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JAMA Neurology|August 12, 2014
Triheptanoin for glucose transporter type I deficiency (G1D): modulation of human ictogenesis, cerebral metabolic rate, and cognitive indices by a food supplementJuan M Pascual, Peiying Liu, Deng Mao, et al.
Journal of Medical Genetics|June 20, 2017
A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic featuresIsaac Marin-Valencia, Gaia Novarino, Anide Johansen, et al.
NMR in Biomedicine|March 16, 2012
Metabolism of [U-13 C]glucose in human brain tumors in vivoElizabeth A Maher, Isaac Marin-Valencia, Robert M Bachoo, et al.
American Journal of Human Genetics|August 22, 2017
Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar HypoplasiaIsaac Marin-Valencia, Andreas Gerondopoulos, Maha S Zaki, et al.
Journal of Medical Genetics|March 11, 2017
Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndromeRasim Ozgur Rosti, Bethany N Sotak, Stephanie L Bielas, et al.
Science Translational Medicine|October 5, 2022
Metabolic modulation of synaptic failure and thalamocortical hypersynchronization with preserved consciousness in Glut1 deficiencyKarthik Rajasekaran, Qian Ma, Levi B Good, et al.
Nature Medicine|January 28, 2012
2-hydroxyglutarate detection by magnetic resonance spectroscopy in IDH-mutated patients with gliomasChangho Choi, Sandeep K Ganji, Ralph J DeBerardinis, et al.
NMR in Biomedicine|March 3, 2012
Glucose metabolism via the pentose phosphate pathway, glycolysis and Krebs cycle in an orthotopic mouse model of human brain tumorsIsaac Marin-Valencia, Steve K Cho, Dinesh Rakheja, et al.
Cell Metabolism|June 12, 2012
Analysis of tumor metabolism reveals mitochondrial glucose oxidation in genetically diverse human glioblastomas in the mouse brain in vivoIsaac Marin-Valencia, Chendong Yang, Tomoyuki Mashimo, et al.
Nature Genetics|January 17, 2017
Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processingRea M Lardelli, Ashleigh E Schaffer, Veerle R C Eggens, et al.
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