Results 21 to 30 of about 1,886 (182)

Amylopectinosis of the fatal epilepsy Lafora disease resists autophagic glycogen catabolism [PDF]

EMBO Molecular Medicine
In this Correspondence, B. Minassian and colleagues report that GHF201, an autophagy activator shown to diminish abnormal glycogen aggregates in a mouse model of Adult Polyglucosan Body Disease, fails to reduce such accumulations in a mouse model of ...
Jun Wu, Or Kakhlon, Miguel Weil, Alexander Lossos, Berge A Minassian   +4 more
doaj   +2 more sources

[Lafora disease (author's transl)]

Revue d'electroencephalographie et de neurophysiologie clinique, 1978
On the basis of 21 personal observations as well as those (82) from the litterature, it is concluded that the progressive myoclonic epilepsy with Lafora bodies (P.M.E.) constitutes a disease on its own.
C. Dravet, J. Roger, DALLA BERNARDINA, Bernardo, I. Picornell Darder, M. Bureau Paillas, C. A. Tassinari, M. C. Mouren   +6 more
core   +4 more sources

Lafora Disease in a Teenage Girl with Epilepsy

GAIMS Journal of Medical Sciences
Lafora disease is rare group of progressive myoclonic epilepsies, worldwide. It is more common in children and adolescents and is genetic, glycogen metabolism disorder. It has Autosomal recessive (AR) inheritance.
Bhushan Warpe, Shweta Joshi, Vishva Sureja   +2 more
doaj   +2 more sources

Pathogenesis of Lafora disease

, 2021
Lafora disease (LD, OMIM #254780) is a rare, recessively inherited neurodegenerative disease with adolescent onset, resulting in progressive myoclonus epilepsy which is fatal usually within ten years of symptom onset.
Nitschke, Felix, Nitschke, Silvia, Minassian, Berge A., Sullivan, Mitchell A., Steup, Martin (Prof. Dr.)   +4 more
core   +3 more sources

Genetics of Lafora progressive myoclonic epilepsy: current perspectives

The Application of Clinical Genetics, 2016
Miljana Kecmanović,1 Milica Keckarević-Marković,1 Dušan Keckarević,1 Galina Stevanović,2 Nebojša Jović,2 Stanka Romac,1,† 1Faculty of Biology, Center for Human Molecular Genetics, 2Clinic of Neurology and Psychiatry for Children and ...
Kecmanović M, Keckarević-Marković M, Keckarević D, Stevanović G, Jović N, Romac S   +5 more
doaj   +1 more source

Early Treatment with Metformin Improves Neurological Outcomes in Lafora Disease. [PDF]

Neurotherapeutics, 2023
Lafora disease is a fatal form of progressive myoclonic epilepsy caused by mutations in the EPM2A or NHLRC1/EPM2B genes that usually appears during adolescence.
Burgos DF, Machío-Castello M, Iglesias-Cabeza N, Giráldez BG, González-Fernández J, Sánchez-Martín G, Sánchez MP, Serratosa JM.   +7 more
europepmc   +2 more sources

An astrocytic cellular model of Lafora disease to study polyglucosan accumulation and inflammation [PDF]

Disease Models & Mechanisms
Mireia Moreno-Estellés, Angela Campos-Rodríguez, Rosa Viana, Laura Baños-Carrión, Marta Albuixech, Maria A. García-Gimeno, Matthew S. Gentry, Pascual Sanz   +7 more
doaj   +2 more sources

Gys1 antisense therapy rescues neuropathological bases of murine Lafora disease. [PDF]

Brain, 2021
Ahonen S, Nitschke S, Grossman TR, Kordasiewicz H, Wang P, Zhao X, Guisso DR, Kasiri S, Nitschke F, Minassian BA.   +9 more
europepmc   +2 more sources

Deciphering the Polyglucosan Accumulation Present in Lafora Disease Using an Astrocytic Cellular Model. [PDF]

Int J Mol Sci, 2023
Lafora disease (LD) is a neurological disorder characterized by progressive myoclonus epilepsy. The hallmark of the disease is the presence of insoluble forms of glycogen (polyglucosan bodies, or PGBs) in the brain.
Moreno-Estellés M, Campos-Rodríguez Á, Rubio-Villena C, Kumarasinghe L, Garcia-Gimeno MA, Sanz P.   +5 more
europepmc   +2 more sources

Gene therapy for Lafora disease in the Epm2a^-/- mouse model. [PDF]

Mol Ther
Lafora disease is a rare and fatal form of progressive myoclonic epilepsy typically occurring early in adolescence. The disease results from mutations in the EPM2A gene, encoding laforin, or the EPM2B gene, encoding malin. Laforin and malin work together
Zafra-Puerta L, Iglesias-Cabeza N, Burgos DF, Sciaccaluga M, González-Fernández J, Bellingacci L, Canonichesi J, Sánchez-Martín G, Costa C, Sánchez MP, Serratosa JM.   +10 more
europepmc   +2 more sources