Results 131 to 140 of about 4,843,940 (181)

Dapagliflozin ameliorates Lafora disease phenotype in a zebrafish model.

Biomed Pharmacother
Della Vecchia S, Imbrici P, Liantonio A, Naef V, Damiani D, Licitra R, Bernardi S, Marchese M, Santorelli FM.   +8 more
europepmc   +1 more source

¹H and ³¹P magnetic resonance spectroscopy reveals potential pathogenic and biomarker metabolite alterations in Lafora disease. [PDF]

Brain Commun
Chan KL, Panatpur A, Messahel S, Dahshi H, Johnson T, Henning A, Ren J, Minassian BA.   +7 more
europepmc   +1 more source

Correction for Article Title "The laforin-malin complex, involved in Lafora disease, promotes the incorporation of K63-linked ubiquitin chains into AMP-activated protein kinase beta subunits". [PDF]

Mol Biol Cell
europepmc   +1 more source

Beneficial Effect of Fingolimod in a Lafora Disease Mouse Model by Preventing Reactive Astrogliosis-Derived Neuroinflammation and Brain Infiltration of T-lymphocytes. [PDF]

Mol Neurobiol
Rubio T, Campos-Rodríguez Á, Sanz P.
europepmc   +1 more source

[Lafora disease (author's transl)].

Revue d'electroencephalographie et de neurophysiologie clinique, 1978
On the basis of 21 personal observations as well as those (82) from the litterature, it is concluded that the progressive myoclonic epilepsy with Lafora bodies (P.M.E.) constitutes a disease on its own. The clinical features are those described in the litterature observations and completed by some characteristics; the high frequency of visual symptoms (
C. A. Tassinari, M. Bureau Paillas, DALLA BERNARDINA, Bernardo, I. Picornell Darder, M. C. Mouren, C. Dravet, J. Roger   +6 more
core   +5 more sources

Astrocytic glycogen accumulation drives the pathophysiology of neurodegeneration in Lafora disease [PDF]

Brain, 2021
The hallmark of Lafora disease, a fatal neurodegenerative disorder, is the accumulation of intracellular glycogen aggregates, called Lafora bodies. Until recently, it was widely believed that brain Lafora bodies were present exclusively in neurons and ...
Matthew Gentry, Iliana López-Soldado, Kia H Markussen   +2 more
exaly   +2 more sources

Abnormal glycogen chain length pattern, not hyperphosphorylation, is critical in Lafora disease [PDF]

EMBO Molecular Medicine, 2017
12 p.-7 fig. Nitschke, Felix et al.Lafora disease (LD) is a fatal progressive epilepsy essentially caused by loss-of-function mutations in the glycogen phosphatase laforin or the ubiquitin E3 ligase malin.
Santiago Rodríguez de Cordoba, Mitchell Sullivan, Xiaochu Zhao   +2 more
exaly   +2 more sources

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Lafora Disease

CNS Drugs, 2010
Lafora disease is a rare, fatal, autosomal recessive, progressive myoclonic epilepsy. It may also be considered as a disorder of carbohydrate metabolism because of the formation of polyglucosan inclusion bodies in neural and other tissues due to abnormalities of the proteins laforin or malin.
Thomas S, Monaghan, Norman, Delanty
  +6 more sources