Results 41 to 50 of about 493 (92)

Novel GBE1 mutation in a Japanese family with adult polyglucosan body disease. [PDF]

Neurol Genet, 2017
Harigaya Y, Matsukawa T, Fujita Y, Mizushima K, Ishiura H, Mitsui J, Morishita S, Shoji M, Ikeda Y, Tsuji S.   +9 more
europepmc   +1 more source

A novel image-based high-throughput screening assay discovers therapeutic candidates for adult polyglucosan body disease. [PDF]

Biochem J, 2017
Solmesky LJ, Khazanov N, Senderowitz H, Wang P, Minassian BA, Ferreira IM, Yue WW, Lossos A, Weil M, Kakhlon O.   +9 more
europepmc   +1 more source

Neuro-Ophthalmic Manifestations of Adult Polyglucosan Body Disease. [PDF]

J Neuroophthalmol
Dugue AG, Abreu NJ, Pillai C, Galetta SL, Grossman SN.   +4 more
europepmc   +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

Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings. [PDF]

Ann Neurol, 2012
Mochel F, Schiffmann R, Steenweg ME, Akman HO, Wallace M, Sedel F, Laforêt P, Levy R, Powers JM, Demeret S, Maisonobe T, Froissart R, Da Nobrega BB, Fogel BL, Natowicz MR, Lubetzki C, Durr A, Brice A, Rosenmann H, Barash V, Kakhlon O, Gomori JM, van der Knaap MS, Lossos A.   +23 more
europepmc   +1 more source

A case of adult polyglucosan body disease. [PDF]

Yonsei Med J, 2007
Lee SY, Park JH, Kim SH, Kim TS, Kim WJ, Choi YC.   +5 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