| 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 | EPM1
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| Unverricht-Lundborg disease (EPM1).
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| Genton P.
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| Epilepsia 51 Suppl 1:37-9. No abstract available.
2010
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| 3 | 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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| 4 | CYSTB, EPM1
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| Cystatin B deficiency sensitizes neurons to oxidative stress in progressive myoclonus epilepsy, EPM1.
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| Lehtinen MK, Tegelberg S, Schipper H, Su H, Zukor H, Manninen O, Kopra O, Joensuu T, Hakala P, Bonni A, Lehesjoki AE.
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| J Neurosci 29(18):5910-5.
2009
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| 5 | 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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| 6 | EPM1
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| Sensorimotor cortex excitability in Unverricht-Lundborg disease and Lafora body disease.
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| Canafoglia L, Ciano C, Panzica F, Scaioli V, Zucca C, Agazzi P, Visani E, Avanzini G, Franceschetti S.
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| Neurology 63(12):2309-15.
2004
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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 | EPM1
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| Haplotype study of West European and North African Unverricht-Lundborg chromosomes: evidence for a few founder mutations.
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| Moulard B, Genton P, Grid D, Jeanpierre M, Ouazzani R, Mrabet A, Morris M, LeGuern E, Dravet C, Mauguiere F, Utermann B, Baldy-Moulinier M, Belaidi H, Bertran F, Biraben A, Ali Cherif A, Chkili T, Crespel A, Darcel F, Dulac O, Geny C, Humbert-Claude V, Kassiotis P, Buresi C, Malafosse A.
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| Hum Genet 111(3):255-62. 2002
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| 9 | 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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| 10 | 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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| 11 | 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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| 12 | 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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| 13 | 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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| 14 | 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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| 15 | CSTB, EPM1
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| Allelic heterogeneity of Mediterranean myoclonus and the cystatin B gene.
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| 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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| 16 | EPM1
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| What is expanded in progressive myoclonus epilepsy?
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| Lalioti MD, Scott HS, Antonarakis SE.
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| Nat Genet 17(1):17. No abstract available. 1997
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| 17 | CTSB, EPM1
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| Novel cystatin B mutation and diagnostic PCR assay in an Unverricht-Lundborg progressive myoclonus epilepsy patient.
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| Bespalova IN, Adkins S, Pranzatelli M, Burmeister M.
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| Am J Med Genet 74(5):467-71. 1997
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| 18 | EPM1
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| GT335 : an evolutionarily conserved gene mapping to the EPM1 candidate region in 21q22.3. (abstr)
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| Lafreni¸re RG, et al.
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| Cytogenet Cell Genet 79 : 43. 1997
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| 19 | CSTB, EPM1
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| Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1).
|
| 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
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| 20 | EPM1
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| Progressive myoclonus epilepsy EPM1 locus maps to a 175-kb interval in distal 21q.
|
| Virtaneva K, et al.
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| Am J Hum Genet 58 : 1247-1253. 1996
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| 21 | EPM1, D21S1988, D21S1458, D21S1459, D21S1953, D21S1978, D21S1259, D21S1991, D21S1460, D21S25, D21S1461, D21S400, D21S154
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| Construction of a 750-kb bacterial clone contig and restriction map in the region of human chromosome 21 containing the progressive myoclonus epilepsy gene.
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| Stone NE, et al.
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| Genome Res 6 : 218-225. 1996
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| 22 | EPM1
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| A 405-kb cosmid contig and HindIII restriction map of the progressive myoclonus epilepsy type 1 (EPM1) candidate region in 21q22.3.
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| Lafreni¸re RG, et al.
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| Genomics 29 : 288-290. 1995
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| 23 | EPM1, HPE1, TRAPPC10
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| Isolation and characterization of a candidate gene for progressive myoclonus epilepsy on 21q22.3.
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| Yamakawa K, et al.
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| Hum Mol Genet 4 : 709-716. 1995
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| 24 | EPM1
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| PME of Unverricht-Lundborg type in the Mediterranean region : linkage and linkage disequilibrium confirm the assignment to the EPM1 locus.
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| Lehesjoki AE, et al.
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| Hum Genet 93 : 668-674. 1994
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| 25 | EPM1, EJM1
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| Linkage analysis of idiopathic generalised epilepsy in families of probands with juvenile myoclonic epilepsy and marker loci in the region of EPM 1 on chromosome 21 q : Unverricht-Lundborg disease and JME are not allelic variants.
|
| Rees M, et al.
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| Neuropediatrics 25 : 20-25. 1994
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| 26 | EPM1
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| Localization of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: linkage disequilibrium allows high resolution mapping.
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| Lehesjoki AE, et al.
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| Hum Mol Genet 2 : 1229-1234. 1993
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| 27 | EPM1, D21S113
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| Identical genetic locus for Baltic and Mediterranean myoclonus.
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| Malafosse A, et al.
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| Lancet 339 : 1080-1081. 1992
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| 28 | EPM1
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| Localization of a gene for progressive myoclonous epilepsy to chromosome 21q22.
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| Lehesjoki AE, et al.
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| Proc Natl Acad Sci U S A 88 : 3696-3699. 1991
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| 29 | EPM1
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| Linkage studies in progressive myoclonus epilepsy of Unverricht-Lundborg type (EPM1).
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| Lehesjoki AE, et al.
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| (HGM11) Cytogenet Cell Genet 58 : 2037. 1991
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| 30 | EPM1
|
| The Ramsay-Hunt syndrome revisited : Mediterranean myoclonus versus mitochondrial encephalomyopathy with ragged-red fibers and Baltic myoclonus.
|
| Genton P, et al.
|
| Acta Neurol Scand 181 : 8-15. 1990
|