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Journal Abstract Search

134 related items for PubMed ID: 10660338

  • 1. 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; 12(3):218. PubMed ID: 10660338
    [Abstract] [Full Text] [Related]

  • 2. Cystatin B: mutation detection, alternative splicing and expression in progressive myclonus epilepsy of Unverricht-Lundborg type (EPM1) patients.
    Joensuu T, Kuronen M, Alakurtti K, Tegelberg S, Hakala P, Aalto A, Huopaniemi L, Aula N, Michellucci R, Eriksson K, Lehesjoki AE.
    Eur J Hum Genet; 2007 Feb; 15(2):185-93. PubMed ID: 17003839
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  • 3. DNA deamination enables direct PCR amplification of the cystatin B (CSTB) gene-associated dodecamer repeat expansion in myoclonus epilepsy type Unverricht-Lundborg.
    Weinhaeusel A, Morris MA, Antonarakis SE, Haas OA.
    Hum Mutat; 2003 Nov; 22(5):404-8. PubMed ID: 14517952
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  • 4. 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; 13(2):208-15. PubMed ID: 15483648
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  • 5. 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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  • 6. [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
    [Abstract] [Full Text] [Related]

  • 7. 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 May 04; 8(6):515-22. PubMed ID: 21757863
    [Abstract] [Full Text] [Related]

  • 8. 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
    [Abstract] [Full Text] [Related]

  • 9. The epilepsy, the protease inhibitor and the dodecamer: progressive myoclonus epilepsy, cystatin b and a 12-mer repeat expansion.
    Lalioti MD, Antonarakis SE, Scott HS.
    Cytogenet Genome Res; 2003 Mar 04; 100(1-4):213-23. PubMed ID: 14526183
    [Abstract] [Full Text] [Related]

  • 10. Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1.
    Virtaneva K, D'Amato E, Miao J, Koskiniemi M, Norio R, Avanzini G, Franceschetti S, Michelucci R, Tassinari CA, Omer S, Pennacchio LA, Myers RM, Dieguez-Lucena JL, Krahe R, de la Chapelle A, Lehesjoki AE.
    Nat Genet; 1997 Apr 04; 15(4):393-6. PubMed ID: 9090386
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  • 19. Intramolecular i-motif structure at acidic pH for progressive myoclonus epilepsy (EPM1) repeat d(CCCCGCCCCGCG)n.
    Pataskar SS, Dash D, Brahmachari SK.
    J Biomol Struct Dyn; 2001 Oct 04; 19(2):307-13. PubMed ID: 11697735
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