BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

334 related articles for article (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
    [TBL] [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
    [TBL] [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
    [TBL] [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; 146(18):846-8. PubMed ID: 12038222
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Molecular background of EPM1-Unverricht-Lundborg disease.
    Joensuu T; Lehesjoki AE; Kopra O
    Epilepsia; 2008 Apr; 49(4):557-63. PubMed ID: 18028412
    [TBL] [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; 386(6627):847-51. PubMed ID: 9126745
    [TBL] [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; 8(6):515-22. PubMed ID: 21757863
    [TBL] [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; 12(3):218. PubMed ID: 10660338
    [TBL] [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; 15(3):298-302. PubMed ID: 9054946
    [TBL] [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; 53(12):2120-7. PubMed ID: 23205931
    [TBL] [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; 242(1-2):65-73. PubMed ID: 10721698
    [TBL] [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; 100(1-4):213-23. PubMed ID: 14526183
    [TBL] [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; 47(10):1650-4. PubMed ID: 17054687
    [TBL] [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; 111(3):255-62. PubMed ID: 12215838
    [TBL] [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; 99(1-2):187-90. PubMed ID: 22154554
    [TBL] [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; 49(4):549-56. PubMed ID: 18325013
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Unverricht-Lundborg progressive myoclonus epilepsy in Oman.
    Santoshkumar B; Turnbull J; Minassian BA
    Pediatr Neurol; 2008 Apr; 38(4):252-5. PubMed ID: 18358403
    [TBL] [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; 8(9):1791-8. PubMed ID: 10441345
    [TBL] [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; 64(5):955-9. PubMed ID: 15780491
    [TBL] [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; 9(4):328-33. PubMed ID: 16379547
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 17.