, Placzek MR, Garavaglia B, Salvi S, Nemeth A, Shaw-Smith C, Nardocci N, Bentivoglio AR, Berardelli A, Eleopra R, Dallapiccola B, Warner TT.

Mov Disord. 2003 Sep;18(9):1047-51.

PMID:
14502674
[PubMed - indexed for MEDLINE]
9.

Myoclonus-dystonia syndrome with severe depression is caused by an exon-skipping mutation in the epsilon-sarcoglycan gene.

Misbahuddin A, Placzek M, Lennox G, Taanman JW, Warner TT.

Mov Disord. 2007 Jun 15;22(8):1173-5.

PMID:
17230465
[PubMed - indexed for MEDLINE]
10.

Severe myoclonus-dystonia syndrome associated with a novel epsilon-sarcoglycan gene truncating mutation.

Maréchal L, Raux G, Dumanchin C, Lefebvre G, Deslandre E, Girard C, Campion D, Parain D, Frebourg T, Hannequin D.

Am J Med Genet B Neuropsychiatr Genet. 2003 May 15;119B(1):114-7.

PMID:
12707948
[PubMed - indexed for MEDLINE]
11.

Primary Myoclonus-Dystonia: A Diagnosis Often Missed in Children.

Ghosh D, Indulkar S.

J Child Neurol. 2013 Nov;28(11):1418-1422. Epub 2013 Jun 6.

PMID:
23748201
[PubMed - as supplied by publisher]
12.

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
13.

A gain-of-glycosylation mutation associated with myoclonus-dystonia syndrome affects trafficking and processing of mouse ε-sarcoglycan in the late secretory pathway.

Waite A, De Rosa MC, Brancaccio A, Blake DJ.

Hum Mutat. 2011 Nov;32(11):1246-58. doi: 10.1002/humu.21561. Epub 2011 Sep 15.

PMID:
21796726
[PubMed - indexed for MEDLINE]
14.

Pediatric writer's cramp in myoclonus-dystonia: maternal imprinting hides positive family history.

Gerrits MC, Foncke EM, Koelman JH, Tijssen MA.

Eur J Paediatr Neurol. 2009 Mar;13(2):178-80. doi: 10.1016/j.ejpn.2008.03.007. Epub 2008 Jun 20.

PMID:
18571946
[PubMed - indexed for MEDLINE]
15.

A novel mutation in the epsilon-sarcoglycan gene causing myoclonus-dystonia syndrome.

Hjermind LE, Werdelin LM, Eiberg H, Krag-Olsen B, Dupont E, Sørensen SA.

Neurology. 2003 May 13;60(9):1536-9.

PMID:
12743249
[PubMed - indexed for MEDLINE]
16.

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]
17.

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]
18.

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]
19.

"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]
20.

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

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