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331 related items for PubMed ID: 17003839

  • 1. 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]

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

  • 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
    [Abstract] [Full Text] [Related]

  • 4. [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]

  • 5. 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]

  • 6. 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]

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

  • 8. 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 Apr 24; 12(3):218. PubMed ID: 10660338
    [Abstract] [Full Text] [Related]

  • 9. 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 24; 15(3):298-302. PubMed ID: 9054946
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. 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]

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

  • 13. Altered tryptophan metabolism in the brain of cystatin B-deficient mice: a model system for progressive myoclonus epilepsy.
    Vaarmann A, Kaasik A, Zharkovsky A.
    Epilepsia; 2006 Oct 25; 47(10):1650-4. PubMed ID: 17054687
    [Abstract] [Full Text] [Related]

  • 14. 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 25; 111(3):255-62. PubMed ID: 12215838
    [Abstract] [Full Text] [Related]

  • 15. Unverricht-Lundborg disease: homozygosity for a new splicing mutation in the cystatin B gene.
    Pinto E, Freitas J, Duarte AJ, Ribeiro I, Ribeiro D, Lima JL, Chaves J, Amaral O.
    Epilepsy Res; 2012 Mar 25; 99(1-2):187-90. PubMed ID: 22154554
    [Abstract] [Full Text] [Related]

  • 16. Clinical picture of EPM1-Unverricht-Lundborg disease.
    Kälviäinen R, Khyuppenen J, Koskenkorva P, Eriksson K, Vanninen R, Mervaala E.
    Epilepsia; 2008 Apr 25; 49(4):549-56. PubMed ID: 18325013
    [Abstract] [Full Text] [Related]

  • 17. Unverricht-Lundborg progressive myoclonus epilepsy in Oman.
    Santoshkumar B, Turnbull J, Minassian BA.
    Pediatr Neurol; 2008 Apr 25; 38(4):252-5. PubMed ID: 18358403
    [Abstract] [Full Text] [Related]

  • 18. 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 25; 8(9):1791-8. PubMed ID: 10441345
    [Abstract] [Full Text] [Related]

  • 19. Protein aggregation as a possible cause for pathology in a subset of familial Unverricht-Lundborg disease.
    Ceru S, Rabzelj S, Kopitar-Jerala N, Turk V, Zerovnik E.
    Med Hypotheses; 2005 Sep 25; 64(5):955-9. PubMed ID: 15780491
    [Abstract] [Full Text] [Related]

  • 20. 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 Sep 25; 9(4):328-33. PubMed ID: 16379547
    [Abstract] [Full Text] [Related]

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