Results 121 to 130 of about 4,843,940 (181)

Diagnosis of Lafora Disease by Skin Biopsy [PDF]

Journal of Clinical and Diagnostic Research, 2017
Prasath Sathiah, Debasis Gochhait, Priyadarshini Dehuri, Hema Subramanian   +3 more
doaj   +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

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

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

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

The Kurume Medical Journal, 1976
openaire   +2 more sources

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

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

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

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