These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

367 related articles for article (PubMed ID: 22961547)

  • 21. Increased endoplasmic reticulum stress and decreased proteasomal function in lafora disease models lacking the phosphatase laforin.
    Vernia S; Rubio T; Heredia M; Rodríguez de Córdoba S; Sanz P
    PLoS One; 2009 Jun; 4(6):e5907. PubMed ID: 19529779
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Lafora disease.
    Turnbull J; Tiberia E; Striano P; Genton P; Carpenter S; Ackerley CA; Minassian BA
    Epileptic Disord; 2016 Sep; 18(S2):38-62. PubMed ID: 27702709
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Accumulation of Laforin and Other Related Proteins in Canine Lafora Disease With EPM2B Repeat Expansion.
    Chambers JK; Thongtharb A; Shiga T; Azakami D; Saito M; Sato M; Morozumi M; Nakayama H; Uchida K
    Vet Pathol; 2018 Jul; 55(4):543-551. PubMed ID: 29444631
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Lafora Disease: A Review of Molecular Mechanisms and Pathology.
    Verhalen B; Arnold S; Minassian BA
    Neuropediatrics; 2018 Dec; 49(6):357-362. PubMed ID: 30336494
    [TBL] [Abstract][Full Text] [Related]  

  • 25. A PTG variant contributes to a milder phenotype in Lafora disease.
    Guerrero R; Vernia S; Sanz R; Abreu-Rodríguez I; Almaraz C; García-Hoyos M; Michelucci R; Tassinari CA; Riguzzi P; Nobile C; Sanz P; Serratosa JM; Gómez-Garre P
    PLoS One; 2011; 6(6):e21294. PubMed ID: 21738631
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Novel glycogen synthase kinase 3 and ubiquitination pathways in progressive myoclonus epilepsy.
    Lohi H; Ianzano L; Zhao XC; Chan EM; Turnbull J; Scherer SW; Ackerley CA; Minassian BA
    Hum Mol Genet; 2005 Sep; 14(18):2727-36. PubMed ID: 16115820
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Neuronatin-mediated aberrant calcium signaling and endoplasmic reticulum stress underlie neuropathology in Lafora disease.
    Sharma J; Mukherjee D; Rao SN; Iyengar S; Shankar SK; Satishchandra P; Jana NR
    J Biol Chem; 2013 Mar; 288(13):9482-90. PubMed ID: 23408434
    [TBL] [Abstract][Full Text] [Related]  

  • 28. [Lafora disease: a review of the literature].
    Desdentado L; Espert R; Sanz P; Tirapu-Ustarroz J
    Rev Neurol; 2019 Jan; 68(2):66-74. PubMed ID: 30638256
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Lafora disease ubiquitin ligase malin promotes proteasomal degradation of neuronatin and regulates glycogen synthesis.
    Sharma J; Rao SN; Shankar SK; Satishchandra P; Jana NR
    Neurobiol Dis; 2011 Oct; 44(1):133-41. PubMed ID: 21742036
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Lafora progressive Myoclonus Epilepsy mutation database-EPM2A and NHLRC1 (EPM2B) genes.
    Ianzano L; Zhang J; Chan EM; Zhao XC; Lohi H; Scherer SW; Minassian BA
    Hum Mutat; 2005 Oct; 26(4):397. PubMed ID: 16134145
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Lafora disease - from pathogenesis to treatment strategies.
    Nitschke F; Ahonen SJ; Nitschke S; Mitra S; Minassian BA
    Nat Rev Neurol; 2018 Oct; 14(10):606-617. PubMed ID: 30143794
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Laforin targets malin to glycogen in Lafora progressive myoclonus epilepsy.
    Mitra S; Chen B; Wang P; Chown EE; Dear M; Guisso DR; Mariam U; Wu J; Gumusgoz E; Minassian BA
    Dis Model Mech; 2023 Jan; 16(1):. PubMed ID: 36511140
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Lafora disease: from genotype to phenotype.
    Parihar R; Rai A; Ganesh S
    J Genet; 2018 Jul; 97(3):611-624. PubMed ID: 30027899
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Gene therapy for Lafora disease in the Epm2a
    Zafra-Puerta L; Iglesias-Cabeza N; Burgos DF; Sciaccaluga M; González-Fernández J; Bellingacci L; Canonichesi J; Sánchez-Martín G; Costa C; Sánchez MP; Serratosa JM
    Mol Ther; 2024 Jul; 32(7):2130-2149. PubMed ID: 38796707
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Oxidative stress, a new hallmark in the pathophysiology of Lafora progressive myoclonus epilepsy.
    Romá-Mateo C; Aguado C; García-Giménez JL; Knecht E; Sanz P; Pallardó FV
    Free Radic Biol Med; 2015 Nov; 88(Pt A):30-41. PubMed ID: 25680286
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Severe and rapidly-progressive Lafora disease associated with NHLRC1 mutation: a case report.
    Casciato S; Gambardella S; Mascia A; Quarato PP; D'Aniello A; Ackurina Y; Albano V; Fornai F; Scala S; Di Gennaro G
    Int J Neurosci; 2017 Dec; 127(12):1150-1153. PubMed ID: 28556688
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Lafora disease: Current biology and therapeutic approaches.
    Mitra S; Gumusgoz E; Minassian BA
    Rev Neurol (Paris); 2022 Apr; 178(4):315-325. PubMed ID: 34301405
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Loss of laforin or malin results in increased Drp1 level and concomitant mitochondrial fragmentation in Lafora disease mouse models.
    Upadhyay M; Agarwal S; Bhadauriya P; Ganesh S
    Neurobiol Dis; 2017 Apr; 100():39-51. PubMed ID: 28063983
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Targeted disruption of the Epm2a gene causes formation of Lafora inclusion bodies, neurodegeneration, ataxia, myoclonus epilepsy and impaired behavioral response in mice.
    Ganesh S; Delgado-Escueta AV; Sakamoto T; Avila MR; Machado-Salas J; Hoshii Y; Akagi T; Gomi H; Suzuki T; Amano K; Agarwala KL; Hasegawa Y; Bai DS; Ishihara T; Hashikawa T; Itohara S; Cornford EM; Niki H; Yamakawa K
    Hum Mol Genet; 2002 May; 11(11):1251-62. PubMed ID: 12019206
    [TBL] [Abstract][Full Text] [Related]  

  • 40.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 19.