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148 related items for PubMed ID: 16379547

  • 1. 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; 9(4):328-33. PubMed ID: 16379547
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. 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 Sep 25; 100(1-4):213-23. PubMed ID: 14526183
    [Abstract] [Full Text] [Related]

  • 6. Characterization of the cystatin B gene promoter harboring the dodecamer repeat expanded in progressive myoclonus epilepsy, EPM1.
    Alakurtti K, Virtaneva K, Joensuu T, Palvimo JJ, Lehesjoki AE.
    Gene; 2000 Jan 25; 242(1-2):65-73. PubMed ID: 10721698
    [Abstract] [Full Text] [Related]

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. A PCR amplification method reveals instability of the dodecamer repeat in progressive myoclonus epilepsy (EPM1) and no correlation between the size of the repeat and age at onset.
    Lalioti MD, Scott HS, Genton P, Grid D, Ouazzani R, M'Rabet A, Ibrahim S, Gouider R, Dravet C, Chkili T, Bottani A, Buresi C, Malafosse A, Antonarakis SE.
    Am J Hum Genet; 1998 Apr 24; 62(4):842-7. PubMed ID: 9529356
    [Abstract] [Full Text] [Related]

  • 9. Altered spacing of promoter elements due to the dodecamer repeat expansion contributes to reduced expression of the cystatin B gene in EPM1.
    Lalioti MD, Scott HS, Antonarakis SE.
    Hum Mol Genet; 1999 Sep 24; 8(9):1791-8. PubMed ID: 10441345
    [Abstract] [Full Text] [Related]

  • 10. Unverricht-Lundborg disease with cystatin B gene abnormalities.
    Kagitani-Shimono K, Imai K, Okamoto N, Ono J, Okada S.
    Pediatr Neurol; 2002 Jan 24; 26(1):55-60. PubMed ID: 11814737
    [Abstract] [Full Text] [Related]

  • 11. 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 24; 111(3):255-62. PubMed ID: 12215838
    [Abstract] [Full Text] [Related]

  • 12. 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 24; 53(12):2120-7. PubMed ID: 23205931
    [Abstract] [Full Text] [Related]

  • 13. Unverricht-Lundborg progressive myoclonus epilepsy in Oman.
    Santoshkumar B, Turnbull J, Minassian BA.
    Pediatr Neurol; 2008 Apr 24; 38(4):252-5. PubMed ID: 18358403
    [Abstract] [Full Text] [Related]

  • 14. Instability of the EPM1 minisatellite.
    Larson GP, Ding S, Lafrenière RG, Rouleau GA, Krontiris TG.
    Hum Mol Genet; 1999 Oct 24; 8(11):1985-8. PubMed ID: 10484766
    [Abstract] [Full Text] [Related]

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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 Oct 24; 8(6):515-22. PubMed ID: 21757863
    [Abstract] [Full Text] [Related]

  • 17. [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]

  • 18. Molecular background of EPM1-Unverricht-Lundborg disease.
    Joensuu T, Lehesjoki AE, Kopra O.
    Epilepsia; 2008 Apr 04; 49(4):557-63. PubMed ID: 18028412
    [Abstract] [Full Text] [Related]

  • 19. A shared haplotype indicates a founder event in Unverricht-Lundborg disease patients from Serbia.
    Kecmanović M, Ristić AJ, Ercegovac M, Keckarević-Marković M, Keckarević D, Sokić D, Romac S.
    Int J Neurosci; 2014 Feb 04; 124(2):102-9. PubMed ID: 23883076
    [Abstract] [Full Text] [Related]

  • 20. 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
    [Abstract] [Full Text] [Related]

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