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Items: 29

1.

Brain metabolism modulates neuronal excitability in a mouse model of pyruvate dehydrogenase deficiency.

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.

Sci Transl Med. 2019 Feb 20;11(480). pii: eaan0457. doi: 10.1126/scitranslmed.aan0457.

PMID:
30787166
2.

Synaptic energy metabolism and neuronal excitability, in sickness and health.

Oyarzabal A, Marin-Valencia I.

J Inherit Metab Dis. 2019 Mar;42(2):220-236. doi: 10.1002/jimd.12071. Review.

PMID:
30734319
3.

Measurement of 13 C turnover into glutamate and glutamine pools in brain tumor patients.

Pichumani K, Mashimo T, Vemireddy V, Ijare OB, Mickey BE, Malloy CR, Marin-Valencia I, Baskin DS, Bachoo RM, Maher EA.

FEBS Lett. 2017 Nov;591(21):3548-3554. doi: 10.1002/1873-3468.12867. Epub 2017 Oct 27.

4.

Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia.

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, Baas F, Barr FA, Gleeson JG.

Am J Hum Genet. 2017 Sep 7;101(3):441-450. doi: 10.1016/j.ajhg.2017.07.015. Epub 2017 Aug 17.

5.

A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features.

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.

J Med Genet. 2018 Jan;55(1):48-54. doi: 10.1136/jmedgenet-2017-104627. Epub 2017 Jun 16.

6.

Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome.

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, Kayserili H, Gleeson JG.

J Med Genet. 2017 Jun;54(6):399-403. doi: 10.1136/jmedgenet-2016-104237. Epub 2017 Mar 9.

PMID:
28280135
7.

Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.

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, Gregor A, Guemez-Gamboa A, Musaev D, Mande R, Widjaja A, Shaw TL, Markmiller S, Marin-Valencia I, Davies JH, de Meirleir L, Kayserili H, Altunoglu U, Freckmann ML, Warwick L, Chitayat D, Blaser S, Çağlayan AO, Bilguvar K, Per H, Fagerberg C, Christesen HT, Kibaek M, Aldinger KA, Manchester D, Matsumoto N, Muramatsu K, Saitsu H, Shiina M, Ogata K, Foulds N, Dobyns WB, Chi NC, Traver D, Spaccini L, Bova SM, Gabriel SB, Gunel M, Valente EM, Nassogne MC, Bennett EJ, Yeo GW, Baas F, Lykke-Andersen J, Gleeson JG.

Nat Genet. 2017 Mar;49(3):457-464. doi: 10.1038/ng.3762. Epub 2017 Jan 16.

8.

PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thrive.

Zaki MS, Bhat G, Sultan T, Issa M, Jung HJ, Dikoglu E, Selim L, G Mahmoud I, Abdel-Hamid MS, Abdel-Salam G, Marin-Valencia I, Gleeson JG.

Ann Neurol. 2016 Jul;80(1):59-70. doi: 10.1002/ana.24678. Epub 2016 Jun 1.

9.

Decreased carbon shunting from glucose toward oxidative metabolism in diet-induced ketotic rat brain.

Zhang Y, Zhang S, Marin-Valencia I, Puchowicz MA.

J Neurochem. 2015 Feb;132(3):301-12. doi: 10.1111/jnc.12965. Epub 2014 Nov 10.

10.

The ratio of acetate-to-glucose oxidation in astrocytes from a single 13C NMR spectrum of cerebral cortex.

Marin-Valencia I, Hooshyar MA, Pichumani K, Sherry AD, Malloy CR.

J Neurochem. 2015 Jan;132(1):99-109. doi: 10.1111/jnc.12948. Epub 2014 Oct 14.

11.

Triheptanoin for glucose transporter type I deficiency (G1D): modulation of human ictogenesis, cerebral metabolic rate, and cognitive indices by a food supplement.

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.

JAMA Neurol. 2014 Oct;71(10):1255-65. doi: 10.1001/jamaneurol.2014.1584.

12.

Thiamine deficiency secondary to anorexia nervosa: an uncommon cause of peripheral neuropathy and Wernicke encephalopathy in adolescence.

Renthal W, Marin-Valencia I, Evans PA.

Pediatr Neurol. 2014 Jul;51(1):100-3. doi: 10.1016/j.pediatrneurol.2014.03.025. Epub 2014 Mar 30.

PMID:
24938142
13.

Pathogenetic mechanisms of focal cortical dysplasia.

Marin-Valencia I, Guerrini R, Gleeson JG.

Epilepsia. 2014 Jul;55(7):970-8. doi: 10.1111/epi.12650. Epub 2014 May 23. Review.

14.

Methylphenidate and continuous spike and wave during sleep in a child with attention deficit hyperactivity disorder.

Sheen VL, Shankar M, Marin-Valencia I, Bridgemohan CH, Torres AR.

Pediatr Neurol. 2013 Jul;49(1):54-7. doi: 10.1016/j.pediatrneurol.2012.12.036.

PMID:
23827428
15.

Modeling of brain metabolism and pyruvate compartmentation using (13)C NMR in vivo: caution required.

Jeffrey FM, Marin-Valencia I, Good LB, Shestov AA, Henry PG, Pascual JM, Malloy CR.

J Cereb Blood Flow Metab. 2013 Aug;33(8):1160-7. doi: 10.1038/jcbfm.2013.67. Epub 2013 May 8.

16.

Heptanoate as a neural fuel: energetic and neurotransmitter precursors in normal and glucose transporter I-deficient (G1D) brain.

