Results 91 to 100 of about 9,468,531 (154)

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

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

Identification of a novel RBCK1 splice site donor variant in Basset Hounds with glycogen storage disease myopathy. [PDF]

Mol Genet Metab
Blake JM, Miller AD, Marr JL, Ekenstedt KJ.   +3 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

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

Perisynaptic Astrocytic Processes as Communication Hubs and Early Sites of Dysfunction. [PDF]

Neuroscientist
Puletti F, Tugulu I, Hong S.
europepmc   +1 more source