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Page 1
Lafora disease.
Turnbull J, Tiberia E, Striano P, Genton P, Carpenter S, Ackerley CA, Minassian BA. Turnbull J, et al. Epileptic Disord. 2016 Sep 1;18(S2):38-62. doi: 10.1684/epd.2016.0842. Epileptic Disord. 2016. PMID: 27702709 Free PMC article. Review.
Lafora disease (LD) is an autosomal recessive progressive myoclonus epilepsy due to mutations in the EPM2A (laforin) and EPM2B (malin) genes, with no substantial genotype-phenotype differences between the two. ...Diagnosis and genetic counseling are important aspect …
Lafora disease (LD) is an autosomal recessive progressive myoclonus epilepsy due to mutations in the EPM2A (laforin) and EPM2B …
Lafora disease: Current biology and therapeutic approaches.
Mitra S, Gumusgoz E, Minassian BA. Mitra S, et al. Rev Neurol (Paris). 2022 Apr;178(4):315-325. doi: 10.1016/j.neurol.2021.06.006. Epub 2021 Jul 21. Rev Neurol (Paris). 2022. PMID: 34301405 Free PMC article. Review.
However, little is known about its role in neurodegenerative diseases due to disturbances of glycogen metabolism such as Lafora disease (LD). In LD, insufficiently branched and long-chained glycogen forms and precipitates into insoluble polyglucosan bodies (Lafor …
However, little is known about its role in neurodegenerative diseases due to disturbances of glycogen metabolism such as Lafora di …
Lafora Disease.
Ibrahim F, Murr NI. Ibrahim F, et al. 2024 Feb 29. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan–. 2024 Feb 29. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan–. PMID: 29489177 Free Books & Documents.
Pathologically, Lafora disease is associated with polyglucosan deposits, also known as Lafora bodies, in the brain, liver, muscles, and sweat glands. ...No curative treatments or preventative interventions are available at present for Lafora disease …
Pathologically, Lafora disease is associated with polyglucosan deposits, also known as Lafora bodies, in the brain, liv …
[Lafora disease: a review of the literature].
Desdentado L, Espert R, Sanz P, Tirapu-Ustarroz J. Desdentado L, et al. Rev Neurol. 2019 Jan 16;68(2):66-74. Rev Neurol. 2019. PMID: 30638256 Free PMC article. Review.
Pathologically, Lafora disease is characterized by the presence of polyglucosans deposits (named Lafora bodies), in the brain, liver, muscle and sweat glands. Diagnosis of Lafora disease is made through clinical, electrophysiological, histologic …
Pathologically, Lafora disease is characterized by the presence of polyglucosans deposits (named Lafora bodies), in the …
Lafora Disease: A Ubiquitination-Related Pathology.
García-Gimeno MA, Knecht E, Sanz P. García-Gimeno MA, et al. Cells. 2018 Jul 26;7(8):87. doi: 10.3390/cells7080087. Cells. 2018. PMID: 30050012 Free PMC article. Review.
Lafora disease (LD, OMIM254780) is a rare and fatal form of progressive myoclonus epilepsy (PME). Among PMEs, LD is unique because of the rapid neurological deterioration of the patients and the appearance in brain and peripheral tissues of insoluble glycogen-like ( …
Lafora disease (LD, OMIM254780) is a rare and fatal form of progressive myoclonus epilepsy (PME). Among PMEs, LD is unique bec …
Lafora disease - from pathogenesis to treatment strategies.
Nitschke F, Ahonen SJ, Nitschke S, Mitra S, Minassian BA. Nitschke F, et al. Nat Rev Neurol. 2018 Oct;14(10):606-617. doi: 10.1038/s41582-018-0057-0. Nat Rev Neurol. 2018. PMID: 30143794 Free PMC article. Review.
Lafora disease is a severe, autosomal recessive, progressive myoclonus epilepsy. The disease usually manifests in previously healthy adolescents, and death commonly occurs within 10 years of symptom onset. Lafora disease is caused by loss-of-fun …
Lafora disease is a severe, autosomal recessive, progressive myoclonus epilepsy. The disease usually manifests in previ …
Lafora disease: from genotype to phenotype.
Parihar R, Rai A, Ganesh S. Parihar R, et al. J Genet. 2018 Jul;97(3):611-624. J Genet. 2018. PMID: 30027899 Review.
The progressive myoclonic epilepsy of Lafora or Lafora disease (LD) is a neurodegenerative disorder characterized by recurrent seizures and cognitive deficits. ...LD is characterized by the presence of abnormally branched water insoluble glycogen inclusions k …
The progressive myoclonic epilepsy of Lafora or Lafora disease (LD) is a neurodegenerative disorder characterized by re …
Glial Contributions to Lafora Disease: A Systematic Review.
Della Vecchia S, Marchese M, Santorelli FM. Della Vecchia S, et al. Biomedicines. 2022 Dec 1;10(12):3103. doi: 10.3390/biomedicines10123103. Biomedicines. 2022. PMID: 36551859 Free PMC article. Review.
BACKGROUND: Lafora disease (LD) is a neurodegenerative condition characterized by the accumulation of polyglucosan bodies (PBs) throughout the brain. ...Although LD has long been dominated by a neuronocentric view, a growing body of evidence suggests a role of glial …
BACKGROUND: Lafora disease (LD) is a neurodegenerative condition characterized by the accumulation of polyglucosan bodies (PBs …
Treating Lafora Disease with an Antibody-Enzyme Fusion.
Gentry MS, Markussen KH, Sun RC, Vander Kooi CW. Gentry MS, et al. In: Noebels JL, Avoli M, Rogawski MA, Vezzani A, Delgado-Escueta AV, editors. Jasper's Basic Mechanisms of the Epilepsies. 5th edition. New York: Oxford University Press; 2024. Chapter 55. In: Noebels JL, Avoli M, Rogawski MA, Vezzani A, Delgado-Escueta AV, editors. Jasper's Basic Mechanisms of the Epilepsies. 5th edition. New York: Oxford University Press; 2024. Chapter 55. PMID: 39637175 Free Books & Documents. Review.
Lafora disease (LD) is a horrendous progressive myoclonic epilepsy that strikes healthy teenagers and leads to ever-worsening seizures with no relief from antiepileptic drugs; it then transitions to rapid dementia that ends in death typically after 10 years of onset …
Lafora disease (LD) is a horrendous progressive myoclonic epilepsy that strikes healthy teenagers and leads to ever-worsening …
Lafora disease offers a unique window into neuronal glycogen metabolism.
Gentry MS, Guinovart JJ, Minassian BA, Roach PJ, Serratosa JM. Gentry MS, et al. J Biol Chem. 2018 May 11;293(19):7117-7125. doi: 10.1074/jbc.R117.803064. Epub 2018 Feb 26. J Biol Chem. 2018. PMID: 29483193 Free PMC article. Review.
Lafora disease (LD) is a fatal, autosomal recessive, glycogen-storage disorder that manifests as severe epilepsy. ...
Lafora disease (LD) is a fatal, autosomal recessive, glycogen-storage disorder that manifests as severe epilepsy. ...
734 results