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3. Epilepsy genes and the genetics of epilepsy syndromes: the promise of new therapies based on genetic knowledge. Berkovic SF Epilepsia; 1997; 38 Suppl 9():S32-6. PubMed ID: 9578543 [TBL] [Abstract][Full Text] [Related]
5. What is expanded in progressive myoclonus epilepsy? Lalioti MD; Scott HS; Antonarakis SE Nat Genet; 1997 Sep; 17(1):17. PubMed ID: 9288090 [No Abstract] [Full Text] [Related]
6. 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]
7. 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]
8. 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]
10. Seizures induce widespread upregulation of cystatin B, the gene mutated in progressive myoclonus epilepsy, in rat forebrain neurons. D'Amato E; Kokaia Z; Nanobashvili A; Reeben M; Lehesjoki AE; Saarma M; Lindvall O Eur J Neurosci; 2000 May; 12(5):1687-95. PubMed ID: 10792446 [TBL] [Abstract][Full Text] [Related]
11. 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 Ann Neurol; 1997 May; 41(5):686-9. PubMed ID: 9153533 [TBL] [Abstract][Full Text] [Related]
12. Nuclear localization of cystatin B, the cathepsin inhibitor implicated in myoclonus epilepsy (EPM1). Riccio M; Di Giaimo R; Pianetti S; Palmieri PP; Melli M; Santi S Exp Cell Res; 2001 Jan; 262(2):84-94. PubMed ID: 11139332 [TBL] [Abstract][Full Text] [Related]
13. 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 Nature; 1997 Apr; 386(6627):847-51. PubMed ID: 9126745 [TBL] [Abstract][Full Text] [Related]
14. 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 Nat Genet; 1997 Mar; 15(3):298-302. PubMed ID: 9054946 [TBL] [Abstract][Full Text] [Related]
15. Neuronal survival in epilepsy: to die or not to die? Ganesh S; Singh S J Biosci; 2005 Dec; 30(5):561-6. PubMed ID: 16388127 [No Abstract] [Full Text] [Related]
16. Role of the single cysteine residue, Cys 3, of human and bovine cystatin B (stefin B) in the inhibition of cysteine proteinases. Pol E; Björk I Protein Sci; 2001 Sep; 10(9):1729-38. PubMed ID: 11514663 [TBL] [Abstract][Full Text] [Related]
17. [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]
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20. G to C transversion at a splice acceptor site causes exon skipping in the cystatin B gene. Bespalova IN; Pranzatelli M; Burmeister M Mutat Res; 1997 Sep; 382(1-2):67-74. PubMed ID: 9360639 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]