Results 71 to 80 of about 8,964,539 (118)

Early-life environment, eight and BMI of young adult males in Italy [PDF]

This paper studies the relationship between the two main dimensions of early-life environment, namely disease burden (measured by infant mortality) and economic conditions (measured by income or consumption per capita), and height and body-mass index ...
Franco Peracchi, Emilia Arcaleni
core  

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

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

Splice-modulating antisense oligonucleotides targeting a pathogenic intronic variant in adult polyglucosan body disease correct mis-splicing and restore enzyme activity in patient cells. [PDF]

Nucleic Acids Res
Thomas R, Miyoshi E, Akman HO, Storz SHR, Goffena J, Pytte J, Miller DE, Skourti-Stathaki K, Crooke ST.   +8 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

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

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

Glycogen and Glycosylation: Friends or Foes? [PDF]

Biomolecules
Konada RSR, Osborn J, Mitra S.
europepmc   +1 more source

Editorial: Inborn errors of carbohydrate metabolism volume II. [PDF]

Front Genet
García-Ortíz JE, Doederlein-Schwartz IV, Abreu-González M, Martínez-Duncker I.   +3 more
europepmc   +1 more source