Results 51 to 60 of about 884 (171)

Dogs with cognitive dysfunction syndrome: a natural model of Alzheimer's Disease [PDF]

, 2014
In the search for appropriate models for Alzheimer's disease (AD) involving animals other than rodents, several laboratories are working with animals that naturally develop cognitive dysfunction. Among the animals tested, dogs are quite unique in helping
Bosch, Maria Neus, Gimeno-Bayon, Javier, Mahy Gehenne, Josette Nicole, Pugliese, Marco, Rodríguez Allué, Manuel José   +4 more
core   +2 more sources

Preclinical research in glycogen storage diseases : a comprehensive review of current animal models [PDF]

, 2020
Altres ajuts: The present manuscript was funded by grants received from the Fondo de Investigaciones Sanitarias (FIS, grant; Instituto de Salud Carlos III) and cofunded by 'Fondos FEDER'. M.V.-S.
Almodóvar Payá, Aitana, Antoni Andreu, Arenas, Joaquin, de Luna Salva, Noemí, Krag, Thomas, Lucia, Alejandro, Martín, Miguel Angel, Nogales, Gisela, Pinós Figueras, Tomàs, Real-Martínez, Alberto, Universitat Autònoma de Barcelona, Villarreal-Salazar, Mónica, Vissing,John   +12 more
core   +1 more source

Polyglucosan bodies in medullary catecholaminergic neurones in SUDEP [PDF]

, 2021
Polyglucosan bodies have been reported in the context of hypoxic-ischaemic perinatal brain injury, mainly in the pallidum but with rare reports in brainstem neurones.
Patodia, S, Somani, A, Thom, M
core  

The challenge of ultra‐rarity: Dual diagnosis of Lafora disease and developmental encephalopathies linked to TRIO and SHANK3 pathogenic variants

Epilepsia Open, Volume 10, Issue 6, Page 1990-1996, December 2025.
Abstract We report two cases of dual genetic diagnoses involving Lafora disease (LD) and co‐occurring neurodevelopmental disorders caused by pathogenic variants in TRIO and SHANK3, respectively. LD is an ultra‐rare, autosomal recessive, severe form of progressive myoclonus epilepsy affecting previously healthy children or adolescents. In both patients,
Lorenzo Muccioli, Francesca Bisulli, Raffaella Minardi, Maria Lucia Valentino, Micaela De Simone, Rodrigo Almeida Paroni, Edward Cesnik, Elisa Fallica, Luigi Bonan, Eleonora Pizzi, DEFEAT‐LD Study Group, Cosimo Altomare, Massimo Carella, Cinzia Costa, Giuseppe Damante, Lidia Di Vito, Giuseppe d’Orsi, Nicola Gambacorta, Paola Imbrici, Valentina Imperatore, Antonella Liantonio, Laura Licchetta, Raffaele Lodi, Paola Mantuano, Orazio Palumbo, Elena Pasini, Paolo Prontera, Luca Vignatelli, Gaetano Cantalupo, Laura Licchetta   +29 more
wiley   +1 more source

Lafora Disease Masquerading as Hepatic Dysfunction [PDF]

, 2018
Lafora disease is fatal intractable progressive myoclonic epilepsy. It is frequently characterized by epileptic seizures, difficulty walking, muscle spasms, and dementia in late childhood or adolescence.
Abdullah, Hafez Mohammad A., Ali, Nouman Safdar, Ilyas, Ghulam, Inayat, Faisal, Khan, Zarak H., Lodhi, Hanan T., Ullah, Waqas   +6 more
core   +1 more source

The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)

American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
ABSTRACT Glycogen storage disorders are a group of genetic disorders affecting glucose homeostasis in the body. Muscular glycogen stores are essential for liberating glucose for energy supply during bursts of activity and sustained muscle work. Muscle glycogen storage disease 0 (GSD0B) is associated with biallelic variants in GYS1 causing muscular ...
Sarah Donoghue, Smitha Kumble, Pontus Wasling, Lars Alberg, Pia Linton‐Dahlöf, Yilmaz Yildiz, İlker Ertuğrul, Terry Derks, Dwight Koeberl, Emmeline Lagrange, Sabrina Vergnaud, Lidia Pezzani, Maria Iascone, Zornitza Stark, Adam M. Bournazos, Sandra T. Cooper, Gittan Kollberg   +16 more
wiley   +1 more source

Malin restoration as proof of concept for gene therapy for Lafora disease [PDF]

, 2022
Lafora disease is a fatal neurodegenerative childhood dementia caused by loss-of-function mutations in either the laforin or malin gene. The hallmark of the disease is the accumulation of abnormal glycogen aggregates known as Lafora bodies (LBs) in the ...
Duran Castells, Jordi, Guinovart, Joan, Varea, Olga   +2 more
core   +1 more source

AAV-Mediated Artificial miRNA Reduces Pathogenic Polyglucosan Bodies and Neuroinflammation in Adult Polyglucosan Body and Lafora Disease Mouse Models

Neurotherapeutics, 2022
Adult polyglucosan body disease (APBD) and Lafora disease (LD) are autosomal recessive glycogen storage neurological disorders. APBD is caused by mutations in the glycogen branching enzyme (GBE1) gene and is characterized by progressive upper and lower motor neuron dysfunction and premature death.
Gumusgoz, Emrah, Kasiri, Sahba, Guisso, Dikran R., Wu, Jun, Dear, Matthew, Verhalen, Brandy, Minassian, Berge A.   +6 more
openaire   +2 more sources

Uncovering tau in wasteosomes (corpora amylacea) of Alzheimer's disease patients [PDF]

, 2023
Brain corpora amylacea, recently renamed as wasteosomes, are polyglucosan bodies that appear during aging and some neurodegenerative conditions. They collect waste substances and are part of a brain cleaning mechanism.
Alsina Planelles, Raquel, Molina Porcel, Laura, Pelegrí i Gabaldà, Carme, Riba Baques, Marta, Romera, Clara, Valle i Macià, Jaume del, Vilaplana i Hortensi, Jordi   +6 more
core   +1 more source

Loss of GABAergic cortical neurons underlies the neuropathology of Lafora disease [PDF]

, 2014
BACKGROUND: Lafora disease is an autosomal recessive form of progressive myoclonic epilepsy caused by defects in the EPM2A and EPM2B genes. Primary symptoms of the pathology include seizures, ataxia, myoclonus, and progressive development of severe ...
Agis Balboa, Roberto Carlos, Ortolano, Saida, Spuch Calvar, Carlos, Vieitez González, Irene   +3 more
core   +1 more source