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Items: 1 to 20 of 231

1.

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
2.

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
3.

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
4.

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.

5.

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
6.

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
7.

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
8.

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
9.

The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted.

Grabowski M, Zimprich A, Lorenz-Depiereux B, Kalscheuer V, Asmus F, Gasser T, Meitinger T, Strom TM.

Eur J Hum Genet. 2003 Feb;11(2):138-44.

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.

11.

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
12.

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
13.

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
14.

A novel SGCE gene mutation causing myoclonus dystonia in a family with an unusual phenotype.

Tedroff K, Rolfs A, Norling A.

Acta Paediatr. 2012 Feb;101(2):e90-2. doi: 10.1111/j.1651-2227.2011.02502.x. Epub 2011 Nov 17.

PMID:
22026499
15.

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
16.

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
17.

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
18.

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
19.

Myoclonus-dystonia due to maternal uniparental disomy.

Guettard E, Portnoi MF, Lohmann-Hedrich K, Keren B, Rossignol S, Winkler S, El Kamel I, Leu S, Apartis E, Vidailhet M, Klein C, Roze E.

Arch Neurol. 2008 Oct;65(10):1380-5. doi: 10.1001/archneur.65.10.1380.

PMID:
18852357
20.

Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations.

Klein C, Liu L, Doheny D, Kock N, Müller B, de Carvalho Aguiar P, Leung J, de Leon D, Bressman SB, Silverman J, Smith C, Danisi F, Morrison C, Walker RH, Velickovic M, Schwinger E, Kramer PL, Breakefield XO, Brin MF, Ozelius LJ.

Ann Neurol. 2002 Nov;52(5):675-9.

PMID:
12402271

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