Last Updated: 09/26/2026
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Found 27 publications
Protocol for spatial metabolomics and isotope tracing in the mouse brain.
Journal: STAR protocols
Published: December 10, 2024
Cardiac transplant outcomes in a pediatric patient with novel homozygous variants in TOP3Α causing mitochondrial dysfunction.
Journal: Molecular genetics and metabolism
Published: August 29, 2024
Protocol for enhancing RNA yield and quality from single nuclei isolated from mouse brain tissue.
Journal: STAR protocols
Published: August 21, 2024
Mental Health Across the Metabolic Spectrum.
Journal: Biological psychiatry global open science
Published: July 14, 2024
Metabolic Determinants of Cerebellar Circuit Formation and Maintenance.
Journal: Cerebellum (London, England)
Published: November 27, 2023
Imaging brain glucose metabolism in vivo reveals propionate as a major anaplerotic substrate in pyruvate dehydrogenase deficiency.
Journal: Cell metabolism
Published: February 20, 2023
Metabolic modulation of synaptic failure and thalamocortical hypersynchronization with preserved consciousness in Glut1 deficiency.
Journal: Science translational medicine
Published: October 05, 2022
Synaptic energy metabolism and neuronal excitability, in sickness and health.
Journal: Journal of inherited metabolic disease
Published: April 29, 2018
Measurement of 13 C turnover into glutamate and glutamine pools in brain tumor patients.
Journal: FEBS letters
Published: August 22, 2017
Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia.
Journal: American journal of human genetics
Published: April 01, 2017
Brain metabolism modulates neuronal excitability in a mouse model of pyruvate dehydrogenase deficiency.
Journal: Science translational medicine
Published: March 02, 2017
A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features.
Journal: Journal of medical genetics
Published: March 01, 2017
Last Updated: 09/26/2026