Results 111 to 120 of about 5,960 (193)

Targeted therapy improves cellular dysfunction, ataxia, and seizure susceptibility in a model of a progressive myoclonus epilepsy. [PDF]

Cell Rep Med
Feng H, Clatot J, Kaneko K, Flores-Mendez M, Wengert ER, Koutcher C, Hoddeson E, Lopez E, Lee D, Arias L, Liang Q, Zhang X, Somarowthu A, Covarrubias M, Gunthorpe MJ, Large CH, Akizu N, Goldberg EM.   +17 more
europepmc   +1 more source

Progressive myoclonus epilepsy in Gaucher Disease due to a new Gly-Gly mutation causing loss of an Exonic Splicing Enhancer. [PDF]

J Neurol, 2019
Tonin R, Catarzi S, Caciotti A, Procopio E, Marini C, Guerrini R, Morrone A.   +6 more
europepmc   +1 more source

Progressive myoclonus epilepsy associated with SACS gene mutations. [PDF]

Neurol Genet, 2016
Nascimento FA, Canafoglia L, Aljaafari D, Muona M, Lehesjoki AE, Berkovic SF, Franceschetti S, Andrade DM.   +7 more
europepmc   +1 more source

Post-modern therapeutic approaches for progressive myoclonus epilepsy. [PDF]

Epileptic Disord, 2016
Minassian BA.
europepmc   +1 more source

Brain inflammation is accompanied by peripheral inflammation in Cstb ^-/- mice, a model for progressive myoclonus epilepsy. [PDF]

J Neuroinflammation, 2016
Okuneva O, Li Z, Körber I, Tegelberg S, Joensuu T, Tian L, Lehesjoki AE.   +6 more
europepmc   +1 more source

Recent advances in clinical neurophysiology of myoclonus. [PDF]

Clin Park Relat Disord
Grippe T, Angeloni B, Bhattacharya A, Chen R.   +3 more
europepmc   +1 more source

The efficacy of the modified Atkins diet in North Sea Progressive Myoclonus Epilepsy: an observational prospective open-label study. [PDF]

Orphanet J Rare Dis, 2017
van Egmond ME, Weijenberg A, van Rijn ME, Elting JW, Gelauff JM, Zutt R, Sival DA, Lambrechts RA, Tijssen MA, Brouwer OF, de Koning TJ.   +10 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

Progressive Myoclonus Epilepsy: The Gene-Empowered Era. [PDF]

Epileptic Disord, 2016
Minassian BA, Striano P, Avanzini G.
europepmc   +1 more source

Case Report: Recurrent pathogenic mutation c.110G>A in <i>DHDDS</i> gene. [PDF]

Front Neurosci
Liu C, Ye Q, Li J, Bu S, Ge C, Wang X, Quan M, Wang L.   +7 more
europepmc   +1 more source