Results 21 to 30 of about 845 (152)

Lafora bodies in skeletal muscle are fiber type specific. [PDF]

Neurology, 2011
Glycogen is the largest soluble cytosolic macromolecule, containing up to 55,000 glucoses per molecule. It is formed by glycogen synthase (GS) and branching enzyme (BE), which acting coordinately lead to branching after every sixth glucose and ultimately to a spherical shape that allows solubility.
Turnbull J, Girard JM, Pencea N, Zhao X, Graham TE, Wang P, Ackerley CA, Minassian BA.   +7 more
europepmc   +4 more sources

The possibility of using skin biopsy in the diagnosis of Lafora disease

Бюллетень сибирской медицины, 2020
Lafora disease is a hereditary, autosomal recessive progressive myoclonus epilepsy caused by mutations in the EPM2A (laforin) and EPM2B (malin) genes, with no substantial genotype-phenotype differences between the two.
L. S. Kraeva, S. V. Vtorushin, A. V. Kuzmina, D. V. Kozyritskaya   +3 more
doaj   +1 more source

Epm2aR240X knock-in mice present earlier cognitive decline and more epileptic activity than Epm2a−/− mice

Neurobiology of Disease, 2023
Lafora disease is a rare recessive form of progressive myoclonic epilepsy, usually diagnosed during adolescence. Patients present with myoclonus, neurological deterioration, and generalized tonic-clonic, myoclonic, or absence seizures.
Daniel F. Burgos, Miriam Sciaccaluga, Carolyn A. Worby, Luis Zafra-Puerta, Nerea Iglesias-Cabeza, Gema Sánchez-Martín, Paolo Prontera, Cinzia Costa, José M. Serratosa, Marina P. Sánchez   +9 more
doaj   +1 more source

Early-onset Lafora body disease [PDF]

Brain, 2012
The most common progressive myoclonus epilepsies are the late infantile and late infantile-variant neuronal ceroid lipofuscinoses (onset before the age of 6 years), Unverricht-Lundborg disease (onset after the age of 6 years) and Lafora disease. Lafora disease is a distinct disorder with uniform course: onset in teenage years, followed by progressively
Julie, Turnbull, Jean-Marie, Girard, Hannes, Lohi, Elayne M, Chan, Peixiang, Wang, Erica, Tiberia, Salah, Omer, Mushtaq, Ahmed, Christopher, Bennett, Aruna, Chakrabarty, Atul, Tyagi, Yan, Liu, Nela, Pencea, XiaoChu, Zhao, Stephen W, Scherer, Cameron A, Ackerley, Berge A, Minassian   +16 more
openaire   +2 more sources

AASLD practice guidance on drug, herbal, and dietary supplement–induced liver injury

, 2022
Hepatology, EarlyView.
Robert J. Fontana, Iris Liou, Adrian Reuben, Ayako Suzuki, M. Isabel Fiel, William Lee, Victor Navarro   +6 more
wiley   +1 more source

Polyglucosan body structure in Lafora disease

Carbohydrate Polymers, 2020
Abnormal carbohydrate structures known as polyglucosan bodies (PGBs) are associated with neurological disorders, glycogen storage diseases (GSDs), and aging. A hallmark of the GSD Lafora disease (LD), a fatal childhood epilepsy caused by recessive mutations in the EPM2A or EPM2B genes, are cytoplasmic PGBs known as Lafora bodies (LBs).
M. Kathryn Brewer, Jean-Luc Putaux, Alberto Rondon, Annette Uittenbogaard, Mitchell A. Sullivan, Matthew S. Gentry   +5 more
openaire   +6 more sources

Lafora Disease and Alpha-Synucleinopathy in Two Adult Free-Ranging Moose (Alces alces) Presenting with Signs of Blindness and Circling

Animals, 2022
Lafora disease is an autosomal recessive glycogen-storage disorder resulting from an accumulation of toxic polyglucosan bodies (PGBs) in the central nervous system, which causes behavioral and neurologic symptoms in humans and other animals. In this case
Madhu Ravi, Atilano Lacson, Margo Pybus, Mark C. Ball   +3 more
doaj   +1 more source

Lafora Disease and Congenital Generalized Lipodystrophy: A Case Report

Kaohsiung Journal of Medical Sciences, 2009
We report a patient with congenital generalized lipodystrophy who had suffered from seizures, myoclonus, ataxia and cognitive decline since late childhood.
Chih-Fan Tseng, Che-Sheng Ho, Nan-Chang Chiu, Shuan-Pei Lin, Chi-Yuan Tzen, Yu-Hung Wu   +5 more
doaj   +1 more source

TNF and IL6/Jak2 signaling pathways are the main contributors of the glia-derived neuroinflammation present in Lafora disease, a fatal form of progressive myoclonus epilepsy

Neurobiology of Disease, 2023
Lafora disease (LD; OMIM#254780) is a rare form of progressive myoclonus epilepsy (prevalence
Teresa Rubio, Rosa Viana, Mireia Moreno-Estellés, Ángela Campos-Rodríguez, Pascual Sanz   +4 more
doaj   +1 more source

<i>KCNC1</i>-Related Progressive Myoclonus Epilepsy: A Case Report. [PDF]

Clin Case Rep
ABSTRACT KCNC1‐related progressive myoclonus epilepsy (EPM7) is a rare disorder causing seizures, myoclonus, and ataxia. The first reported Iranian case highlights the role of genetic testing in diagnosis and potential future treatments, including gene therapy and novel pharmacological approaches.
Salari M, Sadeghzadeh S, Etemadifar M.
europepmc   +2 more sources