Results 101 to 110 of about 62,774 (200)

Adult polyglucosan body disease

, 2021
openaire   +1 more source

Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS Cohort [PDF]

, 2016
Andrea Sprecher, Florian Battke, Johannes Prudlo, Ludger Schöls, Marita Munz, Matthis Synofzik, Saskia Biskup, Stefanie Krüger, Thomas Gasser, Torsten Grehl   +9 more
core   +1 more source

Adult polyglucosan body disease with GBE1 haploinsufficiency and concomitant frontotemporal lobar degeneration. [PDF]

Neuropathol Appl Neurobiol, 2014
Bit-Ivan EN, Lee KH, Gitelman D, Weintraub S, Mesulam M, Rademakers R, Isaacs AM, Hatanpaa KJ, White CL, Mao Q, Akman O, DiMauro S, Bigio EH.   +12 more
europepmc   +1 more source

Abnormal glycogen in astrocytes is sufficient to cause adult polyglucosan body disease. [PDF]

Gene, 2013
Dainese L, Monin ML, Demeret S, Brochier G, Froissart R, Spraul A, Schiffmann R, Seilhean D, Mochel F.   +8 more
europepmc   +1 more source

Polyglucosan body disease in an aged chimpanzee (Pan troglodytes). [PDF]

Neuropathology, 2023
Gumber S, Connor-Stroud F, Howard D, Zhang X, Bradley BJ, Sherwood CC, Walker LC.   +6 more
europepmc   +1 more source

Coexisting adult polyglucosan body disease with frontotemporal lobar degeneration with transactivation response DNA-binding protein-43 (TDP-43)-positive neuronal inclusions. [PDF]

Neurocase, 2013
Farmer JG, Crain BJ, Harris BT, Turner RS.   +3 more
europepmc   +1 more source

Lafora Disease: A Case Report and Evolving Treatment Advancements. [PDF]

Brain Sci, 2023
Ferrari Aggradi CR, Rimoldi M, Romagnoli G, Velardo D, Meneri M, Iacobucci D, Ripolone M, Napoli L, Ciscato P, Moggio M, Comi GP, Ronchi D, Corti S, Abati E.   +13 more
europepmc   +1 more source

Abundant copathologies of polyglucosan bodies, frontotemporal lobar degeneration with TDP-43 inclusions and ageing-related tau astrogliopathy in a family with a GBE1 mutation. [PDF]

Neuropathol Appl Neurobiol, 2023
Uemura MT, Suh ER, Robinson JL, Brunden KR, Grossman M, Irwin DJ, Lee VM, Trojanowski JQ, Lee EB, Van Deerlin VM.   +9 more
europepmc   +1 more source

Genetic diagnosis of Jordanian patients with glycogen storage diseases. [PDF]

Orphanet J Rare Dis
Shboul M, El-Khateeb M, Fathallah R.
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