Results 91 to 100 of about 583 (101)

Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2B) on 6p22

Journal of Medical Genetics, 2003
Dennis E Bulman, Andrew D Paterson, Eva Andermann   +2 more
exaly  

Sodium selenate treatment improves symptoms and seizure susceptibility in a malin‐deficient mouse model of Lafora disease

Epilepsia, 2017
Gentzane Sánchez-Elexpuru, JOSÉ M Serratosa, Marina P Sanchez   +2 more
exaly  

Clinical and Genetic Findings in 26 Italian Patients with Lafora Disease

Epilepsia, 2006
Silvana Franceschetti, Antonio Gambardella, Laura Canafoglia   +2 more
exaly  

Glycogen Phosphomonoester Distribution in Mouse Models of the Progressive Myoclonic Epilepsy, Lafora Disease

Journal of Biological Chemistry, 2015
, Parastoo Azadi, Peter J Roach
exaly  

Adeno-Associated Virus-Based Gene Therapy for Lafora Disease in Epm2b-Deficient Mice

International Journal of Molecular Sciences
Luis Zafra-Puerta, Nerea Iglesias-Cabeza, Pascual Sanz   +2 more
exaly  

Lafora bodies and neurological defects in malin-deficient mice correlate with impaired autophagy

Human Molecular Genetics, 2012
Carmen Aguado, Javier Gayarre, Santiago Vernia   +2 more
exaly  

Laforin and Malin Deletions in Mice Produce Similar Neurologic Impairments

Journal of Neuropathology and Experimental Neurology, 2012
Ainhoa Marinas, Rosa Guerrero, Santiago Rodríguez de Cordoba   +2 more
exaly  

Genetic Depletion of the Malin E3 Ubiquitin Ligase in Mice Leads to Lafora Bodies and the Accumulation of Insoluble Laforin

Journal of Biological Chemistry, 2010
Vincent S Tagliabracci, JOSÉ M Irimia, Peter J Roach   +2 more
exaly  

Epm2b and Epm2b knock-in mouse models of Lafora disease exhibit distinct and pronounced neurological alterations

Progress in Neurobiology
Nerea Iglesias-Cabeza, Carolyn A Worby, JOSÉ M Serratosa   +2 more
exaly  

OPL174 Late onset and slow progressing Lafora Disease in four siblings with EPM2B mutation

Journal of the Neurological Sciences, 2005
exaly