Results 121 to 130 of about 884 (171)

Natural history study of hepatic glycogen storage disease type IV and comparison to Gbe1ys/ys model. [PDF]

JCI Insight
Koch RL, Kiely BT, Choi SJ, Jeck WR, Flores LS, Sood V, Alam S, Porta G, LaVecchio K, Soler-Alfonso C, Kishnani PS.   +10 more
europepmc   +1 more source

Mapping Disorders with Neurological Features Through Mitochondrial Impairment Pathways: Insights from Genetic Evidence. [PDF]

Curr Issues Mol Biol
Makridou A, Sintou E, Chatzianagnosti S, Dermitzakis I, Gargani S, Manthou ME, Theotokis P.   +6 more
europepmc   +1 more source

ThePgb1locus controls glycogen aggregation in astrocytes of the aged hippocampus without impacting cognitive function

, 2023
Gómez-Pascual A, Glikman DM, Ng HX, Tomkins JE, Lu L, Xu Y, Ashbrook DG, Kaczorowski C, Kempermann G, Killmar J, Mozhui K, Ohlenschläger O, Aebersold R, Ingram D, Williams EG, Williams RW, Overall RW, Jucker M, de Bakker DEM.   +18 more
europepmc   +1 more source

Brainstem Chipmunk Sign: A Diagnostic Imaging Clue across All Subtypes of Alexander Disease. [PDF]

AJNR Am J Neuroradiol
Armangue T, Whitehead MT, Tonduti D, Farina L, Tavasoli AR, Vossough A, Bennett ML, Vaia Y, Bernard G, Salsano E, Mercimek-Andrews S, Waldman A, Vanderver A.   +12 more
europepmc   +1 more source

Very late-onset Krabbe disease with concomitant dementia: case description and a critical review of the literature. [PDF]

Neurol Sci
Rossi S, Tessa A, Vita MG, Russo R, Parisi D, Piemonte F, Dalla Zanna G, Santorelli FM, Silvestri G.   +8 more
europepmc   +1 more source

Deciphering Key Regulatory Roles of Linear Ubiquitination in Cell Fate Determination and Disease. [PDF]

Research (Wash D C)
Huang J, Tao L, Liao J.
europepmc   +1 more source

The biochemical dynamics of the glycogen phosphatase laforin directly impact brain metabolism. [PDF]

J Biol Chem
Brewer MK, Donohue KJ, Singh PK, Raththagala M, Simmons ZR, Wayne JL, Li S, Viana R, Segvich DM, Contreras CJ, Cantrell AR, Sanz P, Sun RC, Vander Kooi CW, Roach PJ, DePaoli-Roach A, Gentry MS.   +16 more
europepmc   +1 more source

Capillary basal lamina in human brain and spinal cord has fibrillar collagen type I and type III: Ignorance may not be bliss. [PDF]

Free Neuropathol
Lin WL, Dickson DW.
europepmc   +1 more source

Mitochondrial Dysfunction in Glycogen Storage Disorders (GSDs). [PDF]

Biomolecules
Mishra K, Kakhlon O.
europepmc   +1 more source