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PUBMED FOR HANDHELDS

Journal Abstract Search


635 related items for PubMed ID: 16227522

  • 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. PubMed ID: 16227522
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  • 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. PubMed ID: 17702043
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  • 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 31; 130(Pt 10):2736-45. PubMed ID: 17898012
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  • 7. 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 31; 52(4):489-92. PubMed ID: 12325078
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  • 8. 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 31; 29(1):66-9. PubMed ID: 11528394
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  • 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 31; 29(2):331-2. PubMed ID: 18205193
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  • 10. 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 31; 58(5):792-7. PubMed ID: 16240355
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  • 12. 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 31; 65(10):1380-5. PubMed ID: 18852357
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  • 19. Myoclonus in fraternal twin toddlers: a French family with a novel mutation in the SGCE gene.
    Thümmler S, Giuliano F, Pincemaille O, Saugier-Veber P, Perelman S.
    Eur J Paediatr Neurol; 2009 Nov 31; 13(6):559-61. PubMed ID: 19147379
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  • 20. 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 31; 28(6):787-94. PubMed ID: 23677909
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