Similar articles for PMID: 9342192

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1

Novel cystatin B mutation and diagnostic PCR assay in an Unverricht-Lundborg progressive myoclonus epilepsy patient.

Bespalova IN, Adkins S, Pranzatelli M, Burmeister M. Bespalova IN, et al. Am J Med Genet. 1997 Sep 19;74(5):467-71. doi: 10.1002/(sici)1096-8628(19970919)74:5<467::aid-ajmg1>3.0.co;2-l. Am J Med Genet. 1997. PMID: 9342192 Free article.

2

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. Lalioti MD, et al. Am J Hum Genet. 1997 Feb;60(2):342-51. Am J Hum Genet. 1997. PMID: 9012407 Free PMC article.

3

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. Pennacchio LA, et al. Science. 1996 Mar 22;271(5256):1731-4. doi: 10.1126/science.271.5256.1731. Science. 1996. PMID: 8596935

4

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. Labauge P, et al. Ann Neurol. 1997 May;41(5):686-9. doi: 10.1002/ana.410410520. Ann Neurol. 1997. PMID: 9153533

5

[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. de Haan GJ, et al. Ned Tijdschr Geneeskd. 2002 May 4;146(18):846-8. Ned Tijdschr Geneeskd. 2002. PMID: 12038222 Dutch.

6

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. Lafrenière RG, et al. Nat Genet. 1997 Mar;15(3):298-302. doi: 10.1038/ng0397-298. Nat Genet. 1997. PMID: 9054946

7

Progressive myoclonus epilepsy of Unverricht-Lundborg type.

Lehesjoki AE, Koskiniemi M. Lehesjoki AE, et al. Epilepsia. 1999;40 Suppl 3:23-8. doi: 10.1111/j.1528-1157.1999.tb00895.x. Epilepsia. 1999. PMID: 10446747 Free article. Review.

8

G to C transversion at a splice acceptor site causes exon skipping in the cystatin B gene.

Bespalova IN, Pranzatelli M, Burmeister M. Bespalova IN, et al. Mutat Res. 1997 Sep;382(1-2):67-74. doi: 10.1016/s1383-5726(97)00010-1. Mutat Res. 1997. PMID: 9360639

9

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. Joensuu T, et al. Eur J Hum Genet. 2007 Feb;15(2):185-93. doi: 10.1038/sj.ejhg.5201723. Epub 2006 Sep 27. Eur J Hum Genet. 2007. PMID: 17003839

10

Isolation and characterization of the mouse cystatin B gene.

Pennacchio LA, Myers RM. Pennacchio LA, et al. Genome Res. 1996 Nov;6(11):1103-9. doi: 10.1101/gr.6.11.1103. Genome Res. 1996. PMID: 8938434 Free article.

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