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133 related items for PubMed ID: 11697735

  • 1. 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; 19(2):307-13. PubMed ID: 11697735
    [Abstract] [Full Text] [Related]

  • 2. Progressive myoclonus epilepsy [EPM1] repeat d(CCCCGCCCCGCG)n forms folded hairpin structures at physiological pH.
    Pataskar SS, Dash D, Brahmachari SK.
    J Biomol Struct Dyn; 2001 Oct; 19(2):293-305. PubMed ID: 11697734
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  • 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
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  • 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 May 04; 100(1-4):213-23. PubMed ID: 14526183
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  • 8. 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 04; 8(9):1791-8. PubMed ID: 10441345
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  • 9. 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 Sep 04; 12(3):218. PubMed ID: 10660338
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  • 10. 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. 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 24; 22(5):404-8. PubMed ID: 14517952
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  • 12. 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
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  • 13. Tetraplex formation by the progressive myoclonus epilepsy type-1 repeat: implications for instability in the repeat expansion diseases.
    Saha T, Usdin K.
    FEBS Lett; 2001 Mar 02; 491(3):184-7. PubMed ID: 11240124
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  • 14. The guanine-rich fragile X chromosome repeats are reluctant to form tetraplexes.
    Fojtík P, Kejnovská I, Vorlícková M.
    Nucleic Acids Res; 2004 Mar 02; 32(1):298-306. PubMed ID: 14718550
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  • 15. Instability of the EPM1 minisatellite.
    Larson GP, Ding S, Lafrenière RG, Rouleau GA, Krontiris TG.
    Hum Mol Genet; 1999 Oct 02; 8(11):1985-8. PubMed ID: 10484766
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  • 16. Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1).
    Lalioti MD, Mirotsou M, Buresi C, Peitsch MC, Rossier C, Ouazzani R, Baldy-Moulinier M, Bottani A, Malafosse A, Antonarakis SE.
    Am J Hum Genet; 1997 Feb 02; 60(2):342-51. PubMed ID: 9012407
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  • 17. 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 02; 62(4):842-7. PubMed ID: 9529356
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  • 18. 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 02; 41(5):686-9. PubMed ID: 9153533
    [Abstract] [Full Text] [Related]

  • 19. 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 May 02; 9(4):328-33. PubMed ID: 16379547
    [Abstract] [Full Text] [Related]

  • 20. Unverricht-Lundborg progressive myoclonus epilepsy in Oman.
    Santoshkumar B, Turnbull J, Minassian BA.
    Pediatr Neurol; 2008 Apr 02; 38(4):252-5. PubMed ID: 18358403
    [Abstract] [Full Text] [Related]

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