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Items: 1 to 20 of 134

1.

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.

PMID:
23677909
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.

3.

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
4.

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.

PMID:
20800530
5.

SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype.

Peall KJ, Kurian MA, Wardle M, Waite AJ, Hedderly T, Lin JP, Smith M, Whone A, Pall H, White C, Lux A, Jardine PE, Lynch B, Kirov G, O'Riordan S, Samuel M, Lynch T, King MD, Chinnery PF, Warner TT, Blake DJ, Owen MJ, Morris HR.

J Neurol. 2014 Dec;261(12):2296-304. doi: 10.1007/s00415-014-7488-3.

6.

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.

PMID:
19066193
7.

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
8.

SGCZ mutations are unlikely to be associated with myoclonus dystonia.

Peall KJ, Ritz K, Waite AJ, Groen JL, Morris HR, Baas F, Blake DJ, Tijssen MA.

Neuroscience. 2014 Jul 11;272:88-91. doi: 10.1016/j.neuroscience.2014.04.034.

PMID:
24792710
9.

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
10.

A novel conserved mutation in SGCE gene in 3 unrelated patients with classical phenotype myoclonus-dystonia syndrome.

Szubiga M, Rudzińska M, Bik-Multanowski M, Pietrzyk JJ, Szczudlik A.

Neurol Res. 2013 Jul;35(6):659-62. doi: 10.1179/1743132812Y.0000000146.

PMID:
23561547
11.

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
12.

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
13.

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
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.

PMID:
22026499
15.

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.

16.

The neurophysiological features of myoclonus-dystonia and differentiation from other dystonias.

Popa T, Milani P, Richard A, Hubsch C, Brochard V, Tranchant C, Sadnicka A, Rothwell J, Vidailhet M, Meunier S, Roze E.

JAMA Neurol. 2014 May;71(5):612-9. doi: 10.1001/jamaneurol.2014.99.

PMID:
24638021
17.

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
18.

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. Review.

PMID:
23140253
19.
20.

SGCE mutations cause psychiatric disorders: clinical and genetic characterization.

Peall KJ, Smith DJ, Kurian MA, Wardle M, Waite AJ, Hedderly T, Lin JP, Smith M, Whone A, Pall H, White C, Lux A, Jardine P, Bajaj N, Lynch B, Kirov G, O'Riordan S, Samuel M, Lynch T, King MD, Chinnery PF, Warner TT, Blake DJ, Owen MJ, Morris HR.

Brain. 2013 Jan;136(Pt 1):294-303. doi: 10.1093/brain/aws308.

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