| 1 | DYT11, SGCE
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| SGCE isoform characterization and expression in human brain: implications for myoclonus-dystonia pathogenesis?
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| Ritz K, van Schaik BD, Jakobs ME, van Kampen AH, Aronica E, Tijssen MA, Baas F.
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| Eur J Hum Genet 19(4):438-44. Epub 2010 Dec 15.
2011
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| 2 | DEL7Q21, DYT11, HEPACAM2, SGCE
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| Myoclonus dystonia plus syndrome due to a novel 7q21 microdeletion.
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| Saugier-Veber P, Doummar D, Barthez MA, Czernecki V, Drouot N, Apartis E, Bürglen L, Frebourg T, Roze E.
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| Am J Med Genet A 152A(5):1244-9.PMID: 20425829 2010
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| 3 | SGCE
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| Large SGCE deletion contributes to Taiwanese myoclonus-dystonia syndrome.
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| Huang CL, Lan MY, Chang YY, Hsu CY, Lai SC, Chen RS, Chang HC, Lu CS, Wu-Chou YH.
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| Parkinsonism Relat Disord 16(9):585-9. Epub 2010 Aug 30.
2010
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| 4 | DYT11, SGCE
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| Clinical and neurophysiological improvement of SGCE myoclonus-dystonia with GPi deep brain stimulation.
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| Kurtis MM, San Luciano M, Yu Q, Goodman RR, Ford B, Raymond D, Pullman SL, Saunders-Pullman R.
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| Clin Neurol Neurosurg 112(2):149-52. Epub 2009 Nov 5.
2010
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| 5 | DYT11, SGCE
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| Hereditary myoclonus dystonia (DYT11): a novel SGCE gene mutation with intrafamilial phenotypic heterogeneity.
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| Wong SH, Steiger MJ, Larner AJ, Fletcher NA.
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| Mov Disord 25(7):956-7. No abstract available.
2010
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| 6 | DYT11, SGCE
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| Myoclonus-dystonia: clinical and genetic evaluation of a large cohort.
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| 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.
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| J Neurol Neurosurg Psychiatry 80(6):653-8. Epub 2008 Dec 9.
2009
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| 7 | DEL7Q21, DYT11, SGCE
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| 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.
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| Bonnet C, Grégoire MJ, Vibert M, Raffo E, Leheup B, Jonveaux P.
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| J Hum Genet 53(10):876-85. Epub 2008 Jul 24. 2008
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| 8 | COL1A2, DEL7Q21, DYT11, SGCE
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| Myoclonus-dystonia: significance of large SGCE deletions.
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| 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.
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| Hum Mutat 29(2):331-2. 2008
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| 9 | DYT11, SGCE, SGCE, UPD7M
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| Myoclonus-dystonia due to maternal uniparental disomy.
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| 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.
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| Arch Neurol 65(10):1380-5. 2008
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| 10 | DYT11, SGCE
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| Myoclonus-dystonia: clinical and electrophysiologic pattern related to SGCE mutations.
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| Roze E, Apartis E, Clot F, Dorison N, Thobois S, Guyant-Marechal L, Tranchant C, Damier P, Doummar D, Bahi-Buisson N, André-Obadia N, Maltete D, Echaniz-Laguna A, Pereon Y, Beaugendre Y, Dupont S, De Greslan T, Jedynak CP, Ponsot G, Dussaule JC, Brice A, Dürr A, Vidailhet M.
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| Neurology 70(13):1010-6.PMID: 18362280 2008
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| 11 | SGCE, DYT11
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| SGCE missense mutations that cause myoclonus-dystonia syndrome impair {varepsilon}-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA.
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| Esapa CT, Waite A, Locke M, Benson MA, Kraus M, McIlhinney RA, Sillitoe RV, Beesley PW, Blake DJ.
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| Hum Mol Genet 16(3):327-42. Epub 2007 Jan 2. 2007
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| 12 | DYT11, SGCE
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| Myoclonus-dystonia, obsessive-compulsive disorder, and alcohol dependence in SGCE mutation carriers.
