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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 Science; 1996 Mar; 271(5256):1731-4. PubMed ID: 8596935 [TBL] [Abstract][Full Text] [Related]
8. [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; 146(18):846-8. PubMed ID: 12038222 [TBL] [Abstract][Full Text] [Related]
9. 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; 60(2):342-51. PubMed ID: 9012407 [TBL] [Abstract][Full Text] [Related]
10. Human genetics. Breaking the rule of three. Mandel JL Nature; 1997 Apr; 386(6627):767-9. PubMed ID: 9126731 [No Abstract] [Full Text] [Related]
12. Isolation and characterization of the mouse cystatin B gene. Pennacchio LA; Myers RM Genome Res; 1996 Nov; 6(11):1103-9. PubMed ID: 8938434 [TBL] [Abstract][Full Text] [Related]
13. Mutations in the QVVAG region of the cysteine proteinase inhibitor stefin B. Jerala R; Trstenjak-Prebanda M; Kroon-Zitko L; Lenarcic B; Turk V Biol Chem Hoppe Seyler; 1990 May; 371 Suppl():157-60. PubMed ID: 2400576 [TBL] [Abstract][Full Text] [Related]
15. Novel cystatin B mutation and diagnostic PCR assay in an Unverricht-Lundborg progressive myoclonus epilepsy patient. Bespalova IN; Adkins S; Pranzatelli M; Burmeister M Am J Med Genet; 1997 Sep; 74(5):467-71. PubMed ID: 9342192 [TBL] [Abstract][Full Text] [Related]
16. 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; 100(1-4):213-23. PubMed ID: 14526183 [TBL] [Abstract][Full Text] [Related]
17. Cystatins as calpain inhibitors: engineered chicken cystatin- and stefin B-kininogen domain 2 hybrids support a cystatin-like mode of interaction with the catalytic subunit of mu-calpain. Díaz BG; Gross S; Assfalg-Machleidt I; Pfeiler D; Gollmitzer N; Gabrijelcic-Geiger D; Stubbs MT; Fritz H; Auerswald EA; Machleidt W Biol Chem; 2001 Jan; 382(1):97-107. PubMed ID: 11258679 [TBL] [Abstract][Full Text] [Related]
18. 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; 12(3):218. PubMed ID: 10660338 [TBL] [Abstract][Full Text] [Related]