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Clinicopathologic Dissociation: Robust Lafora Body Accumulation in Malin KO Mice Without Observable Changes in Home-cage Behavior

Lafora Disease (LD) is a syndrome of progressive myoclonic epilepsy and cumulative neurocognitive deterioration caused by recessively inherited genetic lesions of EPM2A (laforin) or NHLRC1 (malin). Neuropsychiatric symptomatology in LD is thought to be directly downstream of neuronal and astrocytic...

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Detalles Bibliográficos
Autores principales: Krishnan, Vaishnav, Wu, Jun, Mazumder, Arindam Ghosh, Kamen, Jessica L., Schirmer, Catharina, Adhyapak, Nandani, Bass, John Samuel, Lee, Samuel C., Maheshwari, Atul, Molinaro, Gemma, Gibson, Jay R., Huber, Kimberly M., Minassian, Berge A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10515855/
https://www.ncbi.nlm.nih.gov/pubmed/37745312
http://dx.doi.org/10.1101/2023.09.11.557226