Results 91 to 100 of about 845 (152)

Recent Advances in Visual Dysfunction and Ocular Biomarkers in Neurological Disorders. [PDF]

Eye Brain
Cheng J, Paracha SS, Agrawal S, Wu Z, Sung CH.   +4 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

Discovery and Evaluation of Active Site-Directed, Potent, and Selective Sulfophenyl Acetic Amide-Based Inhibitors for the Laforin Phosphatase. [PDF]

J Med Chem
Lin J, He R, Qu Z, Dong J, Krabill AD, Wu L, Bai Y, Conroy LR, Bruntz RC, Miao Y, Jassim BA, Babalola B, Nguele Meke FGB, Sun R, Gentry MS, Zhang ZY.   +15 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

Navigating the diagnostic challenges of myoclonus in neurodegenerative disorders: video-EEG/polygraphy, clinical vignettes, and narrative analysis. [PDF]

Front Neurol
d'Orsi G, Di Claudio MT, Soccio AA, Palumbo V, Ferro CP, Costantino U, Latino R, Fogli D.   +7 more
europepmc   +1 more source

Glycophagy: molecular mechanisms, regulatory signals, and disease associations. [PDF]

Autophagy Rep
Chen L, Jiang J, Liu M, Chen L.
europepmc   +1 more source

Clinicopathologic Dissociation: Robust Lafora Body Accumulation in Malin KO Mice Without Observable Changes in Home-Cage Behavior. [PDF]

J Comp Neurol
Krishnan V, Wu J, Mazumder AG, Kamen JL, Schirmer C, Adhyapak N, Bass JS, Lee SC, Maheshwari A, Molinaro G, Gibson JR, Huber KM, Minassian BA.   +12 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

Neuromuscular junction dysfunction in Lafora disease. [PDF]

Dis Model Mech
Shukla M, Chugh D, Ganesh S.
europepmc   +1 more source

Clinical Signs in 166 Beagles with Different Genotypes of Lafora. [PDF]

Genes (Basel)
Flegel T, Dirauf C, Kehl A, Dietzel J, Holtdirk A, Langbein-Detsch I, Müller E.   +6 more
europepmc   +1 more source