Results 81 to 90 of about 845 (152)

The biochemical dynamics of the glycogen phosphatase laforin directly impact brain metabolism. [PDF]

J Biol Chem
Brewer MK, Donohue KJ, Singh PK, Raththagala M, Simmons ZR, Wayne JL, Li S, Viana R, Segvich DM, Contreras CJ, Cantrell AR, Sanz P, Sun RC, Vander Kooi CW, Roach PJ, DePaoli-Roach A, Gentry MS.   +16 more
europepmc   +1 more source

Progressive myoclonus epilepsy without Lafora bodies. [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 1969
W B, Matthews, D A, Howell, D L, Stevens
openaire   +2 more sources

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

New therapeutic strategies for Lafora disease: Evaluation of the safety, efficacy, pharmacokinetics and metabolomic profile of intravenous VAL-1221 treatment. [PDF]

Neurotherapeutics
Muccioli L, Tappatà M, Farolfi A, Singh PK, Pasini E, Mazzone S, Esposito E, Motta L, D'Agati OM, Angeloni S, Caravelli A, Cancellerini C, Minardi R, Pizzi E, Carelli V, Tonon C, Fiori J, Gentry MS, Vignatelli L, Michelucci R, Bisulli F, DEFEAT-LD study group.   +21 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

Neurofilament Light Chain as a Biomarker of Disease Progression in Lafora Disease. [PDF]

Neurol Genet
Muccioli L, Ganceviciute B, Becker F, Minardi R, Tappatà M, Bachhuber F, Alkhatib M, Cirak S, Weishaupt J, Verma M, Tumani H, Wagner J, Messahel S, Nitschke F, Minassian BA, Bisulli F, Brenner D.   +16 more
europepmc   +1 more source

Identification of Plasma Growth Factors and Cytokines as Diagnostic Biomarkers for the Lafora Form of Progressive Myoclonus Epilepsy. [PDF]

Int J Mol Sci
Moreno-Estellés M, Machio M, González L, Albuixech M, Abraira L, Quintana M, Toledo M, Sánchez MP, Serratosa JM, Sanz P.   +9 more
europepmc   +1 more source

Glycogenin-1 deficiency: a case report and review of the literature. [PDF]

Front Genet
Molitierno N, Velardo D, Salvucci G, Abati E, Tumminello G, Ripolone M, Zanotti S, Napoli L, Ciscato P, Sciacco M, Comi GP, Corti S, Ronchi D.   +12 more
europepmc   +1 more source

¹H and ³¹P magnetic resonance spectroscopy reveals potential pathogenic and biomarker metabolite alterations in Lafora disease. [PDF]

Brain Commun
Chan KL, Panatpur A, Messahel S, Dahshi H, Johnson T, Henning A, Ren J, Minassian BA.   +7 more
europepmc   +1 more source