Similar articles for PMID: 9054946

Year	Number of Results
1978	1
1987	1
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1993	7
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1

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

2

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

3

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. Lalioti MD, et al. Nature. 1997 Apr 24;386(6627):847-51. doi: 10.1038/386847a0. Nature. 1997. PMID: 9126745

4

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.

5

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

6

[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.

7

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

8

Progressive ataxia, myoclonic epilepsy and cerebellar apoptosis in cystatin B-deficient mice.

Pennacchio LA, Bouley DM, Higgins KM, Scott MP, Noebels JL, Myers RM. Pennacchio LA, et al. Nat Genet. 1998 Nov;20(3):251-8. doi: 10.1038/3059. Nat Genet. 1998. PMID: 9806543

9

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. Alakurtti K, et al. Eur J Hum Genet. 2005 Feb;13(2):208-15. doi: 10.1038/sj.ejhg.5201300. Eur J Hum Genet. 2005. PMID: 15483648

10

What is expanded in progressive myoclonus epilepsy?

Lalioti MD, Scott HS, Antonarakis SE. Lalioti MD, et al. Nat Genet. 1997 Sep;17(1):17. doi: 10.1038/ng0997-17. Nat Genet. 1997. PMID: 9288090 No abstract available.

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