Marin-Valencia I, Good LB, Ma Q, Malloy CR, Pascual JM.

J Cereb Blood Flow Metab. 2013 Feb;33(2):175-82. doi: 10.1038/jcbfm.2012.151. Epub 2012 Oct 17.

17.

Cortical metabolism in pyruvate dehydrogenase deficiency revealed by ex vivo multiplet (13)C NMR of the adult mouse brain.

Marin-Valencia I, Good LB, Ma Q, Malloy CR, Patel MS, Pascual JM.

Neurochem Int. 2012 Dec;61(7):1036-43. doi: 10.1016/j.neuint.2012.07.020. Epub 2012 Aug 3.

18.

Glut1 deficiency (G1D): epilepsy and metabolic dysfunction in a mouse model of the most common human phenotype.

Marin-Valencia I, Good LB, Ma Q, Duarte J, Bottiglieri T, Sinton CM, Heilig CW, Pascual JM.

Neurobiol Dis. 2012 Oct;48(1):92-101. doi: 10.1016/j.nbd.2012.04.011. Epub 2012 Apr 23.

19.

Analysis of tumor metabolism reveals mitochondrial glucose oxidation in genetically diverse human glioblastomas in the mouse brain in vivo.

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, Matés JM, Pascual JM, Maher EA, Malloy CR, Deberardinis RJ, Bachoo RM.

Cell Metab. 2012 Jun 6;15(6):827-37. doi: 10.1016/j.cmet.2012.05.001. Erratum in: Cell Metab. 2012 Nov 7;16(5):686.

20.

Metabolism of [U-13 C]glucose in human brain tumors in vivo.

Maher EA, Marin-Valencia I, Bachoo RM, Mashimo T, Raisanen J, Hatanpaa KJ, Jindal A, Jeffrey FM, Choi C, Madden C, Mathews D, Pascual JM, Mickey BE, Malloy CR, DeBerardinis RJ.

NMR Biomed. 2012 Nov;25(11):1234-44. doi: 10.1002/nbm.2794. Epub 2012 Mar 15.

21.

Glucose metabolism via the pentose phosphate pathway, glycolysis and Krebs cycle in an orthotopic mouse model of human brain tumors.

Marin-Valencia I, Cho SK, Rakheja D, Hatanpaa KJ, Kapur P, Mashimo T, Jindal A, Vemireddy V, Good LB, Raisanen J, Sun X, Mickey B, Choi C, Takahashi M, Togao O, Pascual JM, Deberardinis RJ, Maher EA, Malloy CR, Bachoo RM.

NMR Biomed. 2012 Oct;25(10):1177-86. doi: 10.1002/nbm.2787. Epub 2012 Mar 1.

22.

2-hydroxyglutarate detection by magnetic resonance spectroscopy in IDH-mutated patients with gliomas.

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, Maher EA.

Nat Med. 2012 Jan 26;18(4):624-9. doi: 10.1038/nm.2682.

23.

High-resolution detection of ¹³C multiplets from the conscious mouse brain by ex vivo NMR spectroscopy.

Marin-Valencia I, Good LB, Ma Q, Jeffrey FM, Malloy CR, Pascual JM.

J Neurosci Methods. 2012 Jan 15;203(1):50-5. doi: 10.1016/j.jneumeth.2011.09.006. Epub 2011 Sep 17.

24.

Targeting the metabolic flexibility of cancer cells: straighten up and die right.

Marin-Valencia I, DeBerardinis RJ.

Cell Cycle. 2011 Jan 15;10(2):188. Epub 2011 Jan 15. No abstract available.

PMID:
21239880
25.

Pyruvate carboxylase deficiency: mechanisms, mimics and anaplerosis.

Marin-Valencia I, Roe CR, Pascual JM.

Mol Genet Metab. 2010 Sep;101(1):9-17. doi: 10.1016/j.ymgme.2010.05.004. Epub 2010 Jun 9. Review.

PMID:
20598931
26.

Assessment of the perimortem protocol in neonates for the diagnosis of inborn errors of metabolism.

Marín-Valencia I, Vilaseca MA, Thió M, García-Cazorla A, Artuch R, Campistol J.

Eur J Paediatr Neurol. 2010 Mar;14(2):125-30. doi: 10.1016/j.ejpn.2009.05.001. Epub 2009 Jun 9.

PMID:
19515591
27.

Severe generalized oedema with haemodynamic instability in a previously healthy patient (Case Presentation).

Marín-Valencia I, Antón J, Ros J, Cols M.

Acta Paediatr. 2009 Mar;98(3):420, 600-1. doi: 10.1111/j.1651-2227.2008.00928.x. No abstract available.

PMID:
19183358
28.

Biochemical diagnosis of dopaminergic disturbances in paediatric patients: analysis of cerebrospinal fluid homovanillic acid and other biogenic amines.

Marín-Valencia I, Serrano M, Ormazabal A, Pérez-Dueñas B, García-Cazorla A, Campistol J, Artuch R.

Clin Biochem. 2008 Nov;41(16-17):1306-15. doi: 10.1016/j.clinbiochem.2008.08.077. Epub 2008 Sep 3. Review.

PMID:
18790694
29.

[Atloaxoid spondylitis. An infrequent cause of torticollis].

Marín Valencia I, García García JJ, Fasheh Youssef W, Frías Riu JL, Luaces Cubells C.

An Pediatr (Barc). 2005 Sep;63(3):270-1. Spanish. No abstract available.

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