161 related articles for article (PubMed ID: 17319918)
1. Seizures, ataxia, and neuronal loss in cystatin B heterozygous mice.
Kaasik A; Kuum M; Aonurm A; Kalda A; Vaarmann A; Zharkovsky A
Epilepsia; 2007 Apr; 48(4):752-7. PubMed ID: 17319918
[TBL] [Abstract][Full Text] [Related]
2. Altered tryptophan metabolism in the brain of cystatin B-deficient mice: a model system for progressive myoclonus epilepsy.
Vaarmann A; Kaasik A; Zharkovsky A
Epilepsia; 2006 Oct; 47(10):1650-4. PubMed ID: 17054687
[TBL] [Abstract][Full Text] [Related]
3. Molecular background of EPM1-Unverricht-Lundborg disease.
Joensuu T; Lehesjoki AE; Kopra O
Epilepsia; 2008 Apr; 49(4):557-63. PubMed ID: 18028412
[TBL] [Abstract][Full Text] [Related]
4. Progressive ataxia, myoclonic epilepsy and cerebellar apoptosis in cystatin B-deficient mice.
Pennacchio LA; Bouley DM; Higgins KM; Scott MP; Noebels JL; Myers RM
Nat Genet; 1998 Nov; 20(3):251-8. PubMed ID: 9806543
[TBL] [Abstract][Full Text] [Related]
5. Severer phenotype in Unverricht-Lundborg disease (EPM1) patients compound heterozygous for the dodecamer repeat expansion and the c.202C>T mutation in the CSTB gene.
Koskenkorva P; Hyppönen J; Aikiä M; Mervaala E; Kiviranta T; Eriksson K; Lehesjoki AE; Vanninen R; Kälviäinen R
Neurodegener Dis; 2011; 8(6):515-22. PubMed ID: 21757863
[TBL] [Abstract][Full Text] [Related]
6. A pathogenetic hypothesis of Unverricht-Lundborg disease onset and progression.
Franceschetti S; Sancini G; Buzzi A; Zucchini S; Paradiso B; Magnaghi G; Frassoni C; Chikhladze M; Avanzini G; Simonato M
Neurobiol Dis; 2007 Mar; 25(3):675-85. PubMed ID: 17188503
[TBL] [Abstract][Full Text] [Related]
7. Protein aggregation as a possible cause for pathology in a subset of familial Unverricht-Lundborg disease.
Ceru S; Rabzelj S; Kopitar-Jerala N; Turk V; Zerovnik E
Med Hypotheses; 2005; 64(5):955-9. PubMed ID: 15780491
[TBL] [Abstract][Full Text] [Related]
8. Clinical picture of EPM1-Unverricht-Lundborg disease.
Kälviäinen R; Khyuppenen J; Koskenkorva P; Eriksson K; Vanninen R; Mervaala E
Epilepsia; 2008 Apr; 49(4):549-56. PubMed ID: 18325013
[TBL] [Abstract][Full Text] [Related]
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
Eur J Hum Genet; 2007 Feb; 15(2):185-93. PubMed ID: 17003839
[TBL] [Abstract][Full Text] [Related]
10. Clinical features and genetics of Unverricht-Lundborg disease.
Lehesjoki AE
Adv Neurol; 2002; 89():193-7. PubMed ID: 11968445
[No Abstract] [Full Text] [Related]
11. Early microglial activation precedes neuronal loss in the brain of the Cstb-/- mouse model of progressive myoclonus epilepsy, EPM1.
Tegelberg S; Kopra O; Joensuu T; Cooper JD; Lehesjoki AE
J Neuropathol Exp Neurol; 2012 Jan; 71(1):40-53. PubMed ID: 22157618
[TBL] [Abstract][Full Text] [Related]
12. Neuropathological changes in a mouse model of progressive myoclonus epilepsy: cystatin B deficiency and Unverricht-Lundborg disease.
Shannon P; Pennacchio LA; Houseweart MK; Minassian BA; Myers RM
J Neuropathol Exp Neurol; 2002 Dec; 61(12):1085-91. PubMed ID: 12484571
[TBL] [Abstract][Full Text] [Related]
13. Electroclinical presentation and genotype-phenotype relationships in patients with Unverricht-Lundborg disease carrying compound heterozygous CSTB point and indel mutations.
Canafoglia L; Gennaro E; Capovilla G; Gobbi G; Boni A; Beccaria F; Viri M; Michelucci R; Agazzi P; Assereto S; Coviello DA; Di Stefano M; Rossi Sebastiano D; Franceschetti S; Zara F
Epilepsia; 2012 Dec; 53(12):2120-7. PubMed ID: 23205931
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Unverricht-Lundborg progressive myoclonus epilepsy in Oman.
Santoshkumar B; Turnbull J; Minassian BA
Pediatr Neurol; 2008 Apr; 38(4):252-5. PubMed ID: 18358403
[TBL] [Abstract][Full Text] [Related]
16. White matter degeneration with Unverricht-Lundborg progressive myoclonus epilepsy: a translational diffusion-tensor imaging study in patients and cystatin B-deficient mice.
Manninen O; Koskenkorva P; Lehtimäki KK; Hyppönen J; Könönen M; Laitinen T; Kalimo H; Kopra O; Kälviäinen R; Gröhn O; Lehesjoki AE; Vanninen R
Radiology; 2013 Oct; 269(1):232-9. PubMed ID: 23788720
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Cystatin B deficiency sensitizes neurons to oxidative stress in progressive myoclonus epilepsy, EPM1.
Lehtinen MK; Tegelberg S; Schipper H; Su H; Zukor H; Manninen O; Kopra O; Joensuu T; Hakala P; Bonni A; Lehesjoki AE
J Neurosci; 2009 May; 29(18):5910-5. PubMed ID: 19420257
[TBL] [Abstract][Full Text] [Related]
19. Refining the phenotype of Unverricht-Lundborg disease (EPM1): a population-wide Finnish study.
Hyppönen J; Äikiä M; Joensuu T; Julkunen P; Danner N; Koskenkorva P; Vanninen R; Lehesjoki AE; Mervaala E; Kälviäinen R
Neurology; 2015 Apr; 84(15):1529-36. PubMed ID: 25770194
[TBL] [Abstract][Full Text] [Related]
20. DNA deamination enables direct PCR amplification of the cystatin B (CSTB) gene-associated dodecamer repeat expansion in myoclonus epilepsy type Unverricht-Lundborg.
Weinhaeusel A; Morris MA; Antonarakis SE; Haas OA
Hum Mutat; 2003 Nov; 22(5):404-8. PubMed ID: 14517952
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
