BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

162 related articles for article (PubMed ID: 9814834)

  • 21. 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]  

  • 22. 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]  

  • 23. Insights into the Genetic Profile of Two Siblings Affected by Unverricht-Lundborg Disease Using Patient-Derived hiPSCs.
    Lucchino V; Scaramuzzino L; Scalise S; Lo Conte M; Zannino C; Benedetto GL; Aguglia U; Ferlazzo E; Cuda G; Parrotta EI
    Cells; 2022 Nov; 11(21):. PubMed ID: 36359887
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Lack of efficacy and potential aggravation of myoclonus with lamotrigine in Unverricht-Lundborg disease.
    Genton P; Gelisse P; Crespel A
    Epilepsia; 2006 Dec; 47(12):2083-5. PubMed ID: 17201707
    [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. 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]  

  • 27. Molecular background of progressive myoclonus epilepsy.
    Lehesjoki AE
    EMBO J; 2003 Jul; 22(14):3473-8. PubMed ID: 12853462
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Genetic testing and the phenotype of Polish patients with Unverricht-Lundborg disease (EPM1) - A cohort study.
    Bosak M; Sułek A; Łukasik M; Żak A; Słowik A; Lasek-Bal A
    Epilepsy Behav; 2020 Nov; 112():107439. PubMed ID: 32920378
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Variable course of Unverricht-Lundborg disease: Early prognostic factors.
    Canafoglia L; Ferlazzo E; Michelucci R; Striano P; Magaudda A; Gambardella A; Pasini E; Belcastro V; Riguzzi P; Fanella M; Granata T; Beccaria F; Trentini C; Bianchi A; Aguglia U; Panzica F; Franceschetti S
    Neurology; 2017 Oct; 89(16):1691-1697. PubMed ID: 28931642
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Unverricht-Lundborg disease: absence of nonallelic genetic heterogeneity.
    Cochius JI; Figlewicz DA; Kälviäinen R; Nousiainen U; Farrell K; Patry G; Söderfeldt B; Frydman M; Lerman P; Andermann F
    Ann Neurol; 1993 Nov; 34(5):739-41. PubMed ID: 8239570
    [TBL] [Abstract][Full Text] [Related]  

  • 31. No evidence of a role for cystatin B gene in juvenile myoclonic epilepsy.
    Mumoli L; Tarantino P; Michelucci R; Bianchi A; Labate A; Franceschetti S; Marini C; Striano P; Gagliardi M; Ferlazzo E; Sofia V; Pennese L; Annesi G; Aguglia U; Guerrini R; Zara F; Gambardella A;
    Epilepsia; 2015 Apr; 56(4):e40-3. PubMed ID: 25752200
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Univerricht-Lundborg disease: underdiagnosed in the Netherlands.
    de Haan GJ; Halley DJ; Doelman JC; Geesink HH; Augustijn PB; Jager-Jongkind AD; Majoie M; Bader AJ; Leliefeld-Ten Doeschate LA; Deelen WH; Bertram E; Lehesjoki AE; Lindhout D
    Epilepsia; 2004 Sep; 45(9):1061-3. PubMed ID: 15329070
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Chloral hydrate for progressive myoclonus epilepsy: a new look at an old drug.
    Pranzatelli MR; Tate ED
    Pediatr Neurol; 2001 Nov; 25(5):385-9. PubMed ID: 11744313
    [TBL] [Abstract][Full Text] [Related]  

  • 34. 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]  

  • 35. [Familial progressive myoclonus epilepsy (Unverricht/Lundborg)].
    Herbst A
    Psychiatr Neurol Med Psychol Beih; 1967; 6():18-39. PubMed ID: 5006319
    [No Abstract]   [Full Text] [Related]  

  • 36. 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]  

  • 37. [Clinical and electroencephalographic characteristics of Jeavons syndrome].
    Yang ZX; Liu XY; Qin J; Zhang YH
    Zhonghua Er Ke Za Zhi; 2012 Jun; 50(6):445-9. PubMed ID: 22931943
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Idiopathic generalised epilepsy of adult onset: clinical syndromes and genetics.
    Marini C; King MA; Archer JS; Newton MR; Berkovic SF
    J Neurol Neurosurg Psychiatry; 2003 Feb; 74(2):192-6. PubMed ID: 12531947
    [TBL] [Abstract][Full Text] [Related]  

  • 39. 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]  

  • 40. Lafora disease is not linked to the Unverricht-Lundborg locus.
    Labauge P; Beck C; Bellet H; Coquillat G; Vespignani H; Dulac O; Gilgenkrantz S; Dravet C; Genton P; Pellissier JF
    Am J Med Genet; 1995 Feb; 60(1):80-4. PubMed ID: 7485240
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.