Results 71 to 80 of about 583 (101)

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

Covalently linked phosphate monoesters on alpha-polyglucans reduce substrate affinity of branching enzymes. [PDF]

Carbohydr Polym
Butler V, Shaaban H, Nasanovsky L, White JKV, Hebb O, Jones L, Whiting M, Mukherjee-Roy N, Montalbano AP, Machado Vides CE, Nitschke F, Tetlow IJ.   +11 more
europepmc   +1 more source

Progressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic Advances. [PDF]

Genes (Basel)
Zimmern V, Minassian B.
europepmc   +1 more source

Neurological glycogen storage diseases and emerging therapeutics. [PDF]

Neurotherapeutics
Colpaert M, Singh PK, Donohue KJ, Pires NT, Fuller DD, Corti M, Byrne BJ, Sun RC, Vander Kooi CW, Gentry MS.   +9 more
europepmc   +1 more source

Clinical course and management challenges in Lafora disease: a narrative analysis in an Apulian cohort. [PDF]

Orphanet J Rare Dis
d'Orsi G, Di Claudio MT, Liantonio A, Imbrici P, Altomare CD, Palumbo O, Palumbo P, Benvenuto M, Gambacorta N, Lolli G, DEFEAT-LD study group, Carella M.   +11 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

<i>KCNC1</i>-Related Progressive Myoclonus Epilepsy: A Case Report. [PDF]

Clin Case Rep
Salari M, Sadeghzadeh S, Etemadifar M.
europepmc   +1 more source

Exploring miRNA-target gene pair detection in disease with coRmiT. [PDF]

Brief Bioinform
Cordoba-Caballero J, Perkins JR, García-Criado F, Gallego D, Navarro-Sánchez A, Moreno-Estellés M, Garcés C, Bonet F, Romá-Mateo C, Toro R, Perez B, Sanz P, Kohl M, Rojano E, Seoane P, Ranea JAG.   +15 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