BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

198 related articles for article (PubMed ID: 11968446)

  • 1. Progressive myoclonus epilepsy with polyglucosan bodies: Lafora disease.
    Minassian BA
    Adv Neurol; 2002; 89():199-210. PubMed ID: 11968446
    [No Abstract]   [Full Text] [Related]  

  • 2. Laforin preferentially binds the neurotoxic starch-like polyglucosans, which form in its absence in progressive myoclonus epilepsy.
    Chan EM; Ackerley CA; Lohi H; Ianzano L; Cortez MA; Shannon P; Scherer SW; Minassian BA
    Hum Mol Genet; 2004 Jun; 13(11):1117-29. PubMed ID: 15102711
    [TBL] [Abstract][Full Text] [Related]  

  • 3. [Lafora disease].
    Antoku Y
    Ryoikibetsu Shokogun Shirizu; 2002; (37 Pt 6):249-51. PubMed ID: 12483873
    [No Abstract]   [Full Text] [Related]  

  • 4. Novel human pathological mutations. Gene symbol: EPM2A. Disease: Lafora progressive myoclonus epilepsy.
    Trujillo-Tiebas MJ; Fenollar-Cortés M; Gómez-Garré P; Lorda-Sánchez I; Serratosa JM; Ayuso García C
    Hum Genet; 2007 Jun; 121(5):651. PubMed ID: 17879451
    [No Abstract]   [Full Text] [Related]  

  • 5. Two novel mutations in the EPM2A gene in a Korean patient with Lafora's progressive myoclonus epilepsy.
    Ki CS; Kong SY; Seo DW; Hong SB; Kim HJ; Kim JW
    J Hum Genet; 2003; 48(1):51-4. PubMed ID: 12560877
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Lafora's disease: towards a clinical, pathologic, and molecular synthesis.
    Minassian BA
    Pediatr Neurol; 2001 Jul; 25(1):21-9. PubMed ID: 11483392
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions.
    Gómez-Garre P; Sanz Y; Rodríguez De Córdoba SR; Serratosa JM
    Eur J Hum Genet; 2000 Dec; 8(12):946-54. PubMed ID: 11175283
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Advances in lafora progressive myoclonus epilepsy.
    Delgado-Escueta AV
    Curr Neurol Neurosci Rep; 2007 Sep; 7(5):428-33. PubMed ID: 17764634
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Lafora disease. A new case of confirmation of diagnosis on molecular genetic studies].
    Martínez-Bermejo A; López-Martín V; Serratosa JM; Gutiérrez-Molina M; Gómez-Garre P; Arcas J; Tendero A; Roche C; Pérez-Mies B
    Rev Neurol; 2002 Jan 16-31; 34(2):117-20. PubMed ID: 11988905
    [TBL] [Abstract][Full Text] [Related]  

  • 10. The carbohydrate-binding domain of Lafora disease protein targets Lafora polyglucosan bodies.
    Ganesh S; Tsurutani N; Suzuki T; Hoshii Y; Ishihara T; Delgado-Escueta AV; Yamakawa K
    Biochem Biophys Res Commun; 2004 Jan; 313(4):1101-9. PubMed ID: 14706656
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Typical progression of myoclonic epilepsy of the Lafora type: a case report.
    Striano P; Zara F; Turnbull J; Girard JM; Ackerley CA; Cervasio M; De Rosa G; Del Basso-De Caro ML; Striano S; Minassian BA
    Nat Clin Pract Neurol; 2008 Feb; 4(2):106-11. PubMed ID: 18256682
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Laforin is a cell membrane and endoplasmic reticulum-associated protein tyrosine phosphatase.
    Minassian BA; Andrade DM; Ianzano L; Young EJ; Chan E; Ackerley CA; Scherer SW
    Ann Neurol; 2001 Feb; 49(2):271-5. PubMed ID: 11220751
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Laforin in autophagy: a possible link between carbohydrate and protein in Lafora disease?
    Puri R; Ganesh S
    Autophagy; 2010 Nov; 6(8):1229-31. PubMed ID: 20818153
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Transcriptional profiling of a mouse model for Lafora disease reveals dysregulation of genes involved in the expression and modification of proteins.
    Ganesh S; Tsurutani N; Amano K; Mittal S; Uchikawa C; Delgado-Escueta AV; Yamakawa K
    Neurosci Lett; 2005 Oct; 387(2):62-7. PubMed ID: 16084644
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Glycogen hyperphosphorylation underlies lafora body formation.
    Turnbull J; Wang P; Girard JM; Ruggieri A; Wang TJ; Draginov AG; Kameka AP; Pencea N; Zhao X; Ackerley CA; Minassian BA
    Ann Neurol; 2010 Dec; 68(6):925-33. PubMed ID: 21077101
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A novel exon 3 mutation in a Tunisian patient with Lafora's disease.
    Khiari HM; Lesca G; Malafosse A; Mrabet A
    J Neurol Sci; 2011 May; 304(1-2):136-7. PubMed ID: 21371719
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Clinical and genetic studies in patients with Lafora disease from Pakistan.
    Ahmad A; Dad R; Ullah MI; Baig TA; Ahmad IN; Nasir A; Hübner CA; Hassan MJ
    J Neurol Sci; 2017 Feb; 373():263-267. PubMed ID: 28131202
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Progressive myoclonus epilepsies: EPM1, EPM2A, EPM2B.
    Chan EM; Andrade DM; Franceschetti S; Minassian B
    Adv Neurol; 2005; 95():47-57. PubMed ID: 15508913
    [No Abstract]   [Full Text] [Related]  

  • 19. PTG depletion removes Lafora bodies and rescues the fatal epilepsy of Lafora disease.
    Turnbull J; DePaoli-Roach AA; Zhao X; Cortez MA; Pencea N; Tiberia E; Piliguian M; Roach PJ; Wang P; Ackerley CA; Minassian BA
    PLoS Genet; 2011 Apr; 7(4):e1002037. PubMed ID: 21552327
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Hepatic disease as the first manifestation of progressive myoclonus epilepsy of Lafora.
    Gómez-Garre P; Gutiérrez-Delicado E; Gómez-Abad C; Morales-Corraliza J; Villanueva VE; Rodríguez de Córdoba S; Larrauri J; Gutiérrez M; Berciano J; Serratosa JM
    Neurology; 2007 Apr; 68(17):1369-73. PubMed ID: 17452581
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.