| Year |
Citation |
Score |
| 2019 |
Jakkamsetti V, Marin-Valencia I, Ma Q, Good LB, Terrill T, Rajasekaran K, Pichumani K, Khemtong C, Hooshyar MA, Sundarrajan C, Patel MS, Bachoo RM, Malloy CR, Pascual JM. Brain metabolism modulates neuronal excitability in a mouse model of pyruvate dehydrogenase deficiency. Science Translational Medicine. 11. PMID 30787166 DOI: 10.1126/Scitranslmed.Aan0457 |
0.306 |
|
| 2017 |
Marin-Valencia I, Gerondopoulos A, Zaki MS, Ben-Omran T, Almureikhi M, Demir E, Guemez-Gamboa A, Gregor A, Issa MY, Appelhof B, Roosing S, Musaev D, Rosti B, Wirth S, Stanley V, et al. Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia. American Journal of Human Genetics. PMID 28823706 DOI: 10.1016/J.Ajhg.2017.07.015 |
0.748 |
|
| 2017 |
Marin-Valencia I, Novarino G, Johansen A, Rosti B, Issa MY, Musaev D, Bhat G, Scott E, Silhavy JL, Stanley V, Rosti RO, Gleeson JW, Imam FB, Zaki MS, Gleeson JG. A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features. Journal of Medical Genetics. PMID 28626029 DOI: 10.1136/Jmedgenet-2017-104627 |
0.722 |
|
| 2017 |
Rosti RO, Sotak BN, Bielas SL, Bhat G, Silhavy JL, Aslanger AD, Altunoglu U, Bilge I, Tasdemir M, Yzaguirrem AD, Musaev D, Infante S, Thuong W, Marin-Valencia I, Nelson SF, et al. Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome. Journal of Medical Genetics. PMID 28280135 DOI: 10.1136/Jmedgenet-2016-104237 |
0.639 |
|
| 2017 |
Lardelli RM, Schaffer AE, Eggens VR, Zaki MS, Grainger S, Sathe S, Van Nostrand EL, Schlachetzki Z, Rosti B, Akizu N, Scott E, Silhavy JL, Heckman LD, Rosti RO, Dikoglu E, ... ... Marin-Valencia I, et al. Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing. Nature Genetics. PMID 28092684 DOI: 10.1038/Ng.3762 |
0.607 |
|
| 2016 |
Zaki MS, Bhat G, Sultan T, Issa M, Jung HJ, Dikoglu E, Selim L, Gamal I, Abdel-Hamid MS, Abdel-Salam G, Marin-Valencia I, Gleeson JG. PYCR2 mutations cause a lethal syndrome of microcephaly and failure to thrive. Annals of Neurology. PMID 27130255 DOI: 10.1002/Ana.24678 |
0.616 |
|
| 2014 |
Pascual JM, Liu P, Mao D, Kelly DI, Hernandez A, Sheng M, Good LB, Ma Q, Marin-Valencia I, Zhang X, Park JY, Hynan LS, Stavinoha P, Roe CR, Lu H. 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. PMID 25110966 DOI: 10.1001/Jamaneurol.2014.1584 |
0.339 |
|
| 2014 |
Marin-Valencia I, Guerrini R, Gleeson JG. Pathogenetic mechanisms of focal cortical dysplasia. Epilepsia. 55: 970-8. PMID 24861491 DOI: 10.1111/Epi.12650 |
0.489 |
|
| 2013 |
Marin-Valencia I, Good LB, Ma Q, Malloy CR, Pascual JM. 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. PMID 23072752 DOI: 10.1038/Jcbfm.2012.151 |
0.313 |
|
| 2012 |
Marin-Valencia I, Good LB, Ma Q, Malloy CR, Patel MS, Pascual JM. Cortical metabolism in pyruvate dehydrogenase deficiency revealed by ex vivo multiplet (13)C NMR of the adult mouse brain. Neurochemistry International. 61: 1036-43. PMID 22884585 DOI: 10.1016/J.Neuint.2012.07.020 |
0.323 |
|
| 2012 |
Marin-Valencia I, Good LB, Ma Q, Duarte J, Bottiglieri T, Sinton CM, Heilig CW, Pascual JM. Glut1 deficiency (G1D): epilepsy and metabolic dysfunction in a mouse model of the most common human phenotype. Neurobiology of Disease. 48: 92-101. PMID 22683290 DOI: 10.1016/J.Nbd.2012.04.011 |
0.357 |
|
| 2012 |
Marin-Valencia I, Yang C, Mashimo T, Cho S, Baek H, Yang XL, Rajagopalan KN, Maddie M, Vemireddy V, Zhao Z, Cai L, Good L, Tu BP, Hatanpaa KJ, Mickey BE, et al. Analysis of tumor metabolism reveals mitochondrial glucose oxidation in genetically diverse human glioblastomas in the mouse brain in vivo. Cell Metabolism. 15: 827-37. PMID 22682223 DOI: 10.1016/J.Cmet.2012.05.001 |
0.315 |
|
| 2012 |
Choi C, Ganji SK, DeBerardinis RJ, Hatanpaa KJ, Rakheja D, Kovacs Z, Yang XL, Mashimo T, Raisanen JM, Marin-Valencia I, Pascual JM, Madden CJ, Mickey BE, Malloy CR, Bachoo RM, et al. 2-hydroxyglutarate detection by magnetic resonance spectroscopy in IDH-mutated patients with gliomas. Nature Medicine. 18: 624-9. PMID 22281806 DOI: 10.1038/Nm.2682 |
0.394 |
|
| 2012 |
Marin-Valencia I, Yang C, Mashimo T, Cho S, Baek H, Yang XL, Rajagopalan KN, Maddie M, Vemireddy V, Zhao Z, Cai L, Good L, Tu BP, Hatanpaa KJ, Mickey BE, et al. Erratum: Analysis of tumor metabolism reveals mitochondrial glucose oxidation in genetically diverse human glioblastomas in the mouse brain in vivo (Cell Metabolism (2012) 16 (394-406)) Cell Metabolism. 16. DOI: 10.1016/J.Cmet.2012.10.010 |
0.308 |
|
| 2010 |
Marin-Valencia I, Roe CR, Pascual JM. Pyruvate carboxylase deficiency: mechanisms, mimics and anaplerosis. Molecular Genetics and Metabolism. 101: 9-17. PMID 20598931 DOI: 10.1016/J.Ymgme.2010.05.004 |
0.327 |
|
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