Results 121 to 130 of about 1,886 (182)

A Novel Mutation in Lafora Disease and Update on Pathophysiology and Future Treatments. [PDF]

Child Neurol Open, 2022
Nordli DR, Rao CK, Delgado-Escueta AV, Galan F.   +3 more
europepmc   +1 more source

ON THE DIFFERENCE OF LAFORA'S DISEASE FROM LAFORA-BODY DISEASE

The Kurume Medical Journal, 1976
openaire   +2 more sources

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

BMC Neurol
Naderian R, Vafaeian F, Hoseini SM, Sanami S.   +3 more
europepmc   +1 more source

Empagliflozin Repurposing for Lafora Disease: A Pilot Clinical Trial and Preclinical Investigation of Novel Therapeutic Targets. [PDF]

Methods Protoc
d'Orsi G, Liantonio A, Imbrici P, Gambacorta N, Dinoi G, Altomare CD, DEFEAT-LD Study Group, Carella M.   +7 more
europepmc   +1 more source

Identification of a pathogenic NHLRC1 variant in a consanguineous Pakistani family affected with severe and rapidly progressive Lafora disease. [PDF]

Acta Epileptol
Aslam Z, Zubaida B, Khan R, Badshah M, Naeem M.   +4 more
europepmc   +1 more source

VAL-1221 for the treatment of patients with Lafora disease: study protocol for a single-arm, open-label clinical trial. [PDF]

BMJ Open
Muccioli L, Vignatelli L, Tappatà M, Mazzone S, Zenesini C, Armstrong D, DEFEAT-LD study group, Michelucci R, Bisulli F.   +8 more
europepmc   +1 more source

Impaired malin expression and interaction with partner proteins in Lafora disease. [PDF]

J Biol Chem
Skurat AV, Segvich DM, Contreras CJ, Hu YC, Hurley TD, DePaoli-Roach AA, Roach PJ.   +6 more
europepmc   +1 more source

Effect of intracerebroventricular administration of alglucosidase alfa in two mouse models of Lafora disease: Relevance for clinical practice. [PDF]

Epilepsy Res
Zafra-Puerta L, Colpaert M, Iglesias-Cabeza N, Burgos DF, Sánchez-Martín G, Gentry MS, Sánchez MP, Serratosa JM.   +7 more
europepmc   +1 more source

Dapagliflozin ameliorates Lafora disease phenotype in a zebrafish model.

Biomed Pharmacother
Della Vecchia S, Imbrici P, Liantonio A, Naef V, Damiani D, Licitra R, Bernardi S, Marchese M, Santorelli FM.   +8 more
europepmc   +1 more source

Correction for Article Title "The laforin-malin complex, involved in Lafora disease, promotes the incorporation of K63-linked ubiquitin chains into AMP-activated protein kinase beta subunits". [PDF]

Mol Biol Cell
europepmc   +1 more source