Results 1 to 10 of about 845 (152)

PTG depletion removes Lafora bodies and rescues the fatal epilepsy of Lafora disease. [PDF]

PLoS Genetics, 2011
Lafora disease is the most common teenage-onset neurodegenerative disease, the main teenage-onset form of progressive myoclonus epilepsy (PME), and one of the severest epilepsies.
Julie Turnbull, Anna A DePaoli-Roach, Xiaochu Zhao, Miguel A Cortez, Nela Pencea, Erica Tiberia, Mark Piliguian, Peter J Roach, Peixiang Wang, Cameron A Ackerley, Berge A Minassian   +10 more
doaj   +5 more sources

Advances in gene therapy for Lafora disease: Intravenous recombinant adeno‐associated virus‐mediated delivery of EPM2A and EPM2B genes [PDF]

Clinical and Translational Medicine
Background Lafora disease is a rare and fatal form of progressive myoclonus epilepsy that typically manifests in late childhood, presenting with seizures and progressive neurological decline.
Luis Zafra‐Puerta, Nerea Iglesias‐Cabeza, Miriam Sciaccaluga, Laura Bellingacci, Jacopo Canonichesi, Gema Sánchez‐Martín, Cinzia Costa, Marina P. Sánchez, José M. Serratosa   +8 more
doaj   +3 more sources

Targeting Pathogenic Lafora Bodies in Lafora Disease Using an Antibody-Enzyme Fusion [PDF]

Cell Metabolism, 2019
Lafora disease (LD) is a fatal childhood epilepsy caused by recessive mutations in either the EPM2A or EPM2B gene. A hallmark of LD is the intracellular accumulation of insoluble polysaccharide deposits known as Lafora bodies (LBs) in the brain and other tissues.
M Kathryn Brewer, Grant L Austin, Peter J Roach   +2 more
exaly   +6 more sources

Lafora disease gene therapy: EPM2A but not EPM2B overexpression results in Lafora body formation [PDF]

Neurotherapeutics
Lafora disease (LD) is a fatal teenage-onset neurodegenerative epilepsy caused by loss-of-function mutations of the genes encoding the laforin phosphatase-malin E3 ubiquitin ligase complex.
Esther O. Alao, Mehrnaz Sheibani, Jun Wu, Ummay Marriam, Doretha Evans, Sahba Kasiri, Mayank Verma, Silvia Nitschke, Felix Nitschke, Steven J. Gray, Sharmistha Mitra, Berge A. Minassian   +11 more
doaj   +3 more sources

Lafora Disease: A Case Report and Evolving Treatment Advancements [PDF]

Brain Sciences, 2023
Lafora disease is a rare genetic disorder characterized by a disruption in glycogen metabolism. It manifests as progressive myoclonus epilepsy and cognitive decline during adolescence.
Carola Rita Ferrari Aggradi, Martina Rimoldi, Gloria Romagnoli, Daniele Velardo, Megi Meneri, Davide Iacobucci, Michela Ripolone, Laura Napoli, Patrizia Ciscato, Maurizio Moggio, Giacomo Pietro Comi, Dario Ronchi, Stefania Corti, Elena Abati   +13 more
doaj   +2 more sources

Case report of Lafora disease: a rare genetic disorder manifesting as progressive myoclonic epilepsy [PDF]

BMC Neurology
Background Lafora disease (LD) is a rare, autosomal recessive progressive myoclonic epilepsy caused by mutations in EPM2A or EPM2B. It is characterized by abnormal glycogen metabolism leading to poly-glucosan deposits, known as Lafora bodies, in various ...
Ramtin Naderian, Farzane Vafaeian, Seyyed Mohamad Hoseini, Samira Sanami   +3 more
doaj   +2 more sources

Clinical course and management challenges in Lafora disease: a narrative analysis in an Apulian cohort [PDF]

Orphanet Journal of Rare Diseases
Background Lafora disease (LD) is an ultra-rare, autosomal recessive neurodegenerative disorder characterized by the accumulation of Lafora bodies in the brain, leading to drug-resistant epilepsy, myoclonus, progressive dementia, and cerebellar ...
Giuseppe d’Orsi, Maria Teresa Di Claudio, Antonella Liantonio, Paola Imbrici, Cosimo Damiano Altomare, Orazio Palumbo, Pietro Palumbo, Mario Benvenuto, Nicola Gambacorta, Graziano Lolli, DEFEAT-LD study group, Massimo Carella   +11 more
doaj   +2 more sources

When gene replacement becomes a double-edged sword: Guardrails for precision neurotherapeutics in Lafora disease [PDF]

Neurotherapeutics
Antonella Riva, Pasquale Striano
doaj   +2 more sources

Ontogeny of Lafora bodies and neurocytoskeleton changes in Laforin-deficient mice [PDF]

Experimental Neurology, 2012
Maria Rosa Avila-Costa, Patricia Guevara, Jorge Guevara   +2 more
exaly   +2 more sources

Canine Lafora Disease: An Unstable Repeat Expansion Disorder

Life, 2021
Canine Lafora disease is a recessively inherited, rapidly progressing neurodegenerative disease caused by the accumulation of abnormally constructed insoluble glycogen Lafora bodies in the brain and other tissues due to the loss of NHL repeat containing ...
Thilo von Klopmann, Saija Ahonen, Irene Espadas-Santiuste, Kaspar Matiasek, Daniel Sanchez-Masian, Stefan Rupp, Helene Vandenberghe, Jeremy Rose, Travis Wang, Peixiang Wang, Berge Arakel Minassian, Clare Rusbridge   +11 more
doaj   +1 more source