Isaac Marin-Valencia
Affiliations: | 2017 | Rockefeller University, New York, NY, United States |
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| Jakkamsetti V, Marin-Valencia I, Ma Q, et al. (2019) Brain metabolism modulates neuronal excitability in a mouse model of pyruvate dehydrogenase deficiency. Science Translational Medicine. 11 |
| Marin-Valencia I, Gerondopoulos A, Zaki MS, et al. (2017) Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia. American Journal of Human Genetics |
| Marin-Valencia I, Novarino G, Johansen A, et al. (2017) A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features. Journal of Medical Genetics |
| Rosti RO, Sotak BN, Bielas SL, et al. (2017) Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome. Journal of Medical Genetics |
| Lardelli RM, Schaffer AE, Eggens VR, et al. (2017) Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing. Nature Genetics |
| Zaki MS, Bhat G, Sultan T, et al. (2016) PYCR2 mutations cause a lethal syndrome of microcephaly and failure to thrive. Annals of Neurology |
| Pascual JM, Liu P, Mao D, et al. (2014) Triheptanoin for glucose transporter type I deficiency (G1D): modulation of human ictogenesis, cerebral metabolic rate, and cognitive indices by a food supplement. Jama Neurology. 71: 1255-65 |
| Marin-Valencia I, Guerrini R, Gleeson JG. (2014) Pathogenetic mechanisms of focal cortical dysplasia. Epilepsia. 55: 970-8 |
| Marin-Valencia I, Good LB, Ma Q, et al. (2013) Heptanoate as a neural fuel: energetic and neurotransmitter precursors in normal and glucose transporter I-deficient (G1D) brain. Journal of Cerebral Blood Flow and Metabolism : Official Journal of the International Society of Cerebral Blood Flow and Metabolism. 33: 175-82 |
| Marin-Valencia I, Good LB, Ma Q, et al. (2012) Cortical metabolism in pyruvate dehydrogenase deficiency revealed by ex vivo multiplet (13)C NMR of the adult mouse brain. Neurochemistry International. 61: 1036-43 |