Results 71 to 80 of about 944 (117)

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

SINEUP-Mediated Overexpression of Endogenous α-Amylase as a Therapeutic Approach in Lafora Disease. [PDF]

Genes (Basel)
Allegri L, Baldan F, Mio C, Imperatore V, Costa C, Prontera P, Bisulli F, Muccioli L, Damante G.   +8 more
europepmc   +1 more source

Trehalose Treatment in Zebrafish Model of Lafora Disease. [PDF]

Int J Mol Sci, 2022
Della Vecchia S, Ogi A, Licitra R, Abramo F, Nardi G, Mero S, Landi S, Battini R, Sicca F, Ratto GM, Santorelli FM, Marchese M.   +11 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

Gene therapy for Lafora disease in the Epm2a^-/- mouse model. [PDF]

Mol Ther
Zafra-Puerta L, Iglesias-Cabeza N, Burgos DF, Sciaccaluga M, González-Fernández J, Bellingacci L, Canonichesi J, Sánchez-Martín G, Costa C, Sánchez MP, Serratosa JM.   +10 more
europepmc   +1 more source

Focused ultrasound widely broadens AAV-delivered Cas9 distribution and activity. [PDF]

Gene Ther
Gumusgoz E, Kasiri S, Youssef I, Verma M, Chopra R, Villarreal Acha D, Wu J, Marriam U, Alao E, Chen X, Guisso DR, Gray SJ, Shah BR, Minassian BA.   +13 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

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

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

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