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Journal Abstract Search

184 related items for PubMed ID: 12215838

  • 1. Haplotype study of West European and North African Unverricht-Lundborg chromosomes: evidence for a few founder mutations.
    Moulard B, Genton P, Grid D, Jeanpierre M, Ouazzani R, Mrabet A, Morris M, LeGuern E, Dravet C, Mauguière F, Utermann B, Baldy-Moulinier M, Belaidi H, Bertran F, Biraben A, Ali Chérif A, Chkili T, Crespel A, Darcel F, Dulac O, Geny C, Humbert-Claude V, Kassiotis P, Buresi C, Malafosse A.
    Hum Genet; 2002 Sep; 111(3):255-62. PubMed ID: 12215838
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  • 5. Allelic heterogeneity of Mediterranean myoclonus and the cystatin B gene.
    Labauge P, Ouazzani R, M'Rabet A, Grid D, Genton P, Dravet C, Chkili T, Beck C, Buresi C, Baldy-Moulinier M, Malafosse A.
    Ann Neurol; 1997 May; 41(5):686-9. PubMed ID: 9153533
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  • 6. FOunder effect in patients with Unverricht-Lundborg disease on reunion island.
    Moulard B, Darcel F, Mignard D, Jeanpierre M, Genton P, Cartault F, Yaouanq J, Roubertie A, Biraben A, Buresi C, Malafosse A.
    Epilepsia; 2003 Oct; 44(10):1357-60. PubMed ID: 14510831
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  • 8. Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy.
    Lalioti MD, Scott HS, Buresi C, Rossier C, Bottani A, Morris MA, Malafosse A, Antonarakis SE.
    Nature; 1997 Apr 24; 386(6627):847-51. PubMed ID: 9126745
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  • 11. Unverricht-Lundborg disease in a five-generation Arab family: instability of dodecamer repeats.
    Mazarib A, Xiong L, Neufeld MY, Birnbaum M, Korczyn AD, Pandolfo M, Berkovic SF.
    Neurology; 2001 Sep 25; 57(6):1050-4. PubMed ID: 11571333
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  • 12. [From gene to disease; progressive myoclonus epilepsy of Unverricht-Lundborg and mutations in the cystatin B gene].
    de Haan GJ, Halley DJ, Deelen WH, Lindhout D.
    Ned Tijdschr Geneeskd; 2002 May 04; 146(18):846-8. PubMed ID: 12038222
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  • 13. Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations.
    Alakurtti K, Weber E, Rinne R, Theil G, de Haan GJ, Lindhout D, Salmikangas P, Saukko P, Lahtinen U, Lehesjoki AE.
    Eur J Hum Genet; 2005 Feb 04; 13(2):208-15. PubMed ID: 15483648
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  • 14. Unstable insertion in the 5' flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1.
    Lafrenière RG, Rochefort DL, Chrétien N, Rommens JM, Cochius JI, Kälviäinen R, Nousiainen U, Patry G, Farrell K, Söderfeldt B, Federico A, Hale BR, Cossio OH, Sørensen T, Pouliot MA, Kmiec T, Uldall P, Janszky J, Pranzatelli MR, Andermann F, Andermann E, Rouleau GA.
    Nat Genet; 1997 Mar 04; 15(3):298-302. PubMed ID: 9054946
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  • 15. Electroclinical presentation and genotype-phenotype relationships in patients with Unverricht-Lundborg disease carrying compound heterozygous CSTB point and indel mutations.
    Canafoglia L, Gennaro E, Capovilla G, Gobbi G, Boni A, Beccaria F, Viri M, Michelucci R, Agazzi P, Assereto S, Coviello DA, Di Stefano M, Rossi Sebastiano D, Franceschetti S, Zara F.
    Epilepsia; 2012 Dec 04; 53(12):2120-7. PubMed ID: 23205931
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  • 16. Severer phenotype in Unverricht-Lundborg disease (EPM1) patients compound heterozygous for the dodecamer repeat expansion and the c.202C>T mutation in the CSTB gene.
    Koskenkorva P, Hyppönen J, Aikiä M, Mervaala E, Kiviranta T, Eriksson K, Lehesjoki AE, Vanninen R, Kälviäinen R.
    Neurodegener Dis; 2011 Dec 04; 8(6):515-22. PubMed ID: 21757863
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  • 17. Polymerase chain reaction-based analysis using deaminated DNA of dodecamer expansions in CSTB, associated with Unverricht-Lundborg myoclonus epilepsy.
    Horiuchi H, Osawa M, Furutani R, Morita M, Tian W, Awatsu Y, Shimazaki H, Umetsu K.
    Genet Test; 2005 Dec 04; 9(4):328-33. PubMed ID: 16379547
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  • 18. The minisatellite expansion mutation in EPM1: resolution of an initial discrepancy. Mutatations in brief no. 186. Online.
    Virtaneva K, Paulin L, Krahe R, de la Chapelle A, Lehesjoki AE.
    Hum Mutat; 1998 Dec 04; 12(3):218. PubMed ID: 10660338
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  • 19. A new clinical and molecular form of Unverricht-Lundborg disease localized by homozygosity mapping.
    Berkovic SF, Mazarib A, Walid S, Neufeld MY, Manelis J, Nevo Y, Korczyn AD, Yin J, Xiong L, Pandolfo M, Mulley JC, Wallace RH.
    Brain; 2005 Mar 04; 128(Pt 3):652-8. PubMed ID: 15634728
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  • 20. Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations.
    Witsch-Baumgartner M, Schwentner I, Gruber M, Benlian P, Bertranpetit J, Bieth E, Chevy F, Clusellas N, Estivill X, Gasparini G, Giros M, Kelley RI, Krajewska-Walasek M, Menzel J, Miettinen T, Ogorelkova M, Rossi M, Scala I, Schinzel A, Schmidt K, Schönitzer D, Seemanova E, Sperling K, Syrrou M, Talmud PJ, Wollnik B, Krawczak M, Labuda D, Utermann G.
    J Med Genet; 2008 Apr 04; 45(4):200-9. PubMed ID: 17965227
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