Results 111 to 120 of about 4,843,940 (181)

Electro-clinical features and management of the late stage of Lafora disease. [PDF]

Front Neurol, 2022
d'Orsi G, Di Claudio MT, Palumbo O, Carella M.   +3 more
europepmc   +1 more source

Drug-Resistant Early-Onset Progressive Myoclonic Epilepsy Revealing Lafora Disease: A Case Report. [PDF]

Cureus
Pejanovic-Skobic N, Demirovic S, Boban Raguz A, Bender M, Batinic D, Pravdic N.   +5 more
europepmc   +1 more source

Malin restoration as proof of concept for gene therapy for Lafora disease. [PDF]

Brain Commun, 2022
Varea O, Guinovart JJ, Duran J.
europepmc   +1 more source

A Second Gene for Lafora Disease [PDF]

Epilepsy Currents, 2004
openaire   +2 more sources

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

Adeno-Associated Virus-Based Gene Therapy for Lafora Disease in <i>Epm2b</i>-Deficient Mice. [PDF]

Int J Mol Sci
Zafra-Puerta L, Iglesias-Cabeza N, Sanz P, García-Gimeno MA, Sánchez-Martín G, Sánchez MP, Serratosa JM.   +6 more
europepmc   +1 more source

Lafora disease: Current biology and therapeutic approaches. [PDF]

Rev Neurol (Paris), 2022
Mitra S, Gumusgoz E, Minassian BA.
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

P-Rex1 is a novel substrate of the E3 ubiquitin ligase Malin associated with Lafora disease. [PDF]

Neurobiol Dis, 2023
Kumarasinghe L, Garcia-Gimeno MA, Ramirez J, Mayor U, Zugaza JL, Sanz P.   +5 more
europepmc   +1 more source

Pharmacological Modulation of Glutamatergic and Neuroinflammatory Pathways in a Lafora Disease Mouse Model. [PDF]

Mol Neurobiol, 2022
Mollá B, Heredia M, Campos Á, Sanz P.
europepmc   +1 more source