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Items: 1 to 20 of 481

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.

2.

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
3.

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
4.

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
5.

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
6.

"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
7.

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
8.

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
9.

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
10.

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
11.

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
12.

Cryptic 7q21 and 9p23 deletions in a patient with apparently balanced de novo reciprocal translocation t(7;9)(q21;p23) associated with a dystonia-plus syndrome: paternal deletion of the epsilon-sarcoglycan (SGCE) gene.

Bonnet C, Grégoire MJ, Vibert M, Raffo E, Leheup B, Jonveaux P.

J Hum Genet. 2008;53(10):876-85. doi: 10.1007/s10038-008-0321-z. Epub 2008 Jul 24.

PMID:
18651096
13.

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
14.

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
15.

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
16.

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
17.

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.

18.

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
19.

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
20.

Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with epsilon-sarcoglycan mutations.

Raymond D, Saunders-Pullman R, de Carvalho Aguiar P, Schule B, Kock N, Friedman J, Harris J, Ford B, Frucht S, Heiman GA, Jennings D, Doheny D, Brin MF, de Leon Brin D, Multhaupt-Buell T, Lang AE, Kurlan R, Klein C, Ozelius L, Bressman S.

Mov Disord. 2008 Mar 15;23(4):588-92. doi: 10.1002/mds.21785.

PMID:
18175340

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