| 1 | CSTB, EPM1
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| New neuropathological findings in Unverricht-Lundborg disease: neuronal intranuclear and cytoplasmic inclusions.
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| Cohen NR, Hammans SR, Macpherson J, Nicoll JA.
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| Acta Neuropathol cta Neuropathol. 2010 Aug 19. [Epub ahead of print]
2010
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| 2 | CSTB, EPM1
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| Stefin B interacts with histones and cathepsin L in the nucleus.
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| Ceru S, Konjar S, Maher K, Repnik U, Krizaj I, Bencina M, Renko M, Nepveu A, Zerovnik E, Turk B, Kopitar-Jerala N.
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| J Biol Chem Biol Chem. 2010
2010
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| 3 | CSTB
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| Cystatins: biochemical and structural properties, and medical relevance.
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| Turk V, Stoka V, Turk D.
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| Front Biosci 13:5406-20. Review.
2008
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| 4 | CSTB, EPM1
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| Cystatin B: mutation detection, alternative splicing and expression in progressive myclonus epilepsy of Unverricht-Lundborg type (EPM1) patients.
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| Joensuu T, Kuronen M, Alakurtti K, Tegelberg S, Hakala P, Aalto A, Huopaniemi L, Aula N, Michellucci R, Eriksson K, Lehesjoki AE.
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| Eur J Hum Genet 15(2):185-93. Epub 2006 Sep 27. 2007
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| 5 | CSTB
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| Cystatins in non-small cell lung cancer: tissue levels, localization and relation to prognosis.
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| Werle B, Schanzenbacher U, Lah TT, Ebert E, Julke B, Ebert W, Fiehn W, Kayser K, Spiess E, Abrahamson M, Kos J.
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| Oncol Rep 16(4):647-55. 2006
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| 6 | CSTB
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| Evolution of the cystatin B gene: implications for the origin of its variable dodecamer tandem repeat in humans small star, filled.
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| Osawa M, Kaneko M, Horiuchi H, Kitano T, Kawamoto Y, Saitou N, Umetsu K.
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| Genomics 81(1):78-84. 2003
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| 7 | CSTB, EPM1
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| The epilepsy, the protease inhibitor and the dodecamer: progressive myoclonus epilepsy, cystatin b and a 12-mer repeat expansion.
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| Lalioti MD, Antonarakis SE, Scott HS.
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| Cytogenet Genome Res 100(1-4):213-23. 2003
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| 8 | CSTB
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| Characterization of the cystatin B gene promoter harboring the dodecamer repeat expanded in progressive myoclonus epilepsy, EPM1.
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| Alakurtti K, Virtaneva K, Joensuu T, Palvimo JJ, Lehesjoki AE.
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| Gene 242(1-2):65-73. 2000
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| 9 | ADARB1, C21orf33, CABIN1, COL18A1, COL6A1, COL6A2, CSTB, ILVBL, ITGB2, KRTAP12-1, PDXK, PFKL, PGA1, PRMT2, S100B, TRAPPC10, TRPM2, UBE2G2
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| Perfect conserved linkage across the entire mouse chromosome 10 region homologous to human chromosome 21.
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| Wiltshire T, Pletcher M, Cole SE, Villanueva M, Birren B, Lehoczky J, Dewar K, Reeves RH.
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| Genome Res 9(12):1214-22 1999
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| 10 | CSTB, EPM1
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| 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.
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| 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.
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| Am J Hum Genet 62 : 842-847. 1998
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| 11 | CSTB, EPM1
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| Progressive ataxia, myoclonic epilepsy and cerebellar apoptosis in cystatin B-deficient mice.
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| Pennacchio LA, Bouley DM, Higgins KM, Scott MP, Noebels JL, Myers RM.
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| Nat Genet 20(3):251-8. 1998
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| 12 | CSTB, EPM1
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| Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1).
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| Lalioti MD, Mirotsou M, Buresi C, Peitsch MC, Rossier C, Ouazzani R, Baldy-Moulinier M, Bottani A, Malafosse A, Antonarakis SE.
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| Am J Hum Genet 60 : 342-351. 1997
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| 13 | CSTB, EPM1
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| Unstable insertion in the 5' flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1.
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| Lafreniere RG, Rochefort DL, Chretien N, Rommens JM, Cochius JI, Kalviainen R, Nousiainen U, Patry G, Farrell K, Soderfeldt B, Federico A, Hale BR, Cossio OH, Sorensen T, Pouliot MA, Kmiec T, Uldall P, Janszky J, Pranzatelli MR, Andermann F, Andermann E, Rouleau GA.
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| Nat Genet 15 : 298-302. 1997
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| 14 | CSTB, EPM1
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| Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1.
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| 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.
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| Nat Genet 15 : 393-396. 1997
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| 15 | CSTB, EPM1
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| Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy.
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| Lalioti MD, Scott HS, Buresi C, Rossier C, Bottani A, Morris MA, Malafosse A, Antonarakis SE.
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| Nature 386 : 847-851. 1997
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| 16 | CSTB, EPM1
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| 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.
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| Ann Neurol 41(5):686-9. 1997
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| 17 | CSTB, EPM1
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| Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1).
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| Pennacchio LA, Lehesjoki AE, Stone NE, Willour VL, Virtaneva K, Miao J, D'Amato E, Ramirez L, Faham M, Koskiniemi M, Warrington JA, Norio R, de la Chapelle A, Cox DR, Myers RM.
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| Science 271 : 1731-1734. 1996
|