186 related articles for article (PubMed ID: 9342192)
21. 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]
22. Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1.
Virtaneva K; D'Amato E; Miao J; Koskiniemi M; Norio R; Avanzini G; Franceschetti S; Michelucci R; Tassinari CA; Omer S; Pennacchio LA; Myers RM; Dieguez-Lucena JL; Krahe R; de la Chapelle A; Lehesjoki AE
Nat Genet; 1997 Apr; 15(4):393-6. PubMed ID: 9090386
[TBL] [Abstract][Full Text] [Related]
23. 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]
24. 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]
25. 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]
26. Polymerase chain reaction-based analysis using deaminated DNA of dodecamer expansions in CSTB, associated with Unverricht-Lundborg myoclonus epilepsy.
Horiuchi H; Osawa M; Furutani R; Morita M; Tian W; Awatsu Y; Shimazaki H; Umetsu K
Genet Test; 2005; 9(4):328-33. PubMed ID: 16379547
[TBL] [Abstract][Full Text] [Related]
27. A novel c132-134del mutation in Unverricht-Lundborg disease and the review of literature of heterozygous compound patients.
Assenza G; Benvenga A; Gennaro E; Tombini M; Campana C; Assenza F; Di Pino G; Di Lazzaro V
Epilepsia; 2017 Feb; 58(2):e31-e35. PubMed ID: 27888502
[TBL] [Abstract][Full Text] [Related]
28. Protein therapy for Unverricht-Lundborg disease using cystatin B transduction by TAT-PTD. Is it that simple?
Andrade DM; Scherer SW; Minassian BA
Epilepsy Res; 2006 Nov; 72(1):75-9. PubMed ID: 16930946
[TBL] [Abstract][Full Text] [Related]
29. Unverricht-Lundborg disease: homozygosity for a new splicing mutation in the cystatin B gene.
Pinto E; Freitas J; Duarte AJ; Ribeiro I; Ribeiro D; Lima JL; Chaves J; Amaral O
Epilepsy Res; 2012 Mar; 99(1-2):187-90. PubMed ID: 22154554
[TBL] [Abstract][Full Text] [Related]
30. Epilepsy. Protease inhibitor implicated.
McNamara JO; Puranam RS
Nature; 1996 May; 381(6577):26-7. PubMed ID: 8609982
[No Abstract] [Full Text] [Related]
31. Generation of a human induced pluripotent stem cell line (UEFi004-A) from a patient with progressive myoclonic epilepsy type 1 (EPM1).
Singh S; Plotnikova L; Karvonen K; Ryytty S; Hyppönen J; Kälviäinen R; Hämäläinen RH
Stem Cell Res; 2023 Dec; 73():103248. PubMed ID: 37951142
[TBL] [Abstract][Full Text] [Related]
32. 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]
33. Characterization of a rare Unverricht-Lundborg disease mutation.
Duarte AJ; Ribeiro D; Chaves J; Amaral O
Mol Genet Metab Rep; 2015 Sep; 4():68-71. PubMed ID: 26937413
[TBL] [Abstract][Full Text] [Related]
34. Gene perplexes epilepsy researchers.
O'Brien C
Science; 1996 Mar; 271(5256):1672. PubMed ID: 8596927
[No Abstract] [Full Text] [Related]
35. 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]
36. 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
Eur J Hum Genet; 2005 Feb; 13(2):208-15. PubMed ID: 15483648
[TBL] [Abstract][Full Text] [Related]
37. Characterization of the cystatin B gene promoter harboring the dodecamer repeat expanded in progressive myoclonus epilepsy, EPM1.
Alakurtti K; Virtaneva K; Joensuu T; Palvimo JJ; Lehesjoki AE
Gene; 2000 Jan; 242(1-2):65-73. PubMed ID: 10721698
[TBL] [Abstract][Full Text] [Related]
38. Clinical features and genetics of Unverricht-Lundborg disease.
Lehesjoki AE
Adv Neurol; 2002; 89():193-7. PubMed ID: 11968445
[No Abstract] [Full Text] [Related]
39. Juvenile myoclonic epilepsy phenotype in a family with Unverricht-Lundborg disease.
Berrechid AG; Bendjebara M; Bouteiller D; Nasri A; Peuvion JN; Marie Y; Baulac S; Mrabet S; Ribierre T; Cazeneuve C; Imenkacem ; Leguern E; Gouider R
Epileptic Disord; 2019 Aug; 21(4):359-365. PubMed ID: 31368437
[TBL] [Abstract][Full Text] [Related]
40. Unverricht-Lundborg disease.
Crespel A; Ferlazzo E; Franceschetti S; Genton P; Gouider R; Kälviäinen R; Korja M; Lehtinen MK; Mervaala E; Simonato M; Vaarmann A
Epileptic Disord; 2016 Sep; 18(S2):28-37. PubMed ID: 27582036
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]