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| Hess CW, Raymond D, Aguiar Pde C, Frucht S, Shriberg J, Heiman GA, Kurlan R, Klein C, Bressman SB, Ozelius LJ, Saunders-Pullman R.
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| Neurology 68(7):522-4.
2007
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| 13 | COL1A2, DEL7Q21, DYT11, KRIT1, SGCE, SHFM1
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| Genomic deletion size at the epsilon-sarcoglycan locus determines the clinical phenotype.
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| Asmus F, Hjermind LE, Dupont E, Wagenstaller J, Haberlandt E, Munz M, Strom TM, Gasser T.
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| Brain 130(Pt 10):2736-45. 2007
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| 14 | DYT11, SGCE
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| Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes.
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| Tezenas du Montcel S, Clot F, Vidailhet M, Roze E, Damier P, Jedynak CP, Camuzat A, Lagueny A, Vercueil L, Doummar D, Guyant-Marechal L, Houeto JL, Ponsot G, Thobois S, Cournelle MA, Durr A, Durif F, Echenne B, Hannequin D, Tranchant C, Brice A; French Dystonia Network.
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| J Med Genet 43(5):394-400. Epub 2005 Oct 14. 2006
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| 15 | SGCE
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| Identification and characterization of epsilon-sarcoglycans in the central nervous system.
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| Nishiyama A, Endo T, Takeda S, Imamura M.
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| Brain Res Mol Brain Res 125(1-2):1-12. 2004
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| 16 | DEL7Q21, SGCE
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| Myoclonus in a patient with a deletion of the epsilon-sarcoglycan locus on chromosome 7q21.
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| DeBerardinis RJ, Conforto D, Russell K, Kaplan J, Kollros PR, Zackai EH, Emanuel BS.
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| Am J Med Genet 121A(1):31-6. 2003
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| 17 | SGCE, DYT11
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| A novel mutation in the epsilon-sarcoglycan gene causing myoclonus-dystonia syndrome.
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| Hjermind LE, Werdelin LM, Eiberg H, Krag-Olsen B, Dupont E, Sorensen SA.
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| Neurology 60(9):1536-9. 2003
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| 18 | DYT11, SGCE
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| The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted.
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| Grabowski M, Zimprich A, Lorenz-Depiereux B, Kalscheuer V, Asmus F, Gasser T, Meitinger T, Strom TM.
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| Eur J Hum Genet 11(2):138-44.
2003
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| 19 | SGCE, DYT11
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| Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype.
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| Asmus F, Zimprich A, Tezenas Du Montcel S, Kabus C, Deuschl G, Kupsch A, Ziemann U, Castro M, Kuhn AA, Strom TM, Vidailhet M, Bhatia KP, Durr A, Wood NW, Brice A, Gasser T.
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| Ann Neurol 52(4):489-92. 2002
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| 20 | DYT11, SGCE
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| Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia.
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| 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.
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| Am J Hum Genet 71(6):1303-11. Epub 2002 Nov 20.
2002
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| 21 | CASD1, DYT11, SGCE
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| Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome.
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| Zimprich A, Grabowski M, Asmus F, Naumann M, Berg D, Bertram M, Scheidtmann K, Kern P, Winkelmann J, Muller-Myhsok B, Riedel L, Bauer M, Muller T, Castro M, Meitinger T, Strom TM, Gasser T.
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| Nat Genet 29(1):66-9. 2001
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| 22 | SGCE
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| Sarcoglycan isoforms in skeletal muscle.
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| Liu LA, Engvall E.
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| J Biol Chem 274(53):38171-6. 1999
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| 23 | SGCE
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| Human epsilon-sarcoglycan is highly related to alpha-sarcoglycan (adhalin), the limb girdle muscular dystrophy 2D gene.
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| McNally EM, et al.
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| FEBS Lett 422 : 27-32. 1998
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| 24 | SGCE
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| Epsilon-Sarcoglycan, a broadly expressed homologue of the gene mutated in limb-girdle muscular dystrophy 2D.
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| Ettinger AJ, et al.
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| J Biol Chem 272 : 32534-32538. 1997
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