Results 101 to 110 of about 884 (171)

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

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

Mouse brain contains age-dependent extraparenchymal granular structures and astrocytes, both reactive to natural IgM antibodies, linked to the fissura magna [PDF]

Mouse brains can contain specific polyglucosan aggregates known as Periodic Acid-Schiff (PAS)-granules. Generated in astrocytes, these granules increase with age and exhibit neo-epitopes of carbohydrate nature that are recognized by natural IgM ...
Alsina Planelles, Raquel, Pelegrí i Gabaldà, Carme, Riba Baqués, Marta, Romera, Clara, Sartorio, Marina, Valle i Macià, Jaume del, Vilaplana i Hortensi, Jordi   +6 more
core  

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

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

Colocalization and functional analyses identify <i>GBE1</i> as a gene linking muscle strength and cardiometabolic fitness. [PDF]

Am J Physiol Endocrinol Metab
Schnurr TM, Johnson ML, Jin C, Sørensen KV, Kim L, Jahng JW, Ramste A, Bielczyk-Maczynska E, Gloudemans MJ, Saliba-Gustafsson P, Vinton E, Jurney PL, Carcamo-Orive I, Ashley EA, Hansen T, Knowles JW, Palmisano BT.   +16 more
europepmc   +1 more source

A 61-Year-Old Man With Weakness and Gait Dysfunction. [PDF]

JAMA Neurol
Jones FJS, Edmundson C, Orthmann-Murphy J.   +2 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