Results 21 to 30 of about 4,843,940 (181)

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 Presenting with Ataxia and DM1: A Case Study

Acta Neurologica Taiwanica
Here we presented a rare case of Lafora disease with neuropathy, ataxia and progression of symptoms into type one DM, GTCS and myoclonus during years.
Ramin Khanalizadeh, Kosar Karimi
doaj   +2 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

Lafora Disease

Abstract Alois Alzheimer’s Spanish trainee Gonzalo Lafora described a neurodegenerative disease, now known as Lafora disease, resembling his mentor’s (Alzheimer’s disease) but with early (teenage) onset, a rapid ten-year course, and a severe, incessant, and intractable epilepsy.
Ibrahim F, Murr NI.
europepmc   +2 more sources

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

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

Glial Contributions to Lafora Disease: A Systematic Review. [PDF]

Biomedicines, 2022
Della Vecchia S, Marchese M, Santorelli FM.   +2 more
europepmc   +2 more sources

Trehalose Treatment in Zebrafish Model of Lafora Disease. [PDF]

Int J Mol Sci, 2022
Della Vecchia S, Ogi A, Licitra R, Abramo F, Nardi G, Mero S, Landi S, Battini R, Sicca F, Ratto GM, Santorelli FM, Marchese M.   +11 more
europepmc   +2 more sources

Association of CSF and PET markers of neurodegeneration with electroclinical progression in Lafora disease. [PDF]

Front Neurol, 2023
d'Orsi G, Farolfi A, Muccioli L, Palumbo O, Palumbo P, Modoni S, Allegri V, Garibotto V, Di Claudio MT, Di Muro E, Benvenuto M, Bisulli F, Carella M.   +12 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