Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes [PDF]
, 2019 Objective: To expand the clinical spectrum of lysyl-tRNA synthetase (KARS) gene–related diseases, which so far includes Charcot-Marie-Tooth disease, congenital visual impairment and microcephaly, and nonsyndromic hearing impairment.
Antonellis, Anthony +29 more
core +1 more source
N-Acetylaspartate and Choline Metabolites in Cortical and Subcortical Regions in Clinical High Risk Relative to Healthy Control Subjects: An Exploratory 7T MRSI Study. [PDF]
Int J Mol Sci, 2023 Mayeli A +8 more
europepmc +1 more source
Meta-analytic evidence of elevated choline, reduced N-acetylaspartate, and normal creatine in schizophrenia and their moderation by measurement quality, echo time, and medication status. [PDF]
Neuroimage Clin, 2023 Yang YS, Smucny J, Zhang H, Maddock RJ.
europepmc +1 more source
Glutamatergic and N-Acetylaspartate Metabolites in Bipolar Disorder: A Systematic Review and Meta-Analysis of Proton Magnetic Resonance Spectroscopy Studies. [PDF]
Int J Mol Sci, 2022 Chabert J +8 more
europepmc +1 more source
The Involvement of the GH/IGF-I Axis in Cognitive Functions of Adult Patients and Healthy Subjects [PDF]
, 2012 Deijen, J.B., Drent, M.L., Driel, M.I.
core +4 more sources
Circulating N-Acetylaspartate does not track brain NAA concentrations, cognitive function or features of small vessel disease in humans. [PDF]
Sci Rep, 2022 Rebelos E +15 more
europepmc +1 more source
iRADIOLOGYBackground Magnetic resonance spectroscopy (MRS) represents a significant advancement in the noninvasive assessment of brain metabolism. MRS can provide valuable metabolic information and facilitate more accurate diagnoses of intrauterine fetal brain ...
Dejuan Shan +5 more
doaj +1 more source
Cortical N-acetylaspartate concentrations are impacted in chronic stroke but do not relate to motor impairment: A magnetic resonance spectroscopy study. [PDF]
Hum Brain Mapp, 2021 Ferris JK +8 more
europepmc +1 more source