Results 51 to 60 of about 583 (101)

Retinal Phenotyping of a Murine Model of Lafora Disease. [PDF]

Genes (Basel), 2023
Vincent A, Ahmed K, Hussein R, Berberovic Z, Tumber A, Zhao X, Minassian BA.   +6 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

An astrocytic cellular model of Lafora disease to study polyglucosan accumulation and inflammation. [PDF]

Dis Model Mech
Moreno-Estellés M, Campos-Rodríguez A, Viana R, Baños-Carrión L, Albuixech M, García-Gimeno MA, Gentry MS, Sanz P.   +7 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

Polypharmacy's paradox: accelerated decline in a rare case of Lafora body disease. [PDF]

Postep Psychiatr Neurol
Hussain T, Gupta K, Tiwari A, Mishra PS.
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

The 9th annual Lafora science symposium: a rare epilepsy community makes progress towards clinical readiness. [PDF]

Epilepsy Behav
Williams MI, Donohue KJ, Sanz P, Messahel S, Serratosa JM, Duran J, Michelucci R, Muccioli L, Delgado-Escueta A, Nguyen VV, Minassian BA, Gentry MS.   +11 more
europepmc   +1 more source

Ocular phenotype and electroretinogram abnormalities in Lafora disease and correlation with disease stage. [PDF]

J Neurol, 2022
Orsini A, Ferrari D, Riva A, Santangelo A, Macrì A, Freri E, Canafoglia L, D'Aniello A, Di Gennaro G, Massimetti G, Minetti C, Zara F, Michelucci R, Tumber A, Vincent A, Minassian BA, Striano P.   +16 more
europepmc   +1 more source

Integrative rare disease biomedical profile based network supporting drug repurposing or repositioning, a case study of glioblastoma. [PDF]

Orphanet J Rare Dis, 2023
McGowan E, Sanjak J, Mathé EA, Zhu Q.
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