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Results: 1 to 20 of 115

1.

Large SGCE deletion contributes to Taiwanese myoclonus-dystonia syndrome.

Huang CL, Lan MY, Chang YY, Hsu CY, Lai SC, Chen RS, Chang HC, Lu CS, Wu-Chou YH.

Parkinsonism Relat Disord. 2010 Nov;16(9):585-9. doi: 10.1016/j.parkreldis.2010.06.016. Epub 2010 Aug 30.

PMID:
20800530
[PubMed - indexed for MEDLINE]
2.

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]
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.

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
5.

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]
6.

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
7.

Defining the epsilon-sarcoglycan (SGCE) gene phenotypic signature in myoclonus-dystonia: a reappraisal of genetic testing criteria.

Carecchio M, Magliozzi M, Copetti M, Ferraris A, Bernardini L, Bonetti M, Defazio G, Edwards MJ, Torrente I, Pellegrini F, Comi C, Bhatia KP, Valente EM.

Mov Disord. 2013 Jun;28(6):787-94. doi: 10.1002/mds.25506. Epub 2013 May 15.

PMID:
23677909
[PubMed - indexed for MEDLINE]
8.

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]
9.

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
[PubMed - indexed for MEDLINE]
10.

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]
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
[PubMed - indexed for MEDLINE]
12.

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
13.

Incomplete nonsense-mediated decay facilitates detection of a multi-exonic deletion mutation in SGCE.

Xiao J, Nance MA, LeDoux MS.

Clin Genet. 2013 Sep;84(3):276-80. doi: 10.1111/cge.12059. Epub 2012 Nov 30. Review.

PMID:
23140253
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
15.

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]
16.

High frequency of multiexonic deletion of the GCH1 gene in a Taiwanese cohort of dopa-response dystonia.

Wu-Chou YH, Yeh TH, Wang CY, Lin JJ, Huang CC, Chang HC, Lai SC, Chen RS, Weng YH, Huang CL, Lu CS.

Am J Med Genet B Neuropsychiatr Genet. 2010 Jun 5;153B(4):903-8. doi: 10.1002/ajmg.b.31058.

PMID:
20082337
[PubMed - indexed for MEDLINE]
17.

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]
18.

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
[PubMed - indexed for MEDLINE]
19.

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]
20.

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]

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